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
13525045735250457CTexonicGJB3NAnonsynonymous SNVexonicENSG00000188910NAnonsynonymous SNVScore=480;Name=lod=119NA1p34.3Score=937;Name=V$NRF2_01NAName=6NArs18050630.01297920.0378NA0.02020.00080.01230.02420.0310D1.0D1.0D0.000D1.000D3.955H-6.43D0.469D0.981D2.8915.635.852.7711.08619.7882.8904152.89041500.0306980.008171NA0.014CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039325.1;CLNDSDB=.;CLNDSDBID=.23.2406354
186165424761654247GTexonicSERPINB8NAnonsynonymous SNVexonicENSG00000166401NAnonsynonymous SNVScore=374;Name=lod=44NA18q22.1NAName=NRSFName=5NANANANANANANANANANA0D1.0D0.999D0.000D1.000D4.535H0.86T1.084D0.940D4.74726.55.652.9419.55518.8914.7468864.7468860NANANANANA22.3333334
125442250454422504CTexonicHOXC6NAnonsynonymous SNVexonicENSG00000197757NAnonsynonymous SNVScore=884;Name=lod=5239NA12q13.13Score=972;Name=V$AP2GAMMA_01Name=SUZ12,ZNF263Name=8NArs1443076450.003394570.0109NA0.0014NA0.00510.01170.0150.19T0.997D0.885P0.000D1.000D2.98M-3.11D0.545D0.779D3.68918.745.542.8845.67118.4193.689113.6891100.0154650.004085NA0.007NA21.7952684
1155264120155264120CGexonicPKLRNAnonsynonymous SNVexonicENSG00000143627NAnonsynonymous SNVScore=487;Name=lod=127NA1q22NANANANANANANANANANANANANA0.02D1.0D0.998D0.000D1.000D3.015M-7.15D0.962D0.993D4.8327.44.942.7237.56216.0464.8298214.8298210.02NANANANANA21.3333334
4187205402187205402AGexonicF11NAnonsynonymous SNVexonicENSG00000088926NAnonsynonymous SNVScore=410;Name=lod=62NA4q35.2NANANANANANANANANANANANANA0D1.0D0.971D0.000D1.000D3.7H-3.77D1.090D0.942D2.59214.634.972.0668.30613.3712.5920612.5920610NANANANANA21.3333334
9131696121131696121GAexonicPHYHD1NAnonsynonymous SNVexonicENSG00000175287NAnonsynonymous SNVScore=358;Name=lod=38NA9q34.11NANANANANANANANANANANA0.00002471NA0.01D0.999D0.956D0.000D1.000D2.645M-2.67D0.890D0.850D5.099315.22.4236.77417.3365.0994535.0994530.03NANANANANA21.3333087
5150947891150947891CGexonicFAT2NAnonsynonymous SNVexonicENSG00000086570NAnonsynonymous SNVScore=309;Name=lod=24NA5q33.1Score=961;Name=V$ZIC1_01NANANArs117396930.002196490.007NANANA0.00410.00510.010.02D1.0D1.0D0.000D1.000D3.835H-2.84D0.880D0.873D4.235225.512.5957.75519.4164.2350114.23501100.0033720.000454NANANA21.3178614
132079702520797025ATexonicGJB6NAnonsynonymous SNVexonicENSG00000121742NAnonsynonymous SNVScore=289;Name=lod=20NA13q12.11NANANANArs1110333380.001797120.008NA0.0014NANA0.00470.010.02D1.0D0.998D0.000D1.000D2.305M-3.92D0.869D0.886D2.57514.575.612.1206.24915.7922.574682.5746800.0063950.000227NANACLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038709.1;CLNDSDB=.;CLNDSDBID=.21.3142384
125358653653586536CTexonicITGB7NAnonsynonymous SNVexonicENSG00000139626NAnonsynonymous SNVScore=336;Name=lod=31NA12q13.13NAName=Pol2,Pol2-4H8Name=3NArs617541620.008785940.0089NA0.02450.00150.01640.00820.040.18T1.0D0.98D0.001D1.000D2.205M-3.52D0.317D0.679D3.1616.575.132.5791.98417.8283.1604143.1604140.030.0029070.000681ID=COSM191134;OCCURENCE=1(large_intestine)0.007NA21.3133264
11134128923134128923CGexonicACAD8NAnonsynonymous SNVexonicENSG00000151498NAnonsynonymous SNVScore=399;Name=lod=56NA11q25NANANANArs1134885910.006789140.0199NA0.01440.00230.0010.01430.0220.01D1.0D0.981D0.000D1.000D3.295M-5.46D0.685D0.959D4.45423.84.821.4217.38514.7654.4535784.45357800.0221080.008632NA0.007CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000081621.1;CLNDSDB=.;CLNDSDBID=.21.2770254
191889744018897440TCexonicCOMPNAnonsynonymous SNVexonicENSG00000105664NAnonsynonymous SNVScore=399;Name=lod=56NA19p13.11NANAName=9NArs617399160.02096650.0487NA0.0259NA0.03890.03380.050.01D1.0D1.0D0.000U1.000D3.9H-5.85D0.182D0.929D3.67918.693.351.4097.70210.7173.6785563.6785560.010.0473260.013618NA0.08CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_1;CLNREVSTAT=single|single;CLNACC=RCV000033879.2|RCV000055747.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1487:C0410538:177170:ORPHA750:22567005|NBK1123:C1838280:13240021.2035074
1156848918156848918CTexonicNTRK1NAnonsynonymous SNVexonicENSG00000198400NAnonsynonymous SNVScore=505;Name=lod=150NA1q23.1Score=813;Name=V$ER_Q6NANANArs63360.0243610.0408NA0.02880.00380.05730.04250.060D0.999D0.981D0.000D1.000A0.985L-1.68D0.178D0.529D4.32322.74.372.4327.56815.9854.3232914.32329100.0604650.011802NA0.014CLINSIG=pathogenic|pathogenic|non-pathogenic;CLNDBN=Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis;CLNREVSTAT=single|single|single;CLNACC=RCV000013100.21|RCV000030667.21|RCV000030674.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1257:C1833921:155240:ORPHA653|NBK1769:C0020074:256800:ORPHA642:62985007|NBK1769:C0020074:256800:ORPHA642:6298500721.1895684
927187122718712CAexonicKCNV2NAnonsynonymous SNVexonicENSG00000168263NAnonsynonymous SNVScore=304;Name=lod=23NA9p24.2NANAName=4NANANANANANANANANANA0D0.966D0.796P0.000D1.000D1.84L-4.44D1.053D0.919D3.46217.735.222.4346.08118.8073.4622963.4622960.07NANANANANA20.8333334
24451320244513202TCexonicSLC3A1NAnonsynonymous SNVexonicENSG00000138079NAnonsynonymous SNVScore=547;Name=lod=223NA2p21Score=856;Name=V$MEIS1AHOXA9_01NANANArs1415871580.001397760.004NA0.0029NA0.0010.00290.00470.01D0.988D0.776P0.000D1.000D2.345M-4.76D1.068D0.969D3.45517.73.681.8651.99810.6823.4548473.45484700.0046510.000454NANANA20.8217824
175953490459534904GCexonicTBX4NAnonsynonymous SNVexonicENSG00000121075NAnonsynonymous SNVScore=622;Name=lod=450NA17q23.2NAName=SUZ12NANANANANANANANANANANA..0.996D0.924D0.000D1.000D0N-2.15D0.102D0.573D5.393345.632.6549.23818.2625.3926075.3926070.01NANANANANA20.3333334
81772222317722223CTexonicFGL1NAnonsynonymous SNVexonicENSG00000104760NAnonsynonymous SNVScore=304;Name=lod=23NA8p22NAName=Rad21,USF-1,CTCF,RFX5_(N-494),Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),SMC3_(ab9263)Name=113NArs368911782NANANANANANA0.000033420.00010.02D1.0D1.0D0.000D1.000D1.775L-1.29T0.317D0.651D4.21821.95.582.7937.45819.9664.2178794.21787900.0001160NANANA20.333184
158085549280855492TAexonicARNT2NAnonsynonymous SNVexonicENSG00000172379NAnonsynonymous SNVScore=568;Name=lod=272NA15q25.1Score=917;Name=V$P300_01Name=ZNF263NAScore=68;Name=838929_0_+_68rs150964641NANANANANANA0.00020.00020D0.997D0.967D0.000D1.000D2.72M2.26T-0.845T0.130T4.25522.24.261.8037.49513.5664.2545554.25455500.0002330.000227NANANA20.3329004
167299315972993159AGexonicZFHX3NAnonsynonymous SNVexonicENSG00000140836NAnonsynonymous SNVScore=796;Name=lod=2291NA16q22.3NANANANArs200949296NANANANANANA0.00010.00030D0.999D0.993D0.001D1.000D2.285M-2.28D0.688D0.765D2.09312.954.511.8148.85114.1272.0928822.092882NA0.0003490NANANA20.3328844
3125877290125877290GAexonicALDH1L1NAnonsynonymous SNVexonicENSG00000144908NAnonsynonymous SNVScore=549;Name=lod=228NA3q21.3NANANANArs1490808040.0003993610.002NANANANA0.00080.00260D1.0D1.0D0.000D1.000D3.95H-1.97D0.927D0.836D4.27522.34.842.5259.32715.4494.2754344.27543400.0010470.000227NANANA20.3294864
125756933957569339GAexonicLRP1NAnonsynonymous SNVexonicENSG00000123384NAnonsynonymous SNVScore=502;Name=lod=146NA12q13.3Score=754;Name=V$HEN1_02NAName=133NArs358904090.001797120.005NA0.00290.00080.0010.00350.00451T1.0D0.998D0.000D1.000D1.525L-3.96D0.658D0.877D3.32417.183.942.5373.21415.3023.3235443.3235440.10.0045350.001589NANANA20.3202984
11185637811856378GAexonicMTHFRNAnonsynonymous SNVexonicENSG00000177000NAnonsynonymous SNVScore=483;Name=lod=122Name=Homocysteine levels1p36.22NAName=eGFP-HDAC8,Pol2,CEBPBName=4NArs18011330.2454070.36480.29560.47410.090.11860.30370.490.05D0.999D0.987D0.000D0.000P2.425M-4.03D-1.455T0.000T4.21121.95.082.5149.04417.4324.2108374.21083700.346860.121652ID=COSM146404;OCCURENCE=1(stomach)0.304CLINSIG=non-pathogenic;CLNDBN=MTHFR_deficiencyx2c_thermolabile_type;CLNREVSTAT=single;CLNACC=RCV000003697.3;CLNDSDB=MedGen;CLNDSDBID=C185605920.3179734
22746136827461368TCexonicCADNAnonsynonymous SNVexonicENSG00000084774NAnonsynonymous SNVScore=467;Name=lod=105NA2p23.3Score=979;Name=V$MYOD_01NANANArs1446927930.002196490.005NA0.0072NA0.0010.00450.00780.03D0.997D0.989D0.000D1.000D0.675N-4.69D0.879D0.873D4.928.24.941.8607.63213.4484.9003274.9003270.020.0077910.001362NANANA20.3160424
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
2218758200218758200TGexonicTNS1NAnonsynonymous SNVexonicENSG00000079308NAnonsynonymous SNVScore=414;Name=lod=64NA2q35Score=848;Name=V$HAND1E47_01NANANArs617457480.01257990.0199NA0.00860.00230.03480.02330.030.01D1.0D0.999D0.000D1.000D1.555L-5.03D0.589D0.881D3.65318.575.092.1426.09714.6943.6525583.65255800.0220930.004312NA0.007NA20.2680404
186417243464172434CGexonicCDH19NAnonsynonymous SNVexonicENSG00000071991NAnonsynonymous SNVScore=482;Name=lod=121NA18q22.1NANANANArs558745200.006988820.0258NA0.01010.0015NA0.01610.030D0.999D0.993D0.000D1.000D3.235M-2.0D0.426D0.608D3.91719.925.182.5647.28419.0693.9171293.91712900.0254650.005901NANANA20.2659684
1620030162003016GAexonicRPL3LNAnonsynonymous SNVexonicENSG00000140986NAnonsynonymous SNVScore=514;Name=lod=163NA16p13.3Score=748;Name=V$PAX4_04Name=ZBTB7A_(SC-34508),CTCF,CTCF_(SC-5916),Egr-1Name=3NArs1401856780.005990420.0229NA0.00290.00150.00310.0270.0340.01D1.0D0.976D0.000D1.000D3.945H0.84T-0.066T0.226T3.63518.495.282.4799.39517.9003.6354493.6354490.010.0334880.005912NANANA20.2499454
11110666611106666TCexonicMASP2NAnonsynonymous SNVexonicENSG00000009724NAnonsynonymous SNVScore=502;Name=lod=146NA1p36.22Score=973;Name=V$EN1_01NAName=4NArs725508700.01198080.0388NA0.02310.00080.00410.02250.040D0.996D0.972D0.000D1.000A3.19M1.1T-0.375T0.104T4.55224.64.771.7727.62813.2724.5517994.55179900.0288370.005901ID=COSM1320150;OCCURENCE=1(ovary)0.014CLINSIG=pathogenic;CLNDBN=MASP2_deficiency;CLNREVSTAT=single;CLNACC=RCV000005520.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3151085:61379120.2431964
102643445526434455GTexonicMYO3ANAnonsynonymous SNVexonicENSG00000095777NAnonsynonymous SNVScore=569;Name=lod=274NA10p12.1Score=838;Name=V$OCT1_02NANANArs339479680.03274760.09640.0010.0490.00760.02250.06450.0930.01D1.0D0.998D0.000D1.000D3.675H-3.08D-0.177T0.342T5.203335.722.7039.86919.885.2034555.20345500.0932560.020427NA0.08CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039030.1;CLNDSDB=.;CLNDSDBID=.20.0791774
172131920821319208CTexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=523;Name=lod=178NA17p11.2Score=798;Name=V$YY1_02NANANArs73979896NANANANANANA0.46430.110.02D0.984D0.435B0.000D1.000D2.34M-3.76D0.890D0.851D4.56824.85.322.4967.68018.9984.5681414.5681410.04NANANA0.101NA19.8690334
1713838681383868CTexonicMYO1CNAnonsynonymous SNVexonicENSG00000197879NAnonsynonymous SNVScore=423;Name=lod=70NA17p13.3NANANANArs1176961880.0007987220.003NA0.0014NANA0.00210.0110.01D0.983D0.793P0.000D0.999D2.185M-2.24D0.469D0.698D3.50717.924.491.2824.67611.8733.5065533.5065530.010.0044190.001135NA0.007NA19.8238144
1156347131156347131GAexonicRHBGNAnonsynonymous SNVexonicENSG00000132677NAstopgainScore=624;Name=lod=460NA1q22Score=833;Name=V$HNF4_01_BNANANArs22456230.2705670.45630.10120.27810.19360.35280.3740.460D1.0D1.0D0.000D0.000P3.555H-1.51D0.705D0.739D5.389344.862.5129.39516.7195.3893425.38934200.4473260.225374NA0.21NA19.3890407
1231398511231398511ATexonicGNPATNAnonsynonymous SNVexonicENSG00000116906NAnonsynonymous SNVScore=563;Name=lod=259NA1q42.2NANANANANANANANANANANANANA1T1.0D0.996D0.000D1.000D0.485N-3.21D0.279D0.749D4.50124.25.652.1639.33915.8844.5009724.5009720NANANANANA19.3333334
8100994274100994274AGexonicRGS22NAnonsynonymous SNVexonicENSG00000132554NAnonsynonymous SNVScore=628;Name=lod=476NA8q22.2Score=889;Name=V$LHX3_01NANANANANANANANANANANANA0D0.999D0.996D0.000D0.985D2.045M1.55T-0.731T0.185T4.10621.25.181.9368.70115.0184.1062714.1062710NANANANANA19.3333334
116856680268566802GAexonicCPT1ANAnonsynonymous SNVexonicENSG00000110090NAnonsynonymous SNVScore=289;Name=lod=20NA11q13.3NANANANANANANANANANANANANA0.14T0.915P0.622P0.000D1.000D2.425M-2.82D0.636D0.771D4.52724.44.662.1439.35617.5514.5273054.5273050NANANANANA19.3333334
204004590240045902CTexonicCHD6NAnonsynonymous SNVexonicENSG00000124177NAnonsynonymous SNVScore=284;Name=lod=19NA20q12NANANANArs1816431650.000199681NANA0.0014NANA0.00040.0110.34T0.999D0.978D0.000D1.000D2.095M-2.06D0.303D0.725D3.18616.665.442.7025.43119.6233.1857633.1857630.280.0002330NA0.007NA19.3327004
173486293234862932CTexonicMYO19NAnonsynonymous SNVexonicENSG00000141140NAnonsynonymous SNVScore=352;Name=lod=36NA17q12Score=837;Name=V$HAND1E47_01NANANArs2014686100.000599042NANA0.0043NANA0.00030.00060D1.0D0.997D..1.000D2.56M-2.21D0.528D0.754D4.53224.43.270.7883.4849.1434.5323074.53230700.0005580NANANA19.3324754
7128494922128494922GAexonicFLNCNAnonsynonymous SNVexonicENSG00000128591NAnonsynonymous SNVScore=540;Name=lod=209NA7q32.1NANANANArs2016721460.0005990420.002NANA0.0008NA0.00190.00240.03D1.0D0.998D0.000D0.999D0.455N-1.93D0.219D0.574D1.93112.415.292.4513.21112.741.9305441.9305440.30.0023840.001243ID=COSM1085386;OCCURENCE=1(endometrium)NANA19.3270494
5179321458179321458CTexonicTBC1D9BNAnonsynonymous SNVexonicENSG00000197226NAnonsynonymous SNVScore=632;Name=lod=493NA5q35.3Score=807;Name=V$AHRARNT_02NANANArs1415396620.001198080.006NANANANA0.00180.010.08T1.0D1.0D0.000D1.000D1.445L-2.3D0.396D0.654D4.67825.84.842.5267.57618.1984.678344.6783400.0011630.000227NANANA19.3243704
77274573872745738CTexonicFKBP6NAnonsynonymous SNVexonicENSG00000077800NAnonsynonymous SNVScore=489;Name=lod=130NA7q11.23Score=764;Name=V$E2F_01NANANArs1472130940.0003993610.002NANANANA0.00320.00410D1.0D0.939D0.002N1.000D2.16M-0.88T0.019D0.502D3.85619.595.462.5732.3538.6383.8559333.85593300.0041480.000269NANANA19.3239854
191109709811097098CTexonicSMARCA4NAnonsynonymous SNVexonicENSG00000127616NAnonsynonymous SNVScore=598;Name=lod=360NA19p13.2NAName=CTCFNANArs2006644410.001397760.003NA0.0014NA0.00310.00570.00130.36T0.997D0.992D0.000D1.000D1.18L-2.35D0.313D0.708D4.09521.14.322.2447.51015.7594.0954854.0954850.30.0012860.000228ID=COSM30574;OCCURENCE=1(breast)NANA19.3233474
129637173196371731CTexonicHALNAnonsynonymous SNVexonicENSG00000084110NAnonsynonymous SNVScore=544;Name=lod=216NA12q23.1Score=971;Name=V$USF_CNANANArs619378780.0009984030.004NA0.0014NANA0.00180.010D1.0D0.998D0.000D1.000D3.045M-1.17T0.304D0.584D2.80415.343.930.7934.69512.3092.8043132.80431300.0050.001135NANANA19.3225334
5140773812140773812GAexonicPCDHGA8NAnonsynonymous SNVexonicENSG00000253767NAnonsynonymous SNVScore=333;Name=lod=30NA5q31.3Score=807;Name=V$COMP1_01NANANArs1447960760.001996810.007NA0.0029NA0.0010.00210.0110D1.0D1.0D0.006U1.000D5.12H-0.85T0.879D0.745D3.17316.625.062.3669.59518.0783.1733973.17339700.0030730.000951NA0.007NA19.3211604
171041526910415269AGexonicMYH1NAnonsynonymous SNVexonicENSG00000109061NAnonsynonymous SNVScore=678;Name=lod=762NA17p13.1NANANANArs1177901020.003594250.0139NA0.0043NA0.0010.01270.0150D0.998D0.992D0.032U1.000D4.055H-2.44D0.884D0.852D4.25622.25.732.3089.18416.3124.2564984.25649800.0148840.001362NANANA19.2918494
9101797330101797330CTexonicCOL15A1NAnonsynonymous SNVexonicENSG00000204291NAnonsynonymous SNVScore=428;Name=lod=73NA9q22.33Score=797;Name=V$OLF1_01NANANArs413089000.006789140.0169NA0.0173NA0.00510.01590.0210.12T0.999D0.929D0.005N0.999D2.86M-4.51D0.709D0.905D2.45514.174.781.3682.52612.0102.4547342.4547340.050.0210470.003404NA0.051NA19.2794864
156567744665677446CAexonicIGDCC4NAnonsynonymous SNVexonicENSG00000103742NAnonsynonymous SNVScore=383;Name=lod=48NA15q22.31Score=815;Name=V$ARP1_01Name=Rad21,AP-2gamma,ELF1_(SC-631),TAF7_(SQ-8),CTCF,ZNF263,Pol2,Pol2-4H8,TAF1,HMGN3,YY1_(C-20),SMC3_(ab9263),CTCF_(SC-5916)Name=84NArs1169289370.01317890.02090.0050.01870.00080.02660.02120.030.01D1.0D0.996D0.000D0.997D1.735L-0.57T-0.296T0.246T3.517.895.232.4444.31915.9373.5002523.50025200.0122860.001578NANANA19.2789474
1619970041997004CTexonicRPL3LNAnonsynonymous SNVexonicENSG00000140986NAnonsynonymous SNVScore=420;Name=lod=68NA16p13.3Score=819;Name=V$MYOGNF1_01NANANArs1139562640.02116610.02880.02480.02310.0030.03270.02550.0330D1.0D0.986D0.000D1.000D3.455M-0.12T0.028D0.301T3.39117.444.922.4237.72917.4763.3907113.39071100.0273320.004775NA0.065NA19.2517014
9108363426108363426CTexonicFKTNNAnonsynonymous SNVexonicENSG00000106692NAnonsynonymous SNVScore=589;Name=lod=329NA9q31.2NANANANArs412777970.01038340.0318NA0.02450.00150.0010.02350.03..1.0D0.917D0.000D1.000D1.7L-1.64D0.176D0.549D3.83619.485.652.6682.47113.6513.8355463.83554600.0282820.005684NA0.007CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000079431.3|RCV000125123.1;CLNDSDB=.|.;CLNDSDBID=.|.19.2497514
14322348943223489CTexonicLEPRE1NAnonsynonymous SNVexonicENSG00000117385NAnonsynonymous SNVScore=437;Name=lod=80NA1p34.2NANAName=7NArs67006770.05491210.03880.0010.03890.1120.06130.04480.110D1.0D1.0D0.000D1.000D2.89M-1.66D-0.536T0.067T4.366235.842.7697.48717.6434.3657184.36571800.0434880.108488ID=COSM1342736,COSM1342737;OCCURENCE=2(large_intestine)0.058NA19.2062454
105453124254531242GAexonicMBL2NAnonsynonymous SNVexonicENSG00000165471NAnonsynonymous SNVScore=399;Name=lod=56NA10q21.1NANANANArs50307370.02715650.05960.0010.03310.00150.05110.05690.070.01D1.0D0.977D0.033N0.993A3.335M-3.2D0.062D0.432T3.35317.293.071.2631.1219.1123.3527573.35275700.0693020.011802NA0.022CLINSIG=pathogenic;CLNDBN=Mannose-binding_protein_deficiency;CLNREVSTAT=single;CLNACC=RCV000015426.24;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1835140:61437219.1475314
72068760420687604AGexonicABCB5NAnonsynonymous SNVexonicENSG00000004846NAnonsynonymous SNVScore=503;Name=lod=148NA7p21.1Score=856;Name=V$CDP_02Name=CEBPBNANArs617320390.04512780.1441NA0.05910.00830.02970.11180.140.01D1.0D0.998D..1.000D2.64M-2.4D-0.823T0.032T3.55318.124.151.1086.31410.3933.5533143.55331400.1343950.02838NA0.014NA18.9430384
124194653941946539GAexonicPDZRN4NAnonsynonymous SNVexonicENSG00000165966NAnonsynonymous SNVScore=503;Name=lod=147NA12q12Score=887;Name=V$TATA_01Name=c-FosName=38NArs2855840.1667330.1590.10810.11960.25570.14830.1650.240D0.999D0.955D0.000D0.000P1.93M0.44T-1.192T0.000T5.461355.042.7156.54719.2685.4611855.4611850.010.1612790.239446NA0.246NA18.8480544
117843374678433746GAexonicTENM4NAnonsynonymous SNVexonicENSG00000149256NAnonsynonymous SNVScore=586;Name=lod=321NA11q14.1NANANANANANANANANANANANANA..0.518P0.115B0.000D1.000D2.08M-2.58D0.134D0.625D4.13121.35.642.9379.39719.8954.1314774.1314770.03NANANANANA18.8333334
176149757761497577GAexonicTANC2NAnonsynonymous SNVexonicENSG00000170921NAnonsynonymous SNVScore=604;Name=lod=381NA17q23.3NAName=ZBTB7A_(SC-34508)Name=3NANANANANANANANA0NA0.03D0.992D0.905P0.000D1.000D0.345N-0.44T-0.430T0.283T4.74226.54.391.2179.47615.0734.7417084.7417080NANANANANA18.8333334
182111994921119949TAexonicNPC1NAnonsynonymous SNVexonicENSG00000141458NAnonsynonymous SNVScore=363;Name=lod=40NA18q11.2NANANANArs372030650NANANANANANA0.000033080.00010.02D0.431B0.482P0.000D1.000D3.055M-3.36D0.919D0.873D2.86215.535.672.2816.14016.2012.8617632.8617630.010.0001160NANANA18.8331843
162437271724372717GAexonicCACNG3NAnonsynonymous SNVexonicENSG00000006116NAnonsynonymous SNVScore=567;Name=lod=269NA16p12.1NANANANArs140935639NANANANANANA0.000041880.00020.61T0.99D0.782P0.000D0.999D2.175M-2.51D0.351D0.728D0.8378.3794.962.2744.88616.810.837053NA0.220.0002330.000228ID=COSM1563172;OCCURENCE=1(large_intestine)NANA18.8330585
33315602033156020CGexonicCRTAPNAnonsynonymous SNVexonicENSG00000170275NAnonsynonymous SNVScore=592;Name=lod=341NA3p22.3NAName=TAF1,HEY1,HMGN3,E2F6_(H-50),ETS1,Pol2(b),Pol2-4H8,Pol2,TBP,ZBTB7A_(SC-34508),c-Myc,IRF1,GTF2F1_(RAP-74),THAP1_(SC-98174),AP-2alpha,TCF4,CCNT2,ELF1_(SC-631),NFKB,AP-2gammaName=148NArs2021188610.0001996810.001NANANANA0.00060.010D0.993D0.775P0.000D1.000D2.99M0.1T-0.128T0.305T4.9228.44.182.3283.61816.6294.920354.920350NANANANANA18.8317334
35492542654925426CTexonicCACNA2D3NAnonsynonymous SNVexonicENSG00000157445NAnonsynonymous SNVScore=403;Name=lod=58NA3p14.3Score=782;Name=V$AHRARNT_02Name=BAF170Name=27NArs1123629950.003793930.0159NA0.00140.0015NA0.00760.0110D0.998D0.899P0.000D1.000D1.61L1.58T-0.957T0.114T4.67425.85.542.6047.48717.6594.6743684.6743680.010.0111220.002132NANANA18.7987114
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
64419836244198362TCexonicSLC29A1NAnonsynonymous SNVexonicENSG00000112759NAnonsynonymous SNVScore=284;Name=lod=19NA6p21.1NANANANArs455739360.007987220.0139NA0.00860.00380.01530.01920.030.13T0.988D0.828P0.000D0.999D2.15M-1.56D0.137D0.566D3.03116.115.522.0914.51614.233.0307963.0307960.150.0297670.004085NANANA18.7704664
6117083172117083172CTexonicFAM162BNAnonsynonymous SNVexonicENSG00000183807NAnonsynonymous SNVScore=569;Name=lod=273NA6q22.1NAName=SRF,GATA2_(CG2-96),TAL1_(SC-12984)Name=4NArs413060450.02136580.02390.0060.0130.01290.05210.0210.0330.01D0.98D0.563P0.000D0.996D2.045M1.18T-1.019T0.077T3.27817.013.611.2475.20211.7263.2781553.2781550.020.0189050.014921NA0.022NA18.7695284
12121622304121622304ACexonicP2RX7NAnonsynonymous SNVexonicENSG00000089041NAnonsynonymous SNVScore=428;Name=lod=73Name=Chronic obstructive pulmonary disease-related biomarkers12q24.31Score=833;Name=V$OLF1_01NAName=11NArs37511430.2074680.20870.26690.19160.08470.32210.19030.260D0.998D0.995D0.000D0.000P2.52M4.32T-1.050T0.000T4.60725.15.211.9676.49012.4464.6068264.6068260.010.1848840.089877NA0.159NA18.7494494
158378159983781599TGexonicTM6SF1NAnonsynonymous SNVexonicENSG00000136404NAnonsynonymous SNVScore=295;Name=lod=21NA15q25.2Score=894;Name=V$NF1_Q6Name=c-Fos,c-Jun,GATA-2,CTCFName=84NArs794700220.02316290.0616NA0.04180.00080.02450.04560.050D0.989D0.804P0.008N1.000D1.955M0.46T-0.828T0.061T4.64625.55.62.1276.09614.7624.645564.645560NANANANANA18.7261334
194618139246181392GCexonicGIPRNAnonsynonymous SNVexonicENSG00000010310NAnonsynonymous SNVScore=578;Name=lod=297Name=Obesity19q13.32Score=874;Name=V$NMYC_01Name=c-Myc,CTCF,CTCF_(SC-5916)Name=21NArs18004370.1611420.21370.20730.12680.12330.1350.20190.220.07T1.0D0.999D0.000D0.021P2.545M0.9T-1.097T0.000T4.46823.93.140.9543.26511.0624.467824.467820.010.2034880.113482NA0.167NA18.7142454
1162367103162367103GTexonicSH2D1BNAnonsynonymous SNVexonicENSG00000198574NAnonsynonymous SNVScore=278;Name=lod=18NA1q23.3NAName=E2F6_(H-50),HMGN3,CCNT2,PU.1,GATA-2,TAL1_(SC-12984),eGFP-JunB,ZBTB7A_(SC-34508),CTCFNANArs340012790.1136180.11930.14090.17440.03180.14720.10710.140D0.987D0.832P..0.628D1.735L-1.53D0.167D0.604D2.31613.73.471.1891.3118.1592.3162692.3162690.010.1136050.039265NA0.051NA18.4933284
11410931914109319GAexonicPRDM2NAnonsynonymous SNVexonicENSG00000116731NAnonsynonymous SNVScore=509;Name=lod=156NA1p36.21Score=875;Name=V$NKX22_01NAName=2NANANANANANANANANANA0.17T0.999D0.943D0.000D1.000D0N4.61T-0.640T0.013T3.39617.476.072.8849.14819.2083.3964673.3964670.24NANANANANA18.3333334
117843375378433753TCexonicTENM4NAnonsynonymous SNVexonicENSG00000149256NAnonsynonymous SNVScore=586;Name=lod=321NA11q14.1NANANANANANANANANANANANANA..0.913P0.891P0.000D1.000D0.935L-2.66D0.430D0.727D4.66225.75.642.3677.65916.0244.6622264.6622260.07NANANANANA18.3333334
156673569366735693GTexonicMAP2K1NAnonsynonymous SNVexonicENSG00000169032NAnonsynonymous SNVScore=620;Name=lod=441NA15q22.31NANANANANANANANANANANANANA0.25T0.688P0.491P0.000D1.000D0.825L-3.14D0.290D0.699D5.256336.032.8619.75120.5575.2558055.2558050.07NANANANANA18.3333334
3138023785138023785CTexonicNME9NAnonsynonymous SNVexonicENSG00000181322NAnonsynonymous SNVScore=295;Name=lod=21NA3q22.3Score=919;Name=V$AP1FJ_Q2NANANANANANANANANANA0.00002472NA0.01D1.0D0.997D0.000D1.000D..0.33T-0.173T0.407T3.13316.475.442.5625.68616.7443.1334963.1334960NANANANANA18.3333087
35819124458191244GAexonicDNASE1L3NAnonsynonymous SNVexonicENSG00000163687NAnonsynonymous SNVScore=458;Name=lod=97NA3p14.3NANANANArs1414778070.0001996810.001NANANANA0.00010.00130.03D1.0D1.0D0.000D1.000D3.285M0.26T0.066D0.475T3.96520.35.772.7281.14514.2893.9653823.9653820.010.0008140NANANA18.3314194
1155260382155260382CTexonicPKLRNAnonsynonymous SNVexonicENSG00000143627NAnonsynonymous SNVScore=594;Name=lod=347NA1q22NANANANArs617554310.0005990420.003NANANANA0.0010.0040.05D0.982D0.428B0.000D1.000D1.845L-5.52D0.903D0.897D3.93420.14.542.5134.7058.7033.9342723.9342720.040.0016280NANANA18.3277054
102201985522019855GAexonicMLLT10NAnonsynonymous SNVexonicENSG00000078403NAnonsynonymous SNVScore=691;Name=lod=861NA10p12.31Score=804;Name=V$IRF7_01NAName=2NArs1425548600.000199681NANA0.0014NANA0.00260.00360.29T0.257B0.039B0.000D1.000D1.78L-3.61D0.343D0.739D3.06216.225.632.6427.05813.9183.0622283.0622280.020.0036050NANANA18.3271284
X106016268106016268ATexonicRNF128NAnonsynonymous SNVexonicENSG00000133135NAnonsynonymous SNVScore=655;Name=lod=610NAXq22.3Score=802;Name=V$HNF1_CNANANArs56121637NANANANANANA0.00580.010D1.0D0.989D0.000D1.000D2.165M2.79T-0.720T0.165T3.82619.435.831.9535.98213.8543.8262983.82629800.0089180.001304NANANA18.3186154
19451725494517254CGexonicABCA4NAnonsynonymous SNVexonicENSG00000198691NAnonsynonymous SNVScore=538;Name=lod=205NA1p22.1NANANANArs761576380.001198080.003NANA0.00080.0020.00510.00670.01D0.864P0.466P0.000D1.000A2.94M-1.04T0.063D0.437T4.4623.84.91.4556.79815.2794.4600924.46009200.0067440.00227ID=COSM328066;OCCURENCE=1(pancreas)NACLINSIG=pathogenic|pathogenic|untested;CLNDBN=Stargardt_disease_1|Cone-rod_dystrophy_3|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000008328.1|RCV000008329.1|RCV000085494.1;CLNDSDB=MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|.;CLNDSDBID=C1855465:248200:ORPHA827|C1858806:604116:ORPHA1872|.18.3184894
2179400130179400130GAexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=600;Name=lod=367NA2q31.2Score=749;Name=V$STAT5A_02NANANArs562734630.002795530.005NA0.0115NA0.0010.00560.010D1.0D0.998D..1.000D2.18M0.35T-0.405T0.287T3.71218.855.522.7547.86719.8113.7115523.711552NA0.0097610.002302NANACLINSIG=probable-non-pathogenic|other;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|mult;CLNACC=RCV000040902.1|RCV000118798.2;CLNDSDB=.|.;CLNDSDBID=.|.18.3129724
13215807632158076TCexonicCOL16A1NAnonsynonymous SNVexonicENSG00000084636NAnonsynonymous SNVScore=349;Name=lod=35NA1p35.2NANANANArs1156065830.002795530.007NA0.0086NA0.0010.00510.0330.44T1.0D1.0D0.000D1.000D0.45N-3.76D0.360D0.740D2.11913.044.531.8161.7568.5932.1191632.1191630.250.0087040.002039NA0.029NA18.3125294
15506497055064970CTexonicACOT11NAnonsynonymous SNVexonicENSG00000162390NAnonsynonymous SNVScore=425;Name=lod=71NA1p32.3Score=852;Name=V$ZID_01NANANArs1482380180.003594250.0109NA0.0072NA0.0020.01330.020D1.0D1.0D0.000D1.000D3.55H1.82T-0.430T0.152T4.89828.25.272.4567.54518.8864.8984064.89840600.0202330.003631NANANA18.2889004
203550913035509130TGexonicTLDC2NAnonsynonymous SNVexonicENSG00000101342NAnonsynonymous SNVScore=439;Name=lod=81NA20q11.23Score=731;Name=V$PAX4_04NANANArs413058210.008386580.0169NA0.00430.00080.02150.01880.0230D1.0D0.993D0.000D1.000D3.32M0.18T-0.119T0.296T4.39723.34.91.8396.36812.0454.3973084.39730800.0227910.004993ID=COSM1411556;OCCURENCE=1(large_intestine)0.007NA18.2748424
14070324440703244GAexonicRLFNAnonsynonymous SNVexonicENSG00000117000NAnonsynonymous SNVScore=601;Name=lod=368NA1p34.2Score=1000;Name=V$AML1_01NAName=2NArs350424460.009384980.0288NA0.0144NA0.00820.02280.0320.01D1.0D1.0D0.000D1.000D0.975L1.12T-0.904T0.086T3.66418.626.062.8827.39720.6213.6637643.66376400.0323260.005447NA0.007NA18.2494074
165769349857693498TCexonicGPR56NAnonsynonymous SNVexonicENSG00000205336NAnonsynonymous SNVScore=550;Name=lod=229NA16q21Score=772;Name=V$PAX5_01NANANArs173794720.01697280.0358NA0.05330.00080.01120.0320.040.01D0.997D0.967D0.000D1.000D2.61M0.63T-0.627T0.103T4.221.84.91.8367.48113.7154.2003164.20031600.0347670.006142NA0.007NA18.2307664
1224482084224482084CTexonicNVLNAnonsynonymous SNVexonicENSG00000143748NAnonsynonymous SNVScore=545;Name=lod=219NA1q42.11NANANANArs346311510.01677320.0427NA0.01870.00150.02660.03340.0450.08T0.998D0.951D0.000D1.000D1.05L-3.41D0.220D0.514D5.03529.84.741.5325.85614.8785.0354575.03545700.0447670.008625NA0.014NA18.2124664
115948111959481119GTexonicOR10V1NAnonsynonymous SNVexonicENSG00000172289NAnonsynonymous SNVScore=397;Name=lod=55NA11q12.1Score=735;Name=V$LUN1_01NANANArs743984900.02855430.04570.03170.01440.02870.01740.03560.0650D1.0D0.999D0.000D1.000D3.06M4.03T-1.183T0.010T2.98115.944.362.4534.90314.9702.9813462.98134600.0429570.026124NA0.043NA18.2090764
1171162583171162583TCexonicFMO2NAnonsynonymous SNVexonicENSG00000094963NAnonsynonymous SNVScore=630;Name=lod=485NA1q24.3Score=914;Name=V$MYB_Q6NANANArs20208600.1030350.04470.0020.04760.2980.04290.06050.320D0.999D0.991D0.000D0.003P3.97H0.15T0.326D0.489T4.32422.75.442.0622.96015.1654.3242614.32426100.0475580.243985NA0.058NA18.1805754
126974401469744014CAexonicLYZNAnonsynonymous SNVexonicENSG00000090382NAnonsynonymous SNVScore=389;Name=lod=51NA12q15NAName=HEY1Name=5NArs18009730.01457670.0437NA0.02880.00080.00820.04270.07..0.977D0.982D0.000D1.000D2.54M-0.49T-0.537T0.103T2.72815.085.942.8202.44117.8672.7282012.7282010.010.0697670.01271NA0.014NA18.1771664
194613325646133256GAexonicEML2NAnonsynonymous SNVexonicENSG00000125746NAnonsynonymous SNVScore=468;Name=lod=106NA19q13.32Score=845;Name=V$USF_01NAName=6NArs72521750.1291930.10830.10320.12970.16260.13190.12540.190D1.0D0.999D0.000D0.000P3.39M4.77T-1.012T0.001T3.31117.134.742.4914.18315.2693.3111553.31115500.1326740.152973NA0.072NA17.9669594
6123122464123122464CTexonicSMPDL3ANAnonsynonymous SNVexonicENSG00000172594NAnonsynonymous SNVScore=414;Name=lod=64NA6q22.31NANAName=13NArs283856090.1006390.13720.02480.07490.05070.2270.13490.150.2T1.0D1.0D0.000D0.000P1.685L-1.84D0.187D0.676D3.25516.925.722.8576.51420.2413.2552433.25524300.1456980.046074NA0.08NA17.9155354
2211060050211060050TGexonicACADLNAnonsynonymous SNVexonicENSG00000115361NAnonsynonymous SNVScore=519;Name=lod=171Name=Metabolite levels2q34Score=793;Name=V$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
