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{"sheet":"table S1","index":0,"n_rows":13,"n_cols":449,"rows_kept":13,"merged":[[0,0,0,11]]}
["The expression of Migrosome-Associated Genes in Gastric Cancer from TCGA"]
[]
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["PKD1",6.7001,4.0816,0.434,3.5872,45.4028,2.0759,4.4016,4.08,4.5881,11.7297,2.144,15.3879,14.7375,5.5439,76.9012,55.1526,26.0788,4.9996,7.0257,1.6789,4.3104,1.9391,3.6973,2.4172,22.5415,17.632,48.6117,4.4154,15.2577,65.1523,46.27,9.7176,55.3421,43.7271,4.598,15.9425,8.2332,25.5312,3.0448,11.8679,17.4141,5.6929,4.8025,54.4985,15.511,16.544,4.7032,17.7973,2.6087,8.8792,9.5343,3.8594,37.0278,8.944,3.2431,16.2145,15.4398,7.7094,15.3787,11.2816,8.4021,10.9915,9.8714,2.1765,6.3923,18.8997,14.4065,43.4033,4.6563,15.8953,7.6069,2.9388,4.7402,9.4296,8.8128,4.6957,7.1996,13.9203,24.318,2.9369,2.7941,12.6863,3.7349,2.8157,23.001,11.7929,6.6174,46.7042,4.3235,18.0017,4.3791,43.5684,27.6509,5.1601,18.6199,10.8927,48.5776,11.9419,55.7308,10.516,10.1646,3.7467,8.2938,9.4869,10.205,6.393,12.9589,7.4773,11.239,13.6839,6.7789,4.2711,2.0726,15.6563,12.6878,1.5608,13.6823,5.2465,40.8027,7.5096,28.6389,36.3431,9.9333,12.5731,9.2421,4.4556,16.5654,31.7459,5.1258,8.3885,17.5898,3.2998,21.4086,28.71,4.9693,15.2046,15.7627,12.2256,7.6714,8.5365,4.5378,18.4212,3.7008,12.2164,21.0243,7.6639,14.4994,14.3824,5.8929,8.9143,9.2051,4.8605,13.0949,59.7257,40.3442,2.805,10.1553,11.7366,4.9268,11.9888,13.0154,8.3876,4.0775,8.7986,14.4849,16.5748,28.6774,4.7753,14.1029,7.4743,11.3305,11.3129,18.2887,3.7175,8.2347,5.0491,4.9406,73.5829,7.792,13.1007,27.066,5.6515,10.6904,4.7631,7.3218,11.8795,7.223,3.6216,20.6938,11.4667,7.8952,14.3136,8.6198,36.2019,3.6316,10.2212,12.2161,10.5774,10.9165,7.8988,12.5296,24.6594,3.3652,3.5286,6.8987,11.7767,10.4686,35.565,3.8455,21.5931,13.5562,6.7634,10.6132,13.3324,5.7057,20.5025,2.4341,5.828,13.67,20.9194,30.8818,4.22,9.1891,2.5913,23.4092,12.341,6.1584,46.9868,10.3183,2.1859,10.8385,7.4702,5.8242,39.861,7.721,17.4411,13.9517,10.5615,8.8907,19.579,12.1241,8.1882,4.7309,4.4713,6.5337,11.0137,12.59,15.9881,21.6853,17.2151,23.1051,27.3349,9.4523,12.5024,7.5902,14.4369,24.8962,6.4944,5.0133,8.0163,65.4485,5.946,6.2104,11.2687,18.8323,2.5822,7.1447,7.681,3.0392,2.4612,20.3604,8.761,8.8069,14.0212,7.4966,3.5282,11.3033,11.9442,16.4679,6.4444,7.7139,14.2126,10.5039,13.0103,79.5383,4.3862,4.7184,3.8436,6.5262,6.7541,13.86,38.6816,19.8405,4.8952,6.476,3.5781,17.6401,17.5118,7.0134,9.754,5.2376,6.6443,7.9423,8.1819,11.4885,8.3623,3.1812,7.4389,2.3097,14.0052,0.9222,6.6404,5.525,24.899,51.4762,5.5658,19.918,2.8863,5.1459,20.3252,29.2971,36.2411,12.7968,1.6495,44.3637,14.0389,4.474,12.7337,5.5,13.789,21.0723,5.1528,11.1297,10.3853,8.1618,8.6446,26.1785,19.5544,14.9029,25.9771,26.1467,19.2994,4.6201,1.6199,5.7785,7.8243,12.7859,7.6562,17.7451,39.1968,14.8629,5.8984,1.8419,21.9065,16.5766,9.6991,3.5063,10.9522,4.5969,11.0003,31.1038,17.4854,4.9985,7.6205,53.7789,8.6787,27.6893,3.0919,12.0431,4.3838,3.6615,34.7353,3.3342,20.1239,8.0598,13.8317,4.3748,12.645,18.8962,22.3845,17.7677,22.2426,12.5716,12.4127,31.5503,1.79,11.6822,8.4579,19.7414,9.7705,23.4953,5.311,13.7256,5.3861,14.4669,13.4946,3.9454,27.6914,11.5908,19.528,12.8695,9.9657,15.77,28.2557,35.7774,6.3523,4.9075,7.3634,2.4201,8.7638,3.6803,10.4529,16.856,9.3826,11.3097,1.9018,19.5839,13.3956,8.4414,36.1664,6.6061,2.8616,18.8029,28.0216,12.2506,7.4441,8.3708,42.1147,30.0878,10.941,10.8031,11.8342,8.0114,8.4185,12.3476,8.4172,12.2762,22.3054,14.7606,6.7982,1.4772,4.8107,3.8233,1.7383,12.1872,9.1988,23.868,5.611]

{"sheet":"table S2","index":1,"n_rows":1205,"n_cols":6,"rows_kept":1205,"merged":[[0,2,0,5]]}
[null,null,"Migrosome-associated LncRNAs (MRLs)"]
[]
[null,null,"Migrasome associaged genes","lncRNA","cor","pvalue"]
[null,null,"EPCIP","EIF1B-AS1",0.434542319831805,{"v":2.09457752660719e-20,"d":"2.09E-20"}]
[null,null,"EPCIP","AL031432.5",0.433473371813252,{"v":2.6541131096786e-20,"d":"2.65E-20"}]
[null,null,"PKD2","AC120498.10",0.402741465338664,{"v":1.69305963437682E-17,"d":"1.69E-17"}]
[null,null,"PKD1","AC120498.10",0.458409506408389,{"v":8.47247076850044e-23,"d":"8.47E-23"}]
[null,null,"ITGA5","MIR497HG",0.544521609073328,{"v":3.51126934765943e-33,"d":"3.51E-33"}]
[null,null,"EOGT","MIR497HG",0.445890123250442,{"v":1.60989936179355e-21,"d":"1.61E-21"}]
[null,null,"CPQ","MIR497HG",0.481879619201501,{"v":2.42027395558552e-25,"d":"2.42E-25"}]
[null,null,"PKD2","MIR497HG",0.575841448876803,{"v":9.25196140012872e-38,"d":"9.25E-38"}]
[null,null,"PKD1","MIR497HG",0.64011107720789,{"v":7.0970752336984e-49,"d":"7.10E-49"}]
[null,null,"EPCIP","AL590004.3",0.537664173261255,{"v":3.05577498902442e-32,"d":"3.06E-32"}]
[null,null,"ITGA5","GAS1RR",0.458563166207484,{"v":8.16552966567566e-23,"d":"8.17E-23"}]
[null,null,"EOGT","GAS1RR",0.535505014129721,{"v":5.97793833843164e-32,"d":"5.98E-32"}]
[null,null,"CPQ","GAS1RR",0.476320455195941,{"v":1.01005235918304E-24,"d":"1.01E-24"}]
[null,null,"TSPAN4","GAS1RR",0.479990071532235,{"v":3.94491684491386e-25,"d":"3.94E-25"}]
[null,null,"PKD2","GAS1RR",0.757208902474479,{"v":7.53005494593804e-78,"d":"7.53E-78"}]
[null,null,"PKD1","GAS1RR",0.606774223058589,{"v":8.56676355425562e-43,"d":"8.57E-43"}]
[null,null,"PKD1","AP005131.4",0.467406000817905,{"v":9.46108586885914e-24,"d":"9.46E-24"}]
[null,null,"EPCIP","AC008735.4",0.414522758875774,{"v":1.53952064728886E-18,"d":"1.54E-18"}]
[null,null,"EPCIP","CLIP1-AS1",0.441026411500791,{"v":4.89236999432105e-21,"d":"4.89E-21"}]
[null,null,"PKD2","LINC01235",0.449340219765734,{"v":7.23844224739078E-22,"d":"7.24E-22"}]
[null,null,"EPCIP","KIF9-AS1",0.531484499786308,{"v":2.05897779978064e-31,"d":"2.06E-31"}]
[null,null,"PKD1","KIF9-AS1",0.431618692412546,{"v":3.99447310613067e-20,"d":"3.99E-20"}]
[null,null,"CPQ","AC104794.3",0.455712497180457,{"v":1.61426123596332E-22,"d":"1.61E-22"}]
[null,null,"PKD2","AC104794.3",0.494467600096142,{"v":8.63424114581276e-27,"d":"8.63E-27"}]
[null,null,"EPCIP","LINC00612",0.442457421705049,{"v":3.53425139228404E-21,"d":"3.53E-21"}]
[null,null,"EPCIP","AC119396.2",0.42070872407202,{"v":4.20676319343362e-19,"d":"4.21E-19"}]
[null,null,"NDST1","ITPRIP-AS1",0.435552314448252,{"v":1.67343459965902e-20,"d":"1.67E-20"}]
[null,null,"PKD1","ITPRIP-AS1",0.443657398626585,{"v":2.68756668340608e-21,"d":"2.69E-21"}]
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[null,null,"PKD1","AC107021.2",0.442698493171467,{"v":3.34534572339062e-21,"d":"3.35E-21"}]
[null,null,"EPCIP","AC035139.1",0.41184987345458,{"v":2.67457367945732e-18,"d":"2.67E-18"}]
[null,null,"EPCIP","LINC00345",0.475747902981916,{"v":1.1684407388027e-24,"d":"1.17E-24"}]
[null,null,"EOGT","AC024075.2",0.454688863023279,{"v":2.05865101989465e-22,"d":"2.06E-22"}]
[null,null,"PKD2","AC024075.2",0.503487035099491,{"v":7.26861627599275e-28,"d":"7.27E-28"}]
[null,null,"PKD1","AC024075.2",0.54386284674735,{"v":4.33184518767732e-33,"d":"4.33E-33"}]
[null,null,"EPCIP","LINC02576",0.439272187421723,{"v":7.27324716539794e-21,"d":"7.27E-21"}]
[null,null,"EPCIP","PHACTR2-AS1",0.401903823502259,{"v":2.000536624157e-17,"d":"2.00E-17"}]
[null,null,"TSPAN4","AC090559.1",0.558477660229703,{"v":3.67198763967364E-35,"d":"3.67E-35"}]
[null,null,"PKD2","AC090559.1",0.455077002657536,{"v":1.87750057643639E-22,"d":"1.88E-22"}]
[null,null,"EPCIP","GLYCTK-AS1",0.423828048635615,{"v":2.16463699546956e-19,"d":"2.16E-19"}]
[null,null,"ITGA5","AC016026.1",0.521064066433683,{"v":4.70672405415081E-30,"d":"4.71E-30"}]
[null,null,"EOGT","AC016026.1",0.522566692214861,{"v":3.01739546016315e-30,"d":"3.02E-30"}]
[null,null,"PKD2","AC016026.1",0.55850634863791,{"v":3.63691421744994e-35,"d":"3.64E-35"}]
[null,null,"PKD1","AC016026.1",0.654768809260748,{"v":8.54100728409498e-52,"d":"8.54E-52"}]
[null,null,"EPCIP","AC016683.1",0.441605150411471,{"v":4.29028241353623e-21,"d":"4.29E-21"}]
[null,null,"EPCIP","AL031772.1",0.444164432038951,{"v":2.39310419576482e-21,"d":"2.39E-21"}]
[null,null,"EPCIP","AL353593.1",0.402324595668645,{"v":1.83978116564554e-17,"d":"1.84E-17"}]
[null,null,"PKD2","AL353593.1",0.462886794450728,{"v":2.86891482718967e-23,"d":"2.87E-23"}]
[null,null,"PKD1","AL353593.1",0.478554880600348,{"v":5.70576290702622e-25,"d":"5.71E-25"}]
[null,null,"EOGT","L3MBTL2-AS1",0.442816655066186,{"v":3.25642258931016e-21,"d":"3.26E-21"}]
[null,null,"EPCIP","L3MBTL2-AS1",0.433850630906476,{"v":2.44158691579053E-20,"d":"2.44E-20"}]
[null,null,"PKD2","L3MBTL2-AS1",0.473655365985944,{"v":1.98520824811915e-24,"d":"1.99E-24"}]
[null,null,"PKD1","L3MBTL2-AS1",0.491519965530293,{"v":1.90811104173909e-26,"d":"1.91E-26"}]
[null,null,"NDST1","AC144831.1",0.417431101979523,{"v":8.3933513279847e-19,"d":"8.39E-19"}]
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[null,null,"PKD2","AL157893.2",0.480865021577253,{"v":3.14742541853862e-25,"d":"3.15E-25"}]
[null,null,"PKD1","AL157893.2",0.518644609181717,{"v":9.58523704147932e-30,"d":"9.59E-30"}]
[null,null,"ITGA5","BNC2-AS1",0.499577805882829,{"v":2.14391453482671E-27,"d":"2.14E-27"}]
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[null,null,"CPQ","BNC2-AS1",0.437539774471076,{"v":1.07353831779506e-20,"d":"1.07E-20"}]
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[null,null,"EPCIP","AC027018.1",0.419631306040175,{"v":5.28350712067255e-19,"d":"5.28E-19"}]
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[null,null,"EPCIP","AC092068.3",0.474757324323356,{"v":1.50237179408839E-24,"d":"1.50E-24"}]
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[null,null,"EPCIP","ENTPD1-AS1",0.402663535989349,{"v":1.71958436603599e-17,"d":"1.72E-17"}]
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[null,null,"EPCIP","AC016957.2",0.501993382099809,{"v":1.10065919111416E-27,"d":"1.10E-27"}]
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[null,null,"ITGA5","AC025280.1",0.520464336607356,{"v":5.61714152886753e-30,"d":"5.62E-30"}]
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[null,null,"PKD2","HOXB-AS1",0.417900086441048,{"v":7.60698066427402e-19,"d":"7.61E-19"}]
[null,null,"EPCIP","DHDDS-AS1",0.559408409208947,{"v":2.68822371436133E-35,"d":"2.69E-35"}]
[null,null,"ITGA5","AC090197.1",0.454512080036492,{"v":2.14676979889148e-22,"d":"2.15E-22"}]
[null,null,"EOGT","AC090197.1",0.404290064544951,{"v":1.24206457693633E-17,"d":"1.24E-17"}]
[null,null,"PKD2","AC090197.1",0.438117051319341,{"v":9.43150861385191e-21,"d":"9.43E-21"}]
[null,null,"PKD1","AC090197.1",0.484449182248017,{"v":1.23939547463598e-25,"d":"1.24E-25"}]
[null,null,"ITGA5","AC099066.2",0.491575137979531,{"v":1.88013203361609E-26,"d":"1.88E-26"}]
[null,null,"PKD1","AC007347.1",0.413380688526908,{"v":1.95047202510256E-18,"d":"1.95E-18"}]
[null,null,"ITGA5","AC110491.1",0.506871052046586,{"v":2.81766206416429e-28,"d":"2.82E-28"}]
[null,null,"EOGT","AC110491.1",0.519980018069037,{"v":6.47771718383956e-30,"d":"6.48E-30"}]
[null,null,"PKD2","AC110491.1",0.559174948520522,{"v":2.90721427564512e-35,"d":"2.91E-35"}]