195497365354973653CTexonicLENG9NAnonsynonymous SNVexonicENSG00000182909NAnonsynonymous SNVScore=272;Name=lod=17NA19q13.42NAName=Max,AP-2gamma,Pol2,Pol2-4H8Name=8NArs357524130.002595850.008NA0.0072NANA0.00630.010.02D0.99D0.823P0.000U0.916D2.045M-0.12T-0.440T0.244T2.87815.593.481.0243.0578.9302.8776362.8776360.010.0098090.002729NANANA17.8092244
204798952747989527CTexonicKCNB1NAnonsynonymous SNVexonicENSG00000158445NAnonsynonymous SNVScore=444;Name=lod=85NA20q13.13NANANANArs342801950.005391370.0129NA0.0101NA0.00720.01150.0110D0.985D0.711P0.902N0.772D1.935M-4.79D0.720D0.903D1.99812.643.110.7091.8089.0001.998251.9982500.0104650.001816NA0.007NA17.7984684
X28361842836184CTexonicARSDNAnonsynonymous SNVexonicENSG00000006756NAnonsynonymous SNVScore=483;Name=lod=123NAXp22.33NAName=HMGN3,ZBTB7A_(SC-34508),CCNT2NANArs73632976NANANANANANA0.04270.110.01D0.983D0.883P0.000U0.000P3.97H-3.76D-0.140T0.511D4.43323.63.471.3944.70114.5314.4325614.4325610NANAID=COSM1636496;OCCURENCE=1(liver)NANA17.7906334
2209179939209179939AGexonicPIKFYVENAnonsynonymous SNVexonicENSG00000115020NAnonsynonymous SNVScore=641;Name=lod=535NA2q34NAName=CTCF,CTCF_(C-20)Name=59Score=112;Name=1357482_1_-_112rs168409130.0281550.0308NA0.01440.06510.01430.02480.0520.34T0.932P0.949D0.000D1.000D0.755N-1.12T-0.680T0.120T3.2716.984.491.0839.28711.7253.2704943.2704940.280.0284880.051975NA0.029NA17.7492454
22013322120133221CTexonicWDR35NAnonsynonymous SNVexonicENSG00000118965NAnonsynonymous SNVScore=520;Name=lod=173NA2p24.1NAName=p300_(N-15),GATA3_(SC-268),FOXA1_(C-20),c-Jun,Pol2,ERalpha_a,c-Fos,Pol2(b),p300,GR,JunD,PU.1,GATA-2Name=118NArs22936690.04193290.06660.02980.04030.04390.02760.05450.0790.32T0.978D0.632P0.000D1.000D2.53M1.88T-1.148T0.009T5.369345.292.6355.61018.2705.3687395.3687390.010.0786050.036995NA0.072NA17.6336284
1109440215109440215GAexonicGPSM2NAnonsynonymous SNVexonicENSG00000121957NAnonsynonymous SNVScore=488;Name=lod=128NA1p13.3Score=848;Name=V$CEBP_CNANANArs412796780.06888980.09840.0020.04470.12180.05320.08650.140.4T0.933P0.242B0.000D0.000P1.86L-3.35D0.103D0.586D4.60325.15.011.4898.03116.5134.6031074.60310700.098140.097821NA0.094CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038784.1;CLNDSDB=.;CLNDSDBID=.17.5502934
2152476028152476028CGexonicNEBNAnonsynonymous SNVexonicENSG00000183091NAnonsynonymous SNVScore=457;Name=lod=96NA2q23.3NAName=GATA-2,eGFP-JunD,CTCF,JunD,c-Fos,HA-E2F1,c-Jun,NRSFName=67NArs101720230.2198480.30620.2440.24780.13160.20550.28910.330.07T1.0D0.995D0.000D0.000P2.885M1.46T-1.099T0.000T2.38713.945.612.7931.49416.2702.3874162.3874160.030.3314290.138985NA0.167CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081108.3;CLNDSDB=.;CLNDSDBID=.17.4066044
1634329933432993GCexonicZSCAN32NAnonsynonymous SNVexonicENSG00000140987NAnonsynonymous SNVScore=352;Name=lod=36NA16p13.3NAName=KAP1,SETDB1NANANANANANANANANANANA0D1.0D0.997D..1.000N3.85H-2.18D0.016D0.807D1.44210.76-0.520.041-0.3502.9331.4415271.4415270NANANANANA17.3333334
X4892004648920046CTexonicCCDC120NAnonsynonymous SNVexonicENSG00000147144NAnonsynonymous SNVScore=524;Name=lod=179NAXp11.23Score=803;Name=V$ER_Q6NANANANANANANANANANA0NA0.03D1.0D0.993D0.000D0.733D1.445L..-0.340T0.296T3.60318.342.80.1371.04013.4163.6030583.6030580.02NANANANANA17.3333334
225088580050885800GAexonicSBF1NAnonsynonymous SNVexonicENSG00000100241NAnonsynonymous SNVScore=557;Name=lod=245NA22q13.33Score=903;Name=V$USF_02NANANArs3749543810.000199681NA0.001NANANA0.000041450.00020.21T0.999D0.93D0.000D0.999D2.135M2.68T-1.123T0.074T2.77715.253.221.8186.01010.0602.7774242.7774240.0300.00023NANANA17.333292
11111637064111637064CGexonicPPP2R1BNAnonsynonymous SNVexonicENSG00000137713NAnonsynonymous SNVNANA11q23.1Score=817;Name=V$HEN1_01Name=TBP,YY1,TAF1,YY1_(C-20),E2F6_(H-50),Pol2-4H8,Pol2Name=148NArs1427713260.000798722NANA0.00140.0023NA0.00020.00280.01D0.999D0.995D0.650N0.615D1.5L..-0.509T0.280T3.79219.254.311.1751.54612.0223.7916433.791643000.001363NANANA17.3331334
118891169688911696CAexonicTYRNAnonsynonymous SNVexonicENSG00000077498NAnonsynonymous SNVNAName=Freckles,Skin pigmentation11q14.3Score=929;Name=V$ZIC3_01NANANArs10426020.1234030.37180.0010.23780.01210.06340.25180.38..0.997D0.974D0.000D1.000P2.135M-5.1D-1.784T0.000T3.276176.072.8854.43615.3853.275963.275960.070.3767160.075647ID=COSM430000;OCCURENCE=1(breast)0.232CLINSIG=other|non-pathogenic|untested;CLNDBN=Skin/hair/eye_pigmentationx2c_variation_inx2c_3|Oculocutaneous_albinism_type_1A|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000003977.4|RCV000055807.1|RCV000085955.1;CLNDSDB=MedGen:OMIM|GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT|.;CLNDSDBID=C2677190:601800|NBK1166:C0268494:203100:ORPHA352731:ORPHA79431:6483008|.17.3330174
3140409837140409837GAexonicTRIM42NAnonsynonymous SNVexonicENSG00000155890NAnonsynonymous SNVScore=532;Name=lod=193NA3q23Score=783;Name=V$HTF_01NANANArs798455610.001996810.003NA0.00580.0023NA0.00320.010D1.0D0.999D0.000D0.885D0.695N0.38T-0.600T0.174T4.1421.45.822.7544.17115.6014.1395534.1395530.010.0050.000681NANANA17.3221334
99517907195179071GAexonicOMDNAnonsynonymous SNVexonicENSG00000127083NAnonsynonymous SNVScore=358;Name=lod=38NA9q22.31Score=870;Name=V$OCT1_06NANANArs346074250.001597440.006NANA0.0015NA0.00240.010.03D0.993D0.913D0.002N1.000D2.1M0.26T-0.458T0.263T4.18621.74.52.7356.34215.3644.1860664.18606600.0040710.000455NANANA17.3208624
24880960948809609CGexonicSTON1,STON1-GTF2A1LNAnonsynonymous SNVexonicENSG00000068781,ENSG00000243244NAnonsynonymous SNVScore=474;Name=lod=113NA2p16.3Score=901;Name=V$MEIS1_01NANANArs1496929740.001397760.007NANANANA0.00420.010.01D0.999D0.961D0.000D1.000D1.84L2.01T-1.101T0.086T3.16416.595.652.9413.88414.0913.1643933.16439300.0039530.000908NANANA17.3181804
82199619921996199GAexonicREEP4NAnonsynonymous SNVexonicENSG00000168476NAnonsynonymous SNVScore=403;Name=lod=58NA8p21.3NAName=ZNF263NANArs1174507500.003594250.005NA0.0058NA0.00920.00550.010.01D0.004B0.001B0.000D1.000D1.935M-2.44D-0.169T0.478T3.45517.74.131.1162.0446.4063.4547513.45475100.0056980.001589NANANA17.3171354
2189861933189861933CAexonicCOL3A1NAnonsynonymous SNVexonicENSG00000168542NAnonsynonymous SNVScore=439;Name=lod=81NA2q32.2NANANANArs357958900.004592650.0119NA0.00860.0030.0010.00440.010.13T0.5P0.491P0.000D1.000D1.61L-3.21D0.468D0.750D2.70815.026.032.8683.70420.1552.7079172.7079170.180.0061630.002951NANANA17.3108704
101882848618828486CGexonicCACNB2NAnonsynonymous SNVexonicENSG00000165995NAnonsynonymous SNVScore=395;Name=lod=54NA10p12.31NANANANArs617339680.004392970.0139NA0.01010.0008NA0.00920.020D0.999D0.963D0.001D1.000D1.65L1.97T0.105D0.473T3.17216.615.912.8134.98415.6473.1717393.1717390.010.0169770.004085NANANA17.2932564
124853890848538908GAexonicPFKMNAnonsynonymous SNVexonicENSG00000152556NAnonsynonymous SNVScore=585;Name=lod=319NA12q13.11Score=988;Name=V$EN1_01NANANArs412919710.003793930.0149NA0.00140.00080.0020.00970.020.18T0.995D0.944D0.000D1.000D1.965M-1.43T-0.053T0.454T4.54924.65.052.7939.31718.5904.549414.549410.030.0163950.003858ID=COSM1476583,COSM431170;OCCURENCE=1(breast)0.007NA17.2923384
1220193423220193423TCexonicEPRSNAnonsynonymous SNVexonicENSG00000136628NAnonsynonymous SNVScore=592;Name=lod=341NA1q41NANANANArs1140153460.004392970.0129NA0.00580.00080.00410.01520.0220.02D0.998D0.933D0.000D1.000D3.04M1.85T-0.775T0.105T4.16821.64.681.0095.76912.3374.1677264.16772600.021860.003177NA0.014NA17.2833734
161404207714042077AGexonicERCC4NAnonsynonymous SNVexonicENSG00000175595NAnonsynonymous SNVScore=289;Name=lod=20NA16p13.12NANANANArs18001240.005790730.0199NA0.00430.00080.00510.01310.020D0.937P0.585P0.000D1.000D2.715M2.44T-1.045T0.050T4.589256.162.3678.71115.9874.5889154.58891500.0174420.004324NA0.007CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116989.3;CLNDSDB=.;CLNDSDBID=.17.2828914
211587302615873026TCexonicSAMSN1NAnonsynonymous SNVexonicENSG00000155307NAnonsynonymous SNVScore=573;Name=lod=285NA21q11.2Score=836;Name=V$FAC1_01NANANArs622271650.005990420.0149NA0.02020.0008NA0.01320.0250.04D0.998D0.994D0.000D0.998D0.635N3.22T-1.010T0.066T4.16921.65.772.1944.22616.0904.1694514.1694510.020.0247380.005685NANANA17.2804954
62849956728499567TCexonicGPX5NAnonsynonymous SNVexonicENSG00000224586NAnonsynonymous SNVScore=461;Name=lod=100NA6p22.1NAName=CTCF,Rad21,SMC3_(ab9263)NANArs585543030.00619010.01990.0050.00290.00080.00310.01640.0220.01D1.0D1.0D0.000D1.000D4.575H2.43T-0.804T0.142T2.96615.892.710.8554.9916.2182.9657812.9657810.020.0217440.007263NA0.007NA17.2752894
56646039066460390GAexonicMAST4NAnonsynonymous SNVexonicENSG00000069020NAnonsynonymous SNVScore=369;Name=lod=42NA5q12.3Score=768;Name=V$PAX5_02NANANArs172214580.009784350.0239NA0.01730.00150.01120.01880.0210.01D0.999D0.994D0.000D1.000D1.04L-0.54T-0.267T0.274T4.95828.95.142.6597.29718.8054.958344.9583400.0211450.003846NA0.007NA17.2694884
125120812251208122CGexonicATF1NAnonsynonymous SNVexonicENSG00000123268NAnonsynonymous SNVScore=487;Name=lod=127NA12q13.12NANANANArs22306740.00918530.0258NA0.0187NA0.00720.0250.0310.03D0.999D0.994D0.000D1.000D2.175M0.21T-0.359T0.214T2.7715.224.792.3754.46318.2112.7701762.7701760.030.0308140.006355NA0.007NA17.2517194
168427074384270743GAexonicKCNG4NAnonsynonymous SNVexonicENSG00000168418NAnonsynonymous SNVScore=603;Name=lod=376NA16q24.1Score=797;Name=V$LUN1_01NANANArs38036410.09804310.02680.21630.12540.05980.08180.05420.210D1.0D1.0D0.000D0.000P2.36M-1.2T-1.145T0.001T4.94328.75.122.3747.57417.5484.9426664.9426660.050.0113950.041591NA0.036NA17.2409384
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
9124103523124103523AGexonicSTOMNAnonsynonymous SNVexonicENSG00000148175NAnonsynonymous SNVScore=514;Name=lod=164NA9q33.2NANANANArs412734380.0193690.0368NA0.02160.00450.03990.02880.040.02D0.115B0.322B0.000D1.000D1.53L-4.51D0.507D0.870D3.1316.464.862.0328.85613.7963.1303733.13037300.0395350.009079NA0.007NA17.2281984
6129807629129807629CTexonicLAMA2NAnonsynonymous SNVexonicENSG00000196569NAnonsynonymous SNVScore=501;Name=lod=145NA6q22.33Score=886;Name=V$HLF_01NAName=7NArs22298480.5838660.71770.63690.62390.410.59820.66780.73..0.998D0.965D0.000D0.000P2.32M-1.2T0.056D0.584D5.106325.62.7934.49919.9745.1061185.1061180.240.7265120.46709ID=COSM1440401;OCCURENCE=1(large_intestine)0.536NA17.2213214
116019729960197299GAexonicMS4A5NAnonsynonymous SNVexonicENSG00000166930NAnonsynonymous SNVScore=371;Name=lod=43NA11q12.2NANANANArs341698480.01597440.0507NA0.02590.00080.01020.03640.0590D1.0D1.0D0.000D0.961D2.93M2.9T-1.099T0.014T2.66614.874.662.5783.95013.2452.6658482.66584800.059070.013164NA0.036NA17.1871634
67390455773904557CTexonicKCNQ5NAnonsynonymous SNVexonicENSG00000185760NAnonsynonymous SNVScore=544;Name=lod=216NA6q13Score=791;Name=V$ROAZ_01NANANArs617430580.01737220.05270.0020.03030.00080.01020.03730.0590D0.075B0.055B0.503N1.000D0.69N-5.8D0.643D0.916D2.95415.855.322.4863.07218.9882.9539632.95396300.0593020.007944NA0.036NA17.1840314
27572037275720372CTexonicEVA1ANAnonsynonymous SNVexonicENSG00000115363NAnonsynonymous SNVScore=505;Name=lod=151NA2p12NAName=HA-E2F1NANArs111264720.04412940.05470.0010.0360.07640.03990.04590.070.15T1.0D0.999D0.000D1.000D2.4M0.68T-0.909T0.038T4.73226.44.792.5737.66316.1394.7324464.7324460.010.0509440.06398NA0.043NA17.1817894
81039605610396056GCexonicPRSS55NAnonsynonymous SNVexonicENSG00000184647NAnonsynonymous SNVScore=493;Name=lod=135NA8p23.1NANANANArs617431790.06829070.06160.0010.05040.18080.00510.06260.180D1.0D0.998D0.001D0.000P2.825M-3.92D-1.158T0.024T3.71118.854.22.3246.67312.2113.7113473.71134700.0626740.184067NA0.065NA17.1464594
182142499121424991CAexonicLAMA3NAnonsynonymous SNVexonicENSG00000053747NAnonsynonymous SNVScore=484;Name=lod=124NA18q11.2NANAName=63NArs172029610.04652560.07260.05160.04030.00150.07980.0640.070D1.0D0.968D..1.000D2.865M1.74T-0.949T0.024T3.08416.35.462.7405.56519.6853.0843493.08434900.0644220.013691NA0.022NA17.1323114
145995067659950676ACexonicL3HYPDHNAnonsynonymous SNVexonicENSG00000126790NAnonsynonymous SNVScore=440;Name=lod=82NA14q23.1NAName=c-Myc,ZNF263,CTCF,GR,ZEB1_(SC-25388),CTCFL_(SC-98982),PAX5-N19,HDAC2_(SC-6296),HNF4G_(SC-6558),CTCF_(SC-5916),E2F6_(H-50),E2F6,FOXA1_(C-20),HEY1,EBF1_(C-8),TAF1,Pol2,HA-E2F1,Pol2-4H8,CTCF_(C-20),PAX5-C20,Znf143_(16618-1-AP)Name=128NArs347413990.02356230.0736NA0.05190.00150.00610.07870.070D0.883P0.601P0.000D1.000D1.23L2.07T-1.199T0.006T2.85215.55.12.0398.39911.7852.8515462.85154600.060970.014178NA0.007NA17.1200634
64803632748036327ACexonicPTCHD4NAnonsynonymous SNVexonicENSG00000244694NAnonsynonymous SNVScore=869;Name=lod=4547NA6p12.3Score=1000;Name=V$MYOD_Q6Name=TBP,USF-1Name=34NArs200176519NANANANANANA0.2458NA0.08T0.141B0.063B0.000D1.000D2.045M0.33T-0.019T0.587D1.44410.773.360.5963.2908.0711.443631.443630.01NANANANANA17.0875334
213153869231538692CTexonicCLDN17NAnonsynonymous SNVexonicENSG00000156282NAnonsynonymous SNVScore=272;Name=lod=17NA21q22.11Score=775;Name=V$PAX6_01NANANArs355319570.1012380.10140.21430.09370.01290.10940.09440.180.04D0.997D0.978D0.000N0.000P2.34M-2.66D-1.012T0.011T5.306345.222.8857.54518.9515.3057445.3057440.010.088140.030413NA0.072NA17.0493934
65068300950683009TCexonicTFAP2DNAnonsynonymous SNVexonicENSG00000008197NAnonsynonymous SNVScore=860;Name=lod=4160NA6p12.3Score=807;Name=V$GRE_CNAName=4NArs786481040.07947280.11730.18150.02740.00450.07360.090.190.24T0.805P0.827P0.002N0.000P0N-4.18D0.694D0.768D1.74511.85.072.0227.81615.1241.7453531.7453530.10.0874420.018611NA0.051NA17.0385914
125271308852713088GAexonicKRT83NAnonsynonymous SNVexonicENSG00000170523NAnonsynonymous SNVScore=633;Name=lod=498NA12q13.13NAName=Rad21,CTCF,SMC3_(ab9263),CTCF_(SC-5916)Name=17NArs28576630.1277960.10340.08040.05760.15890.20960.1190.160.01D0.067B0.077B0.048U1.000D3.115M-2.54D-0.757T0.010T3.34317.254.392.1579.62112.4533.3428233.3428230.010.1119770.146164NA0.203NA16.9989564
165876812958768129CAexonicGOT2NAnonsynonymous SNVexonicENSG00000125166NAnonsynonymous SNVScore=429;Name=lod=74NA16q21Score=802;Name=V$YY1_02Name=ZNF263,c-Myc,CTCF,Pol2(phosphoS2),TBP,TCF4,GTF2F1_(RAP-74),PU.1,POU2F2,NFKB,NRSF,E2F4,HMGN3,GABP,Oct-2,TAF1,HEY1,Pol2-4H8,Pol2,Ini1NANArs115581710.04333070.1203NA0.04320.00450.06130.12180.12..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
125316594953165949CTexonicKRT76NAnonsynonymous SNVexonicENSG00000185069NAnonsynonymous SNVScore=366;Name=lod=41NA12q13.13NANANANArs122965480.137780.10140.09720.09650.08170.32210.13550.120.01D1.0D0.995D0.000D0.000P3.07M-2.99D-0.589T0.119T4.1821.64.422.3986.02017.8984.1799864.1799860.010.1212790.108034NA0.036NA16.9751544
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
36908270869082708CGexonicTMF1NAnonsynonymous SNVexonicENSG00000144747NAnonsynonymous SNVScore=559;Name=lod=250NA3p14.1NAName=GATA-2Name=85NArs15329180.05690890.15210.0010.07640.01130.06440.10630.160.01D1.0D0.995D0.000D0.000P1.87L2.15T-1.265T0.001T4.791275.832.7707.78620.1344.7909724.7909720.020.1487250.023587NA0.138NA16.9262084
148844271288442712CTexonicGALCNAnonsynonymous SNVexonicENSG00000054983NAnonsynonymous SNVScore=451;Name=lod=91NA14q31.3Score=802;Name=V$PBX1_02NANANArs343627480.07947280.1590.0050.16570.01740.09710.12440.170.11T0.83P0.532P0.000D0.000P3.005M-6.7D-1.382T0.144T3.20316.735.322.4675.29611.9663.20283.20280.010.1520530.044393NA0.058CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078206.1;CLNDSDB=.;CLNDSDBID=.16.8978804
16420140420140GAexonicMRPL28NAnonsynonymous SNVexonicENSG00000086504NAnonsynonymous SNVScore=329;Name=lod=29NA16p13.3NAName=Egr-1,E2F6_(H-50),ZBTB7A_(SC-34508)Name=10NArs31941510.1128190.1630.15080.0850.01510.17380.16270.170.07T1.0D0.982D0.000D0.000P3.13M1.83T-1.050T0.001T2.8815.594.712.1755.09613.0982.8800142.8800140.010.1696950.038955NA0.116NA16.8379384
1144994658144994658CAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=720;Name=lod=1125NA1q21.1NANAName=52NArs1664022NANANANANANA0.49980.50D1.0D1.0D..1.000D2.945M1.47T-0.625T0.209T5.72365.782.7317.70817.5005.7196245.7196240NANANA0.5NA16.8335334
1144871738144871738CAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=574;Name=lod=288NA1q21.1Score=881;Name=V$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=ZNF263,c-Myc,HA-E2F1Name=134NArs2762745NANANANANANA0.50.50.02D1.0D0.988D..1.000D1.87L2.56T-1.152T0.064T4.03120.75.32.4676.05616.4374.0314934.0314930.08NANANA0.5NA16.8333334
125588650755886507AGexonicOR6C68NAnonsynonymous SNVexonicENSG00000205327NAnonsynonymous SNVScore=374;Name=lod=44NA12q13.2NANANANArs141646704NANANANANANA0.000041180.00050.01D0.968D0.619P0.000D0.991D3.95H5.46T-1.113T0.016T2.40814.014.772.1388.16614.4462.4082912.4082910.010.0001160.000454NANANA16.8331762
125257925952579259CTexonicKRT80NAnonsynonymous SNVexonicENSG00000167767NAnonsynonymous SNVScore=456;Name=lod=95NA12q13.13Score=824;Name=V$AP4_01NAName=4NArs140425330NANANANANANA0.000049510.00010.02D0.909P0.197B0.046N0.801D-0.39N-2.34D-0.194T0.305T3.12316.443.951.2701.26711.9713.1234993.1234990.060.0001160NANANA16.8331679
1778491307849130GAexonicCNTROBNAnonsynonymous SNVexonicENSG00000170037NAnonsynonymous SNVScore=376;Name=lod=45NA17p13.1Score=796;Name=V$ARP1_01NANANArs201982090NANANANANANA0.00020.00020D0.998D0.897P0.000D1.000D0.895L0.86T-0.891T0.149T3.86519.643.481.3043.2056.2413.8649133.864913000.000227ID=COSM985731;OCCURENCE=1(endometrium)NANA16.8331334
3169099171169099171TGexonicMECOMNAnonsynonymous SNVexonicENSG00000085276NAnonsynonymous SNVScore=668;Name=lod=694NA3q26.2Score=863;Name=V$SPZ1_01NANANArs369826375NANANANANANA0.000066310.00020.01D0.99D0.766P0.002N1.000D2.095M0.81T-0.686T0.215T2.97615.924.771.0847.36711.9052.9759772.975977NA0.0002420NANANA16.8330251
51668198616681986CTexonicMYO10NAnonsynonymous SNVexonicENSG00000145555NAnonsynonymous SNVScore=519;Name=lod=172NA5p15.1NANANANArs1808969480.000199681NANA0.0014NANA0.00040.00280.05D0.998D0.885P..1.000D1.82L-0.89T0.007D0.526D3.55718.145.742.7062.22819.9023.557113.557110.020.0008310.000238NANANA16.8321024
1739168243916824CTexonicZZEF1NAnonsynonymous SNVexonicENSG00000074755NAnonsynonymous SNVScore=525;Name=lod=181NA17p13.2Score=900;Name=V$SPZ1_01NANANArs1478384420.0001996810.001NANANANA0.00050.00130.02D0.995D0.871P0.000D1.000D0.895L1.97T-1.114T0.091T5.382345.922.8047.29820.3215.3818835.3818830.10.0010470.000454NANANA16.8307864
2031288543128854AGexonicFASTKD5NAnonsynonymous SNVexonicENSG00000215251NAnonsynonymous SNVScore=564;Name=lod=261NA20p13Score=846;Name=V$CART1_01NANANArs24228570.0005990420.003NANANANA0.00110.00260.03D0.997D0.879P0.000D1.000D1.1L2.14T-1.093T0.089T3.31317.145.672.1578.60315.9083.3130863.31308600.0025580.000908NANANA16.8266754
154167968541679685GCexonicNDUFAF1NAnonsynonymous SNVexonicENSG00000137806NAnonsynonymous SNVScore=539;Name=lod=207NA15q15.1Score=895;Name=V$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
33767067937670679GAexonicITGA9NAnonsynonymous SNVexonicENSG00000144668NAnonsynonymous SNVScore=462;Name=lod=101NA3p22.2NAName=KAP1Name=39NArs617511890.0009984030.003NA0.0014NA0.0010.00350.0070.1T0.996D0.842P0.000D0.999D1.87L0.88T-0.842T0.156T4.99829.35.442.5454.36718.0544.9975124.9975120.010.0069770.000681NANANA16.8198564
191278644912786449GAexonicWDR83NAnonsynonymous SNVexonicENSG00000123154NAnonsynonymous SNVScore=497;Name=lod=139NA19p13.2Score=708;Name=V$HOX13_01Name=Pol2,Pol2-4H8Name=3NArs350929990.009384980.006NA0.0533NA0.00410.01580.040.11T0.645P0.058B0.000D0.969D1.5L0.94T-1.075T0.026T1.89912.315.882.7906.93418.9921.8985341.8985340.250.0079070.000681ID=COSM330364;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA16.8036264
8124449466124449466CTexonicWDYHV1NAnonsynonymous SNVexonicENSG00000156795NAnonsynonymous SNVScore=459;Name=lod=98NA8q24.13Score=776;Name=V$AHRARNT_02Name=c-Jun,c-FosName=38NArs38242500.4103430.31210.58630.39190.34270.43460.37970.570.04D0.99D0.659P0.000D0.000P1.5L2.24T-0.919T0.000T3.44717.675.482.5672.59313.8223.4472053.4472050.120.3519770.363141NA0.304NA16.7895564
1148702694870269ATexonicOR51S1NAnonsynonymous SNVexonicENSG00000176922NAnonsynonymous SNVNANA11p15.4Score=886;Name=V$PAX4_02Name=CTCFNANArs124171640.1427720.19980.03080.12970.06660.31190.17950.190D0.999D0.985D0.001D0.000P3.555H3.06T-1.085T0.000T2.40814.014.852.0314.87313.4092.4077782.40777800.1938110.089732NA0.138NA16.7602224
2111562875111562875CTexonicACOXLNAnonsynonymous SNVexonicENSG00000153093NAnonsynonymous SNVScore=243;Name=lod=13NA2q13NAName=NFKBNANArs773314760.01078270.0298NA0.02450.0030.00310.02180.0350.01D0.996D0.732P0.000N0.949D1.76L1.82T0.214D0.499T1.4210.694.941.4712.61512.7921.4201451.42014500.0350.008852NANANA16.7467334
429067072906707GTexonicADD1NAnonsynonymous SNVexonicENSG00000087274NAnonsynonymous SNVScore=766;Name=lod=1731NA4p16.3NANANANArs49610.2084660.20480.45240.17440.04920.20040.20190.50.02D1.0D1.0D0.000D0.000P1.975M2.05T-0.946T0.000T4.04920.85.552.6106.52119.4964.0494874.0494870.020.1951160.085565NA0.275CLINSIG=other;CLNDBN=Hypertensionx2c_salt-sensitive_essentialx2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000019936.1;CLNDSDB=.;CLNDSDBID=.16.7315174
165074592650745926CTexonicNOD2NAnonsynonymous SNVexonicENSG00000167207NAnonsynonymous SNVNANA16q12.1Score=767;Name=V$PAX5_02Name=NRSFName=11NArs20668440.0143770.0507NA0.02450.00230.0010.02270.050.01D0.999D0.901P0.993N1.000N2.32M-0.62T-0.855T0.138T3.57818.233.661.4210.5006.9143.578493.5784900.0434880.008197NA0.014CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_1x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000004957.1;CLNDSDB=.;CLNDSDBID=.16.7164454
2179650408179650408GAexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=570;Name=lod=277NA2q31.2Score=943;Name=V$EGR1_01Name=Egr-1NANArs358138710.1004390.21570.0010.14990.08620.06850.16910.230D0.999D0.951D..0.062P0.895L0.25T-1.116T0.000T2.4614.195.512.7385.61919.7842.4602172.46021700.2345350.102133NA0.13CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040075.2|RCV000125850.1;CLNDSDB=.|.;CLNDSDBID=.|.16.7139984
15526679755266797GCexonicTTC22NAnonsynonymous SNVexonicENSG00000006555NAnonsynonymous SNVScore=492;Name=lod=133NA1p32.3NAName=YY1_(C-20),Pol2NANArs6711080.1535540.23560.26390.23340.02650.07060.19880.270.05D0.999D0.994D0.000D0.000P1.905M0.17T-1.148T0.000T2.97515.924.132.2792.05715.6742.9745542.97455400.2023090.057149NA0.087NA16.6966244
115570301155703011GAexonicOR5I1NAnonsynonymous SNVexonicENSG00000167825NAnonsynonymous SNVScore=321;Name=lod=27NA11q12.1NANANANArs619959290.02016770.0577NA0.0360.00450.01230.04120.0530.01D0.977D0.46P0.000D1.000D4.135H-0.04T-0.190T0.119T2.2513.484.782.3394.09515.6672.2502362.25023600.0530970.009773NANANA16.6813364
89865696698656966GTexonicMTDHNAnonsynonymous SNVexonicENSG00000147649NAnonsynonymous SNVScore=519;Name=lod=171NA8q22.1Score=741;Name=V$MYOGNF1_01Name=TAF7_(SQ-8)Name=148NArs178543730.02476040.0547NA0.02740.00080.05010.05430.060.17T0.995D0.888P0.042N0.991D1.04L2.88T-1.164T0.007T4.66125.75.482.5673.47617.1334.6606414.6606410.120.0490580.010199ID=COSM454990;OCCURENCE=1(breast)0.058NA16.6752754
224356851243568512CTexonicTTLL12NAnonsynonymous SNVexonicENSG00000100304NAnonsynonymous SNVScore=409;Name=lod=61NA22q13.2Score=788;Name=V$HTF_01NANANArs340740340.2024760.24650.23510.16430.05980.34360.22970.260D0.999D0.986D0.000D0.000P2.585M3.12T-1.153T0.000T4.26522.35.312.4665.54618.9684.2649744.26497400.2375580.087381NA0.159NA16.6195754
115795849757958497TCexonicOR9Q2NAnonsynonymous SNVexonicENSG00000186513NAnonsynonymous SNVScore=395;Name=lod=54NA11q12.1Score=828;Name=V$ATF_01NANANArs343372920.2038740.24060.07340.29390.28060.13290.23960.290D0.993D0.936D0.000D0.000P4.04H0.02T-1.137T0.000T3.741195.082.2644.98614.4673.7412883.74128800.2621040.282826NA0.232NA16.5910294
225054666650546666CTexonicMOV10L1NAnonsynonymous SNVexonicENSG00000073146NAnonsynonymous SNVScore=426;Name=lod=72NA22q13.33Score=849;Name=V$HMX1_01NANANArs38109710.2468050.23460.2480.38330.12250.32920.28550.340D1.0D0.96D0.000D0.000P2.215M0.91T-1.018T0.000T3.5718.24.22.4802.47010.4013.5701453.57014500.2386050.150931NA0.188NA16.5746284
1187518898751889CGexonicST5NAnonsynonymous SNVexonicENSG00000166444NAnonsynonymous SNVScore=564;Name=lod=262NA11p15.4Score=810;Name=V$IRF1_01Name=Egr-1,SMC3_(ab9263),ELF1_(SC-631),CTCFL_(SC-98982),CTCFNANArs37941530.2801520.43540.34720.45390.01590.28530.40040.440.01D0.998D0.852P0.000D0.000P2.045M2.92T-0.938T0.000T4.74526.56.172.9412.75620.8794.7448534.74485300.4387090.090743NA0.319NA16.5588244
158257487982574879TCexonicFAM154BNAnonsynonymous SNVexonicENSG00000188659NAnonsynonymous SNVScore=300;Name=lod=22NA15q25.2Score=919;Name=V$NFKB_CName=NFKB,CTCFNANArs116301970.2348240.28730.16470.170.1460.41920.25350.30.33T1.0D0.998D0.000D0.000P2.67M2.16T-1.009T0.000T3.4317.63.91.7516.25513.1533.4298383.42983800.2556980.167272NA0.246NA16.5368354
1103379918103379918GAexonicCOL11A1NAnonsynonymous SNVexonicENSG00000060718NAnonsynonymous SNVScore=603;Name=lod=376Name=Glaucoma (primary open-angle)1p21.1NANANANArs37538410.4966050.61230.70340.7550.04920.58590.59160.730.09T0.935P0.715P0.000D0.000P2.75M-4.09D0.969D0.915D4.10721.25.752.7169.36519.9604.1072444.1072440.120.6116280.139582NA0.348NA16.5178054
121864905718649057CTexonicPIK3C2GNAnonsynonymous SNVexonicENSG00000139144NAnonsynonymous SNVScore=601;Name=lod=371NA12p12.3NANANANArs123122660.3744010.24250.30460.3660.50080.41720.3560.440.04D1.0D0.985D0.000D0.000P2.415M-1.55D-1.157T0.000T4.49924.14.372.7245.38416.7234.498894.4988900.225620.444353NA0.406NA16.5092134
5118811533118811533GAexonicHSD17B4NAnonsynonymous SNVexonicENSG00000133835NAnonsynonymous SNVScore=592;Name=lod=340NA5q23.1Score=887;Name=V$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$GATA1_04NANANArs21859130.2034740.30120.33430.2450.01820.18920.25980.350.02D1.0D1.0D0.000D0.000P2.44M2.32T-1.062T0.000T4.51324.36.172.3717.28316.8224.5128884.5128880.020.2920930.058103ID=COSM147049;OCCURENCE=1(stomach)0.174NA16.4802404
1155106885510688TCexonicOR52D1NAnonsynonymous SNVexonicENSG00000181609NAnonsynonymous SNVScore=278;Name=lod=18NA11p15.4NAName=Pol2(b)NANArs71019190.1543530.31110.03970.27670.05670.15640.26110.320D1.0D0.99D0.000D0.000P3.255M8.52T-0.783T0.000T3.45517.75.582.3432.09514.7233.4548923.45489200.3219690.096547NA0.275NA16.4391644
93248025132480251ATexonicDDX58NAnonsynonymous SNVexonicENSG00000107201NAnonsynonymous SNVScore=414;Name=lod=64NA9p21.1Score=752;Name=V$STAT5A_02NAName=4NArs172172800.05670930.13620.01290.10090.00680.05620.11070.150.42T0.973D0.766P0.000D0.007P2.435M1.02T-1.054T0.001T4.17221.64.672.0511.64513.7954.1721544.1721540.030.1474420.032229NA0.123NA16.4389914
35810916258109162GAexonicFLNBNAnonsynonymous SNVexonicENSG00000136068NAnonsynonymous SNVScore=391;Name=lod=52NA3p14.3NAName=ZNF274NANArs11313560.5461260.28030.91870.47260.47580.58280.37320.910.06T1.0D0.999D0.000D0.000P2.105M-1.96D-0.962T0.000T3.72518.925.081.5379.86915.2233.7253313.7253310.010.2438370.411484NA0.457NA16.4359964
193634221236342212CTexonicNPHS1NAnonsynonymous SNVexonicENSG00000161270NAnonsynonymous SNVScore=295;Name=lod=21NA19q13.12Score=760;Name=V$PAX5_01Name=Rad21,ELF1_(SC-631),CTCF,JunD,Pol2,CTCF_(SC-5916)Name=13NArs38149950.2919330.31110.59820.34440.0560.23820.31480.630.91T0.999D0.973D0.000D0.000P1.22L-0.18T-1.004T0.000T3.69118.755.922.8282.55517.8963.6906273.6906270.050.3055810.09192NA0.275NA16.4018524
34868248048682480CAexonicCELSR3NAnonsynonymous SNVexonicENSG00000008300NAnonsynonymous SNVScore=478;Name=lod=117NA3p21.31NANANANANANANANANANANANANA0.07T1.0D0.998D..1.000D3.585H1.25T-0.166T0.336T5.056305.152.4027.46518.6215.0558485.0558480.01NANANANANA16.3333334
176687269266872692AGexonicABCA8NAnonsynonymous SNVexonicENSG00000141338NAnonsynonymous SNVScore=415;Name=lod=65NA17q24.2Score=746;Name=V$NRSF_01NANANArs201426674NANANANANANANANA0.01D1.0D0.996D0.000D1.000D1.845L0.52T-0.650T0.261T2.14913.142.720.6225.6888.8612.1491092.1491090.01NANANANANA16.3333334
65649782656497826TCexonicDSTNAnonsynonymous SNVexonicENSG00000151914NAnonsynonymous SNVScore=657;Name=lod=624NA6p12.1NANANANANANANANANANANA0.00002474NA0.18T0.865P0.824P0.000D0.817N1.87L0.81T0.074D0.532D2.58514.615.692.3053.6858.0882.585422.585420.03NANANANANA16.3333087
214145589841455898TCexonicDSCAMNAnonsynonymous SNVexonicENSG00000171587NAnonsynonymous SNVScore=433;Name=lod=77NA21q22.2NANANANANANANANANANANA0.00009978NA0.43T0.997D0.992D0.000D1.000D0.52N0.43T-0.840T0.201T4.21821.95.472.0727.91615.5684.2176314.2176310.01NANANANANA16.3332336
1014052611405261GAexonicADARB2NAnonsynonymous SNVexonicENSG00000185736NAnonsynonymous SNVScore=539;Name=lod=207NA10p15.3Score=816;Name=V$RFX1_01NANANANANANANANANANA0.0001NA0.36T0.148B0.171B0.000D1.000D1.955M1.95T-1.089T0.072T0.2285.2315.242.4457.43118.8510.228146NA0.59NANANANANA16.3332334
7150389678150389678TCexonicGIMAP2NAnonsynonymous SNVexonicENSG00000106560NAnonsynonymous SNVNANA7q36.1NAName=CTCFName=2NArs368046535NANANANANANA0.000024740.00010.01D1.0D0.998D0.001D0.863N3.64H0.01T-0.286T0.492T2.68114.932.931.6130.7047.6652.6814342.68143400.0001160NANANA16.3331927
9116053252116053252CTexonicPRPF4NAnonsynonymous SNVexonicENSG00000136875NAnonsynonymous SNVScore=525;Name=lod=181NA9q32NANANANArs199753287NANANANANANA0.00030.00010.02D0.999D0.987D0.000D1.000D1.515L0.13T-0.450T0.331T4.78626.95.822.7527.10917.2554.7862274.7862270.010.0001160NANANA16.3329174
153002535830025358GCexonicTJP1NAnonsynonymous SNVexonicENSG00000104067NAnonsynonymous SNVScore=426;Name=lod=72NA15q13.1NANANANArs2013156050.0001996810.001NANANANA0.00010.011..1.0D0.999D0.000D1.000D3.235M3.83T-1.081T0.067T5.139325.542.7519.81319.8345.1392715.1392710.010.0002440.000534NA0.007NA16.3319894
191010626010106260GAexonicCOL5A3NAnonsynonymous SNVexonicENSG00000080573NAnonsynonymous SNVScore=463;Name=lod=102NA19p13.2NANANANArs146164473NANANANANANA0.00080.00090.13T0.805P0.575P0.184N0.802D2.335M-4.06D0.981D0.877D3.216.714.011.2520.37211.3303.1998473.1998470.210.000930.000454NANANA16.3316034
161572965015729650CTexonicKIAA0430NAnonsynonymous SNVexonicENSG00000166783NAnonsynonymous SNVScore=532;Name=lod=193NA16p13.11NANANANArs1924380530.0001996810.001NANANANA0.00040.00130.01D0.999D0.913D0.001D1.000D1.79L..-0.189T0.399T4.86927.95.912.7932.85720.2994.8694324.8694320.010.0006030.000254NANANA16.3313304