[null,null,"PKD1","AC110491.1",0.452208824441061,{"v":3.69808496433622e-22,"d":"3.70E-22"}]
[null,null,"ITGB1","AP000808.1",0.416668659734509,{"v":9.84574973191326e-19,"d":"9.85E-19"}]
[null,null,"ITGA5","AP000808.1",0.450615493676587,{"v":5.37429032621307e-22,"d":"5.37E-22"}]
[null,null,"EOGT","AP000808.1",0.593085314733402,{"v":1.68824776149889E-40,"d":"1.69E-40"}]
[null,null,"CPQ","AP000808.1",0.431331229927915,{"v":4.25480124947094e-20,"d":"4.25E-20"}]
[null,null,"PKD2","AP000808.1",0.65436182183794,{"v":1.03459694471929E-51,"d":"1.03E-51"}]
[null,null,"PKD1","AP000808.1",0.680620051360354,{"v":2.32000567649098e-57,"d":"2.32E-57"}]
[null,null,"ITGB1","C2orf27A",0.463276624477204,{"v":2.60880161584509e-23,"d":"2.61E-23"}]
[null,null,"PKD2","AC108053.1",0.404447886597096,{"v":1.20335720272531E-17,"d":"1.20E-17"}]
[null,null,"ITGA5","MIR1-1HG-AS1",0.681734103445377,{"v":1.29624481803531e-57,"d":"1.30E-57"}]
[null,null,"EOGT","MIR1-1HG-AS1",0.603865660109307,{"v":2.68951439344142e-42,"d":"2.69E-42"}]
[null,null,"CPQ","MIR1-1HG-AS1",0.402370611629366,{"v":1.82299069529156e-17,"d":"1.82E-17"}]
[null,null,"PKD2","MIR1-1HG-AS1",0.687000235388788,{"v":7.98512214137179e-59,"d":"7.99E-59"}]
[null,null,"PKD1","MIR1-1HG-AS1",0.721132637121885,{"v":2.42530707846735E-67,"d":"2.43E-67"}]
[null,null,"EPCIP","AC103858.3",0.428112794974394,{"v":8.59192418828196e-20,"d":"8.59E-20"}]

{"sheet":"table S3","index":2,"n_rows":207,"n_cols":11,"rows_kept":207,"merged":[[0,2,0,10]]}
[null,null," The sample information of Training set"]
[]
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[null,null,"TCGA-D7-6815",1.33150684931507,0,0,0.308127844178741,0.216734219600131,1.23468524785663,1.2322084005025,"high"]
[null,null,"TCGA-BR-4366",0.00273972602739726,0,0.23094077612394,1.02290040211008,0,1.24768451276238,3.33205141287231,"high"]
[null,null,"TCGA-D7-6519",1.71232876712329,0,0,0.381947800689102,0,0.298306395806485,0.920312044489746,"low"]
[null,null,"TCGA-CD-8528",1.02739726027397,0,0,0.444455046113936,0,0.0354831521286886,0.757982070776444,"low"]
[null,null,"TCGA-BR-8365",1.46027397260274,1,0.664573859262595,0.894449162196864,0.0978804340519131,1.07566953523283,3.050751004843,"high"]
[null,null,"TCGA-RD-A7BS",0.920547945205479,1,1.03019480388584,1.07148810558418,0,1.13441810556385,5.69873263063935,"high"]
[null,null,"TCGA-D7-6820",0.942465753424658,0,0,0.214497867900516,0,0.0835197488201729,0.708327558082619,"low"]
[null,null,"TCGA-VQ-A8PB",2.85753424657534,1,0,0.101381142355025,0.0697021666300674,0.537246360979073,0.849248261705258,"low"]
[null,null,"TCGA-BR-A4IU",2.2958904109589,0,0.591583680843536,0.728051107820429,0.342782281956128,0.983239895268988,1.44998588659784,"high"]
[null,null,"TCGA-VQ-A91A",3.28767123287671,0,0,0.892274439785344,0.0873270517974754,1.47617427714516,2.63973448316046,"high"]
[null,null,"TCGA-D7-6520",1.56986301369863,0,0.116897018288262,0.568518597792544,0.751035176667862,0.796846902661461,0.329660706374353,"low"]
[null,null,"TCGA-HU-A4G6",2.02191780821918,0,0,0.19206788447965,0.133563525741106,0.0825663510714117,0.524246513638111,"low"]
[null,null,"TCGA-BR-A4IY",1.07397260273973,0,0,0.587557017429608,0,0.540523296438219,1.24622858214591,"high"]
[null,null,"TCGA-BR-7197",0.767123287671233,0,0,0.132642642539619,0.258940968105506,0.37684601401632,0.49891547477891,"low"]
[null,null,"TCGA-HF-7134",4.35068493150685,0,0,0.542802827427389,0.208517259805544,0.249506020989147,0.606165425280416,"low"]
[null,null,"TCGA-RD-A7BW",0.427397260273973,1,1.44509101484404,1.65507700338248,0,1.40397662321088,12.9602117358626,"high"]
[null,null,"TCGA-BR-8683",0.821917808219178,1,0.128689328846787,0.692427198089708,0.223669671388246,1.35230655290634,1.77460061516227,"high"]
[null,null,"TCGA-BR-6707",1.65753424657534,1,0,0.657457084573512,0.436908051714152,0.193077821546367,0.371742045829543,"low"]
[null,null,"TCGA-MX-A663",0.821917808219178,1,0.0569996303855637,1.29560548858806,0.283803270928366,0.823749360308273,1.25078204462701,"high"]
[null,null,"TCGA-D7-A6EX",0.942465753424658,0,0.177471364444951,0.343805752252313,0,0.335940528503476,1.06867277199089,"high"]
[null,null,"TCGA-CD-A4MJ",1.05205479452055,0,0,0.308710351168077,0.196858801366356,0.422448312233464,0.644821840263824,"low"]
[null,null,"TCGA-VQ-A91V",3.55342465753425,0,0.0487941802608049,0.240985904024739,0.0866479127551883,0.129480858698878,0.641573860651849,"low"]
[null,null,"TCGA-BR-A44T",2.84383561643836,0,0.324465006331542,0.637192886958848,0.154971988316384,0.755827619222285,1.40274603498789,"high"]
[null,null,"TCGA-BR-8362",1.09041095890411,1,0.0880058712900202,0.956948765214749,0.359183789974511,0.330558400030802,0.60927889441359,"low"]
[null,null,"TCGA-D7-A4YV",0.493150684931507,0,0,1.08222569912752,0.339593500965398,0.599889044959259,0.793026007377109,"low"]
[null,null,"TCGA-BR-8361",2.59178082191781,0,0,0.416299305479879,0.246468895028775,0.154583209053069,0.485112510568647,"low"]
[null,null,"TCGA-BR-A452",0.627397260273973,1,0,0.131457785479088,0.0686020273786715,0.39011735366633,0.761875827215953,"low"]
[null,null,"TCGA-HU-A4HB",1.30684931506849,1,0,1.00245049923482,0,0.436694887552877,1.38786412411323,"high"]
[null,null,"TCGA-VQ-A8E7",3.11780821917808,0,0,0.0833835877100825,0.0851526805631383,0.393745670660825,0.720744346993553,"low"]
[null,null,"TCGA-BR-6455",1.15616438356164,1,0.0588013536161862,1.14385051536735,0,0.155231116299279,1.22140500652967,"high"]
[null,null,"TCGA-VQ-A91K",5.1013698630137,0,0,0.683112521813168,0.372394965238024,0.301587646603187,0.474601898605335,"low"]
[null,null,"TCGA-BR-6454",0.00273972602739726,0,0,0.580820835710413,0,0.206268124520983,0.934818709363136,"low"]
[null,null,"TCGA-VQ-A94T",0.936986301369863,1,0,0,0,0.184470736640092,0.697476277062267,"low"]
[null,null,"TCGA-B7-A5TI",1.63013698630137,0,0,0.397145797392781,0,0.305445278553553,0.932588638191505,"low"]
[null,null,"TCGA-D7-6522",1.55068493150685,0,0,1.67820715143315,0.204516369702772,0.272739878117461,1.06622638524169,"high"]
[null,null,"TCGA-BR-A4IV",2.38082191780822,1,0.658462861174109,0.498046577660465,0.531967777397682,1.04809665327294,0.959846677430441,"low"]
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{"sheet":"table S4","index":3,"n_rows":206,"n_cols":11,"rows_kept":206,"merged":[[0,2,0,10]]}
[null,null," The sample information of Test set"]
[]
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{"sheet":"table S5","index":4,"n_rows":434,"n_cols":4,"rows_kept":434,"merged":[[0,1,0,4]]}
[null,"Tumor Mutation Burden (TMB)"]
[]
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{"sheet":"table S6","index":5,"n_rows":451,"n_cols":26,"rows_kept":451,"merged":[[0,0,0,11]]}
["The results of Estimating Relative Subsets of RNA Transcripts (CIBERSORT) "]
[]
["Mixture","B cells naive","B cells memory","Plasma cells","T cells CD8","T cells CD4 naive","T cells CD4 memory resting","T cells CD4 memory activated","T cells follicular helper","T cells regulatory (Tregs)","T cells gamma delta","NK cells resting","NK cells activated","Monocytes","Macrophages M0","Macrophages M1","Macrophages M2","Dendritic cells resting","Dendritic cells activated","Mast cells resting","Mast cells activated","Eosinophils","Neutrophils","P-value","Correlation","RMSE"]
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{"sheet":"table S7","index":6,"n_rows":538,"n_cols":8,"rows_kept":538,"merged":[[0,2,0,7]]}
[null,null,"DEGs between high and low MRLs risk groups in gastric cancer"]
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[null,null,"TACR1",0.526429292929293,1.46117559808612,1.47281789117058,{"v":2.27298233271884E-7,"d":"2.27E-07"},{"v":2.0825691657524e-06,"d":"2.08E-06"}]
[null,null,"RTL1",0.901733838383838,1.88363827751196,1.0627483789403,{"v":2.3921147946368e-07,"d":"2.39E-07"},{"v":2.18137788561793e-06,"d":"2.18E-06"}]
[null,null,"SGCA",3.75836111111111,8.99295741626794,1.25869194668198,{"v":4.21106518036474e-07,"d":"4.21E-07"},{"v":3.59501342594712e-06,"d":"3.60E-06"}]
[null,null,"NALT1",1.2655196969697,2.6615971291866,1.07256225302635,0.015903113993148,0.0320161093240152]
[null,null,"VGLL3",2.1996696969697,5.06312583732057,1.20274143646368,{"v":1.35551060007594E-17,"d":"1.36E-17"},{"v":1.17861646676603e-14,"d":"1.18E-14"}]
[null,null,"FCRLB",0.972171717171717,2.33423923444976,1.2636693610097,{"v":2.34989839495861e-05,"d":"2.35E-05"},1.23235021376147E-4]
[null,null,"NKX2-5",1.45141313131313,2.99205933014354,1.04368055534904,0.0252351378278001,0.0470857346379231]
[null,null,"NPR3",0.924865151515151,1.99703684210526,1.11054601219054,{"v":1.23454159268911e-10,"d":"1.23E-10"},{"v":3.0452025952998e-09,"d":"3.05E-09"}]
[null,null,"SYT4",0.174963131313131,2.83932488038278,4.02042508338914,{"v":1.08378601798025e-06,"d":"1.08E-06"},{"v":8.37646171230069e-06,"d":"8.38E-06"}]
[null,null,"GPR183",17.5104525252525,35.3723320574163,1.0144049693715,{"v":8.06117807164902e-18,"d":"8.06E-18"},{"v":8.95665958054454e-15,"d":"8.96E-15"}]
[null,null,"LIMS2",7.86705555555556,16.9897502392344,1.11076896731646,{"v":5.85461430664645e-09,"d":"5.85E-09"},{"v":8.47724752644311e-08,"d":"8.48E-08"}]
[null,null,"RGMA",6.78852575757576,16.3308416267943,1.26642893546467,{"v":4.09770818394306e-08,"d":"4.10E-08"},{"v":4.66661069540077e-07,"d":"4.67E-07"}]
[null,null,"MIR100HG",0.958561111111111,2.39990717703349,1.32403629071908,{"v":1.02768856162976E-16,"d":"1.03E-16"},{"v":4.96430669076153e-14,"d":"4.96E-14"}]
[null,null,"DLK1",0.387117676767677,29.7199205741627,6.26251426386363,0.00136074333935478,0.00398640947967986]
[null,null,"FEV",2.28802777777778,13.8245291866029,2.59505387596877,0.0223808998083673,0.0425184837547677]
[null,null,"GALNT15",1.41780909090909,3.83296459330144,1.43479738577037,{"v":8.77070377591429e-12,"d":"8.77E-12"},{"v":3.29422329726025e-10,"d":"3.29E-10"}]
[null,null,"LSAMP",3.3491398989899,6.78765454545455,1.01912250044237,{"v":1.14491583536388E-11,"d":"1.14E-11"},{"v":4.07993573298727e-10,"d":"4.08E-10"}]
[null,null,"CGA",0.934738888888889,3.54786315789474,1.92431504336546,0.0268055721690164,0.0494138441826062]
[null,null,"ST6GALNAC5",2.36361464646465,4.89526076555024,1.05039086885838,{"v":1.53599032646817E-15,"d":"1.54E-15"},{"v":3.5614495703042e-13,"d":"3.56E-13"}]
[null,null,"AC036108.3",1.18092373737374,2.53664784688995,1.10300744923022,{"v":7.4864271570644e-07,"d":"7.49E-07"},{"v":6.02453244897928e-06,"d":"6.02E-06"}]
[null,null,"CHRNA3",1.8355505050505,4.78869090909091,1.38341850772313,{"v":5.66353155282943e-06,"d":"5.66E-06"},{"v":3.5313307172357E-5,"d":"3.53E-05"}]
[null,null,"ADAMTSL3",1.5013,3.30758516746412,1.13956601021074,{"v":6.98327986601782e-11,"d":"6.98E-11"},{"v":1.90642444066012E-9,"d":"1.91E-09"}]
[null,null,"ZFPM2",1.47271363636364,3.14467799043062,1.09443536418823,{"v":9.34734946123057e-16,"d":"9.35E-16"},{"v":2.46288495652727e-13,"d":"2.46E-13"}]
[null,null,"SHISAL1",2.26122070707071,6.02494736842105,1.41384682496984,{"v":5.78241691293663e-11,"d":"5.78E-11"},{"v":1.63772361752391e-09,"d":"1.64E-09"}]