63985941539859415AGexonicDAAM2NAnonsynonymous SNVexonicENSG00000146122NAnonsynonymous SNVScore=526;Name=lod=183NA6p21.2Score=785;Name=V$COMP1_01NANANArs2002870860.0001996810.001NANANANA0.00170.00190.26T0.858P0.687P0.000D1.000D2.215M-0.02T-0.684T0.246T2.46614.25.412.2727.05314.5662.465852.465850.310.001910.000493NANANA16.3287234
81761180917611809GCexonicMTUS1NAnonsynonymous SNVexonicENSG00000129422NAnonsynonymous SNVScore=512;Name=lod=160NA8p22NANANANArs1870727990.001797120.002NA0.0101NANA0.00110.010D1.0D1.0D0.000D1.000D1.1L0.77T-0.420T0.279T3.6618.615.22.8786.39318.8933.6601873.66018700.0015740.000261NANANA16.3286594
103181067931810679AGexonicZEB1NAnonsynonymous SNVexonicENSG00000148516NAnonsynonymous SNVScore=736;Name=lod=1301NA10p11.22NAName=FOXA1_(SC-101058),CEBPBNANArs1411946280.001198080.002NA0.0029NA0.0020.00250.00280.21T0.996D0.987D0.000D1.000D1.95M3.13T-1.168T0.063T0.7578.0083.190.4572.26810.3070.756835NA0.860.0024420NANANA16.3263914
159269037992690379AGexonicSLCO3A1NAnonsynonymous SNVexonicENSG00000176463NAnonsynonymous SNVScore=525;Name=lod=182NA15q26.1NANANAScore=108;Name=853106_0_-_108rs1411874630.001198080.003NANANA0.00310.00220.00341T0.991D0.978D0.000D1.000D0.465N1.21T-1.047T0.109T2.7215.066.032.3088.74016.5582.720462.720460.160.0033740.00091NANANA16.3247594
172916151729161517GAexonicATAD5NAnonsynonymous SNVexonicENSG00000176208NAnonsynonymous SNVScore=340;Name=lod=32NA17q11.2NANANANArs1479094440.0005990420.003NANANANA0.00280.0110D0.999D0.937D0.129N0.682D1.955M2.25T-0.917T0.103T0.6667.5665.772.8852.62014.5260.665682NA00.004190.001589NA0.007NA16.3233434
168962032889620328GAexonicSPG7NAnonsynonymous SNVexonicENSG00000197912NAnonsynonymous SNVScore=509;Name=lod=156NA16q24.3Score=809;Name=V$PAX4_01Name=c-MycNANArs129600.1058310.1660.1310.11240.00980.14310.15090.190.42T0.818P0.258B0.000D0.000P0.505N-1.69D-1.051T0.001T4.26422.25.212.4239.42317.7764.2640344.2640340.050.1938820.037534NA0.087CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118410.2;CLNDSDB=.;CLNDSDBID=.16.3225514
176951969519TCexonicRPH3ALNAnonsynonymous SNVexonicENSG00000181031NAnonsynonymous SNVScore=437;Name=lod=80NA17p13.3Score=741;Name=V$MEF2_04NANANArs1440699850.001597440.005NA0.0043NANA0.00290.010.47T0.974D0.969D0.000D0.606N2.075M..-0.761T0.164T3.07616.273.531.8562.4088.7523.0762043.07620400.0041860.000908NANANA16.3212474
177236797372367973TCexonicGPR142NAnonsynonymous SNVexonicENSG00000257008NAnonsynonymous SNVScore=556;Name=lod=243NA17q25.1NANANANArs1485147790.001597440.005NA0.00290.0008NA0.00280.010.01D0.983D0.933D0.000D0.995D1.5L1.15T-0.879T0.124T4.61625.24.992.1885.84814.4354.6159134.6159130.030.0053490.001135NANANA16.3201844
182910115629101156TGexonicDSG2NAnonsynonymous SNVexonicENSG00000046604NAnonsynonymous SNVScore=387;Name=lod=50NA18q12.1Score=880;Name=V$FREAC4_01NANANArs1911432920.001397760.005NA0.0014NA0.0010.00540.010.01D0.05B0.03B0.003U1.000D3.32M0.02T-0.566T0.226T0.3225.7463.160.9743.0888.7510.322092NA0.010.0078810.002403ID=COSM1580808;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)NACLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037307.1|RCV000124794.1;CLNDSDB=.|.;CLNDSDBID=.|.16.3150524
12121416650121416650ACexonicHNF1ANAnonsynonymous SNVexonicENSG00000135100NAnonsynonymous SNVScore=479;Name=lod=118Name=Cholesterol, total,Gamma gluatamyl transferase levels,LDL cholesterol12q24.31Score=755;Name=V$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
1978762978762GAexonicAGRNNAnonsynonymous SNVexonicENSG00000188157NAnonsynonymous SNVScore=381;Name=lod=47NA1p36.33Score=962;Name=V$MSX1_01NANANArs1382889520.002995210.0099NA0.00430.0015NA0.00830.0130.51T0.991D0.949D0.000D1.000D0.49N3.85T-0.773T0.014T3.17716.634.762.1953.20517.7823.1774023.1774020.220.0125670.002505NANANA16.3025664
147205470872054708GAexonicSIPA1L1NAnonsynonymous SNVexonicENSG00000197555NAnonsynonymous SNVScore=509;Name=lod=156NA14q24.2Score=985;Name=V$STAT3_02NANANArs786212090.004193290.0129NA0.00290.00080.00510.00830.020.29T0.997D0.968D0.000D1.000D1.59L-1.1T-0.252T0.390T4.15421.55.482.7227.84119.7114.1539114.1539110.140.0108140.001589NANANA16.3013194
67817275078172750ACexonicHTR1BNAnonsynonymous SNVexonicENSG00000135312NAnonsynonymous SNVScore=591;Name=lod=335NA6q14.1NANAName=58NArs1300600.003394570.0129NA0.00290.00080.0010.00930.013..0.666P0.518P0.001D1.000D1.94M1.09T-1.028T0.103T3.52417.995.272.2169.03714.5223.5241073.52410700.0134880.003631NANANA16.2976454
173343031333430313TCexonicRAD51DNAnonsynonymous SNVexonicENSG00000185379,ENSG00000267618NAnonsynonymous SNVScore=558;Name=lod=248NA17q12Score=714;Name=V$NRSF_01NANANArs283632840.004392970.0109NA0.013NA0.0020.01140.0170.38T1.0D0.999D0.000D1.000D1.665L1.04T-0.561T0.245T2.09612.964.922.0722.36913.5122.0956982.0956980.010.016860.004539NA0.014NA16.2941734
8143816828143816828GAexonicTHEM6NAnonsynonymous SNVexonicENSG00000130193NAnonsynonymous SNVScore=325;Name=lod=28NA8q24.3NANANANArs115405440.002196490.008NA0.0029NA0.0010.01940.0130.05D1.0D1.0D0.000D1.000D1.67L0.93T-0.814T0.152T1.49210.944.072.1042.71211.6461.4916891.4916890.020.0127040.001366NANANA16.2932294
10100017453100017453TGexonicLOXL4NAnonsynonymous SNVexonicENSG00000138131NAnonsynonymous SNVScore=420;Name=lod=68NA10q24.2Score=847;Name=V$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
11114393652114393652CTexonicNXPE1NAnonsynonymous SNVexonicENSG00000095110NAnonsynonymous SNVScore=479;Name=lod=118NA11q23.2NANAName=5NArs108916920.3722040.3370.66870.30690.25340.30980.35980.660D1.0D1.0D0.000D0.000P3.435M-0.73T-0.857T0.000T4.33222.84.462.4085.58515.4194.3321854.33218500.3448560.27124ID=COSM1179754;OCCURENCE=1(prostate)0.428NA16.2916774
5137522945137522945CTexonicKIF20ANAnonsynonymous SNVexonicENSG00000112984NAnonsynonymous SNVScore=695;Name=lod=894NA5q31.2NANANANArs31727470.005391370.0169NA0.0115NA0.0020.01090.0160.01D1.0D0.997D0.001D1.000D1.7L-0.46T-0.190T0.339T5.0229.65.532.7632.26919.8415.0203295.0203290.060.0158140.002497NA0.007NA16.2897194
79354015393540153GCexonicGNGT1NAnonsynonymous SNVexonicENSG00000127928NAnonsynonymous SNVScore=284;Name=lod=19NA7q21.3NAName=STAT3,c-Fos,CEBPB,p300_(N-15),c-JunName=92NArs172438260.04273160.0229NA0.02590.13010.0010.02140.0650.11T0.643P0.571P0.000D1.000D..1.9T-1.090T0.113T3.63318.485.62.8096.79218.7593.6325473.6325470.04NANANA0.051NA16.2890334
12131311749131311749ACexonicSTX2NAnonsynonymous SNVexonicENSG00000111450NAnonsynonymous SNVScore=472;Name=lod=110NA12q24.33NANANANArs1379289070.004992010.0169NA0.00430.00150.00310.01450.0250.06T0.993D0.941D0.000D1.000D2.925M1.63T-0.788T0.087T2.29513.634.651.7435.64712.0742.2950382.29503800.0254650.005674NA0.014NA16.2764684
163056934930569349CTexonicZNF764NAnonsynonymous SNVexonicENSG00000169951,ENSG00000260869NAnonsynonymous SNVScore=490;Name=lod=131NA16p11.2Score=800;Name=V$PAX6_01Name=CtBP2,CTCF,Pol2Name=9NArs617447160.00918530.0239NA0.01870.00150.00720.02240.0220.01D1.0D0.968D0.005N0.986N2.395M4.24T-1.117T0.014T5.216332.390.593-0.0427.2265.216365.2163600.0216430.003414NA0.08NA16.2653904
222448773924487739GAexonicCABIN1NAnonsynonymous SNVexonicENSG00000099991NAnonsynonymous SNVScore=546;Name=lod=220NA22q11.23NAName=Pol2,E2F6_(H-50),GATA-1,CTCFNANArs1179083850.007987220.0328NA0.00720.0015NA0.01780.040.07T1.0D0.938D0.000D1.000D1.78L1.54T-1.040T0.049T5.483355.042.5317.91817.8215.4827685.4827680.010.018140.002951NANANA16.2645934
15513458555134585AGexonicMROH7NAnonsynonymous SNVexonicENSG00000184313,ENSG00000271723NAnonsynonymous SNVScore=321;Name=lod=27NA1p32.3NAName=CTCFNANArs23043140.03274760.03080.01790.03750.04080.03580.02420.050.02D0.998D0.973D0.014N1.000D1.795L3.25T-1.219T0.010T1.55311.154.172.0092.5919.3761.553131.5531300.0223790.0309NA0.014NA16.2559544
194422311344223113GAexonicIRGCNAnonsynonymous SNVexonicENSG00000124449NAnonsynonymous SNVScore=389;Name=lod=51NA19q13.31NANANANArs115558910.05091850.02490.13790.02020.01060.06440.04290.130.01D0.985D0.911D0.000D0.001P2.15M0.85T-1.000T0.004T4.71326.24.672.7095.62313.0294.7130964.71309600.0189670.012035NA0.072NA16.2465664
12122622795122622795AGexonicMLXIPNAnonsynonymous SNVexonicENSG00000175727NAnonsynonymous SNVScore=591;Name=lod=337NA12q24.31NANAName=4NArs745802940.008985620.0348NA0.0086NA0.00410.02860.0420.71T0.013B0.03B0.000D1.000D..-4.54D0.152D0.497T2.65214.835.151.9453.92313.5462.65242.65240.930.0415690.008506NA0.014NA16.2283644
1226125385226125385GAexonicLEFTY2NAnonsynonymous SNVexonicENSG00000143768NAnonsynonymous SNVScore=503;Name=lod=148NA1q42.12Score=732;Name=V$HOX13_01NANANArs22954180.05111820.03080.10520.05040.00080.08490.04240.090D1.0D1.0D0.000N0.000P2.25M-0.04T-0.636T0.032T3.16616.594.181.2718.72913.5593.1660053.1660050.010.034070.01044NA0.007NA16.2260634
211552492115524921CTexonicLIPINAnonsynonymous SNVexonicENSG00000188992NAnonsynonymous SNVScore=243;Name=lod=13NA21q11.2NANANANArs743693370.09424920.01990.250.12970.00680.10330.07110.250.13T0.998D0.939D0.000D0.991P2.085M-2.4D-1.300T0.001T4.45923.85.162.7791.92814.8694.458914.4589100.0194350.007062NA0.036NA16.2228984
3113737568113737568GAexonicKIAA1407NAnonsynonymous SNVexonicENSG00000163617NAnonsynonymous SNVScore=363;Name=lod=40NA3q13.31NANANANArs176036490.01337860.0408NA0.02450.00230.00610.02950.0420D1.0D0.977D0.005N1.000D2.175M0.9T-0.574T0.129T3.90619.864.832.7262.28715.5973.9058783.90587800.0420930.007263NA0.007NA16.2209404
12557298425572984TGexonicC1orf63NAnonsynonymous SNVexonicENSG00000117616NAnonsynonymous SNVNANA1p36.11NAName=Sin3Ak-20,ZNF263Name=7NArs344845140.01537540.0427NA0.0072NA0.02970.03440.040D0.999D0.994D0.001D1.000N2.095M0.11T-0.583T0.132T4.86727.8-4.75-0.868-1.80513.2054.8670854.86708500.0398840.006128NANANA16.2163494
6116950734116950734GAexonicRSPH4ANAnonsynonymous SNVexonicENSG00000111834NAnonsynonymous SNVScore=497;Name=lod=139NA6q22.1Score=859;Name=V$S8_01Name=PU.1Name=4NArs69275670.2048720.21570.28570.20890.10890.23720.21350.290.05D0.798P0.229B0.000N0.000P3.24M1.16T-0.839T0.085T4.02720.75.21.5825.66013.1284.0271714.02717100.1952330.120064NA0.217NA16.2089004
195185029051850290GAexonicETFBNAnonsynonymous SNVexonicENSG00000105379NAnonsynonymous SNVScore=481;Name=lod=120NA19q13.41Score=863;Name=V$SREBP1_01Name=Pol2NANArs11304260.4197280.56860.28870.4510.4720.30880.4980.560.03D0.999D0.835P0.003N0.023P1.745L-1.68D-0.891T0.000T4.229225.22.5733.68211.6544.2292914.2292910.030.5587210.508852NA0.493CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079961.1;CLNDSDB=.;CLNDSDBID=.16.2080124
129313934893139348AGexonicPLEKHG7NAnonsynonymous SNVexonicENSG00000187510NAnonsynonymous SNVScore=529;Name=lod=189NA12q22NANANANArs177903100.01777160.0447NA0.02740.00230.02250.03270.0590.35T1.0D0.993D0.000D1.000D2.215M-0.08T-0.752T0.078T4.21521.95.212.0878.16215.0384.2154194.21541900.0584880.012256NA0.029NA16.1974454
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
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
2209108317209108317CTexonicIDH1NAnonsynonymous SNVexonicENSG00000138413NAnonsynonymous SNVScore=556;Name=lod=242NA2q34Score=834;Name=V$RFX1_02NANANArs342188460.04932110.04770.00690.04470.08930.0440.050.0810.13T0.992D0.984D0.000D1.000D1.705L-1.08T-0.586T0.083T3.96820.35.522.7626.12619.7973.9680293.9680290.080.053140.080799ID=COSM97131;OCCURENCE=8(thyroid),1(large_intestine)0.051NA16.1824934
29880943298809432TCexonicVWA3BNAnonsynonymous SNVexonicENSG00000168658NAnonsynonymous SNVScore=361;Name=lod=39NA2q11.2NANANANArs747359680.01677320.0666NA0.0115NA0.00920.04440.080D1.0D1.0D0.000D0.581N2.74M1.64T-0.290T0.151T2.82315.45.52.0965.14014.5902.8226942.82269400.0573320.014623NA0.022NA16.1650014
3133475812133475812GAexonicTFNAnonsynonymous SNVexonicENSG00000091513NAnonsynonymous SNVScore=333;Name=lod=30Name=Alcohol consumption3q22.1NANANANArs17998990.03055110.0706NA0.03890.00150.05420.05320.080.06T0.999D0.974D0.001N0.890D1.825L1.37T-0.994T0.014T1.70911.674.581.5372.83413.1141.709191.709190.050.0475580.009986NA0.022CLINSIG=unknown;CLNDBN=Iron_deficiency_anemia;CLNREVSTAT=single;CLNACC=RCV000013457.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0162316:8752200216.1619754
34973795449737954GAexonicRNF123NAnonsynonymous SNVexonicENSG00000164068NAnonsynonymous SNVScore=605;Name=lod=382NA3p21.31NAName=CTCFNANArs356202480.02236420.07160.0060.02590.00680.00720.04970.070.23T0.999D0.978D0.001D1.000D0.695N-0.63T-0.697T0.063T4.09521.15.42.5299.05318.1474.0954354.0954350.080.0605810.009759NA0.014NA16.1514524
3120500093120500093CTexonicGTF2E1NAnonsynonymous SNVexonicENSG00000153767NAnonsynonymous SNVScore=522;Name=lod=177NA3q13.33NAName=MEF2A,p300,PU.1,ELF1_(SC-631),POU2F2,IRF4_(M-17),BCL11A,PAX5-N19,NFKB,TCF12,c-Jun,YY1_(C-20),Oct-2,EBF1_(C-8),SP1,BATF,Pol2-4H8,Pol2,SRF,c-Fos,Egr-1,PAX5-C20Name=108NArs37324010.1681310.03880.48510.33430.00910.07160.11320.480.76T0.845P0.503P0.000D0.000P2.2M0.9T-0.942T0.000T2.78615.285.122.6657.00113.4692.7861652.7861650.40.0388370.01566NA0.152NA16.1424964
86779612067796120CGexonicMCMDC2NAnonsynonymous SNVexonicENSG00000178460NAnonsynonymous SNVScore=565;Name=lod=263NA8q13.1Score=886;Name=V$CEBPA_01NANANArs173324100.02216450.07850.0010.02590.00450.00720.04950.0760.53T0.946P0.705P0.000D0.999D2.005M1.12T-1.152T0.011T3.5618.154.682.7851.13111.6203.5602633.56026300.0758140.018838NA0.007NA16.1295194
63065278130652781CTexonicPPP1R18NAnonsynonymous SNVexonicENSG00000146112NAnonsynonymous SNVScore=428;Name=lod=73NA6p21.33NAName=Pol2,NFKBName=85NArs92621430.0193690.0795NA0.02020.0023NA0.05940.10.3T0.999D0.927D0.069N0.950D0.975L0.51T-0.928T0.164T4.00720.55.12.3693.62417.2664.0069714.0069710.070.1036490.018802NA0.094NA16.0907844
1719438801943880CGexonicDPH1NAnonsynonymous SNVexonicENSG00000108963NAnonsynonymous SNVScore=272;Name=lod=17NA17p13.3NANAName=3NArs353948230.04512780.07650.0010.09510.00610.07570.08030.0880.03D0.77P0.593P0.000D0.000P2.69M0.94T-0.894T0.011T2.87515.585.372.5292.97513.482.8753112.8753110.060.0879460.019892NA0.058NA16.0885874
145544840955448409GCexonicWDHD1NAnonsynonymous SNVexonicENSG00000198554NAnonsynonymous SNVScore=570;Name=lod=276NA14q22.2Score=808;Name=V$FREAC3_01NANANArs617412240.0287540.1113NA0.0360.00230.00410.0670.110.21T1.0D1.0D0.000D0.000P3.02M0.28T-0.671T0.041T4.53924.55.712.7087.68719.9284.5388034.53880300.0973260.018384NA0.014NA16.0577074
223153587231535872GCexonicPLA2G3NAnonsynonymous SNVexonicENSG00000100078NAnonsynonymous SNVScore=432;Name=lod=76NA22q12.2Score=770;Name=V$ROAZ_01NANANArs20747350.1673320.08050.380.12390.00530.28730.12560.360.06T0.999D0.984D0.000D0.000P2.72M1.52T-1.015T0.000T4.24822.14.161.1842.77710.8824.2476134.2476130.030.0730230.023604NA0.08NA16.0542104
129892783098927830CGexonicTMPONAnonsynonymous SNVexonicENSG00000120802NAnonsynonymous SNVScore=500;Name=lod=143NA12q23.1Score=813;Name=V$BACH1_01Name=HNF4G_(SC-6558),HNF4A,CEBPB,CTCF,eGFP-JunDName=66NArs174593340.05890580.10930.0010.04030.0030.15540.08750.110.14T0.919P0.45P0.054N0.000P0.695N0.24T-1.063T0.004T2.46414.25.962.8322.14715.9222.4639252.46392500.0965120.021562NA0.13CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037747.1|RCV000125552.1;CLNDSDB=.|.;CLNDSDBID=.|.16.0400214
2242371101242371101CTexonicFARP2NAnonsynonymous SNVexonicENSG00000006607NAnonsynonymous SNVScore=558;Name=lod=246Name=Chronic lymphocytic leukemia2q37.3NANANANArs7579780.08047120.09740.02380.08070.10820.08380.09310.110.28T1.0D1.0D0.000D0.000P1.575L-2.22D-0.625T0.057T4.076214.792.3825.82818.2564.0756614.07566100.1117440.096686NA0.065NA16.0310894
67579730275797302CTexonicCOL12A1NAnonsynonymous SNVexonicENSG00000111799NAnonsynonymous SNVScore=584;Name=lod=316NA6q13NANANANArs9705470.7118610.77440.67960.77380.68310.67590.74510.790.05D1.0D0.999D0.000D0.000P1.65L-2.08D0.557D0.755D5.487355.752.7197.46319.5485.486795.486790.080.7842810.659067ID=COSM150125;OCCURENCE=1(stomach)0.826NA16.0295524
108192670281926702GAexonicANXA11NAnonsynonymous SNVexonicENSG00000122359NAnonsynonymous SNVScore=579;Name=lod=301NA10q22.3Score=846;Name=V$OLF1_01NANANArs10495500.3921730.45030.64290.46540.15510.34250.4470.650.01D1.0D0.998D0.000D0.000P3.89H2.64T-0.929T0.000T4.48924.14.351.3607.4749.1804.4889114.48891100.4094190.202224NA0.283NA16.0266144
1076220097622009GAexonicITIH5NAnonsynonymous SNVexonicENSG00000123243NAnonsynonymous SNVScore=502;Name=lod=146NA10p14NANANANArs412983730.05930510.11130.0040.10520.01440.0910.11040.110D1.0D0.999D0.000D0.002P..-2.54D-0.517T0.092T3.54918.15.232.4435.88314.4073.549073.549070.010.1079070.023377NA0.058NA16.0037264
63882102538821025CTexonicDNAH8NAstopgainexonicENSG00000124721NAstopgainScore=399;Name=lod=56NA6p21.2NAName=MafK_(ab50322)NANANANANANANANANANANA0.01D....0.009N1.000A........13.229475.692.6832.13913.06713.22871613.2287160.16NANANANANA16
3100074068100074068CTexonicNIT2NAstopgainexonicENSG00000114021NAstopgainScore=387;Name=lod=50NA3q12.2NAName=GATA-1NANArs2016683260.0001996810.001NANANANANA0.00130.03D....0.000D1.000D........4.52624.45.782.7336.80020.0124.5258024.5258020.06NANANANANA15.999
1151011325151011325CTexonicBNIPLNAnonsynonymous SNVexonicENSG00000163141NAnonsynonymous SNVScore=423;Name=lod=70NA1q21.3Score=843;Name=V$EGR1_01NANANArs617516190.04732430.1352NA0.06480.0030.05320.1010.140D1.0D0.95D0.023N0.001P2.47M1.13T-0.433T0.280T3.99420.55.152.6773.89414.0123.9942323.99423200.1419770.03064NA0.116NA15.9551564
51373744413737444GAexonicDNAH5NAnonsynonymous SNVexonicENSG00000039139NAnonsynonymous SNVScore=462;Name=lod=101NA5p15.2NANANANArs172634960.06569490.15210.04760.0850.02040.04290.10120.140D0.994D0.987D0.000D0.000P3.02M0.56T-0.928T0.006T4.77926.95.442.5737.95119.2674.778544.7785400.1269770.03064NA0.058NA15.9530564
203166054331660543CTexonicBPIFB3NAnonsynonymous SNVexonicENSG00000186190NAnonsynonymous SNVScore=423;Name=lod=70NA20q11.21NANANANArs3780980.1339860.13220.04760.09510.27840.05730.12090.250.01D1.0D0.999D0.000D0.003P2.71M2.97T-1.091T0.000T2.71115.034.642.3893.27212.8492.7114122.71141200.1466280.242851NA0.152NA15.9336054
145707592057075920GTexonicTMEM260NAnonsynonymous SNVexonicENSG00000070269NAnonsynonymous SNVScore=389;Name=lod=51NA14q22.3NAName=KAP1NANArs177762560.1088260.15210.0040.0980.13240.14830.11810.150.22T1.0D0.999D0.000D0.000P2.215M1.47T-1.210T0.002T4.6925.96.062.8809.73020.6404.6900974.6900970.060.1303490.124603NA0.152NA15.9327844
18580623580623TCexonicCETN1NAnonsynonymous SNVexonicENSG00000177143NAnonsynonymous SNVScore=535;Name=lod=199NA18p11.32NANANANArs617343440.1797120.12920.2440.12390.23220.13390.14160.260D0.97D0.997D0.000D0.000P2.52M1.1T-1.116T0.000T2.72115.065.22.3247.84613.3622.7208172.720817NA0.1458140.206537NA0.123NA15.9167194
122102820821028208GCexonicSLCO1B3NAnonsynonymous SNVexonicENSG00000111700,ENSG00000257046NAnonsynonymous SNVScore=492;Name=lod=133NA12p12.2NANANANArs601409500.06569490.1690.0030.10810.00760.07260.11320.170D0.998D0.99D0.000D0.000P3.4M-1.43T-0.893T0.008T2.78115.263.922.0347.37013.8542.7813092.78130900.1562790.032456NA0.123NA15.8948544
53400470734004707CTexonicAMACRNAnonsynonymous SNVexonicENSG00000242110NAnonsynonymous SNVScore=574;Name=lod=286NA5p13.2Score=778;Name=V$HTF_01NANANArs109411120.2525960.5040.34720.40060.02420.10020.41080.520.05D0.931P0.798P0.000D0.000P4.33H-0.66T-1.012T0.000T5.478355.922.8094.41420.3215.4778655.4778650.080.5248840.109623NA0.362CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116321.2;CLNDSDB=.;CLNDSDBID=.15.8936494
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
3122354792122354792GAexonicPARP15NAnonsynonymous SNVexonicENSG00000173200NAnonsynonymous SNVScore=284;Name=lod=19NA3q21.1NANAName=49NArs124891700.2216450.13220.48810.24780.09830.18710.18050.490.03D1.0D1.0D..0.000P3.435M2.34T-0.903T0.000T4.03120.73.992.0589.64714.8004.0305084.03050800.1323260.115978NA0.123NA15.8883074
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
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
53596597035965970ACexonicUGT3A1NAnonsynonymous SNVexonicENSG00000145626NAnonsynonymous SNVScore=251;Name=lod=14NA5p13.2NANANANArs37566690.2128590.13920.38490.22330.01660.36910.19410.350D1.0D1.0D0.000D0.009P3.465M-1.23T-1.230T0.000T3.30417.13.01.3181.89910.7943.303973.3039700.1397810.035649NA0.159NA15.8602524
63895199838951998CTexonicDNAH8NAnonsynonymous SNVexonicENSG00000124721NAnonsynonymous SNVScore=383;Name=lod=48NA6p21.2NANANANArs15372320.1715260.1670.34620.11820.04770.20140.15960.340.01D1.0D0.996D0.000D0.000P3.405M2.96T-0.850T0.116T3.9620.36.022.8655.88420.5413.9596373.95963700.1470930.066954NA0.196NA15.8596404
3183861243183861243AGexonicEIF2B5NAnonsynonymous SNVexonicENSG00000145191NAnonsynonymous SNVScore=627;Name=lod=471NA3q27.1NAName=USF2,USF-1,NFKBName=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
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
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
6146351069146351069GAexonicGRM1NAnonsynonymous SNVexonicENSG00000152822NAnonsynonymous SNVScore=383;Name=lod=48NA6q24.3NAName=GATA-2NANArs140910734NANANANANANA0.000032950.00010.29T0.91P0.221B0.000D1.000D0.79N-1.63D-0.560T0.260T3.96720.35.692.6797.69019.8013.9671473.9671470.10.0001160NANANA15.8331844
9112687354112687354CTexonicPALM2,PALM2-AKAP2NAnonsynonymous SNVexonicENSG00000157654,ENSG00000241978,ENSG00000243444NAnonsynonymous SNVScore=440;Name=lod=82NA9q31.3Score=705;Name=V$HOX13_01NAName=2NArs1506744450.000599042NANANANA0.00310.00030.0110D0.979D0.498P0.580N1.000N0.46N2.26T-1.071T0.060T3.19716.714.462.6951.15911.2003.1973533.1973530.050.0004650ID=COSM283686,COSM283685;OCCURENCE=1(large_intestine)0.007NA15.8325684
187687334676873346GAexonicATP9BNAnonsynonymous SNVexonicENSG00000166377NAnonsynonymous SNVScore=704;Name=lod=968NA18q23Score=961;Name=V$HOXA3_01NANANArs1451619580.000199681NANA0.0014NANA0.00070.00280.01D0.696P0.373B0.000N1.000D1.965M0.09T-0.140T0.422T4.30122.54.991.4897.16814.7294.3007424.3007420.010.0005820.000908NANANA15.8320514
93567579935675799CAexonicCA9NAnonsynonymous SNVexonicENSG00000107159NAnonsynonymous SNVScore=371;Name=lod=43NA9p13.3NAName=CTCF,YY1_(C-20)Name=35NArs184826298NANANANANANA0.0010.00120.23T0.964D0.766P0.106N1.000D0.4N-0.2T-0.738T0.191T1.95112.484.051.3061.6359.1961.951151.951150.230.0012240.000256NANANA15.8311094
177291636572916365CTexonicUSH1GNAnonsynonymous SNVexonicENSG00000182040NAnonsynonymous SNVScore=805;Name=lod=2484NA17q25.1Score=855;Name=V$ZID_01NANANArs2016446740.0005990420.001NANA0.00080.0010.00230.00190.59T0.897P0.162B0.000D0.571D1.59L-0.51T-0.768T0.164T0.2095.1252.820.9501.8215.7250.208728NA0.40.0018760.000228NANACLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041422.1;CLNDSDB=.;CLNDSDBID=.15.8281574
157421958274219582GAexonicLOXL1NAnonsynonymous SNVexonicENSG00000129038NAnonsynonymous SNVScore=614;Name=lod=419Name=Glaucoma (exfoliation)15q24.1Score=929;Name=V$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
X1937964019379640GCexonicMAP3K15NAnonsynonymous SNVexonicENSG00000180815NAnonsynonymous SNVScore=329;Name=lod=29NAXp22.12NANANANArs15943NANANANANANA0.00360.010.38T0.928P0.433B0.000U1.000D2.34M-2.29D-0.029T0.520D2.59514.645.041.2355.56913.9582.5951732.5951730.270.0077290.001304NANANA15.8220044
222004350420043504GAexonicTANGO2NAnonsynonymous SNVexonicENSG00000183597NAnonsynonymous SNVScore=444;Name=lod=85NA22q11.21Score=831;Name=V$RFX1_02NANANArs1424422930.001996810.007NA0.0043NANA0.00690.010.2T0.86P0.243B0.000D1.000D2.795M1.93T-1.001T0.057T3.37717.394.522.4992.51112.9433.3772513.37725100.0076740.001816NANANA15.8117594
114764042947640429GCexonicMTCH2NAnonsynonymous SNVexonicENSG00000109919NAnonsynonymous SNVScore=687;Name=lod=823NA11p11.2Score=901;Name=V$HSF1_01NANANArs10646080.2573880.35390.27680.40350.04540.32110.31870.360.02D0.98D0.881P0.000D0.000P1.98M-0.55T-1.259T0.000T4.11921.25.132.3876.70815.5264.1194134.1194130.050.3516750.097001ID=COSM147185;OCCURENCE=1(stomach)0.319NA15.8090584
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
117844958378449583GAexonicTENM4NAnonsynonymous SNVexonicENSG00000149256NAnonsynonymous SNVScore=554;Name=lod=238NA11q14.1Score=922;Name=V$CREBP1CJUN_01NANANArs762833140.003594250.0119NA0.0072NA0.0010.00760.011..0.651P0.198B0.000D1.000D2.81M2.53T-1.063T0.044T4.11921.25.082.7939.60119.0334.1190924.11909200.0111890.002025NANANA15.8026444
203387221533872215CAexonicEIF6NAnonsynonymous SNVexonicENSG00000242372NAnonsynonymous SNVScore=616;Name=lod=427NA20q11.22NAName=AP-2gammaNANArs18022410.003594250.0149NA0.00290.0008NA0.0070.0150.08T0.497P0.134B0.000D1.000D2.32M..-0.815T0.106T5.3343.951.4275.21612.4505.2997785.29977800.0151440.003653NA0.007NA15.7962894
53395169333951693CGexonicSLC45A2NAnonsynonymous SNVexonicENSG00000164175NAnonsynonymous SNVScore=467;Name=lod=105Name=Hair color,Skin pigmentation,Eye color5p13.2Score=863;Name=V$MRF2_01NANANArs168919820.274960.93840.0060.4640.03560.05930.64030.970.09T0.995D0.97D0.000D0.000P2.885M-1.61D-0.961T0.000T4.14321.44.320.9171.48613.0014.1428074.1428070.010.9591860.184748NA0.449CLINSIG=pathogenic|other;CLNDBN=Skin/hair/eye_pigmentationx2c_variation_inx2c_5|Malignant_melanoma_of_skin;CLNREVSTAT=single|single;CLNACC=RCV000004763.2|RCV000022392.1;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C2673584:227240|C0151779:155600:9365500415.7954474
114746428447464284CTexonicRAPSNNAnonsynonymous SNVexonicENSG00000165917NAnonsynonymous SNVScore=630;Name=lod=484NA11p11.2Score=868;Name=V$NF1_Q6NANANArs346251050.01078270.0119NA0.05040.00080.00610.01520.030.38T0.74P0.238B0.000D1.000D1.845L1.19T0.105D0.484T4.7526.65.092.5387.13318.8524.75034.75030.040.0154720.004089NANANA15.7907614
114433150944331509CGexonicALX4NAnonsynonymous SNVexonicENSG00000052850NAnonsynonymous SNVScore=699;Name=lod=924NA11p11.2Score=960;Name=V$NFKAPPAB_01Name=Nrf1,ZNF263,SUZ12Name=60NArs38249150.4726440.46820.50790.38330.24430.81290.59140.490.01D0.437B0.115B0.000D0.000P1.04L-4.01D-1.149T0.000T4.90128.24.612.1085.26917.4764.9013774.90137700.487320.300909NA0.391NA15.7864134
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
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$AP1_Q2NANANArs23060290.3676120.54170.25690.48410.11420.56240.49420.540.04D0.233B0.3B0.000D0.000P2.015M-3.81D-1.117T0.000T3.63418.485.812.2107.43712.3913.6337393.6337390.160.5432660.194911NA0.478NA15.7541674
9124088908124088908CGexonicGSNNAnonsynonymous SNVexonicENSG00000148180NAnonsynonymous SNVScore=572;Name=lod=282NA9q33.2NANAName=103NArs776813110.0237620.0308NA0.02020.02650.03990.03420.0320.16T0.471P0.227B0.000D1.000D2.85M1.89T-1.095T0.034T3.03316.124.221.1192.9879.5323.0329173.0329170.010.0314320.032031NA0.014NA15.7369014
193805561238055612ATexonicZNF571NAnonsynonymous SNVexonicENSG00000180479NAnonsynonymous SNVNANA19q13.12NAName=ZNF274,SETDB1,KAP1Name=4NArs48020290.3682110.1680.65280.26370.35550.37220.26130.650.01D1.0D1.0D..0.000P4.02H0.59T-0.888T0.000T3.36417.343.781.5564.73211.5963.3637953.3637950.020.1855810.315252NA0.297NA15.7184524
9107361129107361129CTexonicOR13C5NAnonsynonymous SNVexonicENSG00000255800NAnonsynonymous SNVScore=265;Name=lod=16NA9q31.1Score=885;Name=V$CP2_01NANANArs41179660.3634190.17890.56450.21330.39940.40390.26520.560D1.0D1.0D0.001U0.073P3.935H7.26T-1.052T0.000T3.76719.124.172.1692.70614.0523.7665813.76658100.1930230.355651NA0.406NA15.6962104
187217608372176083TCexonicCNDP2NAnonsynonymous SNVexonicENSG00000133313NAnonsynonymous SNVScore=437;Name=lod=80NA18q22.3NAName=GATA2_(CG2-96),TAL1_(SC-12984)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
14783420947834209GTexonicCMPK1NAnonsynonymous SNVexonicENSG00000162368NAnonsynonymous SNVScore=685;Name=lod=813NA1p33Score=847;Name=V$HAND1E47_01NANANArs356874160.05071880.04870.1270.09510.00080.01020.04450.110D0.866P0.279B0.000D0.000P2.15M-1.08T-0.750T0.013T3.03716.134.351.2092.25110.1873.0371393.03713900.0482560.009759ID=COSM146504;OCCURENCE=1(stomach)0.007NA15.6918774
142203856222038562TCexonicOR10G3NAnonsynonymous SNVexonicENSG00000169208NAnonsynonymous SNVScore=420;Name=lod=68NA14q11.2NANANANArs456123320.01617410.05170.0010.01870.00380.01020.03730.0570.05D0.996D0.827P0.000D0.586D1.2L4.95T-0.908T0.001T3.00416.024.571.8162.28710.6163.004233.0042300.0570930.01271NA0.007NA15.6872404
223088852730888527CTexonicSEC14L4NAnonsynonymous SNVexonicENSG00000133488NAnonsynonymous SNVScore=569;Name=lod=275NA22q12.2Score=831;Name=V$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
8117783914117783914ACexonicUTP23NAnonsynonymous SNVexonicENSG00000147679NAnonsynonymous SNVScore=415;Name=lod=65NA8q24.11NANANANArs11339500.07428120.0606NA0.05190.13920.0930.05740.150.01D0.979D0.655P0.000D0.000P2.64M1.6T-1.088T0.001T3.9820.45.572.1348.56115.7343.9795943.9795940.030.0404650.106673NA0.116NA15.6748684
125228466852284668CAexonicANKRD33NAnonsynonymous SNVexonicENSG00000167612NAnonsynonymous SNVScore=510;Name=lod=158NA12q13.13NANANANArs123680480.1651360.23260.16770.11960.08850.2290.20120.250.01D0.998D0.952D0.000D0.000P2.345M1.7T-1.147T0.000T4.42923.54.72.6015.04215.024.4293574.42935700.2280230.096686NA0.196NA15.6715104
173069239630692396GTexonicZNF207NAnonsynonymous SNVexonicENSG00000010244NAnonsynonymous SNVScore=588;Name=lod=328NA17q11.2Score=885;Name=V$AP1_01NAName=4NArs37952440.04672520.06860.04660.03170.01130.08280.05620.0870.41T0.748P0.303B0.000D1.000D1.59L0.85T-1.133T0.014T3.76419.115.872.7844.76720.2123.7638333.7638330.090.0613950.015207NA0.109NA15.6471384
157601745276017452CTexonicODF3L1NAnonsynonymous SNVexonicENSG00000182950NAnonsynonymous SNVScore=329;Name=lod=29NA15q24.2NANANANArs559055640.1383790.23860.10320.16280.11040.0920.19840.250D1.0D1.0D0.000D0.000P3.15M0.03T-1.135T0.000T3.26516.955.282.4794.73514.3963.2645213.26452100.2503490.127447NA0.058NA15.6459844