[null,null,"HPGDS",1.0192494949495,2.71637751196172,1.41417675191009,{"v":1.34257266985431E-14,"d":"1.34E-14"},{"v":1.94231174160665e-12,"d":"1.94E-12"}]
[null,null,"AL512326.2",0.629666161616162,1.37805263157895,1.12997194571215,{"v":2.8795309594528e-05,"d":"2.88E-05"},0.000147496445905403]
[null,null,"GIP",0.928018181818182,2.01195598086124,1.11637376492659,0.00100874993165283,3.09385561048372E-3]
[null,null,"SOX14",3.60857727272727,1.58162488038278,-1.19002267717807,0.0259495979869698,0.048114210418748]
[null,null,"GFRA1",2.86437424242424,6.95332248803828,1.27948250278051,{"v":8.17330100960308e-06,"d":"8.17E-06"},{"v":4.8659262087298E-5,"d":"4.87E-05"}]
[null,null,"SCN7A",0.624895454545455,2.06186411483254,1.72226250524503,{"v":9.00857471480642e-10,"d":"9.01E-10"},{"v":1.66304792240428E-8,"d":"1.66E-08"}]
[null,null,"SLC2A4",2.74924444444444,7.20111626794258,1.38918537328195,1.69616500709944E-4,0.000678076079849638]
[null,null,"MRC1",7.94228939393939,17.1546842105263,1.11097573395466,{"v":1.89421186931414e-13,"d":"1.89E-13"},{"v":1.3782570881746E-11,"d":"1.38E-11"}]
[null,null,"AC104530.1",0.934815656565657,1.93746220095694,1.05141436219636,{"v":9.56656179918281e-09,"d":"9.57E-09"},{"v":1.32560168300668e-07,"d":"1.33E-07"}]
[null,null,"CNR1",1.33775555555556,3.12671291866029,1.22483224297682,{"v":1.85784006068094E-7,"d":"1.86E-07"},{"v":1.74448372868475e-06,"d":"1.74E-06"}]
[null,null,"LY6G6C",8.71572525252525,2.22737416267943,-1.96827679100271,0.0129278397602835,0.026882842551117]
[null,null,"ASCL1",5.02084595959596,19.8939775119617,1.98632938226835,0.00511110367602179,0.0123584667583452]
[null,null,"SEZ6",0.926001515151515,2.39439043062201,1.37057195892989,{"v":2.0115490615716e-07,"d":"2.01E-07"},{"v":1.87263587691275E-6,"d":"1.87E-06"}]
[null,null,"RNF180",1.37860454545455,2.75968133971292,1.0012930114791,{"v":5.34946745081434e-13,"d":"5.35E-13"},{"v":3.13223026833877e-11,"d":"3.13E-11"}]
[null,null,"MEDAG",8.14091515151515,18.8839827751196,1.2139001845052,{"v":2.77156832982132E-13,"d":"2.77E-13"},{"v":1.88271770529659E-11,"d":"1.88E-11"}]
[null,null,"TCEAL7",2.8081398989899,6.42438086124402,1.1939426125352,{"v":1.15330413430877E-14,"d":"1.15E-14"},{"v":1.71418452099398e-12,"d":"1.71E-12"}]
[null,null,"HSPA7",2.55703787878788,5.24881339712919,1.03751777641387,{"v":7.70438836976156e-11,"d":"7.70E-11"},{"v":2.07719866279308E-9,"d":"2.08E-09"}]
[null,null,"DCN",53.389848989899,112.273759808612,1.0723834124564,{"v":3.94541729244173e-13,"d":"3.95E-13"},{"v":2.42441013129193e-11,"d":"2.42E-11"}]
[null,null,"UPK1B",4.62249595959596,13.7034181818182,1.56779184033145,0.00669233046486677,0.0154821906058312]
[null,null,"MIR5195",3.08543737373737,7.71089521531101,1.32142335111978,0.0105927424259209,0.022792352237907]
[null,null,"ASB5",0.874105555555556,2.83972248803828,1.69987053635498,{"v":7.89021997558306e-06,"d":"7.89E-06"},{"v":4.72001807276881E-5,"d":"4.72E-05"}]
[null,null,"MORN5",1.34746111111111,4.46614210526316,1.72878551990694,{"v":2.1037830221783E-5,"d":"2.10E-05"},1.11607037082613E-4]
[null,null,"AFF3",0.775912121212121,1.55362918660287,1.00167703967766,{"v":2.47969299347206e-08,"d":"2.48E-08"},{"v":3.03247968751611e-07,"d":"3.03E-07"}]
[null,null,"PROK2",1.00850909090909,2.35983684210526,1.22646302708834,0.00290834139350124,0.00765315585197277]
[null,null,"CLIP3",12.8357646464646,27.8536928229665,1.11769936967676,{"v":1.45793808407851E-14,"d":"1.46E-14"},{"v":2.03498320014711e-12,"d":"2.03E-12"}]
[null,null,"NHSL2",2.23324797979798,4.55702344497608,1.02894833608304,{"v":8.61316000732969e-14,"d":"8.61E-14"},{"v":7.84203416374153e-12,"d":"7.84E-12"}]
[null,null,"OMD",4.46594545454545,12.1784205741627,1.44728950566801,{"v":5.73604088899492e-12,"d":"5.74E-12"},{"v":2.29990360541244E-10,"d":"2.30E-10"}]
[null,null,"MIR938",1.39281464646465,3.18777368421053,1.19454592974666,{"v":3.42389731690637e-07,"d":"3.42E-07"},{"v":2.99504901111679e-06,"d":"3.00E-06"}]
[null,null,"GLI3",1.8079,3.89874832535885,1.1086961474478,{"v":1.1552454016481e-13,"d":"1.16E-13"},{"v":9.46191156386621e-12,"d":"9.46E-12"}]
[null,null,"CHRDL1",5.72388484848485,14.5972401913876,1.35062907985384,{"v":9.2161988046551e-12,"d":"9.22E-12"},{"v":3.43189929792189E-10,"d":"3.43E-10"}]
[null,null,"SVEP1",3.18683838383838,7.47807368421053,1.23054083001116,{"v":1.22697768222617E-12,"d":"1.23E-12"},{"v":6.23893037833716e-11,"d":"6.24E-11"}]
[null,null,"BARX1",33.0253494949495,75.7756177033493,1.19815987848038,{"v":1.09138194121113E-7,"d":"1.09E-07"},{"v":1.10407981138229E-6,"d":"1.10E-06"}]
[null,null,"SHISA2",4.41446060606061,11.2062622009569,1.34399608005655,{"v":7.30453072436179e-05,"d":"7.30E-05"},0.000327723914594044]

{"sheet":"table S8","index":7,"n_rows":647,"n_cols":10,"rows_kept":647,"merged":[[0,0,0,9]]}
["Gene Ontology (GO) analysis of DEGs between high- and low-risk groups for MRLs in GC"]
[]
["ONTOLOGY","ID","Description","GeneRatio","BgRatio","pvalue","p.adjust","qvalue","geneID","Count"]
["BP","GO:0003012","muscle system process","52/442","452/18870",{"v":1.34968110129506e-21,"d":"1.35E-21"},{"v":5.18547479117563e-18,"d":"5.19E-18"},{"v":4.02773254965421e-18,"d":"4.03E-18"},"ATP1A2/FLNA/CKMT2/SYNM/ACTA2/MYH11/KCNA5/PTGER3/CAV1/AKAP6/GDNF/MYLK/CALD1/FBXO32/DES/SGCD/RGS4/TACR2/KCNE4/ABCC9/PI16/HAND2/CASQ2/CNN1/DMD/CALCA/NR4A3/HTR2A/ANK2/TPM2/GUCY1A1/MIR145/CRYAB/LMOD1/P2RX1/MYOC/KCNMA1/CHGA/PLN/MYL9/MYOCD/SSPN/CHRM2/PPP1R12B/TMOD1/GNAO1/TACR1/SGCA/NKX2-5/CHRNA3/SCN7A/PROK2",52]
["BP","GO:0006936","muscle contraction","45/442","351/18870",{"v":1.10339389218439e-20,"d":"1.10E-20"},{"v":2.11961966688621e-17,"d":"2.12E-17"},{"v":1.6463798338646e-17,"d":"1.65E-17"},"ATP1A2/FLNA/CKMT2/SYNM/ACTA2/MYH11/KCNA5/PTGER3/CAV1/GDNF/MYLK/CALD1/DES/SGCD/TACR2/KCNE4/ABCC9/CASQ2/CNN1/DMD/CALCA/HTR2A/ANK2/TPM2/GUCY1A1/MIR145/CRYAB/LMOD1/P2RX1/KCNMA1/CHGA/PLN/MYL9/MYOCD/SSPN/CHRM2/PPP1R12B/TMOD1/GNAO1/TACR1/SGCA/NKX2-5/CHRNA3/SCN7A/PROK2",45]
["BP","GO:0006939","smooth muscle contraction","20/442","109/18870",{"v":8.52397119384534E-13,"d":"8.52E-13"},{"v":1.09163657755846E-9,"d":"1.09E-09"},{"v":8.47910818756194E-10,"d":"8.48E-10"},"ATP1A2/ACTA2/MYH11/PTGER3/CAV1/GDNF/MYLK/TACR2/CNN1/CALCA/HTR2A/GUCY1A1/MIR145/P2RX1/KCNMA1/MYOCD/CHRM2/TACR1/CHRNA3/PROK2",20]
["BP","GO:0030198","extracellular matrix organization","32/442","321/18870",{"v":5.5741356327617e-12,"d":"5.57E-12"},{"v":3.61184180906921e-09,"d":"3.61E-09"},{"v":2.80543892400099e-09,"d":"2.81E-09"},"IL6/MMP19/MYH11/ELANE/CAV1/CTSG/GREM1/RECK/CMA1/CYP1B1/COL14A1/PTX3/VTN/SFRP2/TNXB/LAMA2/DPT/ADAMTS8/CCDC80/ANGPTL7/ADAMTS16/HAS1/MMP16/FLRT2/FAP/LUM/PHLDB2/HMCN1/DDR2/ABI3BP/COL8A1/ADAMTSL3",32]
["BP","GO:0090257","regulation of muscle system process","28/442","247/18870",{"v":5.69765423487034E-12,"d":"5.70E-12"},{"v":3.61184180906921e-09,"d":"3.61E-09"},{"v":2.80543892400099e-09,"d":"2.81E-09"},"ATP1A2/CAV1/AKAP6/FBXO32/RGS4/TACR2/PI16/HAND2/CASQ2/CNN1/DMD/CALCA/NR4A3/ANK2/GUCY1A1/MIR145/P2RX1/CHGA/PLN/MYL9/MYOCD/CHRM2/PPP1R12B/TACR1/SGCA/NKX2-5/CHRNA3/PROK2",28]
["BP","GO:0043062","extracellular structure organization","32/442","322/18870",{"v":6.05756019034958e-12,"d":"6.06E-12"},{"v":3.61184180906921e-09,"d":"3.61E-09"},{"v":2.80543892400099e-09,"d":"2.81E-09"},"IL6/MMP19/MYH11/ELANE/CAV1/CTSG/GREM1/RECK/CMA1/CYP1B1/COL14A1/PTX3/VTN/SFRP2/TNXB/LAMA2/DPT/ADAMTS8/CCDC80/ANGPTL7/ADAMTS16/HAS1/MMP16/FLRT2/FAP/LUM/PHLDB2/HMCN1/DDR2/ABI3BP/COL8A1/ADAMTSL3",32]
["BP","GO:0045229","external encapsulating structure organization","32/442","323/18870",{"v":6.58065920444677e-12,"d":"6.58E-12"},{"v":3.61184180906921e-09,"d":"3.61E-09"},{"v":2.80543892400099e-09,"d":"2.81E-09"},"IL6/MMP19/MYH11/ELANE/CAV1/CTSG/GREM1/RECK/CMA1/CYP1B1/COL14A1/PTX3/VTN/SFRP2/TNXB/LAMA2/DPT/ADAMTS8/CCDC80/ANGPTL7/ADAMTS16/HAS1/MMP16/FLRT2/FAP/LUM/PHLDB2/HMCN1/DDR2/ABI3BP/COL8A1/ADAMTSL3",32]
["BP","GO:0006937","regulation of muscle contraction","21/442","170/18870",{"v":5.43104026040621e-10,"d":"5.43E-10"},{"v":2.60825708506008e-07,"d":"2.61E-07"},{"v":2.02592093924363e-07,"d":"2.03E-07"},"ATP1A2/CAV1/TACR2/CASQ2/CNN1/DMD/CALCA/ANK2/GUCY1A1/MIR145/P2RX1/CHGA/PLN/MYL9/MYOCD/CHRM2/PPP1R12B/TACR1/NKX2-5/CHRNA3/PROK2",21]
["BP","GO:0055001","muscle cell development","22/442","195/18870",{"v":1.21051219694014e-09,"d":"1.21E-09"},{"v":4.86802287137542e-07,"d":"4.87E-07"},{"v":3.78115697425938e-07,"d":"3.78E-07"},"MYH11/ACTL8/BVES/AKAP6/ANKRD1/CFL2/PGM5/SGCD/RGS4/PI16/DMD/ACTC1/ANK2/LMOD1/LDB3/ASB2/DNER/MYL9/FLNC/ACTN2/TMOD1/NKX2-5",22]
["BP","GO:0006940","regulation of smooth muscle contraction","13/442","61/18870",{"v":1.2670543652721E-9,"d":"1.27E-09"},{"v":4.86802287137542e-07,"d":"4.87E-07"},{"v":3.78115697425938e-07,"d":"3.78E-07"},"ATP1A2/CAV1/TACR2/CNN1/CALCA/GUCY1A1/MIR145/P2RX1/MYOCD/CHRM2/TACR1/CHRNA3/PROK2",13]
["BP","GO:1903522","regulation of blood circulation","25/442","258/18870",{"v":2.21816836489717e-09,"d":"2.22E-09"},{"v":7.7474571435772E-7,"d":"7.75E-07"},{"v":6.01771034878801e-07,"d":"6.02E-07"},"ATP1A2/FLNA/KCNA5/BVES/CAV1/FGG/DES/RGS4/KCNE4/ABCC9/AGTR1/CASQ2/HSPB7/DMD/TRPC1/HTR2A/ANK2/POPDC2/P2RX1/CHGA/ADORA3/PLN/CHRM2/TACR1/NKX2-5",25]
["BP","GO:0060537","muscle tissue development","33/442","433/18870",{"v":3.011967989323e-09,"d":"3.01E-09"},{"v":9.643317512482481E-7,"d":"9.64E-07"},{"v":7.49028881555326e-07,"d":"7.49E-07"},"MYH11/BVES/CAV1/AKAP6/ANKRD1/MYLK/CFL2/GREM1/PGM5/SGCD/MEOX2/RGS4/HLF/SVIL/PI16/DMD/JPH2/ACTC1/MIR145/MYOM1/POPDC2/ASB2/DNER/PLN/MYOCD/FGF2/RBM24/RBP4/ACTN2/SMYD1/TNN/NKX2-5/ZFPM2",33]
["BP","GO:0015837","amine transport","16/442","108/18870",{"v":4.43577381236987e-09,"d":"4.44E-09"},{"v":1.31094176824039E-6,"d":"1.31E-06"},{"v":1.0182525310177e-06,"d":"1.02E-06"},"ATP1A2/AQP9/GDNF/RGS4/TACR2/SLC18A2/PRKCB/HTR2A/CARTPT/CHGA/AQP8/ADORA3/VIP/SYT4/CHRNA3/CNR1",16]
["BP","GO:0042692","muscle cell differentiation","32/442","419/18870",{"v":5.00652855259861e-09,"d":"5.01E-09"},{"v":1.37393447850599E-6,"d":"1.37E-06"},{"v":1.06718108621181E-6,"d":"1.07E-06"},"MYH11/ACTL8/BVES/AKAP6/ANKRD1/CFL2/GREM1/PGM5/SGCD/RBPMS2/RGS4/PI16/DMD/ACTC1/ANK2/LAMA2/MIR145/FGF10/LMOD1/LDB3/ZEB1/POPDC2/ASB2/DNER/MYL9/MYOCD/RBM24/FLNC/ACTN2/SMYD1/TMOD1/NKX2-5",32]
["BP","GO:0030239","myofibril assembly","13/442","71/18870",{"v":9.06368542343189e-09,"d":"9.06E-09"},{"v":2.32151195978835e-06,"d":"2.32E-06"},{"v":1.80319636318803e-06,"d":"1.80E-06"},"MYH11/ACTL8/ANKRD1/CFL2/PGM5/ACTC1/LMOD1/LDB3/MYL9/FLNC/ACTN2/TMOD1/NKX2-5",13]
["BP","GO:0055002","striated muscle cell development","13/442","73/18870",{"v":1.28969959054681e-08,"d":"1.29E-08"},{"v":3.09689114180052e-06,"d":"3.10E-06"},{"v":2.40545943368434e-06,"d":"2.41E-06"},"MYH11/ACTL8/ANKRD1/CFL2/PGM5/ACTC1/LMOD1/LDB3/MYL9/FLNC/ACTN2/TMOD1/NKX2-5",13]
["BP","GO:0046879","hormone secretion","26/442","308/18870",{"v":1.90701538064699E-8,"d":"1.91E-08"},{"v":4.3098547602622e-06,"d":"4.31E-06"},{"v":3.34760904280757E-6,"d":"3.35E-06"},"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/AGTR1/SLC18A2/PRKCB/CARTPT/GRP/RETN/CPE/CHGA/SCG5/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/TACR1/CGA/GIP/CNR1",26]
["BP","GO:0007517","muscle organ development","28/442","354/18870",{"v":2.21391316120499E-8,"d":"2.21E-08"},{"v":4.72547464741643e-06,"d":"4.73E-06"},{"v":3.67043497778722e-06,"d":"3.67E-06"},"BVES/CAV1/ANKRD1/MYLK/CFL2/DES/SGCD/MEOX2/HLF/SVIL/DMD/JPH2/ACTC1/LAMA2/MIR145/CRYAB/MYOM1/POPDC2/ASB2/DNER/MYOCD/TAGLN/FHL1/RBM24/SMYD1/SGCA/NKX2-5/ZFPM2",28]
["BP","GO:0009914","hormone transport","26/442","319/18870",{"v":3.89294139419632e-08,"d":"3.89E-08"},{"v":7.8719372823696e-06,"d":"7.87E-06"},{"v":6.11439825625848e-06,"d":"6.11E-06"},"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/AGTR1/SLC18A2/PRKCB/CARTPT/GRP/RETN/CPE/CHGA/SCG5/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/TACR1/CGA/GIP/CNR1",26]
["BP","GO:0023061","signal release","33/442","484/18870",{"v":4.53060259117812e-08,"d":"4.53E-08"},{"v":8.70328757765318e-06,"d":"8.70E-06"},{"v":6.76013597157368e-06,"d":"6.76E-06"},"IL6/ADCY5/KCNA5/GDNF/FGG/NR1H4/NNAT/TACR2/SNAP25/AGTR1/SLC18A2/PRKCB/HTR2A/CARTPT/GRP/RETN/CPE/P2RX1/CHGA/ADORA3/SCG5/VIP/PTPRN/SFRP1/GRIK5/RBP4/ADCYAP1/TACR1/SYT4/CGA/CHRNA3/GIP/CNR1",33]
["BP","GO:0010927","cellular component assembly involved in morphogenesis","16/442","128/18870",{"v":5.30045266029559e-08,"d":"5.30E-08"},{"v":9.69730434326461e-06,"d":"9.70E-06"},{"v":7.53222220147269e-06,"d":"7.53E-06"},"MYH11/ACTL8/ANKRD1/CFL2/PGM5/ACTC1/ANK2/LMOD1/LDB3/PLN/MYL9/PHLDB2/FLNC/ACTN2/TMOD1/NKX2-5",16]
["BP","GO:0051146","striated muscle cell differentiation","25/442","305/18870",{"v":6.39015586430045e-08,"d":"6.39E-08"},{"v":1.11595358321101E-5,"d":"1.12E-05"},{"v":8.6679865432018e-06,"d":"8.67E-06"},"MYH11/ACTL8/BVES/AKAP6/ANKRD1/CFL2/GREM1/PGM5/SGCD/RGS4/PI16/ACTC1/LMOD1/LDB3/POPDC2/ASB2/DNER/MYL9/MYOCD/RBM24/FLNC/ACTN2/SMYD1/TMOD1/NKX2-5",25]
["BP","GO:0060047","heart contraction","22/442","243/18870",{"v":7.00260485901089e-08,"d":"7.00E-08"},{"v":1.16973947253565e-05,"d":"1.17E-05"},{"v":9.08575962256105e-06,"d":"9.09E-06"},"ATP1A2/FLNA/KCNA5/BVES/CAV1/DES/SGCD/RGS4/KCNE4/ABCC9/CASQ2/HSPB7/DMD/TRPC1/ACTC1/ANK2/POPDC2/CHGA/ADORA3/PLN/CHRM2/NKX2-5",22]
["BP","GO:0008217","regulation of blood pressure","19/442","187/18870",{"v":9.0197165485032e-08,"d":"9.02E-08"},{"v":1.44390629080622e-05,"d":"1.44E-05"},{"v":1.12153054451783e-05,"d":"1.12E-05"},"ATP1A2/ACTA2/CTSG/CPA3/CMA1/ABCC9/AGTR1/CALCA/GUCY1A1/CARTPT/P2RX1/NPY/ADAMTS16/CHGA/NPY1R/AR/TACR1/NPR3/CNR1",19]
["BP","GO:0003018","vascular process in circulatory system","23/442","269/18870",{"v":1.00843367951413E-7,"d":"1.01E-07"},{"v":1.47174793383659E-5,"d":"1.47E-05"},{"v":1.14315608439319E-5,"d":"1.14E-05"},"ATP1A2/ACTA2/KCNMB1/KCNA5/CAV1/FGG/VSTM4/AZU1/TACR2/FERMT2/ABCC9/AGTR1/CALCA/HTR2A/NTS/GUCY1A1/P2RX1/KCNMA1/AKAP12/SLIT2/SLC7A2/TACR1/SLC2A4",23]
["BP","GO:0008016","regulation of heart contraction","20/442","208/18870",{"v":1.03428407635575E-7,"d":"1.03E-07"},{"v":1.47174793383659E-5,"d":"1.47E-05"},{"v":1.14315608439319E-5,"d":"1.14E-05"},"ATP1A2/FLNA/KCNA5/BVES/CAV1/DES/RGS4/KCNE4/ABCC9/CASQ2/HSPB7/DMD/TRPC1/ANK2/POPDC2/CHGA/ADORA3/PLN/CHRM2/NKX2-5",20]
["BP","GO:0031032","actomyosin structure organization","20/442","208/18870",{"v":1.03428407635575E-7,"d":"1.03E-07"},{"v":1.47174793383659E-5,"d":"1.47E-05"},{"v":1.14315608439319E-5,"d":"1.14E-05"},"MYH11/ACTL8/ANKRD1/CFL2/PGM5/FERMT2/CNN1/ACTC1/LMOD1/LDB3/MYOC/MYL9/SFRP1/PHLDB2/FLNC/ACTN2/TMOD1/SORBS1/TACR1/NKX2-5",20]
["BP","GO:0043266","regulation of potassium ion transport","14/442","102/18870",{"v":1.10839110265803e-07,"d":"1.11E-07"},{"v":1.52087093443291E-5,"d":"1.52E-05"},{"v":1.18131156993816e-05,"d":"1.18E-05"},"FLNA/KCNMB1/KCNA5/CAV1/AKAP6/RGS4/KCNE4/CASQ2/HTR2A/ANK2/GRP/FHL1/VIP/ACTN2",14]
["BP","GO:0003015","heart process","22/442","255/18870",{"v":1.63746593112767E-7,"d":"1.64E-07"},{"v":2.16936003703189E-5,"d":"2.17E-05"},{"v":1.68501485108782e-05,"d":"1.69E-05"},"ATP1A2/FLNA/KCNA5/BVES/CAV1/DES/SGCD/RGS4/KCNE4/ABCC9/CASQ2/HSPB7/DMD/TRPC1/ACTC1/ANK2/POPDC2/CHGA/ADORA3/PLN/CHRM2/NKX2-5",22]
["BP","GO:0019932","second-messenger-mediated signaling","24/442","310/18870",{"v":3.37375357155109E-7,"d":"3.37E-07"},{"v":4.32065374063309e-05,"d":"4.32E-05"},{"v":3.35599697380608e-05,"d":"3.36E-05"},"ATP1A2/FPR1/PTGFR/THBS1/AKAP6/GUCY1B1/TMEM100/FPR2/AZU1/SGCD/AGTR1/CASQ2/DMD/RCAN2/ANK2/GUCY1A1/PLN/PDE7B/CAP2/ADCYAP1/CXCR1/IRAG1/SCTR/GIP",24]
["BP","GO:0007200","phospholipase C-activating G protein-coupled receptor signaling pathway","14/442","113/18870",{"v":4.04469188803654E-7,"d":"4.04E-07"},{"v":5.01280846252786e-05,"d":"5.01E-05"},{"v":3.89361680902668e-05,"d":"3.89E-05"},"FPR1/PTGER3/FPR2/AGTR1/GRPR/CALCA/PRKCB/HTR2A/GRP/CHGA/CHRM2/VIP/ACTN2/TACR1",14]
["BP","GO:0051952","regulation of amine transport","13/442","97/18870",{"v":4.18530825587227e-07,"d":"4.19E-07"},{"v":5.02498572470665e-05,"d":"5.02E-05"},{"v":3.90307529782825e-05,"d":"3.90E-05"},"ATP1A2/GDNF/RGS4/TACR2/PRKCB/HTR2A/CARTPT/CHGA/ADORA3/VIP/SYT4/CHRNA3/CNR1",13]
["BP","GO:0046883","regulation of hormone secretion","21/442","251/18870",{"v":5.21064691507561e-07,"d":"5.21E-07"},{"v":6.06645619627893e-05,"d":"6.07E-05"},{"v":4.71202041602531e-05,"d":"4.71E-05"},"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/AGTR1/PRKCB/CARTPT/GRP/RETN/CHGA/SCG5/SFRP1/RBP4/ADCYAP1/TACR1/GIP/CNR1",21]
["BP","GO:0050804","modulation of chemical synaptic transmission","31/442","489/18870",{"v":5.76089942898087e-07,"d":"5.76E-07"},{"v":6.50981635474838e-05,"d":"6.51E-05"},{"v":5.05639315206215E-5,"d":"5.06E-05"},"ATP1A2/SCGN/GUCY1B1/ROR2/RGS4/TACR2/SNAP25/MAP1B/PTPRD/PRKCB/HTR2A/GUCY1A1/LAMA2/RETN/P2RX1/TSHZ3/CALB2/ADORA3/BCHE/AKAP12/CHRM2/GRIK5/INA/SCTR/EPHA7/TACR1/SYT4/CHRNA3/GIP/CNR1/CHRDL1",31]
["BP","GO:0099177","regulation of trans-synaptic signaling","31/442","490/18870",{"v":6.01873587566604e-07,"d":"6.02E-07"},{"v":6.60685235265969e-05,"d":"6.61E-05"},{"v":5.13176427293631e-05,"d":"5.13E-05"},"ATP1A2/SCGN/GUCY1B1/ROR2/RGS4/TACR2/SNAP25/MAP1B/PTPRD/PRKCB/HTR2A/GUCY1A1/LAMA2/RETN/P2RX1/TSHZ3/CALB2/ADORA3/BCHE/AKAP12/CHRM2/GRIK5/INA/SCTR/EPHA7/TACR1/SYT4/CHRNA3/GIP/CNR1/CHRDL1",31]
["BP","GO:0042886","amide transport","25/442","354/18870",{"v":1.06291598648515E-6,"d":"1.06E-06"},1.11694078692058E-4,{"v":8.6756544862047e-05,"d":"8.68E-05"},"IL6/ATP1A2/ADCY5/KCNA5/AQP9/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/CARTPT/GRP/CPE/CHGA/AQP8/FOLR2/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/SYT4/GIP/CNR1",25]
["BP","GO:0006813","potassium ion transport","20/442","241/18870",{"v":1.10473060653259E-6,"d":"1.10E-06"},1.11694078692058E-4,{"v":8.6756544862047e-05,"d":"8.68E-05"},"ATP1A2/FLNA/KCNMB1/KCNA5/CAV1/AKAP6/KCNK3/RGS4/KCNE4/ABCC9/SNAP25/KCNN3/CASQ2/HTR2A/ANK2/GRP/KCNMA1/FHL1/VIP/ACTN2",20]
["BP","GO:0030072","peptide hormone secretion","20/442","241/18870",{"v":1.10473060653259E-6,"d":"1.10E-06"},1.11694078692058E-4,{"v":8.6756544862047e-05,"d":"8.68E-05"},"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/CARTPT/GRP/CPE/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/GIP/CNR1",20]
["BP","GO:0050432","catecholamine secretion","10/442","61/18870",{"v":1.39201647087503e-06,"d":"1.39E-06"},0.000137131468746202,1.06514620645903E-4,"GDNF/SLC18A2/PRKCB/HTR2A/CARTPT/CHGA/ADORA3/VIP/SYT4/CNR1",10]
["BP","GO:0002790","peptide secretion","20/442","246/18870",{"v":1.52161592428333e-06,"d":"1.52E-06"},0.000146151209527414,1.13520556456401E-4,"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/CARTPT/GRP/CPE/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/GIP/CNR1",20]
["BP","GO:0007188","adenylate cyclase-modulating G protein-coupled receptor signaling pathway","20/442","248/18870",{"v":1.72515476215914e-06,"d":"1.73E-06"},1.57948573830883E-4,1.22683965810174E-4,"FLNA/GLP2R/ADCY5/FPR1/PTGFR/PTGER3/VIPR2/FPR2/CALCA/CHGA/PLN/AKAP12/CHRM2/VIP/ADCYAP1/SCTR/GNAO1/NPY1R/GIP/CNR1",20]
["BP","GO:0035296","regulation of tube diameter","15/442","146/18870",{"v":1.78304166262475E-6,"d":"1.78E-06"},1.57948573830883E-4,1.22683965810174E-4,"ATP1A2/ACTA2/KCNMB1/KCNA5/CAV1/FGG/VSTM4/AGTR1/CALCA/HTR2A/NTS/GUCY1A1/P2RX1/KCNMA1/TACR1",15]
["BP","GO:0097746","blood vessel diameter maintenance","15/442","146/18870",{"v":1.78304166262475E-6,"d":"1.78E-06"},1.57948573830883E-4,1.22683965810174E-4,"ATP1A2/ACTA2/KCNMB1/KCNA5/CAV1/FGG/VSTM4/AGTR1/CALCA/HTR2A/NTS/GUCY1A1/P2RX1/KCNMA1/TACR1",15]
["BP","GO:0043267","negative regulation of potassium ion transport","8/442","37/18870",{"v":1.80888528072849E-6,"d":"1.81E-06"},1.57948573830883E-4,1.22683965810174E-4,"CAV1/RGS4/KCNE4/CASQ2/HTR2A/GRP/VIP/ACTN2",8]
["BP","GO:0035150","regulation of tube size","15/442","147/18870",{"v":1.94378390827694E-6,"d":"1.94E-06"},1.65955950568889E-4,1.28903564443628E-4,"ATP1A2/ACTA2/KCNMB1/KCNA5/CAV1/FGG/VSTM4/AGTR1/CALCA/HTR2A/NTS/GUCY1A1/P2RX1/KCNMA1/TACR1",15]
["BP","GO:0006935","chemotaxis","29/442","468/18870",{"v":2.11458882131553E-6,"d":"2.11E-06"},0.000176614135902049,1.37182135204337E-4,"IL6/FPR1/ELANE/THBS1/THBS4/GDNF/CTSG/FPR2/GREM1/AZU1/AGTR1/CALCA/FGF10/SERPIND1/RNASE2/CHGA/FLRT2/FGF2/VEGFD/TREM1/SLIT2/LBP/ITGA9/FGF7/CXCR1/SERPINE1/EPHA7/GPR183/PROK2",29]
["BP","GO:0042330","taxis","29/442","470/18870",{"v":2.30073007154783e-06,"d":"2.30E-06"},0.000188072445423122,1.46082189313283E-4,"IL6/FPR1/ELANE/THBS1/THBS4/GDNF/CTSG/FPR2/GREM1/AZU1/AGTR1/CALCA/FGF10/SERPIND1/RNASE2/CHGA/FLRT2/FGF2/VEGFD/TREM1/SLIT2/LBP/ITGA9/FGF7/CXCR1/SERPINE1/EPHA7/GPR183/PROK2",29]
["BP","GO:0048660","regulation of smooth muscle cell proliferation","16/442","171/18870",{"v":2.80434595470953e-06,"d":"2.80E-06"},2.24464524124876E-4,1.74349139947402E-4,"IL6/ELANE/THBS1/VIPR2/RBPMS2/OGN/CCN4/CNN1/NR4A3/PDE1A/MIR145/MYOCD/FGF2/VIP/DDR2/TACR1",16]
["BP","GO:0060485","mesenchyme development","23/442","327/18870",{"v":3.07363477675473e-06,"d":"3.07E-06"},2.40998057393707E-4,1.87191290915138E-4,"IL6/FLNA/ACTA2/ACTG2/TMEM100/GDNF/BNC2/GREM1/DACT3/NCAM1/FERMT2/HAND2/SFRP2/TNXB/ACTC1/MIR145/FGF10/EPHA3/SFRP1/PHLDB2/RBM24/NKX2-5/ZFPM2",23]
["BP","GO:0048659","smooth muscle cell proliferation","16/442","175/18870",{"v":3.79158948221516e-06,"d":"3.79E-06"},0.000287993886846866,0.000223694531140816,"IL6/ELANE/THBS1/VIPR2/RBPMS2/OGN/CCN4/CNN1/NR4A3/PDE1A/MIR145/MYOCD/FGF2/VIP/DDR2/TACR1",16]
["BP","GO:0071805","potassium ion transmembrane transport","18/442","217/18870",{"v":3.82292770150707e-06,"d":"3.82E-06"},0.000287993886846866,0.000223694531140816,"ATP1A2/FLNA/KCNMB1/KCNA5/CAV1/AKAP6/KCNK3/RGS4/KCNE4/ABCC9/SNAP25/KCNN3/CASQ2/ANK2/GRP/KCNMA1/FHL1/ACTN2",18]
["BP","GO:0031589","cell-substrate adhesion","24/442","356/18870",{"v":3.90999610261082e-06,"d":"3.91E-06"},0.000288888558196746,2.24389452447402E-4,"FLNA/FGL1/BVES/THBS1/FGG/LYVE1/GREM1/FERMT2/VTN/TNXB/CCDC80/MYOC/EPHA3/SFRP1/PHLDB2/ITGA9/ACTN2/SERPINE1/STON1/SORBS1/TNN/ABI3BP/COL8A1/LIMS2",24]
["BP","GO:0015833","peptide transport","20/442","262/18870",{"v":3.99889870680039e-06,"d":"4.00E-06"},0.00028988243078353,0.000225161426688761,"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/CARTPT/GRP/CPE/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/GIP/CNR1",20]