186165446361654463AGexonicSERPINB8NAnonsynonymous SNVexonicENSG00000166401NAnonsynonymous SNVScore=295;Name=lod=21NA18q22.1Score=862;Name=V$MRF2_01NANANArs38266160.5485220.54270.54460.67440.37820.69940.58340.640D0.998D0.98D0.000D0.000P2.97M2.72T-0.890T0.000T3.23716.855.652.3719.04415.2103.2369283.23692800.5801160.425329NA0.551NA15.6271174
7100371479100371479GCexonicZANNAunknownexonicENSG00000146839NAnonsynonymous SNVScore=259;Name=lod=15NA7q22.1NANANANArs715553020.009384980.0288NA0.0086NA0.01230.02610.0110.03D0.998D0.939D0.034N0.996N1.795L2.47T0.076D0.759D2.82815.423.41.1041.0558.5202.8283832.828383NANANANA0.007NA15.6117667
125298144252981442CAexonicKRT72NAnonsynonymous SNVexonicENSG00000170486NAnonsynonymous SNVScore=586;Name=lod=320NA12q13.13NAName=CTCF,CTCF_(SC-5916)NANArs111701830.1781150.24160.06550.15270.09680.35690.23450.260D0.029B0.076B0.000D0.088P4.76H-3.51D-0.903T0.001T3.53918.064.031.3834.63014.1103.53923.53920.010.255930.138221NA0.138NA15.6013034
158026321780263217CTexonicBCL2A1NAnonsynonymous SNVexonicENSG00000140379NAnonsynonymous SNVScore=391;Name=lod=52NA15q25.1NAName=Pol2-4H8NANArs38260070.2034740.25450.20630.15990.07030.35890.23440.250.01D1.0D1.0D0.212N0.000P2.875M0.58T-0.962T0.000T3.06316.225.632.6524.11517.8903.0625463.0625460.040.2541860.092147NA0.203NA15.5902474
1220331205220331205CGexonicRAB3GAP2NAnonsynonymous SNVexonicENSG00000118873NAnonsynonymous SNVScore=480;Name=lod=119NA1q41NANAName=18NArs22891890.06030350.08850.04860.05190.00760.12070.08950.0940.17T0.989D0.856P0.000D0.000P1.75L1.13T-1.156T0.012T5.01829.65.592.6427.43019.5895.0181575.0181570.490.0936050.021562NA0.058CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000118106.2|RCV000127677.1;CLNDSDB=.|.;CLNDSDBID=.|.15.5617284
5178409927178409927GAexonicGRM6NAnonsynonymous SNVexonicENSG00000113262NAnonsynonymous SNVScore=462;Name=lod=101NA5q35.3Score=803;Name=V$CEBP_CNANANArs170788740.03973640.1054NA0.06050.01440.03270.07160.10.19T0.566P0.292B..0.000P2.51M-2.38D-0.461T0.065T4.71926.24.792.3879.66115.7154.7189444.71894400.096860.024966NA0.036CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086049.2;CLNDSDB=.;CLNDSDBID=.15.5594734
57173960271739602GCexonicZNF366NAnonsynonymous SNVexonicENSG00000178175NAnonsynonymous SNVScore=616;Name=lod=426NA5q13.2Score=822;Name=V$OCT1_04NANANArs131885190.0724840.09640.07140.03890.06050.0890.09320.110.04D0.546P0.141B0.001D0.539D0.895L2.89T-1.089T0.001T3.21616.775.872.9414.66016.1123.2156883.2156880.020.1078410.059186NA0.087NA15.5358924
177961263379612633TCexonicTSPAN10NAunknownexonicENSG00000182612NAnonsynonymous SNVScore=445;Name=lod=86NA17q25.3NANANANArs343799100.08486420.04370.21630.03310.05370.07060.05370.210.03D1.0D1.0D0.000D0.000P2.915M-1.44T-1.120T0.002T3.93420.14.151.7476.99813.3043.9337723.9337720.050.0376580.038091NA0.072NA15.5316087
8124658214124658214CTexonicKLHL38NAnonsynonymous SNVexonicENSG00000175946NAnonsynonymous SNVScore=539;Name=lod=207NA8q24.13NANANANArs117798660.03853830.1153NA0.07060.00530.02150.07860.110.01D0.99D0.825P0.000D0.000P1.95M-1.14T-0.751T0.028T3.61818.415.182.4265.92018.6933.6176843.61768400.1142760.019895NA0.029NA15.5251574
205613862156138621AGexonicPCK1NAnonsynonymous SNVexonicENSG00000124253NAnonsynonymous SNVScore=444;Name=lod=85NA20q13.31NANANANArs81927080.05770770.12030.0010.09220.04080.05010.09260.130.02D0.992D0.882P0.000D0.000P3.215M3.29T-1.131T0.001T2.92915.765.432.0728.83215.4962.9292622.9292620.020.1266280.044258NA0.08NA15.4938054
1153446815344681GAexonicOR51B2NAnonsynonymous SNVexonicENSG00000184881NAnonsynonymous SNVScore=321;Name=lod=27NA11p15.4Score=741;Name=V$HOX13_01NANANArs110368150.2647760.28530.21730.29540.28970.23720.27210.320.01D1.0D1.0D0.002U0.000P3.015M8.08T-0.721T0.000T4.16221.54.382.3062.46015.8604.1621034.1621030.010.2872930.300545NA0.304NA15.4886404
1247614896247614896ACexonicOR2B11NAnonsynonymous SNVexonicENSG00000177535NAnonsynonymous SNVScore=510;Name=lod=158NA1q44Score=911;Name=V$TAL1ALPHAE47_01NANANArs115834100.3696090.47420.44740.34010.11650.5450.43210.490D0.998D0.905P0.000D0.010P4.52H0.26T-0.959T0.000T3.78319.214.962.2196.29212.9243.7832493.78324900.4620930.165456NA0.442NA15.4649404
1777615127761512CAexonicCYB5D1NAnonsynonymous SNVexonicENSG00000182224NAnonsynonymous SNVScore=412;Name=lod=63NA17p13.1NAName=GATA-1Name=95NArs124532500.256390.09340.27280.28670.34720.26280.17410.30.03D0.964D0.665P0.000D0.000P1.205L-1.57D-1.111T0.000T3.64118.521.280.1391.5829.3843.6407533.6407530.020.1113950.302315NA0.181NA15.4544384
1743526364352636GAexonicSPNS3NAnonsynonymous SNVexonicENSG00000182557NAnonsynonymous SNVScore=272;Name=lod=17NA17p13.2Score=799;Name=V$MYCMAX_03NANANArs344579310.09604630.13720.06940.11380.01590.17690.12260.140.23T0.987D0.629P0.000D0.188P2.155M-0.58T-0.966T0.004T2.57314.562.941.2533.8215.8942.5725992.5725990.050.1226740.033818NA0.116NA15.4508594
4187004074187004074CTexonicTLR3NAnonsynonymous SNVexonicENSG00000164342NAnonsynonymous SNVScore=426;Name=lod=72NA4q35.1NANANANArs37752910.2318290.32410.32840.30550.02650.26280.27120.320.02D1.0D1.0D0.000N0.000P4.52H0.95T-1.355T0.000T2.88815.624.951.4584.03114.7982.8881562.88815600.2902330.071039ID=COSM149771;OCCURENCE=1(stomach)0.21CLINSIG=pathogenic;CLNDBN=Congenital_human_immunodeficiency_virus;CLNREVSTAT=single;CLNACC=RCV000034357.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1836230:60942315.4478004
201851337218513372CTexonicSEC23BNAnonsynonymous SNVexonicENSG00000101310NAnonsynonymous SNVScore=478;Name=lod=117NA20p11.23NANANANArs178076730.06130190.13020.0030.10950.00610.0910.11220.140.01D0.5P0.382B0.000D0.000P3.13M-0.91T-0.774T0.009T3.86119.624.752.6317.10917.2703.8608723.8608720.010.1436050.030186NA0.022CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081399.1;CLNDSDB=.;CLNDSDBID=.15.4473284
175627109456271094GCexonicEPXNAnonsynonymous SNVexonicENSG00000121053NAnonsynonymous SNVScore=410;Name=lod=62NA17q22Score=920;Name=V$LMO2COM_01NANANArs116527090.2136580.30910.09230.18730.20730.26790.28760.320.53T1.0D0.999D0.000D0.321P2.56M-0.55T-0.963T0.000T1.62911.43.621.0582.5247.6581.6285031.6285030.050.3175580.242851NA0.116NA15.4190754
59612433096124330TCexonicERAP1NAnonsynonymous SNVexonicENSG00000164307NAnonsynonymous SNVScore=497;Name=lod=139Name=Ankylosing spondylitis5q15NANAName=62NArs301870.5962460.65010.54660.59510.59760.5910.62110.660.39T0.998D0.967D0.000D0.001P2.8M3.58T-1.002T0.000T4.01220.66.172.3717.36216.4844.0122714.0122710.10.6433720.596686NA0.522NA15.4187614
22726046927260469GAexonicTMEM214NAnonsynonymous SNVexonicENSG00000119777NAnonsynonymous SNVScore=586;Name=lod=320NA2p23.3Score=737;Name=V$MYOGNF1_01NANANArs11246490.3031150.30910.06550.40060.44780.27710.31610.420.07T1.0D0.995D0.000D0.000P2.255M0.51T-1.026T0.000T3.91619.925.692.7009.22217.5913.9155823.9155820.010.306490.41519NA0.268NA15.4016434
56869594068695940TGexonicRAD17NAnonsynonymous SNVexonicENSG00000152942NAnonsynonymous SNVScore=603;Name=lod=375NA5q13.2NANANANArs10450510.2547920.32310.31550.30120.04460.37320.29920.340D1.0D1.0D0.000D0.000P2.05M1.79T-1.039T0.000T4.29122.45.732.2037.24815.0604.291214.2912100.3217440.083976NA0.225NA15.3892894
8110413762110413762TCexonicPKHD1L1NAnonsynonymous SNVexonicENSG00000205038NAnonsynonymous SNVScore=576;Name=lod=291NA8q23.1Score=768;Name=V$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
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
15427212154272121TCexonicTMEM48NAnonsynonymous SNVexonicENSG00000058804NAnonsynonymous SNVScore=455;Name=lod=94NA1p32.3NANANANANANANANANANANANANA0.18T0.923P0.519P0.000D1.000D1.795L0.85T-0.743T0.144T2.97715.933.892.1242.71210.7422.9771912.9771910.05NANANANANA15.3333334
1144930940144930940TCexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=265;Name=lod=16NA1q21.1Score=844;Name=V$FAC1_01Name=KAP1Name=134NArs2147326NANANANANANA0.50.51T0.763P0.311B..1.000D1.7L2.72T-1.113T0.015T0.8928.6255.532.1003.06113.6040.89225NA1NANANA0.5NA15.3333334
171981327719813277GTexonicAKAP10NAnonsynonymous SNVexonicENSG00000108599NAnonsynonymous SNVScore=567;Name=lod=270NA17p11.2NANANANANANANANANANANANANA0.89T0.924P0.9P0.000D0.918D1.05L1.63T-1.078T0.105T0.8268.3295.482.5847.50116.5150.826017NA0.55NANANANANA15.3333334
63174988431749884GAexonicVARSNAnonsynonymous SNVexonicENSG00000204394NAnonsynonymous SNVScore=336;Name=lod=31NA6p21.33Score=875;Name=V$NFE2_01NANANANANANANANANANA0.000008315NA0.03D0.001B0.005B0.000N1.000D0.665N1.39T-1.092T0.032T0.3365.824.371.2184.75211.4100.335583NA0.18NANANANANA15.3333251
14056289440562894CAexonicPPT1NAnonsynonymous SNVexonicENSG00000131238NAnonsynonymous SNVNANA1p34.2NAName=Max,E2F1,FOSL1_(SC-183),POU2F2,USF2,Pol2,YY1,HA-E2F1,Nrf1,USF-1,Pol2-4H8,Ini1,PAX5-C20,NFKB,Pol2(b),STAT3,Sin3Ak-20,c-Myc,TBP,ZBTB33,CHD2_(N-1250),Pol2(phosphoS2),USF1_(SC-8983),Oct-2,E2F6_(H-50),TCF4,HMGN3,E2F4,YY1_(C-20),E2F6,BCLAF1_(M33-P5B11),HEY1,Mxi1_(bHLH),BRCA1_(C-1863),IRF1,KAP1,SETDB1,ATF3,TAF1Name=134NANANANANANANANA0.000008381NA0.6T0.0B0.0B0.132N1.000N0.895L-3.22D-0.040T0.711D0.647.44-8.87-3.145-2.44610.3150.640489NA0NANANANANA15.333325
159145469191454691CAexonicMAN2A2NAnonsynonymous SNVexonicENSG00000196547NAnonsynonymous SNVScore=321;Name=lod=27NA15q26.1NANANANANANANANANANANA0.00001649NA0.5T0.12B0.111B0.000D1.000D2.175M-1.16T-0.616T0.357T2.39913.984.561.3451.7908.1212.3990942.3990940.05NANANANANA15.3333169
152286436922864369GAexonicTUBGCP5NAnonsynonymous SNVexonicENSG00000153575NAnonsynonymous SNVScore=336;Name=lod=31NA15q11.2Score=787;Name=V$CMYB_01NANANArs138440581NANANANANANA0.00020.00020.06T1.0D0.994D0.000D1.000D1.5L3.1T-1.178T0.046T3.8919.773.110.8095.2819.9993.889773.889770.020.0002330.000227NANANA15.3329004
201829733618297336GAexonicZNF133NAnonsynonymous SNVexonicENSG00000125846NAnonsynonymous SNVScore=321;Name=lod=27NA20p11.23NANANANArs374733106NANANANANANA0.00020.00030.05D0.997D0.969D0.014N0.991D1.005L2.24T-1.126T0.075T2.41414.034.352.7222.43915.1762.4143412.4143410.010.0003490NANANA15.3327844
11626060616260606GAexonicSPENNAnonsynonymous SNVexonicENSG00000065526NAnonsynonymous SNVScore=550;Name=lod=229NA1p36.13Score=966;Name=V$CETS1P54_01NANANArs200512596NANANANANANA0.00030.00030.31T1.0D0.994D..1.000D1.895L2.35T-1.094T0.110T3.51617.965.242.4497.26618.8183.51613.51610.030.0003490NANANA15.3326844
11729725217297252ACexonicCROCCNAnonsynonymous SNVexonicENSG00000058453NAnonsynonymous SNVScore=549;Name=lod=227NA1p36.13NANANANArs140590876NANANANANANA0.00020.00060.13T0.999D0.99D..0.947D2.25M2.72T-1.024T0.092T3.47617.794.61.8472.25312.2823.4758473.47584700.0005820NANANA15.3325514
142185968721859687GAexonicCHD8NAnonsynonymous SNVexonicENSG00000100888NAnonsynonymous SNVScore=731;Name=lod=1248NA14q11.2NANANANArs750840780.0001996810.001NANANANA0.000016770.00130D1.0D0.965D0.001N1.000D1.385L0.8T-0.668T0.241T4.04620.85.422.8193.07718.1534.0460784.0460780NANANANANA15.3323166
1144931087144931087TCexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=612;Name=lod=408NA1q21.1NAName=YY1_(C-20),KAP1Name=134NArs41315684NANANANANANA0.24560.260.54T0.958D0.827P..1.000D1.5L2.73T-1.059T0.030T1.55711.164.951.8562.88412.5591.5574141.5574140.190.2573260.08443NA0.159NA15.3304074
12110034320110034320GAexonicMVKNAnonsynonymous SNVexonicENSG00000110921NAnonsynonymous SNVScore=284;Name=lod=19NA12q24.11NANANANArs28934897NANANANANANA0.00140.00220.13T0.45B0.15B0.000N1.000A0.205N-3.42D0.071D0.580D2.15413.163.170.4894.7237.5392.153972.153970.070.0022090.000681ID=COSM1239505;OCCURENCE=1(oesophagus)NACLINSIG=pathogenic;CLNDBN=Hyperimmunoglobulin_D_with_periodic_fever;CLNREVSTAT=single;CLNACC=RCV000012705.14;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0398691:260920:ORPHA343:23453800215.3297244
204372357343723573CTexonicKCNS1NAnonsynonymous SNVexonicENSG00000124134NAnonsynonymous SNVScore=349;Name=lod=35NA20q13.12NANANANArs1421805420.0003993610.002NANANANA0.00050.00120.44T0.242B0.144B0.197N0.999D0.55N-4.02D0.378D0.762D3.1816.645.672.6771.60116.9383.1804313.1804310.140.0011630NANANA15.3296704
1229680902968090GCexonicFOXM1NAnonsynonymous SNVexonicENSG00000111206NAnonsynonymous SNVScore=468;Name=lod=106NA12p13.33NAName=Pol2,ZNF263NANArs289198690.0171725NANA0.00580.0590.00410.00490.060.01D0.828P0.555P0.001D1.000N0.69N-3.01D-0.493T0.178T1.5911.273.580.8494.7578.8951.590311.590310.010.0002330.047662NA0.036NA15.3282004
182941210529412105ACexonicTRAPPC8NAnonsynonymous SNVexonicENSG00000153339NAnonsynonymous SNVScore=621;Name=lod=445NA18q12.1NANANANArs1509966490.0009984030.003NA0.0014NA0.0010.00120.00280.53T0.917P0.656P0.000D1.000D2.075M2.29T-1.093T0.073T2.31313.695.612.1405.97015.8022.3127282.3127280.230.0020940.000227NANANA15.3270394
2242157241242157241GAexonicANO7NAnonsynonymous SNVexonicENSG00000146205NAnonsynonymous SNVScore=598;Name=lod=360NA2q37.3Score=862;Name=V$E2F_03Name=TCF12,ZEB1_(SC-25388),Sin3Ak-20,PAX5-C20,Pol2-4H8,Pol2,TAF1,HEY1,E2F6,E2F6_(H-50)Name=130NArs768325270.1108230.1720.11310.17580.01740.12580.16250.190.05D0.759P0.272B0.001N0.000P1.625L-0.25T-1.011T0.001T4.33422.82.841.3058.27613.5644.3335624.3335620.060.1728440.049222NA0.058NA15.3259894
10127737958127737958TCexonicADAM12NAnonsynonymous SNVexonicENSG00000148848NAnonsynonymous SNVScore=474;Name=lod=113NA10q26.2NANANANArs772971170.002396170.003NANANA0.00920.00210.010.14T1.0D0.999D0.000D1.000D1.67L2.01T-1.081T0.086T4.76826.85.22.1807.86815.2334.7684044.7684040.080.0026740.000227NANANA15.3255594
162481553424815534AGexonicTNRC6ANAnonsynonymous SNVexonicENSG00000090905NAnonsynonymous SNVScore=686;Name=lod=819NA16p12.1Score=884;Name=V$CDP_02NANANArs1464270350.0003993610.001NANA0.0008NA0.0030.00661T0.915P0.477P0.000D1.000D-0.695N3.56T-0.867T0.006T0.526.8176.082.3332.92612.4910.519862NA10.0066280.001593NANANA15.3227054
48962538889625388ATexonicHERC3NAnonsynonymous SNVexonicENSG00000138641NAnonsynonymous SNVScore=637;Name=lod=516NA4q22.1NANANANArs617508200.001198080.005NANA0.0008NA0.0020.011T0.997D0.99D0.000D1.000D-0.11N0.98T-1.037T0.075T3.68518.725.262.2079.13915.3533.6846153.6846150.020.0046510.000681NANANA15.3216824
83331889133318891TCexonicFUT10NAnonsynonymous SNVexonicENSG00000172728NAnonsynonymous SNVScore=389;Name=lod=51NA8p12Score=845;Name=V$PAX3_01NANANArs1443276420.0009984030.004NANANA0.0010.00350.00470.34T0.782P0.475P0.002N1.000D2.075M1.9T-1.047T0.114T4.0921.15.792.2364.62712.5754.0901694.09016900.0046510.000908NANANA15.3211824
88604970886049708TCexonicLRRCC1NAnonsynonymous SNVexonicENSG00000133739NAnonsynonymous SNVNANA8q21.2NANAName=5NArs1472741480.0009984030.005NANANANA0.00380.0110.01D0.999D0.958D0.138N1.000D1.67L0.75T-0.738T0.184T2.0612.844.721.0227.03612.3452.0600172.06001700.0055310.000551NA0.007NA15.3190024
1155206037155206037GAexonicGBANAnonsynonymous SNVexonicENSG00000177628NAnonsynonymous SNVScore=608;Name=lod=396NA1q22NANANANArs755484010.001797120.006NA0.0029NA0.0010.00660.010.12T0.275B0.113B0.006N0.596N1.5L-5.71D0.902D0.879D1.62811.43.571.9731.87810.7861.6282071.6282070.080.0072090.001135NANACLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000079335.1;CLNDSDB=.;CLNDSDBID=.15.3135244
2187702100187702100GTexonicZSWIM2NAnonsynonymous SNVexonicENSG00000163012NAnonsynonymous SNVNANA2q32.1NANANANArs1128522090.007587860.007NA0.0101NA0.02450.00630.0110.04D0.998D0.956D0.026N1.000N2.08M-2.35D-0.039T0.672D2.7415.122.770.2832.8208.8232.7397082.7397080.040.0074420.000908NA0.007NA15.3125914
214316125243161252GAexonicRIPK4NAnonsynonymous SNVexonicENSG00000183421NAnonsynonymous SNVScore=309;Name=lod=24NA21q22.3NANANANArs355375170.002795530.005NA0.0058NA0.00510.00570.010.7T1.0D0.998D0.000D0.890D-0.625N2.48T-0.975T0.021T0.6447.4584.612.1165.93711.7220.644084NA0.140.0101190.000908NANANA15.3125144
3131100956131100956CGexonicNUDT16NAnonsynonymous SNVexonicENSG00000198585NAnonsynonymous SNVScore=501;Name=lod=145NA3q22.1NAName=CTCF,c-Myc,E2F6_(H-50),E2F6Name=11NArs1504376740.003594250.008NA0.00860.00080.00310.00770.0110.01D1.0D0.997D0.001N0.998D1.225L3.12T-1.124T0.058T3.78119.21.80.3411.7637.3423.7811173.7811170.010.0105840.002272NA0.007NA15.3070494
2219561254219561254GAexonicSTK36NAnonsynonymous SNVexonicENSG00000163482NAnonsynonymous SNVScore=374;Name=lod=44NA2q35Score=884;Name=V$AP1_01NANANArs130235400.004992010.01290.0010.0058NA0.00720.0080.010.23T0.964D0.289B0.001D1.000D0.55N-0.46T-0.971T0.103T3.39917.474.551.5272.7209.3783.3986693.3986690.140.0098840.000454NANANA15.3025494
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$FOXO1_01NAName=9NArs18004400.09964060.19580.0050.13110.00680.20140.15470.20.04D0.596P0.306B0.000D0.000P1.725L-0.22T-1.072T0.000T3.65118.565.952.2796.03514.3763.6512563.6512560.010.1869770.033364ID=COSM1408011;OCCURENCE=2(large_intestine)0.109NA15.2958564
62962722229627222CAexonicMOGNAnonsynonymous SNVexonicENSG00000204655NAnonsynonymous SNVScore=329;Name=lod=29NA6p22.1NANANANArs1381693380.01637380.0070.0020.0418NA0.0450.0220.040.21T1.0D1.0D0.000D1.000D-0.04N1.67T-1.001T0.054T3.64418.534.841.3943.93214.4953.6441173.64411700.008490.003309ID=COSM228993;OCCURENCE=1(skin)NANA15.2958434
182978295329782953AGexonicMEP1BNAnonsynonymous SNVexonicENSG00000141434NAnonsynonymous SNVScore=515;Name=lod=165NA18q12.1NANANANArs713613720.00718850.0129NA0.00860.00150.01530.01550.0170D1.0D0.995D0.000D1.000D3.26M-0.51T-0.120T0.368T3.68518.721.220.3761.0528.2453.6848573.68485700.0171030.003421NANANA15.2878304
118666329686663296GAexonicFZD4NAnonsynonymous SNVexonicENSG00000174804NAnonsynonymous SNVScore=581;Name=lod=306NA11q14.2Score=900;Name=V$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
72076264620762646GTexonicABCB5NAnonsynonymous SNVexonicENSG00000004846NAnonsynonymous SNVScore=409;Name=lod=61NA7p21.1NANANANArs624533840.2322280.36080.18550.19450.11420.33440.30490.380D1.0D0.994D0.010N0.000P3.195M-2.75D-1.525T0.000T3.37117.373.841.3183.96112.6343.3714563.37145600.3801160.140944NA0.225NA15.2875174
15900228259002282ACexonicOMA1NAnonsynonymous SNVexonicENSG00000162600NAnonsynonymous SNVScore=503;Name=lod=148NA1p32.1NANANANArs171176990.04472840.00890.13590.01150.00830.06030.02620.140.01D0.999D0.936D0.000D0.000P1.7L2.3T-1.105T0.003T4.05520.85.492.3105.57015.7784.0553184.05531800.0120930.009759NA0.036NA15.2861404
11123810492123810492ACexonicOR4D5NAnonsynonymous SNVexonicENSG00000171014NAnonsynonymous SNVScore=471;Name=lod=109NA11q24.1NANANANArs777763180.006988820.0219NA0.0130.003NA0.01410.0210D0.997D0.964D0.000D0.948N3.25M7.73T-1.068T0.002T3.04216.154.081.9880.74310.7733.0415343.04153400.02140.003179NA0.007NA15.2759334
14104618742104618742CGexonicKIF26ANAnonsynonymous SNVexonicENSG00000066735NAnonsynonymous SNVScore=548;Name=lod=226NA14q32.33Score=792;Name=V$OLF1_01NANANArs454722970.008785940.01990.0010.00720.00080.01740.02720.020.04D0.999D0.987D..0.634D1.59L-1.66D-0.033T0.414T3.6718.65-0.024-0.0591.4079.3733.669953.669950.090.0126470.003027NANANA15.2735864
2165381542165381542CAexonicGRB14NAnonsynonymous SNVexonicENSG00000115290NAnonsynonymous SNVScore=569;Name=lod=273NA2q24.3NANANANArs345708700.006589460.0219NA0.00720.00150.00410.01580.0230.02D0.399B0.266B0.000D1.000D2.125M1.91T-1.052T0.062T3.56918.196.012.8504.61116.9383.5693193.5693190.010.0226850.003406NANANA15.2729484
16745043167450431AGexonicMIER1NAnonsynonymous SNVexonicENSG00000198160NAnonsynonymous SNVScore=498;Name=lod=141NA1p31.3NAName=BATF,NFKB,BCL11AName=12NArs171295630.006589460.0209NA0.013NA0.00310.01490.0260.2T0.156B0.016B0.000D1.000D0.55N0.53T-1.073T0.055T2.62814.755.552.2364.30214.5822.6282862.6282860.010.0260330.004355NANANA15.2715004
122531148925311489GTexonicCASC1NAnonsynonymous SNVexonicENSG00000118307NAnonsynonymous SNVScore=401;Name=lod=57NA12p12.1NANANANArs108424960.2537940.37570.19250.34870.12930.29240.33210.370.02D1.0D0.999D0.000D0.000P2.125M1.99T-1.027T0.000T3.40217.495.422.5353.83614.7263.4015563.40155600.361680.154562NA0.254NA15.2638534
2189940142189940142TGexonicCOL5A2NAnonsynonymous SNVexonicENSG00000204262NAnonsynonymous SNVScore=470;Name=lod=108NA2q32.2Score=840;Name=V$STAT5B_01NANANArs761480000.009984030.0239NA0.02310.00080.00920.01830.03..0.0B0.0B0.000D0.525D-0.825N-3.34D-0.419T0.225T1.79111.955.172.0792.26910.6211.7908891.7908890.380.0281460.005674NA0.014NA15.2629874
5127685135127685135CTexonicFBN2NAnonsynonymous SNVexonicENSG00000138829NAnonsynonymous SNVScore=621;Name=lod=445NA5q23.3Score=830;Name=V$ATF_01Name=FOXA1_(C-20),AP-2gamma,STAT3Name=50NArs1540010.731030.670.91670.75650.59910.76280.72340.920.34T0.118B0.073B0.000D0.000P0.335N-3.01D-0.947T0.000T2.18713.273.321.3653.88413.2292.1868532.1868530.30.6797670.62778NA0.746CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117020.1|RCV000125040.1;CLNDSDB=.|.;CLNDSDBID=.|.15.2601664
2241468875241468875CTexonicANKMY1NAnonsynonymous SNVexonicENSG00000144504NAnonsynonymous SNVScore=445;Name=lod=86NA2q37.3NANANANArs352787530.009384980.0268NA0.01440.00150.00820.01860.0430.15T0.999D0.909D0.000D1.000D1.345L0.31T-0.912T0.099T3.83619.484.912.4456.09715.9443.8363963.8363960.270.0282560.004085NA0.029NA15.2596774
3113115543113115543CGexonicWDR52NAnonsynonymous SNVexonicENSG00000206530NAnonsynonymous SNVScore=451;Name=lod=91NA3q13.2NANANANArs775015850.009984030.0199NA0.01870.00230.01430.02380.0310.07T1.0D0.999D..1.000D2.11M3.07T-0.268T0.286T4.61525.25.492.7466.52119.3304.6149134.61491300.0312790.009079NANANA15.2583544
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
15371272753712727CTexonicLRP8NAnonsynonymous SNVexonicENSG00000157193NAnonsynonymous SNVScore=617;Name=lod=431NA1p32.3NANANANArs51740.1443690.39560.03270.17720.01660.15030.29530.40.05D1.0D0.996D..0.000P0.55N-2.75D-1.204T0.000T5.04629.95.432.5507.10217.4325.0458925.0458920.050.3954650.082842NA0.297CLINSIG=other;CLNDBN=Myocardial_infarction_1;CLNREVSTAT=single;CLNACC=RCV000007411.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838021:60844615.2469684
2120129841120129841AGexonicDBINAnonsynonymous SNVexonicENSG00000155368NAnonsynonymous SNVScore=468;Name=lod=106NA2q14.2NANANANArs81925060.008985620.0258NA0.02020.00080.00410.0250.0360.03D0.108B0.093B0.000D1.000D4.135H1.79T-0.957T0.038T2.67814.924.391.1103.4288.1812.6781132.6781130.040.0361630.005447NA0.014NA15.2463704
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
8130789767130789767GAexonicGSDMCNAnonsynonymous SNVexonicENSG00000147697NAnonsynonymous SNVNANA8q24.21NANANANArs100908350.01357830.0398NA0.02310.00530.00510.03280.050.02D1.0D1.0D0.000D1.000N2.49M0.95T-1.008T0.058T2.92515.754.012.2512.22011.8132.9251352.92513500.0497670.008625NANANA15.2109664
3183908982183908982CTexonicABCF3NAnonsynonymous SNVexonicENSG00000161204NAnonsynonymous SNVScore=278;Name=lod=18NA3q27.1NANANANArs117062730.02555910.0497NA0.04030.0030.0470.030.050.05D0.188B0.017B0.000D1.000D1.635L-3.02D-0.191T0.282T2.51914.385.742.7033.69218.9232.5190242.5190240.030.0429070.009759NA0.029NA15.2107264
43898796538987965CTexonicTMEM156NAnonsynonymous SNVexonicENSG00000121895NAnonsynonymous SNVNANA4p14NAName=PU.1,NFKB,FOXA1_(SC-101058),p300,FOXA1_(C-20)Name=33NArs759886510.01517570.0477NA0.02160.00450.00720.03240.0520.28T0.998D0.941D0.007N0.995D1.795L1.69T-1.197T0.025T3.06616.235.082.8043.30314.1663.0656363.0656360.10.0522090.007944NA0.029NA15.2010244
165831860458318604TCexonicPRSS54NAnonsynonymous SNVexonicENSG00000103023NAnonsynonymous SNVScore=519;Name=lod=172NA16q21Score=901;Name=V$OCT1_06Name=USF-1,Egr-1Name=7NArs38158030.5369410.55370.39290.37180.7670.47440.52090.740.46T0.767P0.262B0.000D0.512P1.92M0.29T-0.948T0.000T1.1899.8323.281.0461.8937.4581.188593NA0.120.5582560.742721ID=COSM148088;OCCURENCE=1(stomach)0.58NA15.2004774
1260784246078424ATexonicVWFNAnonsynonymous SNVexonicENSG00000110799NAnonsynonymous SNVScore=399;Name=lod=56NA12p13.31NANAName=3NArs353351610.01956870.05170.0010.03460.01510.0010.03880.050.47T0.107B0.021B0.000D1.000D2.135M1.19T-1.097T0.016T1.54211.114.872.0471.9927.9171.5421551.5421550.250.045930.023377NA0.022NA15.1969034
64219612742196127CTexonicTRERF1NAnonsynonymous SNVexonicENSG00000124496NAnonsynonymous SNVScore=455;Name=lod=94NA6p21.1NANANANArs117517650.01737220.0547NA0.04030.00150.0020.03760.060.21T0.999D0.964D0.000D0.998D0.805L2.55T-1.096T0.041T4.25222.24.91.4543.79315.0284.2522814.25228100.0512790.011121NA0.007NA15.1897544
174668813546688135GAexonicHOXB7NAnonsynonymous SNVexonicENSG00000260027NAnonsynonymous SNVScore=498;Name=lod=141NA17q21.32Score=710;Name=V$P53_01Name=CCNT2,YY1_(C-20),E2F6_(H-50),Pol2,HA-E2F1,BAF170NANArs792473100.08566290.04970.23410.02160.04690.06750.06610.260.03D0.063B0.026B0.005N0.481P2.535M1.37T-1.055T0.000T3.1916.684.262.2071.15614.6283.1901873.1901870.060.0282930.040248NA0.029NA15.1892404
6158910698158910698GAexonicTULP4NAnonsynonymous SNVexonicENSG00000130338NAnonsynonymous SNVScore=628;Name=lod=477NA6q25.3Score=791;Name=V$BACH1_01NAName=3NArs122067170.03174920.05270.0010.04760.00380.06850.04660.060.44T0.007B0.009B0.000D1.000D-0.41N0.85T-1.046T0.064T2.90815.695.572.6144.95419.5422.9084822.9084820.280.0591860.016341NA0.029NA15.1748474
25831681458316814AGexonicVRK2NAnonsynonymous SNVexonicENSG00000028116NAnonsynonymous SNVScore=600;Name=lod=366NA2p16.1Score=906;Name=V$TATA_01NANANArs10510610.3019170.39660.41170.37030.06510.3630.35760.430.09T0.997D0.994D0.000D0.001P2.305M1.65T-0.936T0.000T4.02220.65.672.1503.79814.8794.0216684.0216680.060.4044960.106446NA0.225NA15.1746374
124931499449314994AGexonicCCDC65NAnonsynonymous SNVexonicENSG00000139537NAnonsynonymous SNVScore=536;Name=lod=202NA12q13.12NAName=Pol2NANArs47606000.3081070.40950.44440.49420.10140.21060.36920.460.06T1.0D0.996D0.000D0.000P2.585M4.31T-0.932T0.000T3.67918.694.471.0293.97911.2623.6786293.67862900.3822090.157739NA0.232NA15.1724244
175658420556584205ACexonicMTMR4NAnonsynonymous SNVexonicENSG00000108389NAnonsynonymous SNVScore=409;Name=lod=61Name=Dental caries17q22NANAName=11NArs23021890.3971650.36880.52980.55910.24510.38040.4180.530.28T0.891P0.628P0.000D0.000P1.745L-3.1D-1.043T0.000T3.14316.514.551.0913.78110.8543.1433993.1433990.310.3762790.278711NA0.341NA15.1702544
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
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
640879494087949ATexonicC6orf201NAnonsynonymous SNVexonicENSG00000185689NAnonsynonymous SNVScore=243;Name=lod=13NA6p25.2NANANANArs132007860.04732430.06260.0010.02160.07940.05420.05810.0770D1.0D0.998D0.000D1.000D0.895L1.32T-1.034T0.078T3.33317.223.070.7573.6157.7743.3329433.33294300.0663040.076742NA0.043NA15.1463294
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
9138377498138377498GTexonicPPP1R26NAnonsynonymous SNVexonicENSG00000196422NAnonsynonymous SNVScore=523;Name=lod=178NA9q34.3NANANANArs341517770.02276360.0746NA0.04760.0030.0020.04890.080D1.0D0.999D0.002N0.002P2.085M2.3T-1.132T0.009T3.51617.964.922.2622.33617.1143.5155993.51559900.0674420.011348NA0.094NA15.1423914
31472434514724345GAexonicC3orf20NAnonsynonymous SNVexonicENSG00000131379NAnonsynonymous SNVScore=466;Name=lod=104NA3p25.1NANANANArs170401540.05970450.06760.08230.0980.00080.08080.0660.090D1.0D0.999D0.000D0.000P1.1L1.81T-1.113T0.006T4.11721.25.282.4655.00115.8384.1166514.11665100.0586050.014753NA0.022NA15.1411284
4103188709103188709CTexonicSLC39A8NAnonsynonymous SNVexonicENSG00000138821NAnonsynonymous SNVScore=523;Name=lod=178Name=Diastolic blood pressure,Hypertension,Blood pressure,Systolic blood pressure,HDL cholesterol,Body mass index4q24NANANANArs131073250.02356230.0795NA0.05040.0023NA0.04240.080.16T0.888P0.679P0.000D1.000D1.59L0.92T-1.190T0.011T3.62418.444.432.4831.76912.3953.6244633.6244630.010.0756980.015433NA0.014NA15.1357354
X4831738648317386AGexonicSLC38A5NAnonsynonymous SNVexonicENSG00000017483NAnonsynonymous SNVScore=516;Name=lod=166NAXp11.23NANAName=7NArs17281188NANANANANANA0.12910.190.21T0.998D0.98D0.000D0.000P3.09M4.26T-1.097T0.001T2.25813.513.880.5708.3228.5502.2577942.2577940.060.0744270.032368NA0.051NA15.1298064
59651347196513471GCexonicRIOK2NAnonsynonymous SNVexonicENSG00000058729NAnonsynonymous SNVScore=662;Name=lod=651NA5q15NANANANArs25447730.3412540.40950.47820.43080.07490.42640.39720.440D1.0D0.984D0.000D0.000P3.295M3.49T-0.977T0.000T4.78626.95.72.6839.23019.4334.785844.7858400.3974420.132547NA0.348NA15.1291914
109943955699439556ACexonicAVPI1NAnonsynonymous SNVexonicENSG00000119986NAnonsynonymous SNVScore=458;Name=lod=97NA10q24.2NANANANArs115563920.04772360.06060.07140.03030.00230.08380.06780.0780.01D1.0D0.999D..1.000D1.5L1.44T-1.143T0.011T4.25622.25.092.1316.55313.9844.2562344.25623400.0777910.017022ID=COSM1162384;OCCURENCE=1(pancreas)0.014NA15.1271424
9140358581140358581CTexonicPNPLA7NAnonsynonymous SNVexonicENSG00000130653NAnonsynonymous SNVScore=363;Name=lod=40NA9q34.3NANANANArs49622370.04472840.07650.0040.02740.06730.03580.0640.0720.37T1.0D0.99D0.000D1.000D0.99L-0.84T-0.773T0.062T2.93215.773.861.8557.41915.1362.9316632.9316630.220.071860.064004NA0.007NA15.1209734
24345261843452618CTexonicZFP36L2NAnonsynonymous SNVexonicENSG00000152518NAnonsynonymous SNVScore=625;Name=lod=463NA2p21Score=825;Name=V$ATF_01Name=CCNT2,Pol2Name=138NArs116756320.07068690.06760.0030.0360.05520.18920.08450.070.71T0.047B0.013B0.001D1.000D0.585N0.89T-1.092T0.005T4.00920.53.240.527-0.9596.8614.0092244.0092240.160.0693180.048564NA0.029NA15.1119154
173722421137224211CTexonicPLXDC1NAnonsynonymous SNVexonicENSG00000161381NAnonsynonymous SNVScore=480;Name=lod=119NA17q12Score=848;Name=V$CREBP1_Q2NANANArs751173550.07148560.07460.13490.11240.01820.0460.07590.130.09T1.0D0.994D0.004N0.000P1.975M1.79T-1.194T0.002T4.85927.75.272.6324.97115.9594.8593364.8593360.210.0743020.025647NA0.072NA15.1085314
1775299027529902GAexonicSAT2NAnonsynonymous SNVexonicENSG00000141504NAnonsynonymous SNVScore=391;Name=lod=52NA17p13.1NANANANArs138940.0762780.08150.04370.05620.07870.11550.07250.080D1.0D0.984D0.000D0.000P1.57L0.91T-0.891T0.015T4.13421.34.231.4191.8509.6664.1341254.13412500.0720930.073309NA0.051NA15.1072404
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