["BP","GO:0060538","skeletal muscle organ development","16/442","178/18870",{"v":4.72554861992859e-06,"d":"4.73E-06"},0.000336214033291956,0.000261148739522369,"BVES/CAV1/ANKRD1/CFL2/DES/MEOX2/HLF/SVIL/DMD/MYOM1/POPDC2/ASB2/DNER/MYOCD/RBM24/SMYD1",16]
["BP","GO:1901379","regulation of potassium ion transmembrane transport","11/442","86/18870",{"v":5.18524232392489e-06,"d":"5.19E-06"},0.000362212745609444,0.000281342813173724,"FLNA/KCNMB1/CAV1/AKAP6/RGS4/KCNE4/CASQ2/ANK2/GRP/FHL1/ACTN2",11]
["BP","GO:0050433","regulation of catecholamine secretion","9/442","56/18870",{"v":5.58603148713835e-06,"d":"5.59E-06"},0.000383241660242599,0.000297676677933031,"GDNF/PRKCB/HTR2A/CARTPT/CHGA/ADORA3/VIP/SYT4/CNR1",9]
["BP","GO:0042391","regulation of membrane potential","27/442","440/18870",{"v":5.70370548756791e-06,"d":"5.70E-06"},0.000384449762863788,0.000298615051842198,"ATP1A2/FLNA/KCNA5/BVES/CAV1/AKAP6/KCNK3/RGS4/KCNE4/ABCC9/CASQ2/DMD/ANK2/POPDC2/P2RX1/MYOC/KCNMA1/PLN/FHL1/GRIK5/ACTN2/HTR3A/TACR1/CHRNA3/CNR1/SEZ6/DCN",27]
["BP","GO:0033002","muscle cell proliferation","19/442","247/18870",{"v":6.2289129328805e-06,"d":"6.23E-06"},0.00041261178427805,0.000320489440375975,"IL6/ELANE/THBS1/VIPR2/RBPMS2/OGN/CCN4/CNN1/NR4A3/PDE1A/MIR145/MYOCD/FGF2/VIP/RBP4/DDR2/TACR1/NKX2-5/ZFPM2",19]
["BP","GO:0015844","monoamine transport","11/442","89/18870",{"v":7.2682589197497e-06,"d":"7.27E-06"},0.000473299165587769,0.000367627369089927,"GDNF/SLC18A2/PRKCB/HTR2A/CARTPT/P2RX1/CHGA/ADORA3/VIP/SYT4/CNR1",11]
["BP","GO:2000027","regulation of animal organ morphogenesis","13/442","126/18870",{"v":8.29348744557791e-06,"d":"8.29E-06"},0.000531059646098505,0.000412491875582691,"GDNF/GREM1/SFRP2/PAX9/PRKCB/PRICKLE2/FGF10/RSPO3/FGF2/SFRP1/GRHL3/FGF7/AR",13]
["BP","GO:0051480","regulation of cytosolic calcium ion concentration","9/442","59/18870",{"v":8.70743927634842e-06,"d":"8.71E-06"},0.000542993417443734,0.000421761236870322,"SCGN/CAV1/CALCA/TRPC1/TRPC4/P2RX1/CALB2/PLN/CNR1",9]
["BP","GO:0007519","skeletal muscle tissue development","15/442","166/18870",{"v":8.76251740799363e-06,"d":"8.76E-06"},0.000542993417443734,0.000421761236870322,"BVES/CAV1/ANKRD1/CFL2/MEOX2/HLF/SVIL/DMD/MYOM1/POPDC2/ASB2/DNER/MYOCD/RBM24/SMYD1",15]
["BP","GO:0090288","negative regulation of cellular response to growth factor stimulus","13/442","127/18870",{"v":9.04583071707357e-06,"d":"9.05E-06"},0.000551652089126931,4.28486718177169E-4,"THBS1/CHRDL2/GREM1/RBPMS2/FBN1/SFRP2/GREM2/FGF2/SLIT2/SFRP1/DCN/CHRDL1/SHISA2",13]
["BP","GO:0071692","protein localization to extracellular region","24/442","377/18870",{"v":1.02971960632911e-05,"d":"1.03E-05"},0.000614388564257739,0.000477216246930242,"IL6/CD33/ADCY5/KCNA5/ANKRD1/PCSK1/FGG/NR1H4/NNAT/TACR2/FBN1/SNAP25/PRKCB/MYOM1/CARTPT/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/SYT4/GIP/CNR1",24]
["BP","GO:0007218","neuropeptide signaling pathway","12/442","110/18870",{"v":1.03943926800503E-5,"d":"1.04E-05"},0.000614388564257739,0.000477216246930242,"GRPR/CALCA/NTS/CARTPT/GRP/CPE/NPY/TAC1/SCG5/ADCYAP1/NPY1R/PROK2",12]
["BP","GO:0051937","catecholamine transport","10/442","76/18870",{"v":1.07752081711527E-5,"d":"1.08E-05"},0.000627247724144983,0.000487204388599969,"GDNF/SLC18A2/PRKCB/HTR2A/CARTPT/CHGA/ADORA3/VIP/SYT4/CNR1",10]
["BP","GO:0016055","Wnt signaling pathway","27/442","459/18870",{"v":1.22705776505082e-05,"d":"1.23E-05"},0.00070363521392914,0.00054653711923316,"CAV1/APCDD1L/CDK14/GREM1/RECK/DACT3/CCN4/FERMT2/SFRP2/RSPO1/MIR145/PRICKLE2/FGF10/CPE/BICC1/MYOC/RSPO3/FGF2/SFRP1/GRHL3/SHISA3/RBMS3/TNN/NKX2-5/GLI3/BARX1/SHISA2",27]
["BP","GO:0198738","cell-cell signaling by wnt","27/442","461/18870",{"v":1.32622375720285e-05,"d":"1.33E-05"},0.000749316422819608,0.00058201924948453,"CAV1/APCDD1L/CDK14/GREM1/RECK/DACT3/CCN4/FERMT2/SFRP2/RSPO1/MIR145/PRICKLE2/FGF10/CPE/BICC1/MYOC/RSPO3/FGF2/SFRP1/GRHL3/SHISA3/RBMS3/TNN/NKX2-5/GLI3/BARX1/SHISA2",27]
["BP","GO:0007204","positive regulation of cytosolic calcium ion concentration","15/442","173/18870",{"v":1.44146666392925e-05,"d":"1.44E-05"},0.00078650788460438,0.000610907107825808,"ADCY5/FPR1/PTGFR/PTGER3/CAV1/FPR2/AGTR1/JPH2/CALCA/HTR2A/TAC1/ADCYAP1/CXCR1/TACR1/PROK2",15]
["BP","GO:1903034","regulation of response to wounding","15/442","173/18870",{"v":1.44146666392925e-05,"d":"1.44E-05"},0.00078650788460438,0.000610907107825808,"FLNA/CAV1/THBS1/MYLK/FGG/CCN4/FERMT2/VTN/MMRN1/FGF2/FAP/PHLDB2/SERPINE1/DDR2/RGMA",15]
["BP","GO:0007160","cell-matrix adhesion","18/442","239/18870",{"v":1.45346329533865E-5,"d":"1.45E-05"},0.00078650788460438,0.000610907107825808,"FGL1/THBS1/FGG/LYVE1/GREM1/FERMT2/VTN/TNXB/MYOC/EPHA3/SFRP1/PHLDB2/ITGA9/ACTN2/SERPINE1/STON1/SORBS1/TNN",18]
["BP","GO:0061041","regulation of wound healing","13/442","133/18870",{"v":1.49565415708107e-05,"d":"1.50E-05"},0.00079258607572592,0.000615628243152685,"CAV1/THBS1/MYLK/FGG/CCN4/FERMT2/VTN/MMRN1/FGF2/FAP/PHLDB2/SERPINE1/DDR2",13]
["BP","GO:0090276","regulation of peptide hormone secretion","16/442","195/18870",{"v":1.50595480291494e-05,"d":"1.51E-05"},0.00079258607572592,0.000615628243152685,"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/SNAP25/PRKCB/CARTPT/GRP/CHGA/SFRP1/RBP4/ADCYAP1/GIP/CNR1",16]
["BP","GO:0014706","striated muscle tissue development","19/442","264/18870",{"v":1.60585274516619e-05,"d":"1.61E-05"},0.000826278862717437,0.00064179856319459,"MYH11/BVES/AKAP6/ANKRD1/GREM1/PGM5/SGCD/RGS4/PI16/JPH2/ACTC1/ASB2/PLN/MYOCD/FGF2/RBP4/ACTN2/NKX2-5/ZFPM2",19]
["BP","GO:1903532","positive regulation of secretion by cell","20/442","288/18870",{"v":1.62630808926358e-05,"d":"1.63E-05"},0.000826278862717437,0.00064179856319459,"CD33/ANKRD1/GDNF/PCSK1/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/MYOM1/CARTPT/GRP/RETN/VIP/RBP4/ADCYAP1/TACR1/SYT4/GIP",20]
["BP","GO:0061337","cardiac conduction","11/442","97/18870",{"v":1.67402629804475E-5,"d":"1.67E-05"},0.000826278862717437,0.00064179856319459,"ATP1A2/FLNA/KCNA5/CAV1/KCNE4/ABCC9/CASQ2/TRPC1/ANK2/PLN/NKX2-5",11]
["BP","GO:0010763","positive regulation of fibroblast migration","5/442","15/18870",{"v":1.70499973000451E-5,"d":"1.70E-05"},0.000826278862717437,0.00064179856319459,"ACTA2/THBS1/MIR145/AKAP12/DDR2",5]
["BP","GO:0030111","regulation of Wnt signaling pathway","22/442","338/18870",{"v":1.7074193071618e-05,"d":"1.71E-05"},0.000826278862717437,0.00064179856319459,"CAV1/APCDD1L/CDK14/GREM1/RECK/DACT3/CCN4/SFRP2/RSPO1/MIR145/FGF10/BICC1/RSPO3/FGF2/SFRP1/SHISA3/RBMS3/TNN/NKX2-5/GLI3/BARX1/SHISA2",22]
["BP","GO:0016486","peptide hormone processing","7/442","36/18870",{"v":1.7107512302513E-5,"d":"1.71E-05"},0.000826278862717437,0.00064179856319459,"CTSG/PCSK1/CPA3/CMA1/CPE/BCHE/SCG5",7]
["BP","GO:0097529","myeloid leukocyte migration","18/442","242/18870",{"v":1.7205181941019e-05,"d":"1.72E-05"},0.000826278862717437,0.00064179856319459,"IL6/THBS1/THBS4/CTSG/FPR2/GREM1/AZU1/ROR2/CALCA/CHGA/VEGFD/TREM1/SLIT2/LBP/ITGA9/CXCR1/SERPINE1/PRTN3",18]
["BP","GO:0050708","regulation of protein secretion","19/442","266/18870",{"v":1.78478782095969e-05,"d":"1.78E-05"},0.000846562321991002,0.00065755340772199,"IL6/CD33/ADCY5/KCNA5/ANKRD1/PCSK1/FGG/NR1H4/NNAT/SNAP25/PRKCB/MYOM1/CARTPT/CHGA/SFRP1/RBP4/SYT4/GIP/CNR1",19]
["BP","GO:0002791","regulation of peptide secretion","16/442","198/18870",{"v":1.82137655113138e-05,"d":"1.82E-05"},0.000853381549932534,0.000662850131252564,"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/SNAP25/PRKCB/CARTPT/GRP/CHGA/SFRP1/RBP4/ADCYAP1/GIP/CNR1",16]
["BP","GO:0090087","regulation of peptide transport","16/442","200/18870",{"v":2.06299889116189e-05,"d":"2.06E-05"},0.00095494478793301,0.000741737711660617,"IL6/ADCY5/KCNA5/FGG/NR1H4/NNAT/SNAP25/PRKCB/CARTPT/GRP/CHGA/SFRP1/RBP4/ADCYAP1/GIP/CNR1",16]
["BP","GO:0009306","protein secretion","23/442","368/18870",{"v":2.10585569786921e-05,"d":"2.11E-05"},0.000963178284668276,0.000748132945295642,"IL6/CD33/ADCY5/KCNA5/ANKRD1/PCSK1/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/MYOM1/CARTPT/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/SYT4/GIP/CNR1",23]
["BP","GO:0035592","establishment of protein localization to extracellular region","23/442","369/18870",{"v":2.19803862656405e-05,"d":"2.20E-05"},0.00099351345920695,0.000771695294898957,"IL6/CD33/ADCY5/KCNA5/ANKRD1/PCSK1/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/MYOM1/CARTPT/CHGA/VIP/PTPRN/SFRP1/RBP4/ADCYAP1/SYT4/GIP/CNR1",23]
["BP","GO:0048738","cardiac muscle tissue development","18/442","247/18870",{"v":2.26414971778909E-5,"d":"2.26E-05"},0.00101149572276113,0.000785662723369898,"MYH11/BVES/AKAP6/ANKRD1/GREM1/SGCD/RGS4/PI16/JPH2/ACTC1/ASB2/PLN/MYOCD/FGF2/RBP4/ACTN2/NKX2-5/ZFPM2",18]
["BP","GO:0019935","cyclic-nucleotide-mediated signaling","10/442","83/18870",{"v":2.3733148039987e-05,"d":"2.37E-05"},0.00103697480654144,0.000805453184072165,"THBS1/AKAP6/GUCY1B1/GUCY1A1/PDE7B/CAP2/ADCYAP1/IRAG1/SCTR/GIP",10]
["BP","GO:0045444","fat cell differentiation","18/442","248/18870",{"v":2.38967162202974e-05,"d":"2.39E-05"},0.00103697480654144,0.000805453184072165,"IL6/RUNX1T1/LMO3/FABP4/CCN4/FERMT2/SFRP2/ZBTB16/NR4A3/HTR2A/FGF10/RETN/SFRP1/TPH1/ZFPM2/SLC2A4/MEDAG/CLIP3",18]
["BP","GO:0060048","cardiac muscle contraction","13/442","139/18870",{"v":2.40215402868789e-05,"d":"2.40E-05"},0.00103697480654144,0.000805453184072165,"ATP1A2/FLNA/KCNA5/CAV1/SGCD/KCNE4/ABCC9/CASQ2/DMD/ANK2/CHGA/PLN/NKX2-5",13]
["BP","GO:0060306","regulation of membrane repolarization","7/442","38/18870",{"v":2.48393673631731e-05,"d":"2.48E-05"},1.05766877776847E-3,0.000821526887030769,"FLNA/KCNA5/CAV1/AKAP6/KCNE4/CASQ2/ANK2",7]
["BP","GO:0010959","regulation of metal ion transport","24/442","398/18870",{"v":2.50514989008148E-5,"d":"2.51E-05"},1.05766877776847E-3,0.000821526887030769,"ATP1A2/CD33/FLNA/KCNMB1/KCNA5/MS4A1/CAV1/AKAP6/MYLK/RGS4/KCNE4/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/GRP/P2RX1/PLN/FHL1/VIP/ACTN2/NKX2-5",24]
["BP","GO:0048041","focal adhesion assembly","10/442","85/18870",{"v":2.92878742963427E-5,"d":"2.93E-05"},0.00121259168727899,0.000941860717673342,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2/ACTN2/STON1/SORBS1",10]
["BP","GO:0010762","regulation of fibroblast migration","7/442","39/18870",{"v":2.96677820417035e-05,"d":"2.97E-05"},0.00121259168727899,0.000941860717673342,"ACTA2/THBS1/MIR145/HAS1/AKAP12/FGF2/DDR2",7]
["BP","GO:0140448","signaling receptor ligand precursor processing","7/442","39/18870",{"v":2.96677820417035e-05,"d":"2.97E-05"},0.00121259168727899,0.000941860717673342,"CTSG/PCSK1/CPA3/CMA1/CPE/BCHE/SCG5",7]
["BP","GO:0051216","cartilage development","16/442","207/18870",{"v":3.14810900748945e-05,"d":"3.15E-05"},1.27316155860784E-3,0.000988907372435745,"BMP3/NKX3-2/CHRDL2/GREM1/OGN/CCN4/HAND2/SFRP2/ZBTB16/EFEMP1/SNORC/ZEB1/FGF2/EPYC/GHR/GLI3",16]
["BP","GO:0055013","cardiac muscle cell development","10/442","86/18870",{"v":3.24592732400819e-05,"d":"3.25E-05"},1.29904716446244E-3,1.00901359249597E-3,"MYH11/BVES/AKAP6/SGCD/RGS4/PI16/ACTC1/ASB2/ACTN2/NKX2-5",10]
["BP","GO:0007599","hemostasis","17/442","231/18870",{"v":3.36160835505123e-05,"d":"3.36E-05"},1.33147415465019E-3,0.00103420072561804,"IL6/FLNA/FGL1/CAV1/THBS1/CTSG/FGG/VTN/MMRN1/TFPI2/SERPIND1/P2RX1/MYL9/FAP/F13A1/SERPINE1/TPH1",17]
["BP","GO:0010761","fibroblast migration","8/442","54/18870",{"v":3.44122086727739E-5,"d":"3.44E-05"},0.00133547177495755,1.03730581166735E-3,"ACTA2/THBS1/MIR145/TNS1/HAS1/AKAP12/FGF2/DDR2",8]
["BP","GO:0086009","membrane repolarization","8/442","54/18870",{"v":3.44122086727739E-5,"d":"3.44E-05"},0.00133547177495755,1.03730581166735E-3,"ATP1A2/FLNA/KCNA5/CAV1/AKAP6/KCNE4/CASQ2/ANK2",8]
["BP","GO:0035051","cardiocyte differentiation","14/442","165/18870",{"v":3.52521437420642e-05,"d":"3.53E-05"},0.00134904538002456,1.04784888692009E-3,"MYH11/BVES/AKAP6/GREM1/SGCD/RGS4/PI16/HAND2/ACTC1/MIR145/ASB2/MYOCD/ACTN2/NKX2-5",14]
["BP","GO:0070252","actin-mediated cell contraction","11/442","105/18870",{"v":3.54642330511402e-05,"d":"3.55E-05"},0.00134904538002456,1.04784888692009E-3,"ATP1A2/FLNA/ACTA2/KCNA5/CAV1/SGCD/KCNE4/ABCC9/ACTC1/ANK2/PLN",11]
["BP","GO:0048608","reproductive structure development","20/442","305/18870",{"v":3.69558163693695e-05,"d":"3.70E-05"},0.00139200241657958,0.00108121506096143,"FLNA/TEX11/TNC/ROR2/CYP1B1/PTX3/SFRP2/AFP/FGF10/RETN/MYOCD/GREB1L/SLIT2/PTPRN/SFRP1/RBP4/AR/CGA/ZFPM2/GFRA1",20]
["BP","GO:0055074","calcium ion homeostasis","21/442","331/18870",{"v":3.85123571103515e-05,"d":"3.85E-05"},0.00143654831085408,1.11581535419363E-3,"ATP1A2/FLNA/SCGN/ELANE/CAV1/AKAP6/SGCD/CASQ2/DMD/JPH2/CALCA/TRPC1/TRPC4/PRKCB/HTR2A/ANK2/P2RX1/CALB2/PLN/FGF2/CNR1",21]
["BP","GO:0090287","regulation of cellular response to growth factor stimulus","22/442","357/18870",{"v":3.92637280630908E-5,"d":"3.93E-05"},1.4504927232538E-3,0.00112664644796419,"THBS1/CHRDL2/GREM1/RBPMS2/FBN1/VTN/SFRP2/TNXB/PRKCB/FGF10/ZEB1/CILP/GREM2/MYOCD/FGF2/ASPN/SLIT2/SFRP1/RGMA/DCN/CHRDL1/SHISA2",22]
["BP","GO:0006874","intracellular calcium ion homeostasis","20/442","308/18870",{"v":4.24146741926155e-05,"d":"4.24E-05"},0.0015519731261717,0.0012054696875796,"ATP1A2/FLNA/SCGN/ELANE/CAV1/AKAP6/CASQ2/DMD/JPH2/CALCA/TRPC1/TRPC4/PRKCB/HTR2A/ANK2/P2RX1/CALB2/PLN/FGF2/CNR1",20]
["BP","GO:0050829","defense response to Gram-negative bacterium","10/442","89/18870",{"v":4.37951887891643e-05,"d":"4.38E-05"},1.58736901252801E-3,0.00123296286213784,"IL6/LYPD8/ELANE/CTSG/AZU1/CHGA/TREM1/SSC5D/LBP/SERPINE1",10]
["BP","GO:0061458","reproductive system development","20/442","309/18870",{"v":4.43879734477589e-05,"d":"4.44E-05"},0.00159381863538589,0.00123797250097783,"FLNA/TEX11/TNC/ROR2/CYP1B1/PTX3/SFRP2/AFP/FGF10/RETN/MYOCD/GREB1L/SLIT2/PTPRN/SFRP1/RBP4/AR/CGA/ZFPM2/GFRA1",20]
["BP","GO:0046851","negative regulation of bone remodeling","5/442","18/18870",{"v":4.58987762341082E-5,"d":"4.59E-05"},0.00163280646566152,1.26825565910036E-3,"IL6/GREM1/CALCA/CARTPT/SFRP1",5]
["BP","GO:0051047","positive regulation of secretion","20/442","310/18870",{"v":4.64427537961377e-05,"d":"4.64E-05"},1.63700055123634E-3,0.00127151334632593,"CD33/ANKRD1/GDNF/PCSK1/FGG/NR1H4/NNAT/TACR2/SNAP25/PRKCB/MYOM1/CARTPT/GRP/RETN/VIP/RBP4/ADCYAP1/TACR1/SYT4/GIP",20]
["BP","GO:0060828","regulation of canonical Wnt signaling pathway","18/442","262/18870",{"v":4.92745309106796e-05,"d":"4.93E-05"},0.00172102497962574,0.00133677794384475,"CAV1/CDK14/GREM1/RECK/DACT3/SFRP2/RSPO1/MIR145/FGF10/BICC1/RSPO3/FGF2/SFRP1/SHISA3/RBMS3/TNN/NKX2-5/GLI3",18]
["BP","GO:1901016","regulation of potassium ion transmembrane transporter activity","8/442","57/18870",{"v":5.14021210495605e-05,"d":"5.14E-05"},1.77916170335506E-3,0.0013819346910906,"CAV1/AKAP6/KCNE4/CASQ2/ANK2/GRP/FHL1/ACTN2",8]
["BP","GO:0001503","ossification","25/442","444/18870",{"v":5.26783308603746e-05,"d":"5.27E-05"},1.80705488540678E-3,0.00140360026305603,"IL6/BMP3/CHRDL2/TNC/GREM1/ROR2/CCN4/FERMT2/HAND2/SFRP2/ZBTB16/CALCA/TWIST2/MYOC/MMP16/FGF2/ASPN/SFRP1/AHSG/DDR2/TPH1/TNN/TACR1/GLI3/CHRDL1",25]
["BP","GO:0030595","leukocyte chemotaxis","17/442","240/18870",{"v":5.43730920524865e-05,"d":"5.44E-05"},1.84868512978454E-3,1.43593587302095E-3,"IL6/THBS1/THBS4/CTSG/FPR2/GREM1/AZU1/CALCA/CHGA/VEGFD/TREM1/SLIT2/LBP/ITGA9/CXCR1/SERPINE1/GPR183",17]
["BP","GO:0099550","trans-synaptic signaling, modulating synaptic transmission","4/442","10/18870",{"v":5.57555300219951e-05,"d":"5.58E-05"},0.00187905917846057,1.45952841747328E-3,"GUCY1B1/GUCY1A1/SYT4/CNR1",4]
["BP","GO:1901380","negative regulation of potassium ion transmembrane transport","6/442","30/18870",{"v":5.88089877501183E-5,"d":"5.88E-05"},0.00196460733639805,0.00152597654694334,"CAV1/RGS4/KCNE4/CASQ2/GRP/ACTN2",6]
["BP","GO:0030178","negative regulation of Wnt signaling pathway","14/442","173/18870",{"v":5.93166192145169E-5,"d":"5.93E-05"},0.00196460733639805,0.00152597654694334,"CAV1/APCDD1L/GREM1/DACT3/SFRP2/BICC1/SFRP1/SHISA3/RBMS3/TNN/NKX2-5/GLI3/BARX1/SHISA2",14]
["BP","GO:0055007","cardiac muscle cell differentiation","12/442","131/18870",{"v":6.0274583389407E-5,"d":"6.03E-05"},1.97927307164189E-3,1.53736791640998E-3,"MYH11/BVES/AKAP6/GREM1/SGCD/RGS4/PI16/ACTC1/ASB2/MYOCD/ACTN2/NKX2-5",12]
["BP","GO:0007620","copulation","5/442","19/18870",{"v":6.10970433959277e-05,"d":"6.11E-05"},0.00198927831124707,1.54513932227881E-3,"P2RX1/TAC1/VIP/TACR1/CNR1",5]
["BP","GO:0055006","cardiac cell development","10/442","93/18870",{"v":6.40346219639352e-05,"d":"6.40E-05"},0.00206740350912134,0.00160582178918847,"MYH11/BVES/AKAP6/SGCD/RGS4/PI16/ACTC1/ASB2/ACTN2/NKX2-5",10]
["BP","GO:0050900","leukocyte migration","23/442","396/18870",{"v":6.55196744187891e-05,"d":"6.55E-05"},0.0020913566886074,1.62442702874106E-3,"IL6/ELANE/THBS1/THBS4/CTSG/LYVE1/FPR2/GREM1/AZU1/ROR2/CALCA/ASB2/CHGA/VEGFD/TREM1/SLIT2/LBP/ITGA9/CXCR1/SERPINE1/PRTN3/TACR1/GPR183",23]
["BP","GO:0042060","wound healing","24/442","423/18870",{"v":6.58652158567141e-05,"d":"6.59E-05"},0.0020913566886074,1.62442702874106E-3,"IL6/FLNA/FGL1/CAV1/THBS1/CTSG/MYLK/FGG/CCN4/FERMT2/VTN/MMRN1/TFPI2/FGF10/SERPIND1/P2RX1/MYL9/FGF2/FAP/GRHL3/PHLDB2/F13A1/SERPINE1/DDR2",24]
["BP","GO:0086003","cardiac muscle cell contraction","9/442","76/18870",{"v":6.94969019896087e-05,"d":"6.95E-05"},0.00218272986952461,1.69539964933348E-3,"ATP1A2/FLNA/KCNA5/CAV1/SGCD/KCNE4/ABCC9/ANK2/PLN",9]
["BP","GO:0043271","negative regulation of monoatomic ion transport","12/442","133/18870",{"v":6.98791707317874e-05,"d":"6.99E-05"},0.00218272986952461,1.69539964933348E-3,"ATP1A2/CD33/CAV1/RGS4/KCNE4/CASQ2/HTR2A/GRP/PLN/VIP/ACTN2/CNR1",12]
["BP","GO:0010880","regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum","6/442","31/18870",{"v":7.14921472383482e-05,"d":"7.15E-05"},0.00221510346523979,1.72054530917417E-3,"ATP1A2/AKAP6/CASQ2/DMD/ANK2/PLN",6]
["BP","GO:0030073","insulin secretion","15/442","199/18870",{"v":7.36743381164431e-05,"d":"7.37E-05"},0.002264454456347,1.7588778826115E-3,"IL6/ADCY5/KCNA5/NR1H4/NNAT/SNAP25/PRKCB/CARTPT/CHGA/PTPRN/SFRP1/RBP4/ADCYAP1/GIP/CNR1",15]
["BP","GO:0007044","cell-substrate junction assembly","10/442","95/18870",{"v":7.68295959270057e-05,"d":"7.68E-05"},0.00234269291707584,1.81964832458698E-3,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2/ACTN2/STON1/SORBS1",10]
["BP","GO:0007596","blood coagulation","16/442","224/18870",{"v":8.11677757174128e-05,"d":"8.12E-05"},0.00245548499453779,1.9072577219964E-3,"IL6/FLNA/FGL1/CAV1/THBS1/CTSG/FGG/VTN/MMRN1/TFPI2/SERPIND1/P2RX1/MYL9/FAP/F13A1/SERPINE1",16]
["BP","GO:0070944","neutrophil-mediated killing of bacterium","4/442","11/18870",{"v":8.59958875598143e-05,"d":"8.60E-05"},0.00256920779167126,0.00199559004065537,"ELANE/CTSG/AZU1/TREM1",4]
["BP","GO:0035590","purinergic nucleotide receptor signaling pathway","6/442","32/18870",{"v":8.62643948791236e-05,"d":"8.63E-05"},0.00256920779167126,0.00199559004065537,"ADCY5/CTSG/GPR34/P2RX1/ADORA3/P2RY14",6]
["BP","GO:0001763","morphogenesis of a branching structure","15/442","203/18870",{"v":9.22229919523686e-05,"d":"9.22E-05"},0.00272554411600769,0.00211702171809688,"GDNF/TNC/GREM1/SFRP2/FGF10/ADAMTS16/RSPO3/FGF2/GREB1L/SLIT2/SFRP1/FGF7/EPHA7/AR/GLI3",15]
["BP","GO:1901342","regulation of vasculature development","21/442","354/18870",1.00599246096756E-4,0.0029503992633873,0.00229167426825474,"IL6/AKT3/THBS1/THBS4/ISM1/GREM1/RECK/CMA1/PTGIS/CYP1B1/SFRP2/HSPB6/PRKCB/MIR145/ANGPTL7/FGF2/VEGFD/SFRP1/SERPINE1/TNN/DCN",21]
["BP","GO:0034104","negative regulation of tissue remodeling","5/442","21/18870",1.02863042003669E-4,2.97361945797698E-3,0.00230971017380332,"IL6/GREM1/CALCA/CARTPT/SFRP1",5]
["BP","GO:0097553","calcium ion transmembrane import into cytosol","15/442","205/18870",0.000102938934906543,2.97361945797698E-3,0.00230971017380332,"ATP1A2/FLNA/MS4A1/CAV1/AKAP6/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/P2RX1/PLN/FGF2/SCN7A",15]
["BP","GO:0050817","coagulation","16/442","229/18870",0.00010517570742441,0.00301556020839241,0.00234228696424353,"IL6/FLNA/FGL1/CAV1/THBS1/CTSG/FGG/VTN/MMRN1/TFPI2/SERPIND1/P2RX1/MYL9/FAP/F13A1/SERPINE1",16]
["BP","GO:0048771","tissue remodeling","14/442","184/18870",1.15156577182058E-4,0.00327727088543309,0.00254556644297181,"IL6/FLNA/CAV1/THBS4/GREM1/HAND2/CALCA/FGF10/CARTPT/RSPO3/SFRP1/DDR2/TPH1/NPR3",14]
["BP","GO:0006953","acute-phase response","7/442","48/18870",1.18454423180925E-4,0.00334633745486112,0.00259921276871456,"IL6/PTGER3/HP/SERPINA3/AHSG/LBP/CNR1",7]
["BP","GO:0019229","regulation of vasoconstriction","8/442","64/18870",1.19359333433435E-4,0.00334728875219897,0.00259995167332915,"ATP1A2/KCNA5/CAV1/FGG/AGTR1/HTR2A/P2RX1/TACR1",8]
["BP","GO:0048265","response to pain","6/442","34/18870",1.23057161706714E-4,0.00342598271939996,0.00266107592249073,"AQP9/THBS1/THBS4/CALCA/TAC1/TACR1",6]
["BP","GO:0051051","negative regulation of transport","25/442","469/18870",1.25571337669341E-4,0.00347082790881733,2.69590868831944E-3,"ATP1A2/CD33/PTGER3/CAV1/THBS1/RGS4/TACR2/KCNE4/CASQ2/MAP1B/PRKCB/HTR2A/MIR145/CRYAB/CARTPT/GRP/CHGA/PLN/VIP/EPHA3/SFRP1/ACTN2/PRTN3/SYT4/CNR1",25]
["BP","GO:0070943","neutrophil-mediated killing of symbiont cell","4/442","12/18870",0.000126610672862892,0.00347455860813735,2.6988064478669E-3,"ELANE/CTSG/AZU1/TREM1",4]
["BP","GO:0015850","organic hydroxy compound transport","19/442","308/18870",0.00012900659091595,0.00349423641152137,0.00271409085910931,"AQP9/CAV1/GDNF/AGTR1/SLC18A2/PRKCB/HTR2A/MIR145/CARTPT/P2RX1/CHGA/ADORA3/VIP/PNLIP/RBP4/ABCA8/APOB/SYT4/CNR1",19]
["BP","GO:0006941","striated muscle contraction","14/442","186/18870",1.29146686735043E-4,0.00349423641152137,0.00271409085910931,"ATP1A2/FLNA/SYNM/KCNA5/CAV1/SGCD/KCNE4/ABCC9/CASQ2/DMD/ANK2/CHGA/PLN/NKX2-5",14]
["BP","GO:0010881","regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion","5/442","22/18870",1.30569205871001E-4,0.00350802020249221,0.00272479719281773,"ATP1A2/CASQ2/DMD/ANK2/PLN",5]