11726653617266536GCexonicCROCCNAnonsynonymous SNVexonicENSG00000058453NAnonsynonymous SNVScore=374;Name=lod=44NA1p36.13NANANANArs9435714NANANANANANA0.25660.360.09T1.0D0.974D..0.990D2.36M2.82T-0.955T0.000T2.78215.264.081.4325.47111.8792.7821762.7821760NANANA0.101NA15.0767334
203167161931671619GTexonicBPIFB4NAnonsynonymous SNVexonicENSG00000186191NAnonsynonymous SNVScore=464;Name=lod=103NA20q11.21NANANANArs24249430.06329870.09050.04660.05330.06660.05520.07850.10D1.0D0.999D0.000D0.081P1.65L5.03T-0.975T0.000T3.00316.013.211.7914.87910.0503.0027163.0027160.010.1039580.070032NA0.065NA15.0603754
3196050834196050834CTexonicTM4SF19NAnonsynonymous SNVexonicENSG00000145107NAnonsynonymous SNVScore=423;Name=lod=70NA3q29NAName=CTCF,USF-1,Rad21,CTCF_(SC-5916),USF1_(SC-8983)Name=51NArs356437770.04832270.1074NA0.0720.0530.01430.07190.110.24T0.999D0.992D0.001D0.000P..1.53T-1.038T0.004T2.34113.794.261.1700.5519.8522.3408522.3408520.430.0988370.064231NA0.036NA15.0551964
74808109548081095GTexonicC7orf57NAnonsynonymous SNVexonicENSG00000164746NAnonsynonymous SNVScore=352;Name=lod=36NA7p12.3NANANANArs109519420.3574280.45130.32940.35590.23830.45190.40350.440D0.989D0.962D0.000D0.000P2.32M0.93T-0.977T0.000T3.62118.435.692.6706.12717.2973.6213093.6213090.050.4281560.231053NA0.297NA15.0503774
211633917216339172GCexonicNRIP1NAnonsynonymous SNVexonicENSG00000180530NAnonsynonymous SNVScore=603;Name=lod=378NA21q11.2NANANANArs22297420.0387380.0984NA0.05620.00380.05210.08050.10.1T0.999D0.964D0.000D1.000D1.795L2.11T-1.229T0.004T2.79915.325.161.4942.23914.5152.7994332.7994330.050.1044190.01793NA0.022NA15.0500144
1207109116207109116CTexonicPIGRNAnonsynonymous SNVexonicENSG00000162896NAnonsynonymous SNVScore=349;Name=lod=35NA1q32.1Score=734;Name=V$SEF1_CName=CTCF,Rad21,CTCF_(SC-5916),SMC3_(ab9263),YY1_(C-20)Name=63NArs22755310.2963260.45630.32840.32710.19440.21470.38330.460.13T1.0D1.0D0.001N0.357P2.305M3.66T-0.911T0.000T2.77815.254.641.3520.6018.6872.777912.777910.130.4579070.218665ID=COSM425158;OCCURENCE=1(breast)0.449NA15.0358264
2170003432170003432TGexonicLRP2NAnonsynonymous SNVexonicENSG00000081479NAnonsynonymous SNVScore=536;Name=lod=202NA2q31.1NANANANArs46675910.5559110.79320.49010.72770.1460.81190.71760.790.03D0.995D0.992D0.000N0.000P3.105M-3.03D-0.903T0.000T4.84127.54.50.9576.28412.9504.8414054.8414050.070.7901160.24217ID=COSM1401028;OCCURENCE=1(large_intestine)0.587CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117509.2;CLNDSDB=.;CLNDSDBID=.15.0324174
2138759649138759649CTexonicHNMTNAnonsynonymous SNVexonicENSG00000150540NAnonsynonymous SNVScore=487;Name=lod=127NA2q22.1NANANANArs115585380.05950480.10440.03170.07780.0030.10530.10170.10.4T0.729P0.602P0.001N1.000D2.125M0.99T-1.146T0.007T4.10221.15.271.5805.28415.1714.1015884.1015880.010.1047670.023831NA0.08CLINSIG=other;CLNDBN=Asthmax2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000005467.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1869116:60080715.0224664
116851254368512543AGexonicMTL5NAnonsynonymous SNVexonicENSG00000132749NAnonsynonymous SNVScore=496;Name=lod=138NA11q13.3Score=732;Name=V$MEF2_04NANANArs123657080.04712460.11930.01880.07060.02040.02150.08640.120.2T1.0D0.999D0.000D0.000P1.04L0.75T-0.923T0.009T2.41314.035.352.0061.86913.5672.4130442.41304400.1052880.031591NA0.043NA15.0223454
12100708367100708367CTexonicSCYL2NAnonsynonymous SNVexonicENSG00000136021NAnonsynonymous SNVScore=685;Name=lod=807NA12q23.1NANANANArs339681740.03534350.1103NA0.04610.00610.02660.08380.120.83T0.996D0.919D0.000D1.000D1.725L1.52T-1.129T0.003T4.99829.35.432.7217.56819.6174.9975844.9975840.010.1193860.019746NA0.13NA15.0198474
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
16225703662257036ACexonicINADLNAnonsynonymous SNVexonicENSG00000132849NAnonsynonymous SNVScore=499;Name=lod=142NA1p31.3NANANANArs12868230.04612620.12430.02480.06340.00610.02970.07980.120.04D0.972D0.926D0.000D0.000P0.895L2.18T-1.090T0.001T1.93112.415.172.1736.05010.4151.9308371.9308370.010.1150.021788NA0.029NA15.0142334
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
175659899156598991TAexonicSEPT4NAnonsynonymous SNVexonicENSG00000108387NAnonsynonymous SNVScore=662;Name=lod=652NA17q22Score=845;Name=V$CDP_02NANANArs177414240.04353040.1243NA0.05330.00450.05110.0860.120.03D0.905P0.743P0.000D0.000P1.255L1.23T-1.087T0.002T0.9188.7365.592.1165.15113.7050.917894NA0.030.1205810.022923ID=COSM1579559;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)0.007NA15.0024524
37297136672971366GAexonicGXYLT2NAstopgainexonicENSG00000172986NAstopgainScore=425;Name=lod=71NA3p13NANANANANA0.0001996810.001NANANANANANA1T....0.000D1.000A........8.818415.782.7358.76919.6328.8177918.8177910NANANANANA14.999
11653249816532498GAexonicARHGEF19NAnonsynonymous SNVexonicENSG00000142632NAnonsynonymous SNVScore=419;Name=lod=67NA1p36.13NANANANArs412691850.03654150.1034NA0.0620.00380.03170.11350.120.02D0.999D0.983D0.000D0.000P1.54L2.17T-1.030T0.005T4.01420.64.662.1298.21615.0484.0135934.0135930.010.1196790.022923NA0.109NA14.9967544
172916765329167653ACexonicATAD5NAnonsynonymous SNVexonicENSG00000176208NAnonsynonymous SNVScore=452;Name=lod=92NA17q11.2NANANANArs37644210.1441690.10740.13590.18590.07110.25970.13220.180.01D0.998D0.939D0.813N0.080P1.905M2.94T-1.127T0.000T2.03912.785.92.2604.49116.3162.0391412.03914100.1034880.072628ID=COSM436300;OCCURENCE=1(breast)0.138NA14.9902454
6146007332146007332CTexonicEPM2ANAsynonymous SNVexonicENSG00000112425NAsynonymous SNVScore=585;Name=lod=317NA6q24.3NANANANArs352305900.1220050.22660.00890.33140.00080.14620.20510.360.02D....0.000D0.000P..-3.06D0.869D0.857D1.169.7213.811.3570.67810.7801.159735NANA0.2473260.0463NA0.246CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116986.2;CLNDSDB=.;CLNDSDBID=.14.9876406
2242407588242407588GAexonicFARP2NAnonsynonymous SNVexonicENSG00000006607NAnonsynonymous SNVScore=378;Name=lod=46NA2q37.3Score=748;Name=V$EVI1_01NANANArs413421470.08426520.11530.02580.08930.09380.09610.10340.130.61T0.999D0.997D0.000D0.000P0.96L-0.04T-1.052T0.005T4.12921.34.962.2909.09618.2384.1291994.1291990.380.1325580.085338NA0.065NA14.9820754
83984023439840234AGexonicIDO2NAnonsynonymous SNVexonicENSG00000188676NAnonsynonymous SNVScore=407;Name=lod=60NA8p11.21Score=896;Name=V$GATA1_03NANANArs47367940.1597440.10140.33430.21180.02270.18810.16030.36..0.999D0.996D0.000D0.016P1.14L0.99T-0.965T0.000T4.05720.85.292.0096.90311.6404.0569924.056992NA0.0949370.030472NA0.159NA14.9766964
10129350856129350856GCexonicNPSNAnonsynonymous SNVexonicENSG00000214285NAnonsynonymous SNVScore=503;Name=lod=148NA10q26.2NAName=STAT3NANArs47514400.04213260.1243NA0.04610.00530.04810.09570.140D1.0D0.996D0.014U0.003P..0.27T-0.966T0.006T4.52124.35.472.5784.58119.3264.5207774.52077700.1395320.022043NA0.065NA14.9738014
133148072031480720GAexonicMEDAGNAnonsynonymous SNVexonicENSG00000102802NAnonsynonymous SNVScore=562;Name=lod=256NA13q12.3Score=811;Name=V$OLF1_01NAName=9NArs714364230.0481230.12620.0020.06630.03030.02660.11370.120.06T0.999D0.991D0.021N0.100P0.695N0.75T-1.025T0.004T4.60725.14.92.2723.13714.9714.6069954.6069950.040.1228280.034667ID=COSM432293;OCCURENCE=1(breast)NANA14.9706054
2220417266220417266CTexonicOBSL1NAnonsynonymous SNVexonicENSG00000124006NAnonsynonymous SNVScore=464;Name=lod=103NA2q35Score=864;Name=V$ELK1_02Name=HEY1,HA-E2F1,CCNT2Name=136NArs593324770.3765970.45830.38190.52020.34950.22190.46830.470.43T1.0D0.997D..0.000P1.27L-0.24T-0.929T0.000T4.25222.24.612.3903.58514.2904.2524064.2524060.170.4455860.365784NA0.37NA14.9611474
213405935234059352TCexonicSYNJ1NAnonsynonymous SNVexonicENSG00000159082NAnonsynonymous SNVScore=643;Name=lod=548NA21q22.11Score=873;Name=V$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
4843508843508CTexonicGAKNAnonsynonymous SNVexonicENSG00000178950NAnonsynonymous SNVScore=611;Name=lod=405NA4p16.3NANAName=3NArs11349210.08426520.12230.13190.17150.00530.04090.12820.180.14T1.0D1.0D0.000D0.000P1.18L1.56T-1.106T0.001T3.62718.454.762.1677.29515.2713.6274613.6274610.010.1293020.025193NA0.123NA14.9535314
31296207412962074GAexonicIQSEC1NAnonsynonymous SNVexonicENSG00000144711NAnonsynonymous SNVScore=532;Name=lod=194NA3p25.2NANANANArs353196790.07987220.13620.16270.08650.00910.02760.11250.20.03D0.993D0.951D0.000D0.000P..0.36T-1.153T0.001T4.68225.94.592.1046.62917.3734.6823374.6823370.010.1353490.037222NA0.101NA14.9492844
172743846927438469GAexonicMYO18ANAnonsynonymous SNVexonicENSG00000196535NAnonsynonymous SNVScore=548;Name=lod=224NA17q11.2Score=811;Name=V$BRN2_01NANANArs80766040.5283550.45230.86710.41070.40090.51330.49250.840.76T1.0D0.997D0.000D0.000P0.655N-2.1D-0.904T0.000T5.372345.292.4689.35918.9335.3721985.37219800.4458910.410237NA0.623NA14.9426424
1201009182201009182AGexonicCACNA1SNAnonsynonymous SNVexonicENSG00000081248NAnonsynonymous SNVScore=313;Name=lod=25NA1q32.1NANANANArs121395270.2292330.10540.10910.10230.60590.06130.15490.570.02D0.999D0.994D..0.128P1.905M0.56T-0.869T0.000T3.69618.774.931.8515.6188.9083.6957573.69575700.1306980.541307NA0.246NA14.9423354
185917475959174759CAexonicCDH20NAnonsynonymous SNVexonicENSG00000101542NAnonsynonymous SNVScore=454;Name=lod=93NA18q21.33NANANANArs19433300.05930510.14610.03170.07930.01210.04810.10360.140.07T0.999D0.981D0.000D0.001P2.54M0.61T-1.047T0.004T3.26416.954.891.4113.90416.4273.2637483.2637480.120.141860.028143NA0.109NA14.9417734
9140100317140100317CGexonicNDOR1NAnonsynonymous SNVexonicENSG00000188566NAnonsynonymous SNVScore=450;Name=lod=90NA9q34.3Score=909;Name=V$AP2_Q6Name=Pol2-4H8,Pol2,HA-E2F1,TAF1,HEY1,TBPNANArs1138096170.1419730.13920.19350.13540.07490.18710.13910.20.06T0.437B0.382B0.000D0.001P2.08M-0.73T-1.031T0.001T4.12121.23.931.0251.7128.6914.1208324.1208320.090.1157710.086597ID=COSM1235562,COSM1235563;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)0.058NA14.9392624
106995924269959242CAexonicMYPNNAnonsynonymous SNVexonicENSG00000138347NAnonsynonymous SNVScore=519;Name=lod=171NA10q21.3Score=816;Name=V$PAX3_01NANANArs70794810.3402560.48410.23910.4020.21630.42020.43230.48..1.0D1.0D0.000D0.000P1.06L-0.65T-0.935T0.000T4.791275.382.8137.59519.3314.7910764.79107600.4786050.263958NA0.326CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024493.2;CLNDSDB=.;CLNDSDBID=.14.9383284
63315352833153528CTexonicCOL11A2NAnonsynonymous SNVexonicENSG00000204248NAnonsynonymous SNVScore=512;Name=lod=160NA6p21.32Score=788;Name=V$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
7126542667126542667ATexonicGRM8NAnonsynonymous SNVexonicENSG00000179603NAnonsynonymous SNVScore=676;Name=lod=747NA7q31.33Score=992;Name=V$LYF1_01NANANArs781249130.1226040.14810.20830.13690.00980.15030.13090.210.38T0.75P0.473P0.000D0.000P1.1L-2.33D-1.097T0.001T3.13516.484.881.8279.28313.6823.1350523.1350520.220.1241860.03064ID=COSM150386;OCCURENCE=1(stomach)0.065NA14.9301474
2228135631228135631CTexonicCOL4A3NAnonsynonymous SNVexonicENSG00000169031NAnonsynonymous SNVNANA2q36.3NANANANArs283819840.399960.47320.47520.44090.1520.55320.46940.470.04D1.0D1.0D0.001D0.000P2.36M-3.16D-1.332T0.000T3.79319.265.82.7402.19316.9683.7933653.79336500.4701860.210328NA0.471NA14.9205474
22125091421250914GAexonicAPOBNAnonsynonymous SNVexonicENSG00000084674NAnonsynonymous SNVScore=355;Name=lod=37NA2p24.1NANANANArs6798990.4850240.47420.86410.39190.13010.65130.48570.840.23T1.0D0.998D0.000D0.000P2.205M-0.62T-0.928T0.000T4.99429.35.732.8826.55420.2894.9939164.99391600.4622090.176804NA0.406CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116384.2;CLNDSDB=.;CLNDSDBID=.14.9112244
18334742334742CTexonicCOLEC12NAnonsynonymous SNVexonicENSG00000158270NAnonsynonymous SNVScore=363;Name=lod=40NA18p11.32Score=878;Name=V$NCX_01NANANArs23050270.3676120.4930.45630.34730.25720.31080.43530.5..1.0D0.998D0.000D0.000P1.905M2.35T-0.898T0.000T3.15716.564.51.2325.13714.4483.1566273.156627NA0.4958140.289378NA0.5NA14.9092194
2067591156759115ATexonicBMP2NAnonsynonymous SNVexonicENSG00000125845NAnonsynonymous SNVScore=534;Name=lod=198NA20p12.3Score=804;Name=V$ER_Q6NANANArs2357680.7667730.62230.82840.72910.98030.590.67430.980.01D0.978D0.871P0.000D0.000P2.855M-0.45T-1.044T0.000T2.95515.855.722.3194.86116.3632.9553362.95533600.6276740.927793NA0.674NA14.9090594
63281162932811629GTexonicPSMB8NAnonsynonymous SNVexonicENSG00000204264NAnonsynonymous SNVScore=454;Name=lod=93NA6p21.32Score=854;Name=V$OLF1_01Name=RFX5_(N-494),Pol2-4H8,Pol2NANArs20715430.1519570.14710.16770.18880.09610.19020.14530.170.26T0.226B0.092B0.000D0.000P2.125M1.88T-1.074T0.064T3.40317.495.642.8174.24615.5543.4030173.4030170.050.1334930.115639NA0.152NA14.9074404
222348248323482483GAexonicRTDR1NAnonsynonymous SNVexonicENSG00000100218NAnonsynonymous SNVScore=284;Name=lod=19NA22q11.22NAName=PAX5-C20,PAX5-N19NANArs352112420.08246810.14710.03870.08790.01820.14420.1260.160.09T1.0D0.999D0.001N0.004P2.425M2.19T-1.026T0.002T2.21813.373.891.2142.29310.8962.2180342.21803400.1558140.036087NA0.13NA14.9044194
122133154921331549TCexonicSLCO1B1NAnonsynonymous SNVexonicENSG00000134538NAnonsynonymous SNVNAName=Bilirubin levels,Response to statin therapy,Sex hormone-binding globulin levels12p12.1NANANANArs41490560.08765970.1610.1230.1340.01360.04290.12940.170D1.0D0.996D0.001N1.000P3.35M0.95T-0.941T0.001T1.92412.393.621.6417.32612.6761.9236691.92366900.1553490.036087NA0.08NA14.8875844
53400810034008100CTexonicAMACRNAnonsynonymous SNVexonicENSG00000242110NAnonsynonymous SNVNANA5p13.2NAName=Pol2(b),Sin3Ak-20,Pol2,Pol2-4H8,BAF170,HEY1,TAF1,E2F6_(H-50),YY1_(C-20),HMGN3,NRSF,NFKB,BAF155,STAT1,CCNT2,SETDB1,TBP,CTCF,Pol2(phosphoS2),c-Myc,Brg1Name=148NArs31956760.2869410.5050.35420.40780.14150.10430.42270.520.03D0.888P0.579P0.172N0.000P3.375M0.32T-0.902T0.000T3.33817.23-9.44-3.351-1.23314.2963.3375353.3375350.070.5237870.209854ID=COSM449566;OCCURENCE=3(breast)0.399CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116320.2;CLNDSDB=.;CLNDSDBID=.14.8818464
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
63163213431632134CAexonicGPANK1NAnonsynonymous SNVexonicENSG00000204438NAnonsynonymous SNVScore=466;Name=lod=104NA6p21.33NAName=HNF4G_(SC-6558),HNF4A_(H-171)NANArs31306180.1333870.14610.07140.07930.21260.11550.15010.230.08T1.0D0.997D0.000D0.000P1.04L2.66T-0.668T0.221T3.12216.435.182.4153.19416.1893.121883.121880.140.1791860.199955ID=COSM1443317;OCCURENCE=1(large_intestine)0.159NA14.8579474
195559872455598724AGexonicEPS8L1NAnonsynonymous SNVexonicENSG00000131037NAnonsynonymous SNVScore=494;Name=lod=136NA19q13.42Score=826;Name=V$AP4_01Name=Pol2NANArs10549400.4676520.5060.45140.45970.34190.62070.49830.50.22T1.0D0.998D0.000D0.000P1.71L1.81T-0.883T0.000T4.86827.84.021.7685.36011.4934.8683414.8683410.070.4934840.36149ID=COSM1481526,COSM440334;OCCURENCE=1(breast)0.326NA14.8355494
6136599393136599393GCexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=810;Name=lod=2601NA6q23.3Score=731;Name=V$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
177375309873753098GAexonicITGB4NAnonsynonymous SNVexonicENSG00000132470NAnonsynonymous SNVScore=554;Name=lod=238NA17q25.1Score=935;Name=V$HSF1_01NANANANANANANANANANA0.00005018NA0.12T0.97D0.665P0.003N1.000D0.79N0.43T-0.972T0.134T1.91512.362.981.2420.6378.4791.9152431.9152430NANANANANA14.8332832
2204001482204001482AGexonicNBEAL1NAnonsynonymous SNVexonicENSG00000144426NAnonsynonymous SNVScore=632;Name=lod=492NA2q33.2NANANANArs1829548340.000199681NANA0.0014NANA0.000058230.00280.23T0.976D0.612P0.588N1.000D2.16M0.43T-0.820T0.233T3.76319.114.781.0526.90513.0643.7632363.7632360.03NANANANANA14.8332752
9119413896119413896TCexonicASTN2NAnonsynonymous SNVexonicENSG00000148219NAnonsynonymous SNVScore=611;Name=lod=405NA9q33.1NANANANANANANANANANANA0.00009064NA..0.774P0.164B0.000D0.998D0.895L1.41T-1.104T0.051T3.36917.365.482.0855.35015.2333.3691293.3691290.18NANANANANA14.8332428
107961656479616564GAexonicDLG5NAnonsynonymous SNVexonicENSG00000151208NAnonsynonymous SNVScore=529;Name=lod=188NA10q22.3NANANANArs111767303NANANANANANA0.000066340.00010D0.999D0.906P0.004N0.977N2.08M0.53T-0.486T0.294T2.87515.583.271.2304.59415.9162.8753282.87532800.0001160NANANA14.8331511
9136277979136277979GAexonicREXO4NAnonsynonymous SNVexonicENSG00000148300NAnonsynonymous SNVScore=409;Name=lod=61NA9q34.2NANANANArs1390906490.000998403NANANANA0.00510.00080.00010.12T0.816P0.085B0.000D1.000D2.165M2.01T-0.981T0.076T4.09421.15.132.3957.09917.5574.094064.0940600.0001160NANANA14.8324174
11111707001111707001TCexonicALG9NAnonsynonymous SNVexonicENSG00000086848NAnonsynonymous SNVScore=648;Name=lod=576NA11q23.1NANAName=26NArs1385840710.0001996810.001NANANANA0.00010.00130.78T0.504P0.138B0.000D1.000D1.12L-0.99T-0.726T0.236T2.62514.745.22.0907.97415.3542.6249752.6249750.020.0001220.000269ID=COSM1193264,COSM1193263,COSM1193262;OCCURENCE=1(lung)NANA14.8321114
4120422407120422407TGexonicPDE5ANAnonsynonymous SNVexonicENSG00000138735NAnonsynonymous SNVScore=634;Name=lod=501NA4q26NANANANArs149385790NANANANANANA0.0010.00090.49T0.992D0.618P0.000D1.000D0.27N-1.46T-0.937T0.140T2.7415.125.292.0057.30415.2152.7398082.7398080.530.000930NANANA14.8314034
1228109247228109247CTexonicWNT9ANAnonsynonymous SNVexonicENSG00000143816NAnonsynonymous SNVScore=333;Name=lod=30NA1q42.13NANANANArs1458363110.0001996810.001NANANANA0.00110.0020.35T0.985D0.806P0.000D0.998D1.375L-1.02T-0.390T0.419T4.39323.24.642.4141.42010.2934.3929024.392902NA0.0019770.000227NANANA14.8292564
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
202337562423375624TCexonicNAPBNAnonsynonymous SNVexonicENSG00000125814NAnonsynonymous SNVScore=562;Name=lod=257NA20p11.21NANANANArs1178251390.0005990420.002NANANA0.0010.00160.00260.16T0.575P0.406B0.000D1.000D2.615M1.58T-0.923T0.135T2.63514.775.462.0747.92114.7102.6351592.6351590.050.0023260.000681NANANA14.8274074
201795634717956347CTexonicMGME1NAnonsynonymous SNVexonicENSG00000125871NAnonsynonymous SNVScore=401;Name=lod=57NA20p11.23NANANANArs1434174460.002196490.007NA0.0043NA0.0010.00420.010.01D0.996D0.663P0.535N1.000D1.04L0.9T-1.033T0.092T3.81119.354.551.3185.52811.4893.8113273.8113270.020.0041860.001135NANANA14.8179474
13622594836225948TCexonicCLSPNNAnonsynonymous SNVexonicENSG00000092853NAnonsynonymous SNVScore=564;Name=lod=262NA1p34.3NANANANArs75372030.4536740.13520.74010.43230.6740.20350.27180.780.13T0.999D0.994D0.000D0.015P2.215M1.73T-1.044T0.000T3.83619.485.081.9073.60013.4063.8359413.8359410.050.1334880.591693NA0.319NA14.7928454
12109623516109623516GAexonicACACBNAnonsynonymous SNVexonicENSG00000076555NAnonsynonymous SNVScore=534;Name=lod=197NA12q24.11Score=834;Name=V$HTF_01NANANArs23004550.1595450.15810.26390.15710.01590.24950.18890.280.07T1.0D0.999D0.000N0.000P1.8L-1.67D-1.256T0.000T4.26422.24.441.4028.00314.2524.2640584.26405800.198140.044939ID=COSM1358579;OCCURENCE=1(large_intestine)0.159NA14.7881934
142066579020665790TAexonicOR11G2NAnonsynonymous SNVexonicENSG00000196832NAnonsynonymous SNVScore=541;Name=lod=210NA14q11.2Score=845;Name=V$ELK1_01Name=PU.1Name=5NArs49818220.4426920.53780.51090.45820.28440.47750.49430.530.01D0.913P0.56P0.084U0.468P1.39L7.24T-1.112T0.000T3.77819.184.671.9554.83413.2303.7778653.77786500.5182560.328416NA0.457NA14.7829774
12104203321042033TCexonicKIF17NAnonsynonymous SNVexonicENSG00000117245NAnonsynonymous SNVScore=284;Name=lod=19NA1p36.12NANANANArs358359830.006589460.0249NA0.00580.00150.0020.01360.030D0.983D0.77P0.069U0.989D2.91M-0.94T-0.394T0.251T3.00816.032.270.2451.3586.4483.0081293.0081290.010.0156980.00227NA0.007NA14.7791354
1145583938145583938CGexonicPIAS3NAnonsynonymous SNVexonicENSG00000131788NAnonsynonymous SNVScore=695;Name=lod=887NA1q21.1NANANANArs173545590.006589460.0229NA0.0086NA0.00410.01370.0250.06T0.992D0.751P0.001D1.000D1.675L1.37T-1.053T0.112T2.84415.475.542.8841.65317.0272.8442672.8442670.110.0248840.003631NANANA14.7718494
1203028371203028371GTexonicPPFIA4NAnonsynonymous SNVexonicENSG00000143847NAnonsynonymous SNVScore=556;Name=lod=243NA1q32.1Score=852;Name=V$GATA1_03NANANArs617323150.1218050.17590.15770.11960.01290.17790.22190.190.1T0.905P0.826P0.000D0.000P2.045M2.17T-1.116T0.000T3.89419.84.832.4957.83411.5673.894083.894080.060.1677620.039391NA0.196NA14.7677714
167556333075563330GAexonicCHST5NAnonsynonymous SNVexonicENSG00000135702NAnonsynonymous SNVScore=289;Name=lod=20NA16q23.1NANANANArs38261070.1429710.20480.20730.13980.11040.05930.16790.20.1T0.999D0.986D0.000D0.000P2.61M1.79T-1.085T0.000T2.24213.452.841.5836.06312.6632.2421092.2421090.020.1977910.122157ID=COSM435778;OCCURENCE=2(breast)0.08NA14.7628424
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
1920980632098063ATexonicIZUMO4NAnonsynonymous SNVexonicENSG00000099840NAnonsynonymous SNVScore=415;Name=lod=65NA19p13.3NANANANArs455062000.01078270.0298NA0.01870.00230.00820.01670.030D0.994D0.824P0.003N1.000D0.805L1.93T-1.136T0.023T3.02816.12.671.6171.8154.9323.0280793.02807900.0289530.004766NA0.014NA14.7578804
4148560193148560193CTexonicPRMT10NAnonsynonymous SNVexonicENSG00000164169NAnonsynonymous SNVScore=317;Name=lod=26NA4q31.23NANAName=39NArs115573610.00818690.0338NA0.0101NANA0.0160.041T0.947P0.382B0.000D1.000D1.7L1.41T-1.073T0.017T0.9448.8515.252.4285.32113.1860.944484NA0.260.0284880.004766NANANA14.7550454
6155451352155451352GAexonicTIAM2NAnonsynonymous SNVexonicENSG00000146426NAnonsynonymous SNVScore=389;Name=lod=51NA6q25.2NANANANArs9313120.2352240.1750.30260.24640.07110.44170.22180.340.16T1.0D0.991D0.000D0.000P2.19M3.24T-1.156T0.047T2.75715.184.992.4897.13616.8522.7573892.7573890.020.1822090.112574NA0.123NA14.7543244
10101667814101667814AGexonicDNMBPNAnonsynonymous SNVexonicENSG00000107554NAnonsynonymous SNVScore=569;Name=lod=275NA10q24.2Score=857;Name=V$OCT1_02NANANArs178541340.008785940.0278NA0.00720.00080.01020.02280.0320.45T0.673P0.396B0.000D1.000D0.235N0.03T-0.988T0.062T3.12316.445.992.2917.44316.4943.1234493.1234490.010.031860.007036NANANA14.7508734
160462646046264GAexonicNPHP4NAnonsynonymous SNVexonicENSG00000131697NAnonsynonymous SNVNANA1p36.31Score=781;Name=V$HTF_01NAName=2NArs121422700.03833870.02680.0010.00860.09830.02860.03230.110.02D0.992D0.59P0.104N1.000N1.39L-2.25D-0.953T0.027T2.01312.693.771.4080.6709.0942.0130982.0130980.010.0251020.078125NA0.014NA14.7491314
109140504491405044CTexonicPANK1NAnonsynonymous SNVexonicENSG00000152782NAnonsynonymous SNVScore=586;Name=lod=322NA10q23.31NAName=HEY1,TAF1,E2F6_(H-50),YY1_(C-20),CEBPB,HA-E2F1,Pol2,Pol2-4H8,TBP,Pol2(phosphoS2),TCF4,TAF7_(SQ-8),NFKB,Nrf1Name=148NArs618534590.04692490.02580.00690.01870.09680.06240.03510.090.69T0.572P0.047B0.679N1.000D-0.345N-6.39D0.230D0.232T3.61318.392.020.603-0.1646.1263.6130663.61306600.0285370.05589NA0.051NA14.7438964
12122674780122674780CAexonicLRRC43NAnonsynonymous SNVexonicENSG00000158113NAnonsynonymous SNVScore=514;Name=lod=164NA12q24.31NANANANArs110600940.1339860.20380.03570.26660.09530.12170.17890.270.1T0.982D0.968D0.000D0.030P1.945M1.91T-1.139T0.000T4.26922.34.952.3094.53217.8074.2685324.2685320.070.2070220.100507NA0.196NA14.7436114
206159873161598731CTexonicSLC17A9NAnonsynonymous SNVexonicENSG00000101194NAnonsynonymous SNVScore=423;Name=lod=70NA20q13.33NANANANArs72717120.04173320.0378NA0.06630.09230.00310.02650.10.04D0.994D0.788P0.000N1.000D2.35M0.18T-1.052T0.013T2.90615.682.60.4512.9779.7202.9062782.90627800.0282010.083088NA0.08NA14.7408324
1219107861910786CTexonicCACNA2D4NAnonsynonymous SNVexonicENSG00000151062NAnonsynonymous SNVScore=459;Name=lod=98NA12p13.33NANANANArs626214290.01058310.0308NA0.01870.00150.00720.03950.030.31T0.973D0.848P0.000N1.000D1.805L-1.64D-0.269T0.333T3.39117.444.691.3585.69311.5043.391383.391380.20.0264610.005167NA0.014NA14.7365724
1158423565842356AGexonicOR52N2NAnonsynonymous SNVexonicENSG00000180988NAnonsynonymous SNVScore=278;Name=lod=18NA11p15.4NANANANArs81815120.4542730.53680.46920.48130.34110.48770.51210.550D0.991D0.984D0.000D0.000P3.16M8.75T-0.997T0.000T2.55314.56.092.3364.96015.4922.5526012.5526010.010.5534220.374602NA0.457NA14.7310114
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
142337556423375564GAexonicRBM23NAnonsynonymous SNVexonicENSG00000100461NAnonsynonymous SNVScore=409;Name=lod=61NA14q11.2NANANANArs726819690.0143770.0437NA0.02590.0030.00610.02810.040D0.999D0.861P0.010N1.000D1.04L3.34T-0.287T0.204T4.17121.64.832.3982.30115.1844.1705824.17058200.0377290.010669NA0.014NA14.7238044
203160755131607551GCexonicBPIFB2NAnonsynonymous SNVexonicENSG00000078898NAnonsynonymous SNVScore=422;Name=lod=69NA20q11.21NAName=CTCFNANArs617343410.009384980.0328NA0.00580.00080.00920.02970.0510.04D0.989D0.866P0.015N0.912D2.25M3.12T-1.157T0.009T3.2216.792.820.5390.2227.763.2201163.2201160.020.0508140.011575NA0.007NA14.7200194
57599690975996909GAexonicIQGAP2NAnonsynonymous SNVexonicENSG00000145703NAnonsynonymous SNVScore=425;Name=lod=71NA5q13.3NANANANArs345928280.01397760.0447NA0.02310.00080.00820.02590.0430.09T0.769P0.322B0.000D1.000D2.395M0.96T-0.979T0.041T4.05920.94.582.7176.29515.1474.0590234.0590230.150.0430230.008398NA0.014NA14.7197104
22124971621249716CTexonicAPOBNAnonsynonymous SNVexonicENSG00000084674NAnonsynonymous SNVScore=393;Name=lod=53NA2p24.1NAName=HEY1,FOXA1_(C-20),Pol2NANArs126912020.01417730.0537NA0.02160.00080.0010.0250.050.09T0.568P0.214B0.009N0.982D2.52M2.16T-1.135T0.013T3.10716.383.890.8702.80412.4033.1072033.1072030.040.0351160.006582NA0.007CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116385.2;CLNDSDB=.;CLNDSDBID=.14.7195174
111064799510647995GAexonicMRVI1NAnonsynonymous SNVexonicENSG00000072952NAnonsynonymous SNVScore=489;Name=lod=130NA11p15.4NANANANArs354681450.02496010.03780.00690.02590.0030.05930.03840.040.18T0.985D0.775P0.096N1.000D1.995M2.96T-1.221T0.022T2.998165.562.6302.30314.7632.9980592.9980590.020.0399130.00747NA0.007NA14.7172204
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
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
3194080916194080916GAexonicLRRC15NAnonsynonymous SNVexonicENSG00000172061NAnonsynonymous SNVScore=284;Name=lod=19NA3q29Score=855;Name=V$STAT5A_02NANANArs130705150.1168130.21070.06850.10520.0930.11040.18740.230.18T1.0D0.977D..0.000P2.355M2.83T-1.102T0.000T3.86919.665.152.5666.48615.3763.8687693.8687690.010.2341860.098048NA0.159NA14.7010474
78993868089938680CTexonicC7orf63NAnonsynonymous SNVexonicENSG00000105792NAnonsynonymous SNVScore=474;Name=lod=113NA7q21.13NANANANArs11349560.3805910.55770.20240.39910.28590.49690.50710.570.01D1.0D1.0D0.000D0.000P2.395M1.55T-0.886T0.000T4.16421.55.512.6014.33519.4214.1639534.1639530.010.5719020.346494NA0.449NA14.6966314
1156848946156848946GTexonicNTRK1NAnonsynonymous SNVexonicENSG00000198400NAnonsynonymous SNVScore=505;Name=lod=150NA1q23.1NANANANArs63390.02296330.0378NA0.02880.00150.05620.04240.060.13T0.573P0.186B0.350N1.000A1.165L-2.4D-0.584T0.333T2.90515.683.442.4323.5224.9862.9045942.9045940.010.0603490.011575NA0.014CLINSIG=pathogenic|pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided;CLNREVSTAT=single|single|single|single;CLNACC=RCV000013101.15|RCV000030667.21|RCV000031916.1|RCV000127263.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1257:C1833921:155240:ORPHA653|NBK1769:C0020074:256800:ORPHA642:62985007|NBK1769:C0020074:256800:ORPHA642:62985007|.14.6927844
1731955033195503CTexonicOR3A1NAnonsynonymous SNVexonicENSG00000180090NAnonsynonymous SNVScore=541;Name=lod=210NA17p13.3NANANANArs7039030.550120.54270.92660.54470.24510.58590.56140.960D1.0D0.975D0.001D0.001P3.165M-1.06T-0.966T0.000T5.418355.312.7534.59217.7105.4176565.41765600.5372090.307989NA0.514NA14.6920244
12667307626673076GAexonicAIM1LNAnonsynonymous SNVexonicENSG00000176092NAnonsynonymous SNVScore=440;Name=lod=82NA1p36.11Score=741;Name=V$TCF11MAFG_01Name=PU.1NANArs112479240.1795130.19180.14580.19310.15050.23110.26140.20.04D1.0D0.994D..0.000P0.895L1.97T-1.061T0.000T3.72418.913.011.0960.7009.8063.7243083.724308NA0.1940720.13804NA0.167NA14.6860614
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
77298514872985148CTexonicTBL2NAnonsynonymous SNVexonicENSG00000106638NAnonsynonymous SNVScore=507;Name=lod=153NA7q11.23NANANANArs356076970.01577480.0567NA0.02160.00150.00510.040.0520.29T0.969D0.585P0.000D1.000D1.07L1.6T-1.169T0.014T3.75619.075.11.5385.78612.9733.7559193.7559190.260.0520930.009305NA0.014NA14.6845404
202496455824964558TCexonicAPMAPNAnonsynonymous SNVexonicENSG00000101474NAnonsynonymous SNVScore=426;Name=lod=72NA20p11.21NANANANArs122420.01677320.0567NA0.02450.00380.00510.0430.060.37T0.966D0.493P0.000D1.000D1.765L1.87T-1.151T0.012T3.66818.645.932.2715.37812.7723.6679733.6679730.140.0569770.008625NA0.101NA14.6766564
X108708552108708552AGexonicGUCY2FNAnonsynonymous SNVexonicENSG00000101890NAnonsynonymous SNVScore=593;Name=lod=344NAXq23NANANANArs12008095NANANANANANA0.29690.410.21T0.943P0.841P0.000D0.000P2.455M-1.77D-1.168T0.000T3.57918.243.941.7648.57910.1833.5793143.57931400.3671220.071186NA0.152NA14.6693114
223668435436684354TCexonicMYH9NAnonsynonymous SNVexonicENSG00000100345NAnonsynonymous SNVScore=576;Name=lod=293NA22q12.3NAName=ZEB1_(SC-25388)Name=16NArs22695290.2941290.20780.59520.21180.04310.47030.25840.620.04D0.042B0.041B0.000N0.000P0.645N-1.05T-0.911T0.000T0.2535.3674.471.0134.18611.6750.25298NA0.020.198140.072401NA0.188CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=MYH9_related_disorders|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000032225.1|RCV000037563.1;CLNDSDB=GeneReviews:MedGen|.;CLNDSDBID=NBK2689:CN073381|.14.6689934
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
1881918881918GAexonicNOC2LNAnonsynonymous SNVexonicENSG00000188976NAnonsynonymous SNVScore=624;Name=lod=456NA1p36.33NANANANArs354718800.0293530.0567NA0.02590.00380.06850.0470.0620.03D0.81P0.183B0.000D0.999D1.655L0.92T-1.137T0.012T2.50314.334.091.0977.44912.6712.5032262.5032260.050.0616280.01498NA0.007NA14.6680054
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
27427432974274329CTexonicTET3NAnonsynonymous SNVexonicENSG00000187605NAnonsynonymous SNVScore=265;Name=lod=16NA2p13.1Score=781;Name=V$PPARG_03NANANArs617411710.0243610.0755NA0.0490.00150.01020.04280.070.18T0.976D0.761P..0.998D0.345N2.56T-1.156T0.009T1.99512.635.842.7682.99618.8991.9952781.9952780.190.0571630.010659NA0.007NA14.6578704