["BP","GO:0030199","collagen fibril organization","8/442","65/18870",1.33365220381621E-4,0.00355825817157076,0.00276381871185597,"GREM1/CYP1B1/COL14A1/SFRP2/TNXB/DPT/LUM/DDR2",8]
["BP","GO:0061138","morphogenesis of a branching epithelium","14/442","187/18870",1.36677632279883E-4,0.00362148595323662,0.00281292985490721,"GDNF/TNC/GREM1/SFRP2/FGF10/ADAMTS16/RSPO3/FGF2/GREB1L/SLIT2/SFRP1/FGF7/AR/GLI3",14]
["BP","GO:0042310","vasoconstriction","9/442","83/18870",1.388144550237E-4,3.63582855275652E-3,0.00282407023399675,"ATP1A2/ACTA2/KCNA5/CAV1/FGG/AGTR1/HTR2A/P2RX1/TACR1",9]
["BP","GO:0002027","regulation of heart rate","10/442","102/18870",0.000140057945290985,3.63582855275652E-3,0.00282407023399675,"KCNA5/BVES/CAV1/RGS4/KCNE4/CASQ2/DMD/ANK2/POPDC2/PLN",10]
["BP","GO:0150115","cell-substrate junction organization","10/442","102/18870",0.000140057945290985,3.63582855275652E-3,0.00282407023399675,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2/ACTN2/STON1/SORBS1",10]
["BP","GO:0050796","regulation of insulin secretion","13/442","165/18870",1.41632318691504E-4,0.00365202260679703,0.00283664870003824,"IL6/ADCY5/KCNA5/NR1H4/NNAT/SNAP25/PRKCB/CARTPT/CHGA/SFRP1/RBP4/GIP/CNR1",13]
["BP","GO:0061448","connective tissue development","18/442","285/18870",1.44020757721807E-4,0.00368885167444789,2.86525507467596E-3,"BMP3/ACTA2/NKX3-2/CHRDL2/GREM1/NR1H4/OGN/CCN4/HAND2/SFRP2/ZBTB16/EFEMP1/SNORC/ZEB1/FGF2/EPYC/GHR/GLI3",18]
["BP","GO:0034329","cell junction assembly","24/442","446/18870",0.00014819975491023,0.00377075137990135,0.00292886932848032,"MPDZ/CAV1/THBS1/GREM1/NR1H4/CDH19/FERMT2/SNAP25/GAP43/MAP1B/PTPRD/ANK2/MYOC/DNER/FLRT2/EPHA3/SFRP1/PHLDB2/ACTN2/STON1/NEGR1/SORBS1/NPTX1/EPHA7",24]
["BP","GO:0001823","mesonephros development","10/442","103/18870",0.000151934676641909,3.82457104640373E-3,0.00297067287228542,"GDNF/GREM1/ZBTB16/FGF10/ADAMTS16/FGF2/GREB1L/SLIT2/SFRP1/GLI3",10]
["BP","GO:0048678","response to axon injury","9/442","84/18870",0.000152305926626697,3.82457104640373E-3,0.00297067287228542,"FLNA/PCSK1/TNC/GAP43/MAP1B/DPYSL3/FGF2/RGMA/GIP",9]
["BP","GO:0050878","regulation of body fluid levels","21/442","365/18870",0.000153925891944789,0.00384015114838884,2.98277446113109E-3,"IL6/FLNA/FGL1/CAV1/THBS1/CTSG/FGG/VTN/MMRN1/TFPI2/CDO1/FGF10/SERPIND1/P2RX1/MYL9/FAP/VIP/F13A1/SERPINE1/TPH1/NPR3",21]
["BP","GO:0007548","sex differentiation","18/442","288/18870",0.000164061501974482,4.06660832636104E-3,0.00315867136229309,"FLNA/TEX11/ROR2/CYP1B1/PTX3/SFRP2/AFP/FGF10/RETN/GREB1L/SLIT2/PTPRN/SFRP1/RBP4/AR/CGA/ZFPM2/GFRA1",18]
["BP","GO:0043270","positive regulation of monoatomic ion transport","15/442","214/18870",1.65731344239513E-4,0.00408166554210391,0.00317036680782064,"FLNA/KCNMB1/MS4A1/CAV1/AKAP6/MYLK/TACR2/DMD/JPH2/TRPC1/ANK2/P2RX1/FHL1/ACTN2/NKX2-5",15]
["BP","GO:0001508","action potential","12/442","146/18870",0.000170689564413212,0.00408797982322147,0.00317527132218221,"ATP1A2/FLNA/KCNA5/CAV1/AKAP6/KCNE4/ABCC9/DMD/ANK2/P2RX1/TACR1/CNR1",12]
["BP","GO:0045598","regulation of fat cell differentiation","12/442","146/18870",0.000170689564413212,0.00408797982322147,0.00317527132218221,"IL6/RUNX1T1/LMO3/CCN4/FERMT2/SFRP2/ZBTB16/HTR2A/SFRP1/TPH1/ZFPM2/MEDAG",12]
["BP","GO:0055123","digestive system development","12/442","146/18870",0.000170689564413212,0.00408797982322147,0.00317527132218221,"NKX3-2/RBPMS2/SFRP2/FGF10/NPY/CLMP/MYOCD/SFRP1/GIP/ASCL1/GLI3/BARX1",12]
["BP","GO:0014808","release of sequestered calcium ion into cytosol by sarcoplasmic reticulum","6/442","36/18870",0.000171307847875756,0.00408797982322147,0.00317527132218221,"ATP1A2/AKAP6/CASQ2/DMD/ANK2/PLN",6]
["BP","GO:0071711","basement membrane organization","6/442","36/18870",0.000171307847875756,0.00408797982322147,0.00317527132218221,"CAV1/CMA1/LAMA2/FLRT2/PHLDB2/HMCN1",6]
["BP","GO:0060348","bone development","15/442","215/18870",0.000174424743226299,4.13666582392248E-3,0.0032130873752213,"PAPPA2/BNC2/GREM1/OGN/CCN4/FBN1/ZBTB16/SP5/MYOC/MMP16/EPYC/DDR2/GHR/TNN/GLI3",15]
["BP","GO:0050673","epithelial cell proliferation","25/442","480/18870",0.000179640671093448,0.00423422980577317,0.00328886859896626,"IL6/AKT3/FGL1/CAV1/THBS1/THBS4/VSTM4/AGTR1/SFRP2/NR4A3/FGF10/ZEB1/FGF2/VEGFD/FAP/VIP/PTPRN/SFRP1/FGF7/AR/COL8A1/TACR1/NKX2-5/LIMS2/PROK2",25]
["BP","GO:0007631","feeding behavior","10/442","106/18870",1.92778205385911E-4,0.00449407351561667,3.49069794152532E-3,"HAND2/CALCA/NR4A3/CARTPT/RETN/NPY/NEGR1/NPY1R/TACR1/CNR1",10]
["BP","GO:0034764","positive regulation of transmembrane transport","15/442","217/18870",0.000193004198354178,0.00449407351561667,3.49069794152532E-3,"FLNA/KCNMB1/MS4A1/CAV1/AKAP6/DMD/JPH2/TRPC1/NR4A3/ANK2/P2RX1/ACTN2/SORBS1/GIP/CLIP3",15]
["BP","GO:1903514","release of sequestered calcium ion into cytosol by endoplasmic reticulum","6/442","37/18870",2.00462168379271E-4,0.00463961235489856,0.00360374284943078,"ATP1A2/AKAP6/CASQ2/DMD/ANK2/PLN",6]
["BP","GO:0003081","regulation of systemic arterial blood pressure by renin-angiotensin","5/442","24/18870",0.000202760464114103,0.00466470480914003,0.00362323300197594,"CTSG/CPA3/CMA1/AGTR1/TACR1",5]
["BP","GO:0010951","negative regulation of endopeptidase activity","11/442","128/18870",0.000214259429123706,0.00489990908745998,0.00380592406996056,"THBS1/RECK/SERPINA6/VTN/SERPINA9/SERPIND1/SERPINA3/AHSG/SERPINE1/CR1/TIMP3",11]
["BP","GO:0045667","regulation of osteoblast differentiation","12/442","150/18870",2.19878341629197E-4,0.00499865437005546,0.0038826228496965,"IL6/GREM1/CCN4/FERMT2/HAND2/SFRP2/TWIST2/FGF2/SFRP1/DDR2/TNN/GLI3",12]
["BP","GO:0010810","regulation of cell-substrate adhesion","15/442","220/18870",0.000224081283265168,0.005061758768076,3.9316381565236E-3,"FLNA/THBS1/FGG/GREM1/FERMT2/VTN/CCDC80/MYOC/EPHA3/SFRP1/PHLDB2/SERPINE1/ABI3BP/COL8A1/LIMS2",15]
["BP","GO:0030514","negative regulation of BMP signaling pathway","8/442","70/18870",0.000225289107064289,0.005061758768076,3.9316381565236E-3,"CHRDL2/GREM1/RBPMS2/FBN1/SFRP2/GREM2/SFRP1/CHRDL1",8]
["BP","GO:0045765","regulation of angiogenesis","20/442","349/18870",0.000231407786640546,0.00516900416437779,0.00401493926025673,"IL6/AKT3/THBS1/THBS4/ISM1/GREM1/RECK/CMA1/PTGIS/CYP1B1/SFRP2/HSPB6/PRKCB/MIR145/FGF2/VEGFD/SFRP1/SERPINE1/TNN/DCN",20]
["BP","GO:0014910","regulation of smooth muscle cell migration","9/442","89/18870",2.3728036089479E-4,0.00526954419975597,4.09303208479908E-3,"CYP1B1/CCN4/VTN/NR4A3/MYOCD/SLIT2/SERPINE1/DDR2/TACR1",9]
["BP","GO:0070942","neutrophil mediated cytotoxicity","4/442","14/18870",0.000246672600133407,5.44664442363534E-3,0.0042305917808724,"ELANE/CTSG/AZU1/TREM1",4]
["BP","GO:0032331","negative regulation of chondrocyte differentiation","5/442","25/18870",0.000248608077066504,0.00545801275479718,0.00423942194576564,"NKX3-2/GREM1/CCN4/EFEMP1/GLI3",5]
["BP","GO:0060326","cell chemotaxis","19/442","325/18870",0.000256599330486241,0.00557764319117687,0.00433234292637783,"IL6/THBS1/THBS4/CTSG/FPR2/GREM1/AZU1/AGTR1/CALCA/CHGA/FGF2/VEGFD/TREM1/SLIT2/LBP/ITGA9/CXCR1/SERPINE1/GPR183",19]
["BP","GO:0032970","regulation of actin filament-based process","21/442","379/18870",0.000256960657167701,0.00557764319117687,0.00433234292637783,"ATP1A2/FLNA/ACTA2/CAV1/CFL2/SYNPO2/RGS4/SVIL/FERMT2/ANK2/LMOD1/MYOC/PLN/SLIT2/EPHA3/SFRP1/GRHL3/PHLDB2/ACTN2/TMOD1/TACR1",21]
["BP","GO:0002444","myeloid leukocyte mediated immunity","10/442","110/18870",0.000261258375835211,0.00560756804446303,0.00435558656567377,"IL6/ELANE/FCER1A/CTSG/AZU1/NR4A3/SLC18A2/GRP/CHGA/TREM1",10]
["BP","GO:0014812","muscle cell migration","10/442","110/18870",0.000261258375835211,0.00560756804446303,0.00435558656567377,"THBS4/CYP1B1/CCN4/VTN/NR4A3/MYOCD/SLIT2/SERPINE1/DDR2/TACR1",10]
["BP","GO:0033555","multicellular organismal response to stress","9/442","91/18870",0.00028080332043659,0.0059697997546468,4.63694410926975E-3,"ATP1A2/AQP9/THBS1/THBS4/GRPR/CALCA/GRP/TAC1/TACR1",9]
["BP","GO:0010717","regulation of epithelial to mesenchymal transition","10/442","111/18870",0.000281242518373522,0.0059697997546468,4.63694410926975E-3,"IL6/GREM1/DACT3/FERMT2/SFRP2/TNXB/MIR145/EPHA3/SFRP1/PHLDB2",10]
["BP","GO:0035265","organ growth","13/442","177/18870",0.000283448974510688,0.00598357670368166,0.00464764512861654,"AKAP6/BNC2/RGS4/PI16/FGF10/FGF2/RBP4/FGF7/DDR2/AR/NKX2-5/CGA/ZFPM2",13]
["BP","GO:0018108","peptidyl-tyrosine phosphorylation","17/442","276/18870",0.000293539907913356,0.00616273402296783,0.00478680263982953,"IL6/CAV1/THBS4/GREM1/VTN/SFRP2/EFEMP1/HTR2A/FGF10/IL24/EPHA3/SFRP1/FGF7/DDR2/EPHA7/GHR/GFRA1",17]
["BP","GO:0030048","actin filament-based movement","11/442","133/18870",0.000299342159294413,0.00620314305614596,0.00481818969401183,"ATP1A2/FLNA/ACTA2/KCNA5/CAV1/SGCD/KCNE4/ABCC9/ACTC1/ANK2/PLN",11]
["BP","GO:0001837","epithelial to mesenchymal transition","13/442","178/18870",0.000299418094293297,0.00620314305614596,0.00481818969401183,"IL6/FLNA/TMEM100/GREM1/DACT3/NCAM1/FERMT2/SFRP2/TNXB/MIR145/EPHA3/SFRP1/PHLDB2",13]
["BP","GO:0010882","regulation of cardiac muscle contraction by calcium ion signaling","5/442","26/18870",0.000301922892113299,0.00620314305614596,0.00481818969401183,"ATP1A2/CASQ2/DMD/ANK2/PLN",5]
["BP","GO:1901017","negative regulation of potassium ion transmembrane transporter activity","5/442","26/18870",0.000301922892113299,0.00620314305614596,0.00481818969401183,"CAV1/KCNE4/CASQ2/GRP/ACTN2",5]
["BP","GO:0018212","peptidyl-tyrosine modification","17/442","278/18870",0.000319225190017155,0.00652374031939313,0.00506720836337421,"IL6/CAV1/THBS4/GREM1/VTN/SFRP2/EFEMP1/HTR2A/FGF10/IL24/EPHA3/SFRP1/FGF7/DDR2/EPHA7/GHR/GFRA1",17]
["BP","GO:0099509","regulation of presynaptic cytosolic calcium ion concentration","4/442","15/18870",0.000330171728436447,0.00671174487117899,0.00521323781741759,"SCGN/P2RX1/CALB2/CNR1",4]
["BP","GO:0014046","dopamine secretion","6/442","41/18870",0.000358271147227744,0.00723990247471127,5.62347557900393E-3,"GDNF/SLC18A2/PRKCB/HTR2A/SYT4/CNR1",6]
["BP","GO:0051209","release of sequestered calcium ion into cytosol","11/442","136/18870",0.000362893686523522,0.00723990247471127,5.62347557900393E-3,"ATP1A2/FLNA/AKAP6/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/PLN/FGF2",11]
["BP","GO:0042730","fibrinolysis","5/442","27/18870",0.000363470119141737,0.00723990247471127,5.62347557900393E-3,"THBS1/FGG/VTN/FAP/SERPINE1",5]
["BP","GO:0061045","negative regulation of wound healing","8/442","75/18870",0.000363691092560977,0.00723990247471127,5.62347557900393E-3,"THBS1/FGG/VTN/MMRN1/FGF2/FAP/PHLDB2/SERPINE1",8]
["BP","GO:0010466","negative regulation of peptidase activity","11/442","137/18870",0.000386446662087052,0.00761399013199206,0.00591404203517836,"THBS1/RECK/SERPINA6/VTN/SERPINA9/SERPIND1/SERPINA3/AHSG/SERPINE1/CR1/TIMP3",11]
["BP","GO:0051283","negative regulation of sequestering of calcium ion","11/442","137/18870",0.000386446662087052,0.00761399013199206,0.00591404203517836,"ATP1A2/FLNA/AKAP6/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/PLN/FGF2",11]