97315098473150984CTexonicTRPM3NAnonsynonymous SNVexonicENSG00000083067NAnonsynonymous SNVScore=642;Name=lod=540NA9q21.12Score=796;Name=V$STAT5A_02NANAScore=68;Name=2428685_0_+_68rs65601420.6008390.58350.79370.57640.62780.40080.57870.810.25T0.998D0.986D0.000D0.000P0.695N0.36T-0.995T0.000T4.76526.75.772.7297.48719.9984.7651984.7651980.160.5512790.620744NA0.659NA14.6198544
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
9131909736131909736CTexonicPPP2R4NAnonsynonymous SNVexonicENSG00000119383NAnonsynonymous SNVScore=243;Name=lod=13NA9q34.11NANANANArs24804520.07927320.06660.18550.03750.00150.11760.08080.190.03D0.994D0.788P0.003N0.000P1.955M1.94T-1.099T0.000T5.642364.261.1684.08812.7515.6424915.6424910.010.074070.019746NA0.036NA14.6118634
223076214030762140GAexonicCCDC157NAnonsynonymous SNVexonicENSG00000187860NAnonsynonymous SNVScore=540;Name=lod=208NA22q12.2Score=909;Name=V$RORA1_01NANANArs7402230.1591450.26940.14680.15710.14150.08380.19610.260.15T1.0D1.0D..0.000P1.905M1.46T-1.212T0.000T5.589355.252.6139.06017.3825.5889285.5889280.040.2562790.151384NA0.275NA14.6115544
6143825104143825104GTexonicFUCA2NAnonsynonymous SNVexonicENSG00000001036NAnonsynonymous SNVScore=272;Name=lod=17NA6q24.2NANANANArs111552970.08905750.27240.0020.12680.01440.06440.18550.280.5T0.999D0.995D0.000D0.000P2.525M0.47T-0.700T0.216T2.69814.983.811.3467.63811.8252.6981812.69818100.2653490.047435ID=COSM1440900;OCCURENCE=1(large_intestine)0.152NA14.6100844
115918991259189912GAexonicOR5A2NAnonsynonymous SNVexonicENSG00000172324NAnonsynonymous SNVScore=346;Name=lod=34NA11q12.1NANANANArs14535470.1259980.25150.11210.13110.02420.14520.2090.260.01D0.997D0.993D0.004U0.259P2.45M8.76T-0.551T0.000T3.86619.644.551.4283.15713.8893.865683.865680.020.2628640.058155NA0.109NA14.6099694
115922460859224608AGexonicOR4D6NAnonsynonymous SNVexonicENSG00000166884NAnonsynonymous SNVScore=410;Name=lod=62NA11q12.1NANANANArs14535440.12520.25250.11410.13260.01970.14310.20920.270D0.939P0.76P0.000D0.403P3.205M2.99T-1.061T0.000T2.19313.294.881.0887.51611.1492.192612.1926100.2635620.055429ID=COSM1178424;OCCURENCE=1(prostate)0.094NA14.6080714
47766029977660299TGexonicSHROOM3NAnonsynonymous SNVexonicENSG00000138771NAnonsynonymous SNVScore=462;Name=lod=101NA4q21.1Score=860;Name=V$ARP1_01NANANArs619992920.0331470.07160.0010.05480.00450.05010.06310.0930.23T0.952P0.444B0.000D0.765N1.955M0.91T-1.111T0.006T2.14113.123.751.1682.67310.1622.1411292.1411290.50.0929070.016568NANANA14.6057264
168425610384256103CTexonicKCNG4NAnonsynonymous SNVexonicENSG00000168418NAnonsynonymous SNVScore=552;Name=lod=234NA16q24.1NANANANArs356499800.06409740.08550.10020.03750.01590.0890.07570.10.05D0.891P0.382B0.000D1.000D0.915L0.91T-1.178T0.004T4.77126.85.612.6314.93418.6274.77124.7712NA0.0754650.023636NA0.065NA14.5966684
195646737556467375CTexonicNLRP8NAnonsynonymous SNVexonicENSG00000179709NAnonsynonymous SNVNANA19q13.43NAName=FOXA1_(C-20)Name=5NArs414816480.09584660.08250.06850.06050.13090.11550.08990.130.01D0.999D0.804P..1.000P1.245L-2.36D-0.660T0.017T1.47510.88-3.03-0.773-1.6706.6281.4746751.4746750.050.0808140.116205NA0.058NA14.5801194
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
1189330648933064GAexonicAKIP1NAnonsynonymous SNVexonicENSG00000166452NAnonsynonymous SNVScore=352;Name=lod=36NA11p15.4NAName=TAF1,Pol2,Ini1,AP-2gammaName=71NArs11338330.1206070.27240.0030.21040.01210.16870.25090.280.12T0.996D0.987D0.084N0.991P2.3M1.53T-1.080T0.000T2.71915.052.090.7931.4614.5902.7185452.7185450.110.2566340.048864NA0.138NA14.5533994
48858313588583135ATexonicDMP1NAnonsynonymous SNVexonicENSG00000152592NAnonsynonymous SNVScore=304;Name=lod=23NA4q22.1NANANANArs100190090.2889380.23260.42560.32850.26250.21370.28130.420D1.0D0.966D0.000D0.818P1.7L0.37T-0.951T0.000T2.13313.094.142.0452.4189.4672.1325362.13253600.2661630.295506NA0.319NA14.5532704
225065642850656428GAexonicTUBGCP6NAnonsynonymous SNVexonicENSG00000128159NAnonsynonymous SNVScore=317;Name=lod=26NA22q13.33Score=811;Name=V$MIF1_01NANANArs353813940.04392970.09740.0040.08650.00680.05010.08740.10.19T0.999D0.893P0.191N1.000D0N3.04T-1.031T0.003T3.34617.274.652.1266.64617.5103.3462693.34626900.1010310.024659NA0.043NA14.5475024
79273376692733766CAexonicSAMD9NAnonsynonymous SNVexonicENSG00000205413NAnonsynonymous SNVScore=265;Name=lod=16NA7q21.2NANANANArs102794990.0968450.09740.13590.09940.11950.02350.09080.160.01D0.982D0.489P0.000U0.265P2.32M2.29T-1.058T0.000T1.1499.683.371.1473.69511.0891.14894NA0.010.1022330.131866NA0.072NA14.5429004
1153644505364450AGexonicOR51B5NAnonsynonymous SNVexonicENSG00000242180NAnonsynonymous SNVScore=259;Name=lod=15NA11p15.4NANANANArs110369120.3256790.44040.17960.40350.25950.39260.41390.450D0.991D0.881P0.000D0.000P2.78M3.99T-0.910T0.000T3.51417.954.762.0172.29613.2953.5138683.51386800.4471720.279191NA0.362NA14.5318614
1156526387156526387CGexonicIQGAP3NAnonsynonymous SNVexonicENSG00000183856NAnonsynonymous SNVScore=387;Name=lod=50NA1q23.1Score=811;Name=V$HEN1_01NANANArs112644980.3781950.62720.42860.55190.14070.26790.53760.640.01D0.994D0.97D0.000D0.000P1.805L2.62T-1.148T0.066T4.362235.542.5895.76918.0564.3619374.36193700.6383720.237177NA0.312NA14.5301614
33835796138357961CGexonicSLC22A14NAnonsynonymous SNVexonicENSG00000144671NAnonsynonymous SNVNANA3p22.2Score=969;Name=V$AREB6_04NANANArs2400330.255990.25350.25990.27670.25040.24740.27250.320.03D1.0D0.999D0.000D1.000P2.94M-1.32T-1.143T0.000T1.94912.472.390.6992.6936.0191.9489471.9489470.10.2832560.267817NA0.326NA14.5240774
7100771717100771717GAexonicSERPINE1NAnonsynonymous SNVexonicENSG00000106366NAnonsynonymous SNVScore=361;Name=lod=39NA7q22.1NAName=Pol2,Pol2(b)Name=31NArs60920.07148560.09840.09720.08070.00230.10430.09640.120.27T0.562P0.275B0.165N0.999P0N-1.83D-0.906T0.008T1.45110.793.882.6220.6869.6711.4507581.4507580.40.1172090.022923NA0.13CLINSIG=pathogenic;CLNDBN=Plasminogen_activator_inhibitor_type_1_deficiency;CLNREVSTAT=single;CLNACC=RCV000014541.23;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2750067:613329:ORPHA46514.5213244
3129284818129284818ACexonicPLXND1NAnonsynonymous SNVexonicENSG00000004399NAnonsynonymous SNVScore=533;Name=lod=196NA3q22.1NANANANArs26259730.1767170.30720.0030.18590.21710.16050.22390.30.01D1.0D0.998D0.000D0.000P2.215M2.34T-1.040T0.000T2.19113.282.20.5001.7159.4372.1914432.1914430.160.2820930.223332NA0.348NA14.5201404
64189515041895150GAexonicBYSLNAnonsynonymous SNVexonicENSG00000112578NAnonsynonymous SNVScore=525;Name=lod=181NA6p21.1NANANANArs22969160.07587860.09740.14780.03890.00380.10330.10790.150.02D0.856P0.161B0.000D0.000P2.275M1.98T-1.016T0.035T5.362344.622.1249.17717.0725.3619815.3619810.030.1084880.017249NA0.029NA14.5195454
67415534674155346GTexonicMB21D1NAnonsynonymous SNVexonicENSG00000164430NAnonsynonymous SNVScore=309;Name=lod=24NA6q13NANANANArs6109130.5027960.64410.5020.3890.36910.61960.56050.630.01D1.0D0.988D0.001D0.481P2.43M3.18T-1.151T0.046T1.83412.095.092.5251.97911.4901.8339031.8339030.010.6213040.401591NA0.645NA14.5074294
1145075683145075683CTexonicPDE4DIPNAstopgainexonicENSG00000178104NAstopgainScore=329;Name=lod=29NA1q21.1NAName=Pol2,ZNF274,SUZ12,TAF1,CCNT2,CtBP2,TBPName=117NArs2762779NANANANANANA0.49990.511T......1.000A........4.41923.53.722.0682.19111.1874.4186074.4186070NANAID=COSM423677;OCCURENCE=1(breast)0.442NA14.5001
225100995351009953CTexonicCPT1BNAnonsynonymous SNVexonicENSG00000205560NAnonsynonymous SNVScore=358;Name=lod=38NA22q13.33NANANANArs4701170.3348640.46020.45930.43520.09150.33540.42040.470.15T0.966D0.503P0.000D0.000P2.155M-2.46D-1.118T0.000T3.38617.425.312.7682.82716.5113.3856323.3856320.050.4575580.156378NA0.435NA14.4951754
191599043115990431CTexonicCYP4F2NAnonsynonymous SNVexonicENSG00000186115NAnonsynonymous SNVScore=503;Name=lod=147Name=Vitamin E levels,Acenocoumarol maintenance dosage,Warfarin maintenance dose,Response to Vitamin E supplementation,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
116740236267402362TGexonicTBX10NAnonsynonymous SNVexonicENSG00000167800NAnonsynonymous SNVScore=529;Name=lod=189NA11q13.2Score=845;Name=V$GATA1_02NANANArs37589380.2172520.30420.1310.42360.16260.14420.25690.390D0.999D0.986D0.000D0.074P1.605L-2.3D-1.097T0.000T2.23713.441.70.0397.5958.5722.2370932.23709300.2934330.173864NA0.304NA14.4788004
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
116883136468831364GAexonicTPCN2NAnonsynonymous SNVexonicENSG00000162341NAnonsynonymous SNVScore=349;Name=lod=35NA11q13.3NANANANArs729289780.03973640.14020.0050.04180.00450.01840.09970.160.48T0.993D0.769P0.000D0.000P1.885L-5.18D-0.796T0.061T3.99520.54.62.1237.79817.0183.9948843.9948840.020.1185370.022045NA0.072NA14.4748964
116190844061908440TCexonicINCENPNAnonsynonymous SNVexonicENSG00000149503NAnonsynonymous SNVScore=509;Name=lod=156NA11q12.3Score=864;Name=V$TAL1BETAITF2_01NANANArs22772830.1703270.30020.07440.19160.14980.14830.24890.320.21T0.999D0.99D0.000D0.000P1.79L1.05T-1.040T0.000T2.80315.335.462.0816.82613.5012.8027152.80271500.3105370.176431NA0.181NA14.4736964
113496911234969112AGexonicPDHXNAnonsynonymous SNVexonicENSG00000110435NAnonsynonymous SNVScore=500;Name=lod=143NA11p13Score=830;Name=V$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
4126372742126372742GAexonicFAT4NAnonsynonymous SNVexonicENSG00000196159NAnonsynonymous SNVScore=358;Name=lod=38NA4q28.1NANANANArs15670470.2306310.29520.39090.25220.02420.26280.26730.390.02D1.0D1.0D0.005U0.000P2.38M0.59T-1.086T0.000T4.43623.65.772.7249.66619.9984.4359574.4359570.060.2997670.066273NA0.13NA14.4710664
2237103697237103697GTexonicASB18NAnonsynonymous SNVexonicENSG00000182177NAnonsynonymous SNVScore=284;Name=lod=19NA2q37.2NANANANArs101779570.1084270.13520.0020.07350.17320.12780.12280.160.03D0.964D0.71P..0.000P2.63M1.15T-1.028T0.001T3.56118.153.732.4113.58811.2763.5610213.56102100.1143060.156621NA0.13NA14.4610274
33705356837053568AGexonicMLH1NAnonsynonymous SNVexonicENSG00000076242NAnonsynonymous SNVScore=558;Name=lod=247NA3p22.2Score=906;Name=V$YY1_01NANANArs17999770.1295930.3250.02580.16860.03860.13090.23250.340.62T0.018B0.074B0.000D0.000P0.78N-1.74D-1.077T0.000T2.40814.014.612.2092.4467.4842.4080112.4080110.270.3202330.092147ID=COSM1131469;OCCURENCE=1(prostate)0.217CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome,Lynch_syndrome|not_provided|not_specified|Neoplastic_Syndromesx2c_Hereditary;CLNREVSTAT=exp,exp|single|mult|single;CLNACC=RCV000075795.1,RCV000030230.2|RCV000034548.1|RCV000035355.3|RCV000131385.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT,GeneReviews:MedGen:SNOMED_CT|.|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005,NBK1211:C0009405:315058005|.|.|C002767214.4556004
224291209742912097CTexonicRRP7ANAnonsynonymous SNVexonicENSG00000189306NAnonsynonymous SNVScore=295;Name=lod=21NA22q13.2NAName=TCF4Name=6NArs115534410.07607830.14610.0030.17720.05670.03370.12710.20.12T0.941P0.373B0.000D0.000P2M2.21T-1.004T0.000T1.2129.9192.90.9463.84512.1151.211667NA00.1374420.077621NA0.167NA14.4226914
1203194186203194186CTexonicCHIT1NAnonsynonymous SNVexonicENSG00000133063NAnonsynonymous SNVScore=444;Name=lod=85NA1q32.1NANANANArs22979500.2909350.32310.28470.32710.27380.26180.30230.320D1.0D0.999D0.000D0.000P1.715L3.81T-0.942T0.000T3.98520.42.590.3194.9977.7553.9853283.98532800.2932560.269632ID=COSM146738;OCCURENCE=1(stomach)0.239CLINSIG=pathogenic;CLNDBN=Chitotriosidase_deficiency;CLNREVSTAT=single;CLNACC=RCV000010134.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3279902:61412214.4146774
3161221705161221705ACexonicOTOL1NAnonsynonymous SNVexonicENSG00000182447NAnonsynonymous SNVScore=539;Name=lod=206NA3q26.1Score=973;Name=V$NFAT_Q6NANANArs39215950.4926120.46620.27080.42220.64750.5890.48240.660.02D0.979D0.628P0.000D0.902P1.445L-2.75D-0.934T0.000T2.51714.382.860.3235.6008.762.5167472.5167470.030.4708760.601686NA0.587NA14.4138574
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
7113518434113518434CAexonicPPP1R3ANAnonsynonymous SNVexonicENSG00000154415NAnonsynonymous SNVScore=272;Name=lod=17NA7q31.1NANANANArs17999990.3087060.11530.64090.20460.17930.41410.21910.690.01D0.976D0.72P0.025N0.836P1.78L2.05T-0.998T0.000T1.89312.295.642.6463.20911.6401.8930321.89303200.1049080.194734NA0.196CLINSIG=other;CLNDBN=Insulin_resistancex2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000009243.1;CLNDSDB=MedGen;CLNDSDBID=C185209114.3940254
115612808156128081AGexonicOR8J1NAnonsynonymous SNVexonicENSG00000172487NAnonsynonymous SNVScore=503;Name=lod=147NA11q12.1Score=848;Name=V$HNF4_01_BNANANArs108962900.2202480.3280.13690.18730.25420.17280.27980.340.01D0.108B0.109B0.000D0.590P3.185M7.03T-0.963T0.000T1.86312.194.761.9103.62413.3741.8633211.8633210.030.3420620.281236ID=COSM1180651;OCCURENCE=1(upper_aerodigestive_tract)0.203NA14.3834714
165794922457949224GTexonicCNGB1NAnonsynonymous SNVexonicENSG00000070729NAnonsynonymous SNVScore=440;Name=lod=82NA16q21NANANANArs104598090.09225240.170.01390.10660.10360.06750.13510.180.33T0.46P0.298B0.000D0.000P1.48L-4.22D-0.886T0.013T2.09512.965.562.6086.29918.5132.0953222.0953220.210.1549520.10647NA0.072CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079630.1|RCV000086948.1;CLNDSDB=.|.;CLNDSDBID=.|.14.3732814
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
125286606052866060CTexonicKRT6CNAnonsynonymous SNVexonicENSG00000170465NAnonsynonymous SNVScore=363;Name=lod=40NA12q13.13NANANANArs116089150.4005590.46820.5060.32710.19970.5460.51440.490.03D0.998D0.899P0.000D0.002P2.93M-2.97D-1.273T0.000T3.41217.532.120.8145.70411.1953.4123293.4123290.050.4917390.253975NA0.232NA14.3589944
57617125276171252ACexonicS100ZNAnonsynonymous SNVexonicENSG00000171643NAnonsynonymous SNVScore=462;Name=lod=101NA5q13.3NAName=JunD,IRF4_(M-17),PU.1Name=67NArs13203080.5527160.69580.56150.66280.57410.28940.61660.690.08T1.0D0.986D0.000D0.000P..2.7T-1.003T0.000T3.31217.135.582.1185.88115.4183.3118333.3118330.020.6752710.5727NA0.478NA14.3456624
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
125318969653189696CGexonicKRT3NAnonsynonymous SNVexonicENSG00000186442NAnonsynonymous SNVScore=243;Name=lod=13NA12q13.13NANANANArs287214260.1383790.1630.0020.11670.29430.05830.14780.30.21T0.998D0.89P0.000D0.282P0.86L-3.28D-1.319T0.000T0.8738.5384.942.4604.30816.0490.872561NA0.170.1793440.266228NA0.188NA14.3431894
156523577665235776AGexonicANKDD1ANAnonsynonymous SNVexonicENSG00000166839NAnonsynonymous SNVScore=429;Name=lod=74NA15q22.31Score=968;Name=V$GATA6_01NANANArs349881930.2462060.3360.1270.2320.12630.44890.31650.350.2T0.999D0.958D0.000D0.000P1.16L2.38T-0.921T0.000T4.07120.94.271.0468.22711.4734.0711064.0711060.010.3455450.171889ID=COSM1129152;OCCURENCE=1(prostate)0.152NA14.3352884
5137500665137500665GAexonicBRD8NAnonsynonymous SNVexonicENSG00000112983NAnonsynonymous SNVScore=533;Name=lod=195NA5q31.2Score=862;Name=V$STAT5A_01NANANArs117508140.1166130.1730.01590.0980.05820.25460.1520.180.03D0.993D0.459P0.128N0.009P0N1.88T-1.052T0.000T3.526185.552.8944.89918.6843.5258173.5258170.010.1739530.082388NA0.196NA14.3343804
49932565299325652GCexonicRAP1GDS1NAnonsynonymous SNVexonicENSG00000138698NAnonsynonymous SNVScore=687;Name=lod=823NA4q23Score=892;Name=V$FOXD3_01NANANANANANANANANANANANA0.48T0.224B0.076B0.003N0.987D0.69N1.06T-1.067T0.059T1.89112.284.852.7414.5797.0011.8911071.8911070.22NANANANANA14.3333334
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
178001181380011813CAexonicGPS1NAnonsynonymous SNVexonicENSG00000169727NAnonsynonymous SNVScore=663;Name=lod=662NA17q25.3NANANANANANANANANANANANANA0.34T0.905P0.561P..0.992D1.375L..-0.817T0.203T2.85715.524.472.2786.93417.2952.8574262.8574260.16NANANANANA14.3333334
1202731846202731846GTexonicKDM5BNAnonsynonymous SNVexonicENSG00000117139NAnonsynonymous SNVScore=507;Name=lod=154NA1q32.1NANANANArs373039357NANANANANANA0.0000082390.00020.03D0.001B0.004B0.684N0.734N1.39L-1.82D-0.226T0.567D-0.3762.235.462.5544.61917.493-0.376324NA0.1300.000227NANANA14.3333252
2220161785220161785GCexonicPTPRNNAnonsynonymous SNVexonicENSG00000054356NAnonsynonymous SNVScore=619;Name=lod=439NA2q35NANAName=2NArs200950374NANANANANANA0.00007424NA0.22T0.074B0.037B0.000D1.000D0.345N2.57T-1.032T0.024T2.66414.874.312.2249.09516.5922.6636132.6636130NANANANANA14.3332592
11646465316464653GCexonicEPHA2NAnonsynonymous SNVexonicENSG00000142627NAnonsynonymous SNVScore=401;Name=lod=57NA1p36.13NANANANArs146085387NANANANANANA0.00010.00050D0.938P0.589P0.010N1.000D1.185L0.39T-0.766T0.175T2.98415.954.972.4881.10816.1092.9836262.98362600.0004650NANANA14.3327684
147205574572055745AGexonicSIPA1L1NAnonsynonymous SNVexonicENSG00000197555NAnonsynonymous SNVScore=443;Name=lod=84NA14q24.2NANAName=3NArs1474544580.00139776NA0.001NA0.0030.0020.00060.010.52T0.017B0.037B0.000D1.000D0.69N-0.89T-0.802T0.189T1.36910.56.072.3263.88516.6411.3687821.3687820.10.0002330.001135NANANA14.3325004
62940857129408571GTexonicOR10C1NAnonsynonymous SNVexonicENSG00000206474NAnonsynonymous SNVScore=325;Name=lod=28NA6p22.1NANANANArs145984332NANANANANANA0.00040.00060.03D1.0D0.996D0.026N1.000N2.335M1.24T-1.012T0.139T2.95115.843.351.716-0.15012.2752.9513062.95130600.0005540.000331NANANA14.3323794
7151800292151800292AGexonicGALNT11NAnonsynonymous SNVexonicENSG00000178234NAnonsynonymous SNVScore=474;Name=lod=113NA7q36.1NANANANArs560990660.0001996810.001NANANANA0.00020.00080.07T0.998D0.959D0.000D1.000N1.99M0.39T-0.896T0.185T4.14321.43.850.7549.26210.5304.1432734.14327300.0008140NANANA14.3313194
168871323688713236AGexonicCYBANAnonsynonymous SNVexonicENSG00000051523NAnonsynonymous SNVScore=414;Name=lod=64NA16q24.3NAName=Pol2-4H8,EBFNANArs46730.6643370.65810.91570.69310.49170.62470.69080.940.45T1.0D0.999D0.000N0.046P2.47M-2.1D-0.917T0.000T2.22613.43.460.6164.4158.0662.2257982.2257980.410.6565120.55323NA0.558CLINSIG=non-pathogenic;CLNDBN=CYBA_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000002351.1;CLNDSDB=.;CLNDSDBID=.14.3279214
1171168584171168584CTexonicFMO2NAnonsynonymous SNVexonicENSG00000094963NAnonsynonymous SNVScore=407;Name=lod=60NA1q24.3Score=871;Name=V$IRF7_01NANANArs20208620.4728430.29620.54560.48270.52650.50.3960.490D0.238B0.366B0.000D0.000P4.705H0.18T-0.027T0.470T4.28322.46.172.9415.98019.6514.2833244.28332400.3201160.493418ID=COSM146682;OCCURENCE=1(stomach)NANA14.3210174
1160237626023762CTexonicOR56A4NAnonsynonymous SNVexonicENSG00000183389NAnonsynonymous SNVNANA11p15.4NANAName=8NArs178095270.001198080.005NA0.0014NANA0.00270.00480D0.875P0.499P0.004U0.949N3.015M1.2T-0.830T0.145T2.1713.213.591.9812.6398.3532.1701362.1701360.010.0047720.000909NANANA14.3208614
156932822669328226CTexonicNOX5NAnonsynonymous SNVexonicENSG00000255346NAnonsynonymous SNVScore=530;Name=lod=190NA15q23NAName=Max,CTCFL_(SC-98982),Rad21,CTCF,c-Myc,CTCF_(C-20),Znf143_(16618-1-AP),CTCF_(SC-5916),E2F6_(H-50),SMC3_(ab9263)Name=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
122162454621624546CGexonicRECQLNAnonsynonymous SNVexonicENSG00000004700NAnonsynonymous SNVScore=349;Name=lod=35NA12p12.1NANANANArs64990.001797120.006NA0.0043NANA0.00390.010.07T0.056B0.05B0.001D1.000D2.38M0.96T-0.919T0.121T3.01416.055.522.8785.17119.6363.0143383.0143380.080.0048840.001135NANANA14.3185494
78276439382764393CTexonicPCLONAnonsynonymous SNVexonicENSG00000186472NAnonsynonymous SNVScore=449;Name=lod=89NA7q21.11Score=724;Name=V$P53_01NANANArs617301640.002396170.0080.0010.0029NA0.0010.00560.010D0.091B0.027B..1.000D0.895L2.36T-1.082T0.022T2.19513.33.652.7991.2788.7552.1945962.1945960.020.0028070.000535NANANA14.3169264
78158861681588616TGexonicCACNA2D1NAnonsynonymous SNVexonicENSG00000153956NAnonsynonymous SNVScore=624;Name=lod=458NA7q21.11NANANANArs351314330.001797120.008NA0.0014NANA0.00280.0110.23T0.423B0.228B0.000D1.000D2.19M0.09T-0.785T0.174T2.85415.515.842.2275.65316.2132.8543252.8543250.080.0063950.002497NA0.014NA14.3161384
39798371197983711TCexonicOR5H6NAnonsynonymous SNVexonicENSG00000230301NAnonsynonymous SNVScore=352;Name=lod=36NA3q11.2NANANANArs98538870.6250.68490.6210.5980.5870.6380.6560.680D0.999D0.991D0.000D0.000P4.42H0.02T-0.900T0.000T2.72315.072.191.0066.5067.9662.7227412.72274100.6787710.631244NA0.457NA14.3136624
79494608494946084ATexonicPON1NAnonsynonymous SNVexonicENSG00000005421NAnonsynonymous SNVScore=505;Name=lod=151NA7q21.3NAName=PU.1Name=4NArs8545600.1827080.35790.03370.20610.14980.1840.29130.370.02D0.983D0.925D0.001D0.500P1.845L0.79T-1.032T0.000T3.7118.84-1.76-0.0660.1964.2103.70953.70950.040.3730230.172946NA0.275CLINSIG=other|other|pathogenic;CLNDBN=Coronary_artery_diseasex2c_susceptibility_to|Microvascular_complications_of_diabetes_5|Enzyme_activity_finding;CLNREVSTAT=single|single|single;CLNACC=RCV000014742.1|RCV000014743.1|RCV000133465.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=C1840169|C2674665:612633|C1827841:42401700914.3111104
101323965113239651AGexonicMCM10NAnonsynonymous SNVexonicENSG00000065328NAnonsynonymous SNVScore=461;Name=lod=100NA10p13Score=860;Name=V$COUP_01NANANArs22741100.1092250.19480.10020.1340.01290.14310.14180.190.16T0.98D0.85P0.000D0.000P1.84L2.2T-1.141T0.000T4.70526.15.332.1457.02115.6244.7047654.7047650.070.1866280.038811ID=COSM146882;OCCURENCE=1(stomach)0.138NA14.3101054
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
12133257837133257837CAexonicPOLENAnonsynonymous SNVexonicENSG00000177084NAnonsynonymous SNVScore=524;Name=lod=180NA12q24.33Score=833;Name=V$PAX4_01NANANArs340474820.008785940.0129NA0.0331NA0.00820.01220.040.52T0.035B0.047B0.000D1.000D1.555L4.22T-0.911T0.004T2.107134.832.3957.32217.8882.1070272.1070270.480.0219770.004312NA0.072NA14.2862564
45784311457843114CGexonicNOA1NAnonsynonymous SNVexonicENSG00000084092NAnonsynonymous SNVScore=445;Name=lod=86NA4q12NAName=CTCF,c-Myc,CTCF_(SC-5916),Pol2Name=34NArs2009296360.006389780.0209NA0.00580.00080.00610.01550.030.36T0.435B0.057B0.107N0.994D1.32L1.52T-1.099T0.019T0.215.134.521.2060.9738.4770.209587NA0.290.0128360.002101NA0.007NA14.2840974
1163404166340416GAexonicPRKCDBPNAnonsynonymous SNVexonicENSG00000170955NAnonsynonymous SNVNANA11p15.4NAName=Pol2,Pol2-4H8,TAF1,AP-2gamma,TBP,AP-2alphaName=51NArs122946000.05611020.0129NA0.02160.18310.01120.02670.190D0.852P0.452P0.780N0.989P0.805L1.2T-1.081T0.000T2.53114.425.122.4013.17014.0662.531272.5312700.0123370.175829NA0.043NA14.2813964
1975730987573098TAexonicC19orf45NAnonsynonymous SNVexonicENSG00000198723NAnonsynonymous SNVScore=346;Name=lod=34NA19p13.2Score=917;Name=V$MSX1_01Name=c-Jun,FOSL1_(SC-183),Pol2,Pol2-4H8,c-Fos,eGFP-FOS,eGFP-JunDNANArs4759230.2883390.36280.17460.38330.2950.25260.3270.420.8T1.0D0.999D0.020N0.556P1.905M1.24T-0.972T0.000T2.43714.114.051.8390.0479.5772.4365922.4365920.870.3639220.298457ID=COSM440623;OCCURENCE=1(breast)0.362NA14.2796114
31957523219575232CTexonicKCNH8NAnonsynonymous SNVexonicENSG00000183960NAnonsynonymous SNVScore=317;Name=lod=26NA3p24.3NANANANArs345616540.006389780.0209NA0.00720.00150.00410.01310.02..0.0B0.001B0.135U1.000D0.44N-4.77D0.008D0.620D-1.0290.223.091.0480.8602.446-1.029365NA0.510.0202330.004766NA0.007NA14.2791004
1731015783101578GTexonicOR1A2NAnonsynonymous SNVexonicENSG00000172150NAnonsynonymous SNVScore=259;Name=lod=15NA17p13.3Score=688;Name=V$P53_01NANANArs22410910.281550.35090.55950.28530.03180.25870.34040.550D1.0D0.999D0.000D0.985P1.595L8.71T-1.124T0.000T2.29213.623.021.0300.1253.7972.2920252.2920250.030.3695350.094644NA0.29NA14.2724984
177254093672540936GAexonicCD300CNAnonsynonymous SNVexonicENSG00000167850NAnonsynonymous SNVNANA17q25.1NANANANArs118702450.09904150.0119NA0.03890.31850.03680.03950.320.03D1.0D0.996D0.010N1.000P2.79M3.63T-0.998T0.000T2.55814.513.361.1472.7118.9082.5578142.55781400.015930.25261NA0.123NA14.2660034
118542040185420401GAexonicSYTL2NAnonsynonymous SNVexonicENSG00000137501NAnonsynonymous SNVScore=573;Name=lod=283NA11q14.1NANANANArs617406160.01357830.02390.0040.03750.00080.01330.02480.04..0.999D0.955D0.000N1.000D0.645N-0.36T-0.736T0.105T3.20416.735.271.6433.86215.8953.2038823.2038820.170.0232610.004539NA0.007NA14.2613724
11108409784108409784TAexonicEXPH5NAnonsynonymous SNVexonicENSG00000110723NAnonsynonymous SNVScore=399;Name=lod=56NA11q22.3NANANANArs26407850.2523960.170.58040.35010.03930.21780.23220.620D0.989D0.836P0.036N0.000P2.125M3.92T-0.888T0.000T4.32322.74.992.0124.09411.3854.3227844.32278400.1700790.063835NA0.174NA14.2610544
1644453274445327CTexonicCORO7,CORO7-PAM16NAnonsynonymous SNVexonicENSG00000103426,ENSG00000262246NAnonsynonymous SNVScore=428;Name=lod=73NA16p13.3Score=883;Name=V$COUP_01NANANArs37475790.5073880.70970.78170.58360.11720.48980.64990.820.04D0.998D0.988D0.043N0.000P2.75M4.88T-0.967T0.000T3.48717.844.172.1351.09611.8643.4874983.4874980.040.7155810.218707ID=COSM435259;OCCURENCE=1(breast)0.536NA14.2581524
162778449727784497GAexonicKIAA0556NAnonsynonymous SNVexonicENSG00000047578NAnonsynonymous SNVScore=259;Name=lod=15NA16p12.1NANANANArs1173160620.009384980.0278NA0.0231NA0.00310.02130.030.38T0.865P0.488P0.000D0.998D1.555L2.55T-1.113T0.017T2.60114.664.892.2545.06217.6552.6006022.600602NA0.0294190.007283NA0.022NA14.2548144
15283899252838992AGexonicORC1NAnonsynonymous SNVexonicENSG00000085840NAnonsynonymous SNVScore=458;Name=lod=97NA1p32.3Score=868;Name=V$ATF6_01NANANArs345216090.009384980.0348NA0.00860.0030.0020.02050.030.58T0.025B0.05B0.007N0.987D0N1.1T-1.081T0.022T1.37910.545.182.1628.15515.1791.3788241.3788240.020.0246510.003858NANACLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117877.2;CLNDSDB=.;CLNDSDBID=.14.2533824
9126128253126128253GCexonicCRB2NAnonsynonymous SNVexonicENSG00000148204NAnonsynonymous SNVScore=527;Name=lod=185NA9q33.3Score=781;Name=V$AHRARNT_02NANANArs11052220.3158950.37280.38890.33140.19890.32920.34350.380.65T0.762P0.509P0.000D0.000P0.885L-3.97D-1.133T0.000T2.91515.714.792.1861.27811.2652.9145382.9145380.610.3642520.206472ID=COSM455327;OCCURENCE=1(breast)0.196NA14.2527814
1161130701161130701CTexonicUSP21NAnonsynonymous SNVexonicENSG00000143258NAnonsynonymous SNVScore=692;Name=lod=864NA1q23.3NANANANArs347797220.009584660.0288NA0.01440.00150.00720.02130.0330.09T1.0D0.992D..0.974D0.345N0.84T-0.873T0.129T4.03820.75.142.6664.50317.5384.0378344.0378340.010.0304650.00749NA0.072NA14.2527684
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
1153728565372856AGexonicOR51B6NAnonsynonymous SNVexonicENSG00000176239NAnonsynonymous SNVScore=369;Name=lod=42NA11p15.4NANANANArs49107560.1507590.21470.01880.15560.22540.11660.16670.210.01D0.494P0.35B0.000D0.000P3.885H-0.94T-0.975T0.001T3.58418.264.020.9786.9099.8583.5840233.5840230.010.2122410.19741NA0.203NA14.2396924
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
12120313953120313953CTexonicCITNAnonsynonymous SNVexonicENSG00000122966NAnonsynonymous SNVScore=454;Name=lod=93NA12q24.23Score=926;Name=V$YY1_01NANANArs360549000.01118210.0368NA0.01590.00150.00610.0230.0430.01D0.041B0.034B0.027N1.000D0.805L-0.08T-0.983T0.053T3.4717.765.682.6873.81817.9743.4695083.4695080.010.0432560.009986NANANA14.2302774
12285288022852880GCexonicZBTB40NAnonsynonymous SNVexonicENSG00000184677NAnonsynonymous SNVScore=369;Name=lod=42NA1p36.12Score=966;Name=V$CEBP_01NANANArs455029980.02635780.0368NA0.01870.00150.08180.03620.040.12T0.884P0.507P0.000D0.747D0.975L2.99T-1.031T0.007T2.72615.083.740.6781.6527.6072.7262912.7262910.040.0353490.007036NA0.014NA14.2249844
68814081188140811CAexonicC6orf165NAnonsynonymous SNVexonicENSG00000213204,ENSG00000272514NAnonsynonymous SNVScore=567;Name=lod=268NA6q15NANANANArs1176494670.02176520.0427NA0.01590.00150.05420.03380.0540.69T0.042B0.026B0.000D1.000D2.075M1.52T-1.085T0.035T2.07912.915.512.5891.5229.1012.0792362.0792360.120.0369770.006128NA0.043NA14.2198564
1169132906913290AGexonicOR2D2NAnonsynonymous SNVexonicENSG00000166368NAnonsynonymous SNVScore=336;Name=lod=31NA11p15.4NANANANArs19652090.1487620.19180.13990.26370.03330.18810.2030.240D0.993D0.876P0.027N0.810P2.225M1.11T-1.113T0.000T2.79915.325.122.2913.94413.2292.7988832.7988830.020.2239290.061336NA0.167NA14.2146044
7150739054150739054GAexonicABCB8NAnonsynonymous SNVexonicENSG00000197150NAnonsynonymous SNVScore=481;Name=lod=120NA7q36.1NANANANArs561984020.02655750.04470.02080.04760.00080.03370.03710.050.3T0.115B0.106B0.000D1.000D0.065N-2.7D-0.615T0.136T1.39910.613.832.4565.41211.0241.3990631.3990630.420.0404650.007717NA0.051NA14.2110684
74501662145016621CTexonicMYO1GNAnonsynonymous SNVexonicENSG00000136286NAnonsynonymous SNVScore=529;Name=lod=189NA7p13Score=810;Name=V$TAXCREB_01NANANArs617395310.1369810.22960.09520.18590.12930.06030.18260.240.19T0.987D0.73P0.005N0.000P1.615L-2.76D-1.179T0.001T2.97215.913.932.1993.7609.7582.9717332.9717330.140.2126740.14798NA0.116NA14.2084594
985180528518052GCexonicPTPRDNAnonsynonymous SNVexonicENSG00000153707NAnonsynonymous SNVScore=475;Name=lod=114NA9p24.1NANANANArs109771710.05091850.03480.1210.05040.00150.06240.04610.13..0.991D0.993D0.000D0.000P1.16L-0.44T-1.022T0.007T0.3145.7025.312.4849.80718.9790.314073NA0.290.0447670.008171ID=COSM150577;OCCURENCE=1(stomach)0.036NA14.2076664
57936126579361265GCexonicTHBS4NAnonsynonymous SNVexonicENSG00000113296NAnonsynonymous SNVScore=361;Name=lod=39NA5q14.1NANAName=2NArs18663890.1257990.23260.05060.13110.06880.16670.17830.230.8T0.568P0.352B0.000D0.114P-1.06N-3.0D-0.903T0.000T2.53514.445.192.7112.87515.9892.5354392.5354390.010.2212790.09941NA0.203NA14.2011544
2055565125556512GAexonicGPCPD1NAnonsynonymous SNVexonicENSG00000125772NAnonsynonymous SNVScore=631;Name=lod=490NA20p12.3NANANANArs22733730.106030.03180.10220.06480.23220.0450.06120.260.19T1.0D0.963D0.000D0.000P0.975L0.71T-1.150T0.000T4.235225.622.6347.85519.6444.2347834.2347830.220.044070.209941NA0.152NA14.1962634
81171088811710888GCexonicCTSBNAnonsynonymous SNVexonicENSG00000164733NAnonsynonymous SNVScore=333;Name=lod=30NA8p23.1NAName=HDAC2_(SC-6296),FOXA1_(C-20),FOXA2_(SC-6554),USF2,CEBPB,Sin3Ak-20,Pol2,CTCF,c-Myc,FOXA1_(SC-101058),TCF4,p300,FOSL2,Rad21,USF-1Name=26NArs123380.3959660.38270.51490.39050.32980.38040.38070.50.01D0.01B0.017B0.000D0.000P3.63H-0.15T-1.005T0.000T2.15513.162.390.1921.4744.8162.1548382.1548380.030.3746510.338402NA0.355NA14.1952824
11124180282124180282ACexonicOR8D1NAnonsynonymous SNVexonicENSG00000196341NAnonsynonymous SNVNANA11q24.2Score=909;Name=V$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
145007452050074520CTexonicLRR1NAnonsynonymous SNVexonicENSG00000165501NAnonsynonymous SNVScore=451;Name=lod=91NA14q21.3Score=761;Name=V$PAX5_02NANANArs71481470.1723240.22960.02680.31560.26250.03990.19270.290.07T0.99D0.745P0.042N0.000P2.76M2.05T-1.025T0.000T4.05820.85.11.5714.63611.5754.0577464.0577460.070.2186050.255107NA0.188NA14.1924284
X132437337132437337GAexonicGPC4NAnonsynonymous SNVexonicENSG00000076716NAnonsynonymous SNVScore=513;Name=lod=162NAXq26.2Score=902;Name=V$CEBPA_01NANANArs1048369NANANANANANA0.3490.640.03D0.902P0.411B0.000N0.000P2.21M0.67T-0.913T0.000T3.83619.484.721.0526.80311.9043.8355023.8355020.030.2951840.597132NA0.319NA14.1891494
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
47687871676878716GCexonicSDAD1NAnonsynonymous SNVexonicENSG00000198301NAnonsynonymous SNVScore=468;Name=lod=106NA4q21.1Score=985;Name=V$STAT1_03NANANArs22424710.2789540.42250.07340.20890.23680.44990.3410.430.04D0.941P0.612P0.000D0.776P1.445L1.89T-1.153T0.000T3.50917.935.152.5813.97316.4833.509483.509480.060.3912790.250567NA0.399NA14.1785544
6110760008110760008AGexonicSLC22A16NAnonsynonymous SNVexonicENSG00000004809NAnonsynonymous SNVScore=284;Name=lod=19NA6q21NANANANArs122105380.09145370.2445NA0.15270.01210.0920.16790.250.07T0.959D0.783P0.000D0.000P2.14M-0.81T-0.138T0.405T3.5818.244.981.8776.10114.6673.5803253.5803250.020.243140.051067NA0.123NA14.1777934
34913881049138810TCexonicQARSNAnonsynonymous SNVexonicENSG00000172053NAnonsynonymous SNVScore=634;Name=lod=503NA3p21.31NANANANArs115391480.01637380.05960.0010.02020.00150.00510.03910.0570.65T0.054B0.172B0.000D1.000D2.41M2.01T-1.108T0.009T3.10616.384.570.9965.78011.5413.1063343.1063340.030.0572090.014072NA0.014NA14.1774244
176420828564208285CGexonicAPOHNAnonsynonymous SNVexonicENSG00000091583NAnonsynonymous SNVScore=452;Name=lod=92NA17q24.2NANANANArs18016900.03654150.05670.05460.02880.00230.04910.04880.070.49T0.999D0.954D0.010N0.000P2.3M1.96T-1.109T0.013T3.3117.135.72.6793.50615.3453.3103023.3103020.040.0512790.008625NA0.036NA14.1765544
1205031116205031116CTexonicCNTN2NAnonsynonymous SNVexonicENSG00000184144NAnonsynonymous SNVScore=529;Name=lod=188NA1q32.1Score=802;Name=V$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
61229625512296255GTexonicEDN1NAnonsynonymous SNVexonicENSG00000078401NAnonsynonymous SNVScore=381;Name=lod=47Name=Circulating vasoactive peptide levels6p24.1NAName=Pol2,CTCFName=116NArs53700.2474040.21270.28570.1470.16190.43050.23450.280.08T0.454P0.071B0.082N0.998P1.15L-1.87D-0.893T0.230T0.6927.6952.180.1160.0499.4710.691892NA0.090.2112790.196323ID=COSM150053;OCCURENCE=1(stomach)0.145CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7;CLNREVSTAT=single;CLNACC=RCV000018132.1;CLNDSDB=.;CLNDSDBID=.14.1748544
12218189522181895CTexonicHSPG2NAnonsynonymous SNVexonicENSG00000142798NAnonsynonymous SNVScore=381;Name=lod=47NA1p36.12NANANANArs22294750.03474440.0497NA0.02450.00150.10740.05360.0570.12T0.998D0.995D0.003N0.994D1.315L-0.47T-0.638T0.090T3.14716.525.122.3991.82916.0433.1468283.1468280.20.0565120.009305NA0.029NA14.1735214
182873740728737407GAexonicDSC1NAnonsynonymous SNVexonicENSG00000134765NAnonsynonymous SNVScore=300;Name=lod=22NA18q12.1NAName=KAP1,ERalpha_aName=26NArs353383950.02076680.0676NA0.04180.00080.00610.03870.070.11T0.012B0.018B0.024N0.980D2.19M1.01T-1.103T0.011T1.39410.62.80.3631.1756.5901.3944351.39443500.0605810.013618NA0.029NA14.1664524
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
2215674224215674224GAexonicBARD1NAnonsynonymous SNVexonicENSG00000138376NAnonsynonymous SNVScore=333;Name=lod=30NA2q35Score=770;Name=V$AHRARNT_02Name=EBF1_(C-8),E2F6,YY1_(C-20),PAX5-C20,Sin3Ak-20,HA-E2F1,Pol2,Pol2-4H8,ELF1_(SC-631),PAX5-N19,YY1Name=2NArs10481080.331270.39460.33130.40060.19290.40390.43770.420.22T0.002B0.005B0.000D0.000P0.41N-0.72T-1.043T0.000T2.65714.843.12.2210.9685.3152.6568412.65684100.3473880.215251ID=COSM1482743,COSM442275;OCCURENCE=2(breast)0.167NA14.1536454
1149452294945229GAexonicOR51G1NAnonsynonymous SNVexonicENSG00000176879NAnonsynonymous SNVNANA11p15.4Score=919;Name=V$AP1_Q6NANANArs108369540.07228430.06660.22020.01870.01290.0440.06390.220D1.0D0.999D0.002U1.000P2.475M2.17T-1.097T0.000T1.25310.084.22.1690.82311.3351.2530261.25302600.0529320.015448NA0.029NA14.1499014
1630732403073240GTexonicHCFC1R1NAnonsynonymous SNVexonicENSG00000103145NAnonsynonymous SNVScore=289;Name=lod=20NA16p13.3Score=803;Name=V$ARP1_01Name=Pol2(phosphoS2),Pol2,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
35279763452797634GCexonicNEK4NAnonsynonymous SNVexonicENSG00000114904NAnonsynonymous SNVScore=639;Name=lod=525NA3p21.1NAName=PRDM1_(Val90),JunD,STAT3,GATA-1,GATA-2,p300_(N-15),c-Jun,c-Fos,CEBPBName=61NArs10298710.306310.41750.42460.45530.12780.20550.37270.490.05D0.955P0.843P0.001N0.000P1.46L1.79T-0.903T0.000T4.98429.25.932.8107.52920.3424.9836854.9836850.030.4033720.151611NA0.217NA14.1397614
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
168425661984256619CTexonicKCNG4NAnonsynonymous SNVexonicENSG00000168418NAnonsynonymous SNVScore=524;Name=lod=179NA16q24.1NANANANArs177363700.09764380.06760.08330.10370.12930.09610.0770.150.14T0.124B0.052B0.000D0.000P2.74M-4.05D-0.579T0.041T1.68711.65.52.5747.81818.3911.6865491.686549NA0.0625580.101591ID=COSM1600028;OCCURENCE=2(central_nervous_system)0.123NA14.1261754
97186598871865988CTexonicTJP2NAnonsynonymous SNVexonicENSG00000119139NAnonsynonymous SNVScore=325;Name=lod=28NA9q21.11NANANANArs412779070.03933710.07850.0020.0490.00830.07260.06380.080.02D0.001B0.007B0.956N1.000D1.15L2.93T-0.993T0.003T1.86312.195.582.6282.01319.5541.863171.863170.010.0782560.022015NA0.007CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038252.1;CLNDSDB=.;CLNDSDBID=.14.1127774
154268119942681199GAexonicCAPN3NAnonsynonymous SNVexonicENSG00000092529NAnonsynonymous SNVScore=648;Name=lod=572NA15q15.1Score=862;Name=V$SREBP1_02NANANArs18014490.2701680.04770.11210.09220.74580.14520.12380.721T0.001B0.005B0.000N0.000P-0.155N-2.35D-0.964T0.000T2.53614.445.411.0827.22211.4892.535872.5358710.0496630.621198NA0.232CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078102.2;CLNDSDB=.;CLNDSDBID=.14.1121704
35855232958552329CGexonicFAM107ANAnonsynonymous SNVexonicENSG00000168309NAnonsynonymous SNVScore=278;Name=lod=18NA3p14.3NANANANArs115390860.1088260.07360.0040.10950.25790.05110.08580.240.18T0.998D0.986D0.000D0.000P1.43L1.24T-1.188T0.000T3.93205.072.5094.72718.4213.9297093.9297090.030.0660470.222878NA0.094NA14.1078864
202149418421494184CTexonicNKX2-2NAnonsynonymous SNVexonicENSG00000125820NAnonsynonymous SNVScore=583;Name=lod=313NA20p11.22Score=843;Name=V$YY1_02Name=SUZ12Name=9NArs81925620.02995210.0944NA0.04180.0030.02250.0560.080.59T0.0B0.001B0.013N0.765N-0.895N-2.71D-0.908T0.026T1.2289.9811.461.0501.3964.5561.228068NA0.360.0789530.014753NA0.014NA14.1039804
7143657427143657427CTexonicOR2F1NAnonsynonymous SNVexonicENSG00000213215NAnonsynonymous SNVScore=503;Name=lod=148NA7q35NANANANArs20721640.1144170.07060.16170.17440.09080.10020.10130.180D0.014B0.01B0.000D0.000P3.01M-1.09T-0.866T0.002T2.54214.464.531.5132.18612.1372.5424642.5424640.020.0627910.084203NA0.058NA14.0986424
1777359347735934GAexonicDNAH2NAnonsynonymous SNVexonicENSG00000183914NAnonsynonymous SNVScore=466;Name=lod=104NA17p13.1Score=789;Name=V$PPARG_03NANANArs617451810.1148160.06160.14090.24780.00380.19840.10780.190.59T0.955P0.658P0.000D0.000P1.645L3.14T-0.878T0.000T4.64225.55.412.5466.48117.9734.6423374.6423370.150.075930.022469NA0.058NA14.0880034
1176833497176833497GCexonicASTN1NAnonsynonymous SNVexonicENSG00000152092NAnonsynonymous SNVScore=621;Name=lod=445NA1q25.2Score=786;Name=V$HEN1_01NANANArs121189330.04193290.11030.03080.05760.00530.02150.06160.10.01D0.369B0.182B0.000D0.000P0.55N2.84T-0.986T0.001T3.77819.184.612.2827.03717.4153.7778083.7778080.010.0880230.016795NA0.007NA14.0734104
1247769752247769752AGexonicOR2G3NAnonsynonymous SNVexonicENSG00000177476NAnonsynonymous SNVScore=309;Name=lod=24NA1q44NANANANArs617304070.3380590.43940.43250.31270.23070.29960.39790.430.02D0.992D0.994D0.002U1.000P2.83M0.68T-0.969T0.000T2.63114.763.651.6480.98310.5912.6309142.6309140.050.4239530.2399NA0.283NA14.0720804
5150436503150436503GCexonicTNIP1NAnonsynonymous SNVexonicENSG00000145901NAnonsynonymous SNVScore=369;Name=lod=42NA5q33.1NANANANArs22332900.09524760.08250.0030.09080.21330.0470.09040.220.17T1.0D0.997D0.000N0.000P2.36M2.43T-1.135T0.000T2.74815.154.141.2096.32415.5862.748462.748460.240.0883590.180145ID=COSM330482;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)0.101NA14.0720744
214573386745733867ATexonicPFKLNAnonsynonymous SNVexonicENSG00000141959NAnonsynonymous SNVScore=520;Name=lod=173NA21q22.3Score=799;Name=V$CMYB_01NANANArs10570370.07847440.07950.00990.06770.10890.11450.09980.110.24T0.91P0.682P0.000D0.000P0.065N-1.4T-0.819T0.012T2.45914.184.641.7368.88513.0802.4588182.4588180.210.0822270.1041NA0.167NA14.0718064
1236749649236749649TCexonicHEATR1NAnonsynonymous SNVexonicENSG00000119285NAnonsynonymous SNVScore=325;Name=lod=28NA1q43Score=912;Name=V$TATA_01NANANArs27947630.369010.62230.47120.4640.03480.38750.53680.620.04D0.584P0.055B0.000D0.000P2.045M0.63T-0.940T0.000T1.50810.995.422.1804.26115.7551.5078291.5078290.010.624680.127326NA0.42NA14.0495534
3193171979193171979TAexonicATP13A4NAnonsynonymous SNVexonicENSG00000127249NAnonsynonymous SNVScore=509;Name=lod=156NA3q29NANANANArs354247090.05730830.09640.03770.07490.01660.07980.08550.110.04D0.975D0.928D0.000D0.000P2.035M-0.5T-0.752T0.017T3.9420.12.490.1720.0709.2733.9403193.9403190.030.1061630.033137NA0.029NA14.0452704
3122003769122003769AGexonicCASRNAnonsynonymous SNVexonicENSG00000036828NAnonsynonymous SNVScore=321;Name=lod=27NA3q21.1NANANANArs10426360.206470.07360.51980.19880.03030.26380.14510.550D0.319B0.051B0.000D0.015P0.805L-2.52D-0.936T0.000T1.46910.863.261.0042.91811.8671.4690711.46907100.073140.042896NA0.094NA14.0414934
1159799910159799910GAexonicSLAMF8NAnonsynonymous SNVexonicENSG00000158714NAnonsynonymous SNVScore=409;Name=lod=61NA1q23.2NANANANArs346873260.03075080.1054NA0.03890.0030.01740.080.120.06T1.0D0.998D0.000D0.000P1.04L0.65T-0.870T0.140T4.365234.442.2964.54312.4264.3652364.36523600.1226740.0202NA0.036NA14.0252594
125801549458015494GAexonicSLC26A10NAnonsynonymous SNVexonicENSG00000135502NAnonsynonymous SNVScore=435;Name=lod=78NA12q13.3NAName=CTCF,Pol2,E2F6,HMGN3Name=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
142199363821993638GCexonicSALL2NAnonsynonymous SNVexonicENSG00000165821NAnonsynonymous SNVScore=464;Name=lod=103NA14q11.2NANANANArs22425270.07348240.11530.00690.05760.1180.05010.09210.120.02D1.0D0.995D0.002N0.063P1.735L3.55T-0.988T0.004T2.61114.694.362.2962.7818.1492.6105592.61055900.1115120.111666NA0.152NA14.0144214
168998584489985844GTexonicMC1RNAnonsynonymous SNVexonicENSG00000198211,ENSG00000258839NAnonsynonymous SNVScore=410;Name=lod=62NA16q24.3NANANANArs18050050.03534350.1123NA0.0720.00530.00720.08320.13..0.988D0.951D0.004U0.008P1.275L-0.5T-0.990T0.008T2.65814.854.862.2552.42416.9752.658142.6581400.1334190.022612NA0.022CLINSIG=pathogenic;CLNDBN=Skin/hair/eye_pigmentation_2x2c_blond_hair/fair_skin;CLNREVSTAT=single;CLNACC=RCV000015384.24;CLNDSDB=.;CLNDSDBID=.14.0044144
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
68812554288125542GAexonicC6orf165NAnonsynonymous SNVexonicENSG00000213204,ENSG00000272514NAnonsynonymous SNVScore=607;Name=lod=390NA6q15NANANANArs617314410.1066290.12030.10420.07060.10510.12270.10870.120.53T1.0D0.944D0.000D0.586P1.63L1.55T-1.115T0.100T2.94915.835.62.6403.12419.2032.9493492.9493490.070.1096510.116205NA0.08NA13.9946824
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
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
55508169455081694AGexonicDDX4NAnonsynonymous SNVexonicENSG00000152670NAnonsynonymous SNVScore=445;Name=lod=86NA5q11.2Score=808;Name=V$CDPCR3_01NANANArs23051230.09944090.12520.16170.11670.02870.0920.11080.140.04D0.387B0.149B0.000D0.000P1.41L0.99T-1.051T0.001T3.0416.145.031.9053.82710.7073.0399793.0399790.030.1191860.046074NA0.058NA13.9781474
34972153249721532GAexonicMST1NAnonsynonymous SNVexonicENSG00000173531NAnonsynonymous SNVNAName=Ulcerative colitis,Primary sclerosing cholangitis,Crohn's disease,Inflammatory bowel disease3p21.31Score=761;Name=V$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
12133428242133428242GAexonicCHFRNAnonsynonymous SNVexonicENSG00000072609NAnonsynonymous SNVScore=415;Name=lod=65NA12q24.33NANANANArs23065410.2547920.27830.19250.27520.19520.36090.28030.310.36T0.983D0.743P0.000D0.000P2.08M1.39T-1.093T0.000T4.086216.082.8948.78320.6634.0859444.0859440.130.3075580.221743ID=COSM1180449,COSM1180448;OCCURENCE=1(prostate)0.348NA13.9671754
124827289548272895AGexonicVDRNAnonsynonymous SNVexonicENSG00000111424NAnonsynonymous SNVScore=425;Name=lod=71NA12q13.11Score=734;Name=V$MYOGNF1_01NANANArs22285700.6715260.62230.58230.51730.81090.73520.63760.830D0.993D0.848P0.000D0.000P..-2.88D-0.925T0.000T3.37717.392.890.9444.2989.9503.3767483.37674800.614070.78847NA0.601NA13.9593634
177351288473512884TGexonicTSEN54NAnonsynonymous SNVexonicENSG00000182173NAnonsynonymous SNVScore=579;Name=lod=302NA17q25.1Score=795;Name=V$OLF1_01NAName=16NArs80793730.1631390.14210.02980.10660.3510.10840.1370.370.1T0.997D0.918D0.003N0.017P0.805L0.45T-0.995T0.000T3.14616.522.930.7240.7007.7473.1461413.1461410.050.0989270.231002NA0.014CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000082835.1|RCV000125719.1;CLNDSDB=.|.;CLNDSDBID=.|.13.9553064
4184618936184618936GCexonicTRAPPC11NAnonsynonymous SNVexonicENSG00000168538NAnonsynonymous SNVScore=405;Name=lod=59NA4q35.1NANANANArs626177900.1379790.12620.20540.06340.03480.2730.13710.250.13T0.999D0.998D0.000D0.000P1.87L..-1.116T0.000T3.62618.454.671.4092.60911.983.626083.626080.010.1212790.048116ID=COSM149767;OCCURENCE=1(stomach)0.145NA13.9487544
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
116053134660531346TGexonicMS4A15NAnonsynonymous SNVexonicENSG00000166961NAnonsynonymous SNVScore=243;Name=lod=13NA11q12.2Score=741;Name=V$ROAZ_01Name=CTCF,ZEB1_(SC-25388),CTCF_(C-20)Name=4NArs10329390.405950.48410.6280.47690.06280.51020.45970.650.53T0.999D0.996D..0.000P0.895L2.77T-1.020T0.000T0.8898.614.080.8061.5287.9880.888974NA0.260.4583430.14261NA0.391NA13.9311904
105012210950122109CTexonicLRRC18NAnonsynonymous SNVexonicENSG00000165383NAnonsynonymous SNVScore=289;Name=lod=20NA10q11.23NANANANArs177726110.1128190.14410.0020.09510.14370.16560.1190.15..1.0D1.0D0.000D0.000P0.385N0.68T-1.107T0.001T5.265336.062.8807.67720.6405.2649295.2649290.010.1396510.141625ID=COSM1348019;OCCURENCE=1(large_intestine)0.152NA13.9305824
155400309154003091GAexonicWDR72NAnonsynonymous SNVexonicENSG00000166415NAnonsynonymous SNVScore=582;Name=lod=310NA15q21.3NANANANArs5512250.3208870.4940.20140.31560.16260.48360.41130.50.04D1.0D0.984D0.000D0.000P1.4L2.24T-0.868T0.000T4.02820.75.582.7786.34418.9194.0278194.0278190.030.5012810.216272NA0.275NA13.9267524
1825954432595443GTexonicNDC80NAnonsynonymous SNVexonicENSG00000080986NAnonsynonymous SNVScore=439;Name=lod=81NA18p11.32NANANANArs124565600.09265180.14910.09230.17580.02420.06850.13050.150.1T0.999D0.967D0.000D0.000P2.045M-0.09T-0.967T0.003T3.21216.762.80.7044.34210.3913.2123243.212324NA0.1294190.042896NA0.051NA13.9243144
88723527387235273CTexonicSLC7A13NAnonsynonymous SNVexonicENSG00000164893NAnonsynonymous SNVNANA8q21.3NANANANArs29761890.09584660.14910.01790.07490.12860.0920.11670.160D1.0D0.998D0.002N1.000P3.385M-2.89D-0.776T0.028T2.92515.752.491.0380.6987.8042.9254522.92545200.150.142533NA0.123NA13.9175334
1963122906312290TCexonicACER1NAnonsynonymous SNVexonicENSG00000167769NAnonsynonymous SNVScore=576;Name=lod=291NA19p13.3NAName=Rad21,CTCF,CTCF_(SC-5916)Name=4NArs729819710.1599440.13320.31940.13540.01130.24130.1580.380.81T0.01B0.018B0.001D0.242P0.455N1.01T-0.937T0.000T-0.5411.5432.41.8841.5883.792-0.541318NA10.1253490.036314NA0.152NA13.9167844
14100795139100795139GTexonicSLC25A47NAnonsynonymous SNVexonicENSG00000140107NAnonsynonymous SNVNANA14q32.2Score=771;Name=V$HEN1_02Name=TBP,HNF4A_(H-171),HNF4G_(SC-6558),HNF4A,HEY1,TAF1,Pol2Name=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
35811855558118555GAexonicFLNBNAnonsynonymous SNVexonicENSG00000136068NAnonsynonymous SNVScore=460;Name=lod=99NA3p14.3NAName=MafK_(ab50322)NANArs126324560.6082270.28330.96920.48130.64220.61450.39520.970.09T0.877P0.423B0.001D0.012P2.66M-2.37D-0.985T0.000T3.59218.292.750.2282.9515.5883.5922063.59220600.2452330.583976NA0.5NA13.9096004
222417992224179922GCexonicDERL3NAnonsynonymous SNVexonicENSG00000099958NAnonsynonymous SNVScore=479;Name=lod=118NA22q11.23NANANANArs31772430.1273960.14310.01590.14270.26480.02970.1350.280.05D0.329B0.246B0.000D0.000P2.29M1.54T-1.062T0.000T4.15221.55.272.6553.90818.3224.1522284.1522280.020.1589530.255107ID=COSM1130487;OCCURENCE=1(prostate)0.159NA13.8962804
5140572763140572763CGexonicPCDHB10NAnonsynonymous SNVexonicENSG00000120324NAnonsynonymous SNVScore=289;Name=lod=20NA5q31.3NANANANArs29073230.0968450.14310.09330.08790.01660.16770.14010.160D0.977D0.934D..0.230P2.55M4.1T-1.086T0.000T2.37813.913.411.930-0.5616.8312.3782342.37823400.1633720.048343NA0.065NA13.8867614
112736235927362359TGexonicCCDC34NAnonsynonymous SNVexonicENSG00000109881NAnonsynonymous SNVScore=604;Name=lod=380NA11p14.1Score=838;Name=V$TST1_01NANANArs172440280.1613420.340.07340.26370.0560.1380.26250.350.1T0.957D0.86P0.000D0.000P1.56L1.81T-0.931T0.000T2.36813.885.922.2663.87311.2242.3678072.3678070.010.3522910.108765NA0.13NA13.8785424
10115381747115381747GAexonicNRAPNAnonsynonymous SNVexonicENSG00000197893NAnonsynonymous SNVScore=439;Name=lod=81NA10q25.3NANANANArs8687380.2094650.32110.17860.44090.04460.18510.29880.40.01D0.986D0.761P0.000D0.000P0.805L1.15T-0.934T0.000T4.18721.75.081.5294.8338.3564.1874154.1874150.030.3376740.103268ID=COSM147047;OCCURENCE=1(stomach),1(large_intestine)0.239NA13.8757594
11123624658123624658GTexonicOR6X1NAnonsynonymous SNVexonicENSG00000221931NAnonsynonymous SNVScore=284;Name=lod=19NA11q24.1Score=866;Name=V$YY1_01NANANArs123640990.0774760.17990.02380.09370.02190.0910.12190.170D0.029B0.041B..0.893P2.72M8.42T-1.020T0.000T1.89412.293.461.0801.52311.5701.8944371.8944370.010.1560830.042461NA0.065NA13.8754504
4155241572155241572GAexonicDCHS2NAnonsynonymous SNVexonicENSG00000197410NAnonsynonymous SNVScore=403;Name=lod=58NA4q31.3NAName=JunDNANArs119355730.2629790.31610.35520.29970.06130.35990.31850.370.06T0.998D0.891P0.143N0.000P2.33M0.95T-1.010T0.000T4.54824.65.562.6194.28114.3844.5484894.54848900.3246510.10463ID=COSM149748;OCCURENCE=1(stomach),1(prostate)0.239NA13.8740824
101178938211789382GAexonicECHDC3NAnonsynonymous SNVexonicENSG00000134463NAnonsynonymous SNVScore=410;Name=lod=62NA10p14NAName=GRName=26NArs47500900.9135380.99710.97410.68910.9990.974410.06T0.989D0.846P0.000D0.000P3.06M0.44T-1.025T0.000T5.176325.532.5966.39118.4335.1757245.1757240.150.9979070.740581NA0.891NA13.8640264
142467987724679877CTexonicCHMP4ANAnonsynonymous SNVexonicENSG00000100926,ENSG00000254505,ENSG00000254692NAnonsynonymous SNVScore=561;Name=lod=253NA14q12NANANANArs22953220.3512380.5040.23610.61960.24890.26070.45910.620.01D0.969D0.949D0.011N0.000P3.735H-0.68T-0.911T0.000T4.367234.31.3925.52910.6954.3673274.3673270.020.5166280.279165NA0.457NA13.8536054
18690037286900372CGexonicCLCA2NAnonsynonymous SNVexonicENSG00000137975NAnonsynonymous SNVScore=300;Name=lod=22NA1p22.3NANANANArs174093040.2348240.34490.17960.32280.15130.2290.29770.350.06T0.976D0.523P0.000D0.007P2.815M3.87T-1.097T0.018T4.44523.75.212.9413.91316.0644.4454714.4454710.030.3402330.170222NA0.268NA13.8505004
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
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
1773854547385454GAexonicSLC35G6NAnonsynonymous SNVexonicENSG00000259224NAnonsynonymous SNVScore=609;Name=lod=397NA17p13.1Score=765;Name=V$MYOGNF1_01NANANArs37604220.1853040.1610.19350.23920.11650.25660.18280.250.37T0.999D0.997D..0.000P0.695N1.64T-1.035T0.000T1.67811.574.041.9592.16311.4031.6784651.6784650.570.1474760.133227NA0.072NA13.8420574
1186321242186321242CTexonicTPRNAnonsynonymous SNVexonicENSG00000047410NAnonsynonymous SNVScore=654;Name=lod=609NA1q31.1Score=771;Name=V$EVI1_01NANANArs617442670.08706070.18490.07140.1210.02340.06440.13330.20.41T0.985D0.437B0.001D0.000P1.7L1.83T-1.045T0.000T4.42223.55.752.7114.87619.5444.4217894.4217890.060.1805110.052442ID=COSM146711,COSM328079;OCCURENCE=1(stomach),1(pancreas)0.043NA13.8346224
62847855528478555ATexonicGPX6NAunknownexonicENSG00000198704NAunknownScore=478;Name=lod=117NA6p22.1Score=793;Name=V$SRF_CNANANArs350621610.03214860.05860.0030.03170.04160.02250.04590.0620.2T0.992D0.945D0.094N0.995D1.63L3.82T-0.956T0.016T2.54214.464.122.0677.53911.7402.5422532.54225300.062020.039742NA0.043NA13.83348
1144882823144882823CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=559;Name=lod=249NA1q21.1NANANANArs1698647NANANANANANA0.50.50.58T0.998D0.995D..1.000D0.805L4.69T-0.530T0.009T5.06315.762.7363.31017.4515.0604475.0604470.07NANANA0.5NA13.8333334
1144912233144912233CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=476;Name=lod=115NA1q21.1Score=735;Name=V$MYOGNF1_01NANANArs1629011NANANANANANA0.50.50.12T1.0D0.998D..1.000D0.975L4.35T-1.123T0.052T1.45710.824.620.7432.22412.2641.4569151.4569150NANANA0.5NA13.8333334
74457874044578740CGexonicNPC1L1NAnonsynonymous SNVexonicENSG00000015520NAnonsynonymous SNVNANA7p13NANANANANANANANANANANANANA0.71T0.763P0.229B0.002N1.000N1.735L-2.37D-0.463T0.515D0.255.3484.151.0942.22511.9090.249596NA0.97NANANANANA13.8333334
154001894540018945CAexonicFSIP1NAnonsynonymous SNVexonicENSG00000150667NAnonsynonymous SNVNANA15q14NANANANANANANANANANANA0.00003336NA..0.994D0.808P0.000D1.000N2.175M1.65T-1.032T0.120T1.1369.6292.70.8661.0246.5091.135829NA0.02NANANANANA13.8333
123972617939726179TCexonicKIF21ANAnonsynonymous SNVexonicENSG00000139116NAnonsynonymous SNVScore=550;Name=lod=230NA12q12NANANANArs370441394NANANANANANA0.000032970.00020.28T0.988D0.717P0.001N0.976D1.555L0.28T-0.723T0.221T2.44914.154.530.9854.89311.3322.4492592.4492590.590.0002330NANANA13.8330674
193543505935435059GAexonicZNF30NAnonsynonymous SNVexonicENSG00000168661NAnonsynonymous SNVScore=336;Name=lod=31NA19q13.11NAName=ZNF274,SETDB1Name=5NArs199540599NANANANANANA0.000057910.00050.02D0.992D0.681P..0.991N1L1.86T-1.054T0.064T3.36117.331.00.2055.8928.1383.3613233.3613230.020.0004650.000227NANANA13.8328105
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
1157580625758062TCexonicOR56B1NAnonsynonymous SNVexonicENSG00000181023NAnonsynonymous SNVScore=414;Name=lod=64NA11p15.4Score=793;Name=V$GFI1_01NANANArs73970320.7396170.8330.7480.65710.66110.79960.81710.860.01D1.0D0.999D0.000U0.000P4H6.67T-1.016T0.000T3.59118.294.781.0605.96510.2393.5914443.5914440.010.858040.677192NA0.761NA13.8251934
13323625533236255GAexonicKIAA1522NAnonsynonymous SNVexonicENSG00000162522NAnonsynonymous SNVNANA1p35.1Score=732;Name=V$PAX4_04NANANArs1163864300.001397760.004NANANA0.00310.0030.00320.04D0.956P0.301B0.000D1.000N1.7L2.53T-1.043T0.033T2.76215.23.622.2252.81412.2972.7623292.7623290.030.0032140.000241NANANA13.8231194
156388994163889941AGexonicFBXL22NAnonsynonymous SNVexonicENSG00000197361NAnonsynonymous SNVScore=448;Name=lod=88NA15q22.31NANAName=74NArs1399541230.001397760.007NANANANA0.00230.010.07T0.664P0.201B0.227N0.561D1.245L1.48T-0.974T0.044T3.08916.324.582.1792.58211.2783.0889633.0889630.060.0024420.000454NANANA13.8215914
1150808445080844TCexonicOR52E2NAnonsynonymous SNVexonicENSG00000176787NAnonsynonymous SNVNANA11p15.4Score=805;Name=V$BRN2_01NANANArs169094400.3091050.32410.38290.3530.18530.35380.33690.390.01D0.963D0.601P0.000D0.947P2.125M-0.07T-0.983T0.000T2.63314.763.611.8850.7367.0022.6329362.6329360.010.3509770.220127NA0.304NA13.8213564
1931798843179884GTexonicS1PR4NAnonsynonymous SNVexonicENSG00000125910NAnonsynonymous SNVNANA19p13.3NAName=NRSFName=6NArs37460720.007587860.0040.01880.0072NA0.01020.00730.0220.52T0.956P0.421B0.430N1.000N0.895L-1.51D-0.848T0.191T0.5767.1113.942.0531.19611.5740.576106NA0.120.0072330.000927NA0.014NA13.8148004
171947487519474875CTexonicSLC47A1NAnonsynonymous SNVexonicENSG00000142494NAnonsynonymous SNVScore=409;Name=lod=61NA17p11.2NANANANArs1116534250.002196490.007NA0.0043NA0.0010.00640.010.56T0.729P0.413B0.001D1.000D1.335L1.48T-1.124T0.049T2.50714.345.42.5392.73110.1602.5065412.5065410.170.0079070.003858NANANA13.8120264
195705899857058998CGexonicZFP28NAnonsynonymous SNVexonicENSG00000196867NAnonsynonymous SNVNANA19q13.43NAName=SMC3_(ab9263),Rad21,CTCFName=3NArs341362710.1164140.17790.06750.14410.05670.16460.1560.190.02D0.99D0.923D0.006N1.000P2.44M3.95T-1.060T0.000T2.72715.081.650.4031.4027.8272.7266922.7266920.050.1889530.078529NA0.101NA13.8104804
147779320777793207GAexonicGSTZ1NAnonsynonymous SNVexonicENSG00000100577NAnonsynonymous SNVScore=346;Name=lod=34NA14q24.3NANANANArs79750.3115020.32310.46830.21180.30110.22290.37480.480.02D0.996D0.905P0.000D0.000P..2.26T-0.898T0.000T3.54718.095.572.6147.44216.4583.5468933.5468930.040.3272090.294825NA0.326NA13.8082244
14579508445795084GAexonicMUTYHNAnonsynonymous SNVexonicENSG00000132781NAnonsynonymous SNVNANA1p34.1Score=824;Name=V$HEN1_01Name=Pol2,BAF155Name=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=Rad21,CTCFName=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
183427327934273279CGexonicFHOD3NAnonsynonymous SNVexonicENSG00000134775NAnonsynonymous SNVScore=289;Name=lod=20NA18q12.2NANANANArs617359930.09025560.21870.0010.11960.06350.06540.13580.210.05D0.994D0.97D0.006N0.000P1.78L2.01T-1.099T0.000T2.07212.884.691.3365.27111.3512.0717542.07175400.1810470.072628NA0.21NA13.7977864
193889620438896204TGexonicFAM98CNAnonsynonymous SNVexonicENSG00000130244NAnonsynonymous SNVScore=371;Name=lod=43NA19q13.2Score=841;Name=V$CREBP1_Q2NANANArs1173549530.004792330.0169NA0.00580.00080.0020.00950.0220.27T0.902P0.268B0.267N1.000D2.475M0.89T-1.050T0.062T2.25913.513.990.7382.0198.8562.2593552.25935500.0147850.002741NA0.014NA13.7921484
7151680072151680072TCexonicGALNTL5NAnonsynonymous SNVexonicENSG00000106648NAnonsynonymous SNVScore=300;Name=lod=22NA7q36.1NANANANArs69602700.8011180.84490.84030.86020.7390.75770.84140.860D1.0D0.997D0.000D0.000P2.89M0.32T-1.019T0.000T3.97820.44.652.0563.52512.3493.977563.977560.010.8558140.748071NA0.812NA13.7912194
46275849162758491GAexonicLPHN3NAnonsynonymous SNVexonicENSG00000150471NAnonsynonymous SNVScore=446;Name=lod=87NA4q13.1Score=966;Name=V$AREB6_04NANANArs351064200.005790730.01590.0010.0014NA0.01120.01180.0150.59T0.951P0.284B0.003N0.928D0.695N-0.25T-0.914T0.085T2.0412.784.981.4514.67416.0272.0404462.0404460.280.0152130.002957ID=COSM1495849,COSM1495848,COSM1495847;OCCURENCE=1(kidney)NANA13.7904204
142382949023829490CTexonicEFSNAnonsynonymous SNVexonicENSG00000100842NAnonsynonymous SNVScore=289;Name=lod=20NA14q11.2NANANANArs22318010.003594250.0109NA0.00580.00150.0010.01250.0220.16T0.773P0.428B0.001N0.550D2.045M0.21T-0.573T0.123T2.72515.074.421.4602.18512.6812.7250862.72508600.0198840.001816NA0.014NA13.7900494
1171755182171755182GAexonicMETTL13NAnonsynonymous SNVexonicENSG00000010165NAnonsynonymous SNVScore=473;Name=lod=112NA1q24.3Score=935;Name=V$TCF11_01NAName=10NArs22328190.1050320.19680.13290.11380.02120.0890.15310.210.25T0.826P0.491P0.004N0.000P1.7L1.0T-1.075T0.094T3.12116.435.362.7939.46318.0323.1205623.1205620.010.1950.046981ID=COSM146686;OCCURENCE=1(stomach)0.145NA13.7884334
63160296731602967GAexonicPRRC2ANAnonsynonymous SNVexonicENSG00000204469NAnonsynonymous SNVScore=554;Name=lod=237Name=Menopause (age at onset),Schizophrenia6p21.33NANANANArs10460890.3901760.34490.35120.36460.54310.28830.35730.530D0.957D0.513P0.005N0.042P1.1L4.66T-0.732T0.005T2.82215.45.512.8733.35416.4512.822062.8220600.3454650.509532NA0.355NA13.7856684
214522048345220483AGexonicRRP1NAnonsynonymous SNVexonicENSG00000160214NAnonsynonymous SNVScore=477;Name=lod=116NA21q22.3NANANANArs9157700.2615810.15810.22920.30120.33660.2720.21670.330D1.0D0.996D0.032N0.003P1.66L5.16T-0.793T0.000T3.50917.935.21.9641.60611.4933.5091743.5091740.330.176330.309002ID=COSM149240;OCCURENCE=1(stomach)0.239NA13.7822034
5160042903160042903GTexonicATP10BNAnonsynonymous SNVexonicENSG00000118322NAnonsynonymous SNVScore=435;Name=lod=78NA5q34NANANANArs617346650.009384980.0189NA0.01440.00150.01640.01520.023..0.989D0.902P0.000D0.995D2.015M1.88T-0.922T0.116T3.81619.380.9070.0792.2628.8413.8155993.8155990.010.0229970.004124NANANA13.7762364
171186546211865462GAexonicDNAH9NAnonsynonymous SNVexonicENSG00000007174NAnonsynonymous SNVScore=470;Name=lod=108NA17p12Score=936;Name=V$GATA2_01NANANArs19902360.1601440.19480.18150.23920.10210.12470.18410.240.04D0.35B0.35B0.000D0.000P1.265L3.09T-0.911T0.000T2.72515.074.052.6186.36613.8942.7254972.7254970.020.1788370.125965NA0.159NA13.7755964
62940797029407970TCexonicOR10C1NAnonsynonymous SNVexonicENSG00000206474NAnonsynonymous SNVScore=443;Name=lod=84NA6p22.1Score=864;Name=V$NKX3A_01NANANArs20744690.1787140.18390.2490.2450.07560.19330.190.240.07T0.997D0.995D0.002U0.000P2.05M6.65T-0.668T0.003T2.17713.243.61.6340.45512.352.1770072.177007NA0.1878460.083388NA0.152NA13.7715874
211916915519169155GCexonicC21orf91NAnonsynonymous SNVexonicENSG00000154642NAnonsynonymous SNVScore=502;Name=lod=146NA21q21.1Score=738;Name=V$PAX4_04Name=FOXA1_(SC-101058),FOXA2_(SC-6554)NANArs10479780.2605830.39960.33830.31120.04310.29550.3190.4..0.957D0.545P0.000D0.000P2.135M1.83T-0.919T0.000T3.56518.173.360.9240.8419.6083.5653983.5653980.050.3436350.070685NA0.254NA13.7710984
9116082647116082647CGexonicWDR31NAnonsynonymous SNVexonicENSG00000148225NAnonsynonymous SNVScore=540;Name=lod=209NA9q32NANANANArs413074790.1018370.18790.04560.09220.00980.20250.17030.210.73T0.946P0.67P0.000D0.000P2.56M3.4T-0.925T0.000T4.2121.95.842.7625.16216.2154.2101034.2101030.010.2089530.046074NA0.116NA13.7661804
191135879911358799GAexonicDOCK6NAnonsynonymous SNVexonicENSG00000130158NAnonsynonymous SNVScore=259;Name=lod=15NA19p13.2NANANANArs129782660.5195690.73160.53670.6340.1180.74540.64660.740.01D0.982D0.839P0.000D0.000P2.175M2.35T-1.052T0.000T3.47917.85.052.3437.19715.9013.4790273.47902700.7010170.236082NA0.435NA13.7541164
1649339394933939GCexonicPPLNAnonsynonymous SNVexonicENSG00000118898NAnonsynonymous SNVScore=417;Name=lod=66NA16p13.3NANANANArs20379120.4027560.53180.65180.47120.03030.46830.50340.661T0.994D0.977D0.000D0.000P2.14M0.9T-1.006T0.000T3.4717.765.832.7699.42820.1183.469613.469610.210.5520930.11675NA0.507NA13.7460404
63628731236287312GCexonicC6orf222NAnonsynonymous SNVexonicENSG00000189325NAnonsynonymous SNVNANA6p21.31NAName=Max,ZNF263,c-Myc,CTCFName=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
9113192279113192279ATexonicSVEP1NAnonsynonymous SNVexonicENSG00000165124NAnonsynonymous SNVScore=376;Name=lod=45NA9q31.3NANANANArs1425088350.00918530.03080.0010.00140.00150.01120.02780.0370.64T0.709P0.133B0.000D1.000D1.69L1.9T-1.093T0.013T1.1159.5484.962.2086.91813.6461.115084NA0.830.0370820.006775NA0.072NA13.7376514
111751974217519742CGexonicUSH1CNAnonsynonymous SNVexonicENSG00000006611NAnonsynonymous SNVScore=487;Name=lod=127NA11p15.1Score=693;Name=V$PPARG_02Name=SMC3_(ab9263),USF2,CEBPB,CTCF,Rad21,USF-1,MaxName=17NArs10640740.4209270.56360.30260.37180.41680.43660.48750.560.28T0.046B0.061B0.000D0.875P0N1.69T-0.959T0.000T2.83515.443.371.2180.60011.0992.8348732.8348730.060.5593990.428636NA0.507CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041279.1;CLNDSDB=.;CLNDSDBID=.13.7228344
125681465356814653GAexonicTIMELESSNAnonsynonymous SNVexonicENSG00000111602NAnonsynonymous SNVScore=436;Name=lod=79NA12q13.3NANANANArs22917390.3915730.56360.27680.37030.31240.4550.49240.560.06T1.0D0.977D0.000D0.000P1.955M2.69T-0.871T0.000T3.54118.075.42.7089.17018.3183.541193.541190.10.5565120.35429NA0.464NA13.7208214
124891965948919659TCexonicOR8S1NAnonsynonymous SNVexonicENSG00000197376NAnonsynonymous SNVScore=278;Name=lod=18NA12q13.11NANANANArs40752580.5782750.51390.69050.65990.48490.59710.57440.710D1.0D0.992D0.006N0.000P3.885H7.41T-1.097T0.000T3.83119.465.032.1054.30212.7623.8313713.83137100.530930.495461NA0.246NA13.7141034
104405290344052903ACexonicZNF239NAnonsynonymous SNVexonicENSG00000196793NAnonsynonymous SNVScore=284;Name=lod=19NA10q11.21NAName=SETDB1NANArs22306610.5449280.53080.55060.5130.49170.64830.55730.580.01D0.998D0.991D..0.157P3.895H-0.97T-0.961T0.000T1.9212.382.880.9004.4527.2811.9200411.9200410.030.5345810.532512NA0.543NA13.7106524
125588648955886489TAexonicOR6C68NAnonsynonymous SNVexonicENSG00000205327NAnonsynonymous SNVScore=278;Name=lod=18NA12q13.2NANANANArs73047530.2637780.19180.49310.19450.21560.21570.22310.490D0.999D0.964D0.000D0.965P1.1L5.65T-0.823T0.000T2.58414.64.772.1380.02614.4462.5835922.5835920.010.2086050.218339NA0.29NA13.7098284
35059709250597092GAexonicC3orf18NAnonsynonymous SNVexonicENSG00000088543NAnonsynonymous SNVScore=482;Name=lod=121NA3p21.31Score=864;Name=V$NGFIC_01NANANArs10344050.8326680.88470.93650.84150.64450.92020.87530.920D1.0D0.998D0.000D0.000P0.695N1.05T-1.053T0.000T4.91828.45.062.3626.26216.2174.9176914.91769100.8712490.693166NA0.71NA13.7020844
2228758554228758554ATexonicDAW1NAnonsynonymous SNVexonicENSG00000123977NAnonsynonymous SNVScore=471;Name=lod=109NA2q36.3Score=782;Name=V$ER_Q6NANANArs17158280.1389780.24250.0050.1340.14520.16560.18330.250.19T0.646P0.497P0.000D0.000P0.945L1.6T-1.139T0.000T4.46223.85.742.1748.19414.8644.4622884.46228800.2065120.159782NA0.138NA13.7010214
51381177513811775TCexonicDNAH5NAnonsynonymous SNVexonicENSG00000039139NAnonsynonymous SNVScore=414;Name=lod=64NA5p15.2NANANANArs100783910.2621810.21470.55850.17580.18840.16670.21490.510.02D0.389B0.194B0.000D0.000P2.65M1.79T-0.922T0.000T2.7315.095.782.2047.97716.1192.7303162.7303160.010.2047670.201543NA0.261NA13.6989664
116307231063072310CTexonicSLC22A10NAnonsynonymous SNVexonicENSG00000184999NAnonsynonymous SNVScore=278;Name=lod=18NA11q12.3NANANANArs12015590.4378990.55860.47020.50430.27690.45090.5190.60.01D1.0D0.999D0.000U0.000P3.81H-1.25T-0.947T0.000T3.31617.152.731.5664.19611.3653.3164353.31643500.5682260.294256NA0.449NA13.6875074
114828625648286256CTexonicOR4X1NAnonsynonymous SNVexonicENSG00000176567NAnonsynonymous SNVScore=346;Name=lod=34NA11p11.2NANANANArs108388520.3841850.56960.38290.58070.16410.35280.51230.580D1.0D0.999D..0.727P4.2H-0.04T-0.899T0.000T2.28413.594.292.3684.35114.6162.2838382.2838380.010.5664260.217856NA0.341NA13.6850074
223089129430891294GCexonicSEC14L4NAnonsynonymous SNVexonicENSG00000133488NAnonsynonymous SNVScore=355;Name=lod=37NA22q12.2Score=985;Name=V$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
11121000774121000774TCexonicTECTANAnonsynonymous SNVexonicENSG00000109927NAnonsynonymous SNVScore=422;Name=lod=69NA11q23.3NAName=Pol2-4H8Name=3NArs5208050.2156550.22860.23810.22050.20350.19220.21410.290.53T0.003B0.003B0.000N0.223P1.135L-0.99T-1.075T0.000T0.0134.0834.651.0262.88511.7070.01333NA0.750.2103980.174989NA0.196CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038487.1;CLNDSDB=.;CLNDSDBID=.13.6802354
211094292310942923GAexonicTPTENAnonsynonymous SNVexonicENSG00000166157NAnonsynonymous SNVScore=518;Name=lod=170NA21p11.1NANANANArs76723236NANANANANANA0.15840.0870.01D0.976D0.707P0.000U1.000N0.345N-4.39D0.230D0.774D1.119.529-0.258-0.0700.5024.2951.110372NA0.01NANANA0.101NA13.6749334
2223559089223559089TCexonicMOGAT1NAnonsynonymous SNVexonicENSG00000124003NAnonsynonymous SNVScore=361;Name=lod=39NA2q36.1Score=852;Name=V$IRF7_01NANANArs18680240.2298320.23360.11610.23490.36540.15640.21350.340.37T0.022B0.104B0.000D0.000P1.025L-2.93D-1.104T0.000T-1.2470.0522.961.0492.6517.694-1.247371NA0.410.2183910.343432NA0.232NA13.6678424
116089323560893235CTexonicCD5NAnonsynonymous SNVexonicENSG00000110448NAnonsynonymous SNVScore=423;Name=lod=70NA11q12.2NANANANArs22291770.6910940.55170.98810.66280.50830.79550.61050.990.01D1.0D0.952D0.000D0.010P1.04L1.49T-1.050T0.000T4.12921.35.012.3134.53416.4824.1293684.12936800.5033730.530413ID=COSM1355182;OCCURENCE=1(large_intestine)0.681NA13.6677604
112006567320065673GTexonicNAV2NAnonsynonymous SNVexonicENSG00000166833NAnonsynonymous SNVScore=409;Name=lod=61NA11p15.1NANANANArs38027990.2703670.22270.45040.27090.02420.46630.25050.49..0.999D0.993D0.000D0.000P0.695N1.68T-0.921T0.000T2.42114.054.51.1692.66410.7972.4206412.4206410.640.1956980.054017NA0.13NA13.6644354
5118513876118513876GAexonicDMXL1NAnonsynonymous SNVexonicENSG00000172869NAnonsynonymous SNVScore=596;Name=lod=352NA5q23.1NANANANArs794607590.03015180.06060.01090.03170.00380.05320.04960.0610.63T0.629P0.109B0.000D1.000D1.21L2.95T-0.956T0.003T1.63811.435.722.7175.87619.8961.6379331.6379330.520.0606980.012262NA0.022NA13.6624354
1236413230236413230TAexonicERO1LBNAnonsynonymous SNVexonicENSG00000086619NAnonsynonymous SNVScore=369;Name=lod=42NA1q42.3Score=694;Name=V$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
7100371473100371473CTexonicZANNAunknownexonicENSG00000146839NAnonsynonymous SNVScore=259;Name=lod=15NA7q22.1NANANANArs3142990.2370210.50990.03270.27520.12930.28530.51460.250.04D1.0D0.947D0.570N0.991P2.34M2.42T0.189D0.621D2.97815.932.640.5500.3059.9252.9783482.978348NANANAID=COSM1446677,COSM1446675,COSM1446676;OCCURENCE=1(large_intestine)0.312NA13.6421667
9138516119138516119GAexonicGLT6D1NAnonsynonymous SNVexonicENSG00000204007NAnonsynonymous SNVScore=284;Name=lod=19NA9q34.3NANANANArs170403440.03494410.0656NA0.03890.01660.06130.06210.0750.1T0.997D0.878P0.010N0.997N2.395M4.89T-1.040T0.001T2.03112.752.61.0722.3169.3952.0306042.0306040.010.0749760.026042NA0.036NA13.6306574
118790850287908502GAexonicRAB38NAsynonymous SNVexonicENSG00000123892NAsynonymous SNVScore=706;Name=lod=988NA11q14.2NAName=PAX5-C20,Pol2,Pol2-4H8,TAF1,ZNF263Name=68NArs360744020.005790730.0139NA0.01150.00080.00610.010.02........1.000D....-0.669T0.183T1.611.314.191.3782.52113.7121.6001271.600127NA0.0134920.002272NA0.007NA13.6292746
91882995218829952AGexonicADAMTSL1NAnonsynonymous SNVexonicENSG00000178031NAnonsynonymous SNVScore=557;Name=lod=245NA9p22.1Score=887;Name=V$STAT5A_01Name=p300Name=39NArs413047550.1094250.24650.01390.20030.01290.13290.21620.250.29T0.201B0.089B0.039N0.000P1.24L-0.24T-1.076T0.000T1.82212.054.482.2252.5086.0981.8221791.8221790.110.2424460.042579NA0.08NA13.6281874
1223954080223954080ACexonicCAPN2NAnonsynonymous SNVexonicENSG00000162909NAnonsynonymous SNVScore=439;Name=lod=81NA1q41NANANANArs175990.2072680.24250.26980.24930.09830.22390.22760.250.04D0.022B0.083B0.000D0.000P2.385M1.43T-1.077T0.000T3.13316.475.472.0697.15815.5473.1325643.1325640.010.2446510.125738ID=COSM146791;OCCURENCE=1(stomach)0.152NA13.6185824
18617394386173943CTexonicZNHIT6NAnonsynonymous SNVexonicENSG00000117174NAnonsynonymous SNVNANA1p22.3NAName=ZNF263,KAP1,Mxi1_(bHLH),Max,Pol2-4H8,Pol2,Sin3Ak-20,Pol2(b)Name=148NArs173997210.02476040.0755NA0.04470.00610.00920.05910.0820.01D0.906P0.276B0.765N1.000N0.695N0.92T-1.089T0.046T2.53814.453.812.4383.94011.4952.5381242.5381240.050.0817440.017703NA0.007NA13.6169894
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
9131019738131019738TCexonicGOLGA2NAnonsynonymous SNVexonicENSG00000167110NAnonsynonymous SNVScore=333;Name=lod=30NA9q34.11NANANANArs22409610.1637380.05860.19540.14120.23680.15640.10580.240.01D0.983D0.79P0.000D0.359P1.7L1.69T-1.076T0.000T3.57218.23.620.6473.76211.4253.5718333.57183300.0561630.228098NA0.065NA13.6127704
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
1153733115373311TCexonicOR51B6NAnonsynonymous SNVexonicENSG00000176239NAnonsynonymous SNVScore=441;Name=lod=83NA11p15.4NANANANArs50068830.2340260.26440.08630.23490.32750.2280.23930.330.16T1.0D0.999D0.000D0.000P1.42L9.02T-0.902T0.000T2.67814.915.152.157-1.1085.3612.6775032.6775030.190.2246920.221036NA0.203NA13.6049414
6166780349166780349GTexonicMPC1NAunknownexonicENSG00000060762NAnonsynonymous SNVScore=620;Name=lod=442NA6q27Score=885;Name=V$NFKB_CNANAScore=52;Name=2136182_0_-_52rs115570640.007787540.0179NA0.02450.00230.0010.01670.031T0.006B0.058B0.000N1.000D-0.63N-1.19T-0.888T0.098T1.76411.865.842.7548.72417.6361.7637271.7637270.70.0293020.004993NA0.014NA13.6027647
12133357412133357412TCexonicGOLGA3NAnonsynonymous SNVexonicENSG00000090615NAnonsynonymous SNVScore=333;Name=lod=30NA12q24.33NANANANArs22912600.3067090.21870.28770.24930.33280.42230.26870.360.2T1.0D0.999D0.000D0.000P1.7L1.48T-0.985T0.000T3.01216.055.612.1233.10315.4493.011943.011940.20.2436050.329551ID=COSM1128641;OCCURENCE=1(prostate)0.319NA13.6023284
9138440554138440554GCexonicOBP2ANAnonsynonymous SNVexonicENSG00000122136NAnonsynonymous SNVScore=243;Name=lod=13NA9q34.3NANANANArs556958580.1735220.25250.15670.13690.12860.19630.22020.260.16T0.999D0.998D..0.999P2.645M3.14T-1.046T0.000T2.68614.942.491.7111.1498.6552.6859172.6859170.390.2645350.150023NA0.174NA13.5960984
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
79503477595034775GCexonicPON2NAnonsynonymous SNVexonicENSG00000105854NAnonsynonymous SNVScore=517;Name=lod=169NA7q21.3NANANANArs74930.2833470.24850.18850.23340.33210.38650.2710.360.04D0.013B0.008B0.000D0.001P..0.69T-0.995T0.000T1.92112.383.71.3039.11812.9951.9209481.9209480.040.2280230.283704NA0.246CLINSIG=non-pathogenic;CLNDBN=PARAOXONASE_2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000007500.1;CLNDSDB=.;CLNDSDBID=.13.5858104
73079533130795331AGexonicINMTNAnonsynonymous SNVexonicENSG00000241644NAnonsynonymous SNVScore=376;Name=lod=45NA7p14.3NAName=NRSF,CTCF,p300NANArs23023400.3292730.42940.54760.50860.0590.23930.4040.550.07T0.969D0.847P0.002N0.015P2.24M2.77T-0.926T0.000T3.19116.683.671.6353.45210.6013.1907173.1907170.110.415930.125511ID=COSM150255;OCCURENCE=1(stomach)0.261NA13.5840034
121015096110150961GAexonicCLEC1BNAnonsynonymous SNVexonicENSG00000165682NAnonsynonymous SNVNANA12p13.2Score=815;Name=V$PAX2_01NANANArs22739870.08985620.08650.17060.05040.05220.0890.08380.20.16T0.989D0.817P0.092N0.000P2.35M4.81T-0.891T0.000T2.32813.744.371.9684.54612.3952.3283522.3283520.030.0810970.050428ID=COSM147432;OCCURENCE=1(stomach)0.058NA13.5819364
5147286054147286054GAexonicC5orf46NAnonsynonymous SNVexonicENSG00000178776NAnonsynonymous SNVScore=355;Name=lod=37NA5q32NAName=JunD,TBP,STAT3,c-Jun,GATA3_(SC-268),CEBPBName=78NArs22501450.481030.61630.6190.47410.18460.60530.560.63..1.0D0.998D0.001N0.379P..0.37T-0.835T0.000T3.25916.934.882.7214.18613.7503.2592313.25923100.5848840.22719NA0.391NA13.5721494
143181904731819047CTexonicHEATR5ANAnonsynonymous SNVexonicENSG00000129493NAnonsynonymous SNVScore=613;Name=lod=412NA14q12NANANANArs37369180.8051120.95130.78970.75220.66040.90390.88210.950.02D1.0D0.999D0.000D0.000P2.56M3.21T-1.076T0.000T4.793275.482.5877.38419.3594.7932624.7932620.020.9300630.696381NA0.79NA13.5698704
1153735625373562CAexonicOR51B6NAnonsynonymous SNVexonicENSG00000176239NAnonsynonymous SNVScore=346;Name=lod=34NA11p15.4NANANANArs50240420.2324280.26440.08630.23490.3260.22190.23810.320.01D1.0D1.0D0.000D0.000P3.145M8.4T-0.919T0.000T2.7315.092.30.347-0.3989.0582.7304242.7304240.030.2641380.292367NA0.239NA13.5666954
13818572338185723CTexonicEPHA10NAnonsynonymous SNVexonicENSG00000183317NAnonsynonymous SNVScore=472;Name=lod=111NA1p34.3NANANANArs66705990.04472840.10830.02780.04470.01740.03370.0660.10D0.985D0.566P0.004N0.000P0.54N0.02T-0.958T0.006T4.2822.44.662.3124.8907.1304.2801864.28018600.0925880.031264NA0.109NA13.5664454
1153730065373006TCexonicOR51B6NAnonsynonymous SNVexonicENSG00000176239NAnonsynonymous SNVScore=265;Name=lod=16NA11p15.4NANANANArs74831220.2340260.26440.08630.23490.32750.2280.23960.330.02D0.447B0.178B0.000D0.000P3.9H6.27T-1.046T0.000T2.19213.295.012.1034.77413.6842.1919542.1919540.010.2639050.294866NA0.239NA13.5654284
10102295836102295836CGexonicHIF1ANNAnonsynonymous SNVexonicENSG00000166135NAnonsynonymous SNVScore=522;Name=lod=176NA10q24.31NAName=YY1_(C-20),HEY1,TAF1,Pol2,Pol2-4H8,Sin3Ak-20,Pol2(phosphoS2),YY1,NFKB,GATA-1,ELK4Name=6NArs22957780.1807110.26940.2530.21470.01820.21060.25390.270.15T0.002B0.0B0.000D0.003P1.04L-0.48T-1.102T0.000T1.49710.954.132.6462.86115.7621.4968671.4968670.410.2563110.049749ID=COSM426936;OCCURENCE=1(breast)0.152NA13.5537224
164826577748265777CTexonicABCC11NAnonsynonymous SNVexonicENSG00000121270NAnonsynonymous SNVScore=265;Name=lod=16NA16q12.1NAName=STAT1,CTCFName=107NArs169459880.1100240.10140.01880.08930.24580.0440.09340.230.13T0.825P0.121B0.002N1.000P0N-2.8D-1.031T0.000T1.410.624.110.8272.2189.2101.4002851.40028500.0862790.209318NA0.152NA13.5522544
1232568041232568041GAexonicSIPA1L2NAnonsynonymous SNVexonicENSG00000116991NAnonsynonymous SNVScore=460;Name=lod=99NA1q42.2NANANANArs15477420.06210060.09940.03970.13110.01290.06440.08950.130.01D0.991D0.452P0.171N0.071P1.61L2.66T-0.860T0.007T3.20716.745.011.5154.53014.9543.2068723.2068720.010.0971480.030507ID=COSM1340113;OCCURENCE=1(large_intestine)0.065NA13.5472854
194986905149869051TGexonicDKKL1NAnonsynonymous SNVexonicENSG00000104901NAnonsynonymous SNVScore=321;Name=lod=27Name=Multiple sclerosis19q13.33Score=786;Name=V$MYOGNF1_01NANANArs23037590.3182910.23960.33730.24640.2920.46630.29470.370.01D0.378B0.101B0.195N0.000P0N2.73T-0.940T0.000T1.50410.984.351.9803.67110.1281.5041131.50411300.2648840.287335NA0.341NA13.5341494
9107267304107267304CTexonicOR13F1NAnonsynonymous SNVexonicENSG00000186881NAnonsynonymous SNVScore=346;Name=lod=34NA9q31.1NANANANArs70308200.5303510.61730.42960.58210.54240.49180.57710.620.02D0.999D0.947D0.003N0.991P2.995M8.27T-1.171T0.000T2.95715.863.411.4151.92910.5962.9569842.9569840.010.6048840.523377NA0.551NA13.5340494
93571200335712003GAexonicTLN1NAnonsynonymous SNVexonicENSG00000137076NAnonsynonymous SNVScore=615;Name=lod=420NA9p13.3Score=916;Name=V$AP1FJ_Q2Name=AP-2gamma,c-Myc,ERalpha_aName=14NArs22957950.2014780.27040.33830.2680.01970.18810.24980.370.25T0.002B0.001B0.010N0.000P1.7L2.71T-0.915T0.000T2.999164.921.4667.69516.3892.9993362.9993360.20.280.06355NA0.188NA13.5331334
5134364518134364518CGexonicPITX1NAnonsynonymous SNVexonicENSG00000069011NAnonsynonymous SNVScore=765;Name=lod=1710NA5q31.1NAName=SUZ12,Max,USF-1Name=21NArs4796320.3198880.27040.47620.32710.13390.4560.30010.490.69T0.147B0.06B0.001N0.000P-0.405N-2.45D-1.046T0.000T1.48310.94.321.9547.42315.7941.4826221.48262210.2479070.15547NA0.116NA13.5149264
57241926772419267TCexonicTMEM171NAnonsynonymous SNVexonicENSG00000157111NAnonsynonymous SNVScore=412;Name=lod=63NA5q13.2NANAName=4NArs6383330.168930.28830.09620.34580.08550.10840.24960.340.02D0.087B0.027B0.000N0.004P2.32M1.38T-1.029T0.000T4.25722.25.091.9225.39814.8704.2572714.25727100.2833720.116205NA0.123NA13.5120614
109544127295441272GAexonicFRA10AC1NAnonsynonymous SNVexonicENSG00000148690NAnonsynonymous SNVScore=403;Name=lod=58NA10q23.33Score=851;Name=V$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
2179558366179558366TCexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=482;Name=lod=121NA2q31.2Score=762;Name=V$HTF_01NANANArs20429950.4778350.24550.56850.41930.58770.51640.35360.580D......0.000P-1.095N0.18T-1.002T0.000T-0.730.8775.851.4981.1409.311-0.730053NA10.2285930.558873NA0.428CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040122.2|RCV000125754.1;CLNDSDB=.|.;CLNDSDBID=.|.13.5056404
116295122162951221CGexonicSLC22A25NAnonsynonymous SNVexonicENSG00000196600NAstoplossScore=251;Name=lod=14NA11q12.3NANANANArs112313970.4203270.39460.53170.44380.26170.52970.40660.580.03D0.996D0.944D0.060N0.007P2.955M0.27T-0.931T0.000T-0.5311.583-3.87-1.156-0.6573.297-0.531111NA0.030.3768910.296683NA0.399NA13.4885757
26317613963176139ACexonicEHBP1NAnonsynonymous SNVexonicENSG00000115504NAnonsynonymous SNVScore=265;Name=lod=16NA2p15NANANANArs174326150.06130190.10830.03470.07640.02190.08280.1060.130.39T0.977D0.854P0.000D0.315P1.845L-0.88T-0.987T0.010T3.47817.86.032.3086.17916.5583.4784743.4784740.020.1331710.03951NA0.152NA13.4858624
1717035431703543GCexonicSMYD4NAnonsynonymous SNVexonicENSG00000186532NAnonsynonymous SNVNANA17p13.3Score=879;Name=V$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
2173339808173339808GAexonicITGA6NAnonsynonymous SNVexonicENSG00000091409NAnonsynonymous SNVScore=655;Name=lod=615NA2q31.1Score=731;Name=V$MEF2_04NANANArs118955640.2515970.27930.09330.22480.32530.30570.2810.34..0.858P0.834P0.000D0.000P1.775L-0.7T-1.136T0.000T4.06920.94.461.2253.12013.3514.0689034.0689030.110.2976740.34158NA0.355NA13.4753594
63483185634831856TCexonicUHRF1BP1NAnonsynonymous SNVexonicENSG00000065060NAnonsynonymous SNVScore=481;Name=lod=120NA6p21.31NANANANArs132052100.143770.13520.13390.10810.21330.09410.11380.220D0.835P0.42B0.000D0.000P0.55N2.24T-1.091T0.021T4.16621.56.042.3176.83315.1474.1656054.16560500.1111910.193244NA0.174NA13.4731424
963289476328947TCexonicTPD52L3NAnonsynonymous SNVexonicENSG00000170777NAnonsynonymous SNVScore=391;Name=lod=52NA9p24.1NANANANArs38472620.9225240.96620.9990.93950.78210.97650.949910.05D0.999D0.991D0.000D0.000P2.67M1.11T-1.088T0.000T4.31622.64.412.0063.69110.2224.3161414.3161410.050.9467440.824557NA0.804NA13.4704894
125278892852788928GAexonicKRT82NAnonsynonymous SNVexonicENSG00000161850NAnonsynonymous SNVNANA12q13.13Score=840;Name=V$AHRARNT_01NANANArs26586580.3386580.47020.06450.37460.33740.46220.42210.480.01D0.999D0.854P0.022N1.000P0N-1.64D-0.973T0.000T1.34510.423.841.1372.0177.9321.3447571.3447570.030.4773260.364049NA0.391NA13.4637074
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
128076580080765800AGexonicOTOGLNAnonsynonymous SNVexonicENSG00000165899NAnonsynonymous SNVScore=445;Name=lod=86NA12q21.31NANANANArs15511220.4840260.64610.70240.47980.10510.60740.58930.680.34T0.995D0.91D0.000D0.000P2.14M2.38T-0.987T0.000T3.78919.245.982.2895.33116.1433.7890853.7890850.120.640730.215161NA0.522NA13.4572034
214998991499899CTexonicTPONAsynonymous SNVexonicENSG00000115705NAsynonymous SNVNANA2p25.3Score=839;Name=V$NFKB_Q6Name=AP-2gammaName=7NArs7326080.4388980.40160.40870.42650.43490.52250.41090.460D....0.000D0.000P..-0.65T-0.999T0.000T-1.380.025-5.71-1.146-1.5592.751-1.379854NANA0.3984880.441443ID=COSM1685440;OCCURENCE=1(skin)0.406NA13.4556786
1981685458168545CTexonicFBN3NAnonsynonymous SNVexonicENSG00000142449NAnonsynonymous SNVScore=648;Name=lod=576NA19p13.2NANANANArs339678150.137780.29520.04760.18880.05070.15030.24710.340.36T1.0D0.999D0.000U0.000P0.955L-2.88D-1.232T0.000T3.61118.383.611.7245.47515.6063.6109163.6109160.020.3372090.085565NA0.174NA13.4538244
87297770372977703CTexonicTRPA1NAnonsynonymous SNVexonicENSG00000104321NAnonsynonymous SNVScore=410;Name=lod=62NA8q13.3NANANANArs9208290.199880.12720.28470.07930.2950.14420.14430.320.27T0.994D0.739P0.000D0.000P1.64L-0.33T-1.158T0.000T4.86927.95.392.6896.71819.5244.8691044.8691040.070.1090040.277702NA0.181NA13.4528294
26860794768607947GTexonicPLEKNAnonsynonymous SNVexonicENSG00000115956NAnonsynonymous SNVScore=645;Name=lod=555NA2p13.3NANANANArs38162810.4271170.27040.68850.4150.29580.50510.35370.670.46T0.999D0.947D0.000D0.000P0.565N2.73T-1.123T0.000T3.32917.24.01.4692.1729.8953.3288373.3288370.410.2570930.288243NA0.333NA13.4521404
14619537546195375TCexonicIPPNAnonsynonymous SNVexonicENSG00000197429NAnonsynonymous SNVScore=669;Name=lod=695NA1p34.1Score=837;Name=V$OCT1_01NANANArs283754690.3148960.28330.31350.34730.25040.41310.3040.360.04D0.006B0.005B0.000D0.000P0N-0.63T-1.089T0.000T3.12216.435.812.2267.62316.1673.1219183.1219180.190.2960470.246936ID=COSM146501;OCCURENCE=1(stomach)0.399NA13.4499864
36923006169230061GAexonicFRMD4BNAnonsynonymous SNVexonicENSG00000114541NAnonsynonymous SNVScore=462;Name=lod=101NA3p14.1NANANANArs98315160.7703670.99010.64190.88470.60820.81490.90320.990.28T1.0D0.994D0.000D0.000P2.135M-2.17D-0.908T0.000T3.17716.635.832.7579.47620.1143.1769093.1769090.570.992780.651515NA0.833NA13.4472534
1984868848486884GAexonicMARCH2NAnonsynonymous SNVexonicENSG00000099785NAnonsynonymous SNVScore=445;Name=lod=86NA19p13.2NAName=Pol2Name=4NArs11338930.1988820.29220.23810.27230.03480.23210.27430.330.58T0.297B0.172B0.000D0.000P1.645L2.46T-0.921T0.000T2.69714.984.61.3624.15614.7242.6965072.6965070.520.3339530.095325ID=COSM440684;OCCURENCE=1(breast)0.319NA13.4328804
224572837045728370GAexonicFAM118ANAnonsynonymous SNVexonicENSG00000100376NAnonsynonymous SNVScore=265;Name=lod=16NA22q13.31NANANANArs60075940.5255590.27240.52180.39050.84110.45910.36020.830.11T0.999D0.934D0.000D0.000P0.755N1.58T-1.110T0.000T3.98120.45.82.7435.76912.9483.9814253.9814250.20.2710470.743078ID=COSM149314;OCCURENCE=1(stomach)0.5NA13.4296864
72519475325194753CTexonicC7orf31NAnonsynonymous SNVexonicENSG00000153790NAnonsynonymous SNVScore=346;Name=lod=34NA7p15.3NANANANArs125353480.281350.48910.15670.39190.04840.43250.4160.50.08T0.992D0.752P0.001D0.343P2.095M2.98T-0.897T0.000T2.85115.54.581.2931.73411.8432.8509172.8509170.120.4991860.11507ID=COSM150253;OCCURENCE=1(stomach),1(large_intestine)0.355NA13.4290474
11122646967122646967GAexonicUBASH3BNAnonsynonymous SNVexonicENSG00000154127NAnonsynonymous SNVScore=613;Name=lod=415NA11q24.1Score=788;Name=V$ARNT_02NANANArs127906130.1956870.31110.17260.30690.03250.24230.27270.320.44T0.875P0.665P0.000D0.000P1.855L1.94T-0.929T0.000T3.4817.814.231.1766.09213.6403.4800553.4800550.090.320540.085377ID=COSM147340;OCCURENCE=1(stomach)0.232NA13.4289934
3130284284130284284GAexonicCOL6A6NAnonsynonymous SNVexonicENSG00000206384NAnonsynonymous SNVScore=289;Name=lod=20NA3q22.1NAName=CTCFNANArs98302530.518970.82210.44350.75220.13540.6380.74240.840.26T0.998D0.886P0.001D0.026P2.575M-1.36T-0.903T0.000T2.84615.484.082.4923.2648.0372.8457622.8457620.10.8444710.292195NA0.536NA13.4243624
125316594053165940CTexonicKRT76NAnonsynonymous SNVexonicENSG00000185069NAnonsynonymous SNVScore=475;Name=lod=114NA12q13.13NANANANArs65809040.6008390.84990.55160.68010.45760.53270.73060.860.03D0.986D0.771P0.000D0.012P2.05M-2.25D-0.925T0.000T2.37113.894.422.3980.64714.7032.3709052.3709050.110.829070.468679ID=COSM1179681;OCCURENCE=1(liver),1(prostate)0.739NA13.4237634
148840788888407888AGexonicGALCNAnonsynonymous SNVexonicENSG00000054983NAnonsynonymous SNVNANA14q31.3NANANANArs3986070.4474840.48810.23120.3790.64520.410.44060.610.03D0.656P0.345B0.002N0.992P1.905M-3.33D-1.005T0.000T3.95120.25.732.1959.27016.0263.9509393.9509390.040.4812820.614208NA0.428CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078194.1;CLNDSDB=.;CLNDSDBID=.13.4233514
6117086378117086378CAexonicFAM162BNAnonsynonymous SNVexonicENSG00000183807NAnonsynonymous SNVNAName=Telomere length6q22.1NANAName=32NArs6541280.08566290.14910.06550.11820.07870.02760.11760.160.11T0.971D0.75P0.025N1.000P1.265L1.48T-1.046T0.038T1.50610.99-7.29-1.544-2.28211.3141.5059721.5059720.070.1582520.093909NA0.116NA13.4083814
191519863115198631ACexonicOR1I1NAnonsynonymous SNVexonicENSG00000094661NAnonsynonymous SNVScore=374;Name=lod=44NA19p13.12Score=830;Name=V$GR_Q6NANANArs81057370.4908150.6590.38490.55330.3540.56750.60640.670.02D0.999D0.979D0.012U0.630P3.785H1.02T-0.911T0.000T1.31910.323.590.8091.2748.4901.3185841.31858400.6743020.391966NA0.5NA13.3936314
191901786219017862GAexonicCOPENAnonsynonymous SNVexonicENSG00000105669NAnonsynonymous SNVScore=573;Name=lod=285NA19p13.11Score=838;Name=V$MRF2_01NANANArs103300.2078670.13320.07540.12390.4130.20350.19060.390.27T0.564P0.14B0.000D0.000P1.79L2.33T-0.928T0.000T2.45514.174.762.1905.20716.3462.4550552.4550550.210.1167710.357629NA0.246NA13.3927624
34195285241952852TCexonicULK4NAnonsynonymous SNVexonicENSG00000168038NAnonsynonymous SNVScore=358;Name=lod=38NA3p22.1NANANANArs352639170.08406550.1660.0020.09080.06350.10740.12440.180.03D0.917P0.437B0.275N0.000P2.175M0.42T-1.026T0.001T4.16421.55.221.9795.41114.1264.164154.164150.010.150220.077154NA0.13NA13.3927134
4187630590187630590GAexonicFAT1NAnonsynonymous SNVexonicENSG00000083857NAnonsynonymous SNVScore=376;Name=lod=45NA4q35.2NANANANArs37334150.2613820.13020.27680.12390.39940.29140.17980.370.01D0.904P0.273B0.001N0.003P2.425M0.21T-1.016T0.000T2.56314.535.22.7046.18218.5052.5632442.5632440.010.1388430.338811NA0.333NA13.3844904
121458730114587301AGexonicATF7IPNAnonsynonymous SNVexonicENSG00000171681NAnonsynonymous SNVScore=428;Name=lod=73Name=Prostate-specific antigen levels12p13.1NANANANArs32137640.4394970.4960.61810.36740.28520.45710.47140.620.05D0.988D0.831P0.044N0.027P1.7L2.03T-0.964T0.000T3.83219.464.431.9352.12610.6343.8324583.83245800.4865120.297322ID=COSM1128636;OCCURENCE=1(prostate)0.457NA13.3794214
35730368457303684AGexonicAPPL1NAnonsynonymous SNVexonicENSG00000157500NAnonsynonymous SNVScore=689;Name=lod=844NA3p14.3Score=990;Name=V$LYF1_01NANANArs115445930.07268370.1590.0040.12820.00680.10430.12980.170.09T0.455P0.111B0.000D0.000P0.895L2.69T-0.973T0.000T1.67111.555.652.2728.68916.1611.6710671.67106700.170930.04335NA0.08NA13.3736034
1237826473782647ATexonicEFCAB4BNAnonsynonymous SNVexonicENSG00000130038NAnonsynonymous SNVScore=529;Name=lod=188NA12p13.32NANANANArs360304170.1707270.14710.1270.23630.1150.26890.17190.240.59T0.974D0.601P0.001D0.995P1.895L2.7T-1.097T0.000T1.51211.01-8.51-2.641-3.8089.6521.5118251.5118250.40.1426740.12483NA0.181NA13.3716594
1236700857236700857CTexonicLGALS8NAnonsynonymous SNVexonicENSG00000116977NAnonsynonymous SNVScore=346;Name=lod=34NA1q43Score=694;Name=V$P53_01Name=MafK_(ab50322)NANArs10419350.50.67590.47620.50720.44550.41210.61050.680.08T0.42B0.065B0.000D0.000P2.415M3.36T-1.013T0.000T3.16316.585.452.8377.14619.4713.1634723.1634720.090.6823260.493418ID=COSM146351;OCCURENCE=1(stomach)0.522NA13.3646074
1774908107490810GAexonicMPDU1NAnonsynonymous SNVexonicENSG00000129255NAnonsynonymous SNVScore=571;Name=lod=278NA17p13.1NAName=CTCFName=93NArs108528910.156150.1590.15670.1210.16110.17080.1540.20.2T0.602P0.043B..0.000P1.975M-0.91T-1.090T0.000T2.88515.612.120.8270.8705.5502.8851172.8851170.090.1673260.176577NA0.138CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081188.1;CLNDSDB=.;CLNDSDBID=.13.3530074
5150946773150946773GAexonicFAT2NAnonsynonymous SNVexonicENSG00000086570NAnonsynonymous SNVScore=265;Name=lod=16NA5q33.1NANANANArs14328620.4179310.49010.35620.45240.43650.35790.46730.520.02D0.99D0.659P0.551N0.008P1.935M0.72T-0.915T0.000T2.02312.724.331.1486.63815.6602.0226372.0226370.020.5233720.439401NA0.428NA13.3525614
125344295653442956GCexonicTENC1NAnonsynonymous SNVexonicENSG00000111077NAnonsynonymous SNVScore=295;Name=lod=21NA12q13.13Score=964;Name=V$LYF1_01Name=Pol2,CtBP2,p300,GRName=94NArs123690330.3734030.72370.13290.44520.18680.46220.56470.710.1T0.13B0.052B0.472N0.000P..-3.4D-0.941T0.000T1.1389.6372.751.1181.3976.9141.137981NA00.6996510.254199NA0.522NA13.3452824
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
16464327764643277CTexonicROR1NAnonsynonymous SNVexonicENSG00000185483NAnonsynonymous SNVScore=524;Name=lod=180NA1p31.3Score=840;Name=V$AP4_01NANANArs75270170.2432110.35490.31150.29680.04160.29240.30430.380.07T0.788P0.532P0.019N0.000P0.485N-1.68D-0.285T0.323T2.41114.025.041.4751.78517.0082.4107952.4107950.070.3322090.078529NA0.319NA13.3419244
86549342965493429TGexonicBHLHE22NAnonsynonymous SNVexonicENSG00000180828NAnonsynonymous SNVScore=750;Name=lod=1487NA8q12.3Score=772;Name=V$PAX5_01Name=TBP,Pol2Name=16NArs70162500.5287540.3260.55460.44520.770.44380.41740.751T0.0B0.0B0.003N1.000P-0.145N-3.45D-0.944T0.000T-1.4370.022.50.2723.1467.316-1.436684NA10.2533320.647783NANANA13.3366014
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
172131869821318698CTexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=514;Name=lod=164NA17p11.2NANANANArs1657738NANANANANANA0.49920.50.12T0.88P0.179B0.000D1.000D1.735L<