["BP","GO:0014909","smooth muscle cell migration","9/442","96/18870",0.00041920620916905,0.00821729722258924,0.00638265092907764,"CYP1B1/CCN4/VTN/NR4A3/MYOCD/SLIT2/SERPINE1/DDR2/TACR1",9]
["BP","GO:1902074","response to salt","20/442","366/18870",0.000427539865726232,0.00833811250822428,0.00647649222192823,"KCNMB1/CAV1/THBS1/PCSK1/FGG/FABP4/RGS4/ABCC9/CASQ2/TRPC1/PRKCB/HTR2A/P2RX1/KCNMA1/CHRM2/ASPN/NPTX1/SYT4/CHRNA3/CNR1",20]
["BP","GO:0045766","positive regulation of angiogenesis","13/442","185/18870",4.34213687698077E-4,0.0083609592978182,0.00649423809126677,"AKT3/THBS1/GREM1/CMA1/PTGIS/CYP1B1/SFRP2/HSPB6/PRKCB/FGF2/VEGFD/SERPINE1/TNN",13]
["BP","GO:1904018","positive regulation of vasculature development","13/442","185/18870",4.34213687698077E-4,0.0083609592978182,0.00649423809126677,"AKT3/THBS1/GREM1/CMA1/PTGIS/CYP1B1/SFRP2/HSPB6/PRKCB/FGF2/VEGFD/SERPINE1/TNN",13]
["BP","GO:1903036","positive regulation of response to wounding","8/442","77/18870",0.000435544184687107,0.0083609592978182,0.00649423809126677,"FLNA/THBS1/MYLK/CCN4/FERMT2/VTN/SERPINE1/DDR2",8]
["BP","GO:0051282","regulation of sequestering of calcium ion","11/442","139/18870",4.37416142337704E-4,0.0083609592978182,0.00649423809126677,"ATP1A2/FLNA/AKAP6/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/PLN/FGF2",11]
["BP","GO:0019722","calcium-mediated signaling","14/442","210/18870",4.51182661949238E-4,0.00856780923649567,0.00665490539068611,"ATP1A2/PTGFR/AKAP6/TMEM100/FPR2/AZU1/SGCD/AGTR1/CASQ2/DMD/RCAN2/ANK2/PLN/CXCR1",14]
["BP","GO:1903035","negative regulation of response to wounding","9/442","97/18870",4.52697885218277E-4,0.00856780923649567,0.00665490539068611,"THBS1/FGG/VTN/MMRN1/FGF2/FAP/PHLDB2/SERPINE1/RGMA",9]
["BP","GO:0090090","negative regulation of canonical Wnt signaling pathway","11/442","140/18870",4.64941238827612E-4,0.00875186932987749,0.00679787105131721,"CAV1/GREM1/DACT3/SFRP2/BICC1/SFRP1/SHISA3/RBMS3/TNN/NKX2-5/GLI3",11]
["BP","GO:0070296","sarcoplasmic reticulum calcium ion transport","6/442","43/18870",0.000466978972572849,0.00875186932987749,0.00679787105131721,"ATP1A2/AKAP6/CASQ2/DMD/ANK2/PLN",6]
["BP","GO:0055117","regulation of cardiac muscle contraction","8/442","78/18870",0.000475564335039355,0.00886950570495729,0.00688924317749908,"ATP1A2/CAV1/CASQ2/DMD/ANK2/CHGA/PLN/NKX2-5",8]
["BP","GO:0048762","mesenchymal cell differentiation","16/442","262/18870",0.000481866166828955,0.00894362228481568,0.0069468120160696,"IL6/FLNA/TMEM100/GDNF/GREM1/DACT3/NCAM1/FERMT2/HAND2/SFRP2/TNXB/MIR145/FGF10/EPHA3/SFRP1/PHLDB2",16]
["BP","GO:1904062","regulation of monoatomic cation transmembrane transport","18/442","315/18870",0.000485391414755134,0.00896573949754434,0.00696399119853646,"ATP1A2/FLNA/KCNMB1/MS4A1/CAV1/AKAP6/RGS4/KCNE4/CASQ2/DMD/JPH2/TRPC1/ANK2/GRP/P2RX1/PLN/FHL1/ACTN2",18]
["BP","GO:0046887","positive regulation of hormone secretion","11/442","141/18870",0.000493901542615708,0.00903604631775976,0.00701860086874953,"FGG/NR1H4/NNAT/SNAP25/PRKCB/GRP/RETN/RBP4/ADCYAP1/TACR1/GIP",11]
["BP","GO:1904064","positive regulation of cation transmembrane transport","11/442","141/18870",0.000493901542615708,0.00903604631775976,0.00701860086874953,"FLNA/KCNMB1/MS4A1/CAV1/AKAP6/DMD/JPH2/TRPC1/ANK2/P2RX1/ACTN2",11]
["BP","GO:0060070","canonical Wnt signaling pathway","18/442","316/18870",0.000503862700416843,0.00917459950237683,0.00712621978389499,"CAV1/CDK14/GREM1/RECK/DACT3/SFRP2/RSPO1/MIR145/FGF10/BICC1/RSPO3/FGF2/SFRP1/SHISA3/RBMS3/TNN/NKX2-5/GLI3",18]
["BP","GO:0009612","response to mechanical stimulus","14/442","213/18870",0.000519875923454883,0.00942152499015877,0.0073180151092085,"ATP1A2/KCNA5/THBS1/ANKRD1/TNC/MPO/TLR7/MAP1B/DMD/HTR2A/RETN/FGF2/DDR2/TACR1",14]
["BP","GO:0046660","female sex differentiation","10/442","120/18870",0.000525783104747244,0.00948384360769442,0.00736642007392359,"PTX3/AFP/FGF10/RETN/SLIT2/PTPRN/SFRP1/RBP4/CGA/ZFPM2",10]
["BP","GO:0043268","positive regulation of potassium ion transport","6/442","44/18870",0.000530161468583857,0.00950966222294996,0.00738647426013401,"FLNA/KCNMB1/AKAP6/ANK2/FHL1/ACTN2",6]
["BP","GO:0030308","negative regulation of cell growth","13/442","189/18870",0.000532164856307715,0.00950966222294996,0.00738647426013401,"GREM1/DACT3/RGS4/PI16/SFRP2/CRYAB/MEG3/FHL1/SLIT2/SFRP1/RERG/EPHA7/RGMA",13]
["BP","GO:0051208","sequestering of calcium ion","11/442","143/18870",0.000556362080338962,0.00989603292899209,0.00768658137310408,"ATP1A2/FLNA/AKAP6/CASQ2/DMD/JPH2/TRPC1/HTR2A/ANK2/PLN/FGF2",11]
["BP","GO:0050714","positive regulation of protein secretion","11/442","144/18870",0.000589983434542116,0.0104143731976934,0.008089193680775,"CD33/ANKRD1/PCSK1/FGG/NR1H4/NNAT/SNAP25/PRKCB/MYOM1/RBP4/GIP",11]
["BP","GO:0022617","extracellular matrix disassembly","7/442","62/18870",5.9729878147879E-4,0.0104143731976934,0.008089193680775,"IL6/MMP19/ELANE/CTSG/CMA1/FAP/DDR2",7]
["BP","GO:0090303","positive regulation of wound healing","7/442","62/18870",5.9729878147879E-4,0.0104143731976934,0.008089193680775,"THBS1/MYLK/CCN4/FERMT2/VTN/SERPINE1/DDR2",7]
["BP","GO:1903053","regulation of extracellular matrix organization","7/442","62/18870",5.9729878147879E-4,0.0104143731976934,0.008089193680775,"IL6/TNXB/LAMA2/ANGPTL7/FAP/PHLDB2/DDR2",7]
["BP","GO:0022612","gland morphogenesis","10/442","122/18870",0.000599056865354043,0.0104143731976934,0.008089193680775,"IL6/FGL1/CAV1/TNC/FGF10/SFRP1/FGF7/AR/LIMS2/GLI3",10]
["BP","GO:0030534","adult behavior","11/442","145/18870",0.00062528226290157,0.0107728002424566,0.00836759601286736,"ATP1A2/NRXN3/GDNF/HTR2A/CARTPT/NPY/TMOD1/CHRNA3/GIP/SEZ6/RNF180",11]
["BP","GO:0050921","positive regulation of chemotaxis","11/442","145/18870",0.00062528226290157,0.0107728002424566,0.00836759601286736,"IL6/THBS1/THBS4/FPR2/AZU1/FGF10/FGF2/VEGFD/SLIT2/LBP/SERPINE1",11]
["BP","GO:0010811","positive regulation of cell-substrate adhesion","10/442","123/18870",0.000638743035129507,0.0109555836650338,0.00850957004037665,"FLNA/FGG/FERMT2/VTN/CCDC80/MYOC/SFRP1/ABI3BP/COL8A1/LIMS2",10]
["BP","GO:0007015","actin filament organization","23/442","464/18870",0.000641641748995422,0.0109563893317352,0.00851019582878139,"FLNA/ACTL8/CFL2/SYNPO2/CALD1/RGS4/SVIL/FERMT2/CNN1/DPYSL3/ACTC1/TPM2/CORO6/LMOD1/MYOC/CAP2/SLIT2/SFRP1/PHLDB2/ACTN2/TMOD1/SORBS1/TACR1",23]
["BP","GO:0050679","positive regulation of epithelial cell proliferation","14/442","218/18870",0.000654129098231502,0.0110986161830522,0.00862066820432151,"AKT3/THBS4/AGTR1/NR4A3/FGF10/FGF2/VEGFD/VIP/PTPRN/SFRP1/FGF7/AR/TACR1/NKX2-5",14]
["BP","GO:0051893","regulation of focal adhesion assembly","7/442","63/18870",0.000658637295610596,0.0110986161830522,0.00862066820432151,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2",7]
["BP","GO:0090109","regulation of cell-substrate junction assembly","7/442","63/18870",0.000658637295610596,0.0110986161830522,0.00862066820432151,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2",7]
["BP","GO:0072001","renal system development","18/442","324/18870",6.74782333074138E-4,0.0113210206273836,0.00879341721105576,"ACTA2/GDNF/GREM1/FBN1/AGTR1/ZBTB16/FGF10/BICC1/ADAMTS16/MYOCD/FGF2/GREB1L/SLIT2/SFRP1/RBP4/EPHA7/GFRA1/GLI3",18]
["BP","GO:0016485","protein processing","15/442","245/18870",0.000698107370063474,0.0116432367258661,0.00904369328415308,"SPON1/THBS1/CTSG/PCSK1/CPA3/FGG/CMA1/CPE/GAS1/MMP16/BCHE/SCG5/CPXM2/SERPINE1/GLI3",15]
["BP","GO:0051917","regulation of fibrinolysis","4/442","18/18870",0.000700048850514072,0.0116432367258661,0.00904369328415308,"THBS1/VTN/FAP/SERPINE1",4]
["BP","GO:0010667","negative regulation of cardiac muscle cell apoptotic process","5/442","31/18870",0.000708321376768251,0.0117300462480328,0.00911112115761339,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0051279","regulation of release of sequestered calcium ion into cytosol","8/442","83/18870",0.000722833526464921,0.0119189974621383,0.00925788591609691,"ATP1A2/AKAP6/CASQ2/DMD/JPH2/TRPC1/ANK2/PLN",8]
["BP","GO:0045926","negative regulation of growth","15/442","247/18870",0.000758758724453225,0.0124579103390995,0.00967647766003101,"GREM1/DACT3/RGS4/PI16/SFRP2/CRYAB/MEG3/FHL1/SLIT2/SFRP1/RERG/RBP4/EPHA7/RGMA/CGA",15]
["BP","GO:0055021","regulation of cardiac muscle tissue growth","7/442","65/18870",0.000796252247457835,0.0129627166725975,0.0100685777053656,"AKAP6/RGS4/PI16/FGF2/RBP4/NKX2-5/ZFPM2",7]
["BP","GO:1905330","regulation of morphogenesis of an epithelium","7/442","65/18870",0.000796252247457835,0.0129627166725975,0.0100685777053656,"GDNF/GREM1/FGF10/FGF2/SFRP1/FGF7/AR",7]
["BP","GO:0061037","negative regulation of cartilage development","5/442","32/18870",0.000823517114155127,0.0133500116142785,0.0103694027032191,"NKX3-2/GREM1/CCN4/EFEMP1/GLI3",5]
["BP","GO:0034103","regulation of tissue remodeling","8/442","85/18870",0.000846890643488818,0.0136712346734623,0.010618907449318,"IL6/THBS4/GREM1/HAND2/CALCA/CARTPT/SFRP1/DDR2",8]
["BP","GO:0038166","angiotensin-activated signaling pathway","4/442","19/18870",0.000870435999078909,0.0139925318345656,0.0108684697528681,"CAV1/AGTR1/MIR145/ACTN2",4]
["BP","GO:1902905","positive regulation of supramolecular fiber organization","12/442","175/18870",0.000885432466906083,0.0141742980743882,0.0110096537003454,"FLNA/STMN2/CFL2/SYNPO2/FERMT2/MAP1B/TNXB/LMOD1/MYOC/SFRP1/ACTN2/TACR1",12]
["BP","GO:0002526","acute inflammatory response","9/442","107/18870",0.000925367651796667,0.0147521266315469,0.0114584725610114,"IL6/ELANE/PTGER3/FCER1A/HP/SERPINA3/AHSG/LBP/CNR1",9]
["BP","GO:0010664","negative regulation of striated muscle cell apoptotic process","5/442","33/18870",0.000952115343488291,0.0150630503730965,0.0116999774809525,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0048645","animal organ formation","7/442","67/18870",0.00095563670226963,0.0150630503730965,0.0116999774809525,"GDNF/NKX3-2/HAND2/FGF10/FGF2/AR/GLI3",7]
["BP","GO:0060562","epithelial tube morphogenesis","18/442","334/18870",0.000956633079394987,0.0150630503730965,0.0116999774809525,"GDNF/TNC/GREM1/HAND2/SFRP2/FGF10/ADAMTS16/ASB2/FGF2/GREB1L/SLIT2/SFRP1/GRHL3/EPHA7/AR/NKX2-5/RGMA/GLI3",18]
["BP","GO:0071868","cellular response to monoamine stimulus","8/442","87/18870",0.000987482018090407,0.0153845497280845,0.0119496968352885,"FLNA/ADCY5/RGS4/NR4A3/HTR2A/CHRM2/GNAO1/HTR3A",8]
["BP","GO:0071870","cellular response to catecholamine stimulus","8/442","87/18870",0.000987482018090407,0.0153845497280845,0.0119496968352885,"FLNA/ADCY5/RGS4/NR4A3/HTR2A/CHRM2/GNAO1/HTR3A",8]
["BP","GO:0001935","endothelial cell proliferation","13/442","202/18870",0.000989063972628024,0.0153845497280845,0.0119496968352885,"AKT3/CAV1/THBS1/THBS4/VSTM4/AGTR1/FGF10/FGF2/VEGFD/VIP/FGF7/COL8A1/PROK2",13]
["BP","GO:0034394","protein localization to cell surface","7/442","68/18870",0.00104421534387448,0.0160420854711431,0.0124604269461329,"FLNA/ANK2/FGF10/TMEM35A/FGF7/ACTN2/FCN1",7]
["BP","GO:0150116","regulation of cell-substrate junction organization","7/442","68/18870",0.00104421534387448,0.0160420854711431,0.0124604269461329,"THBS1/GREM1/FERMT2/MYOC/EPHA3/SFRP1/PHLDB2",7]
["BP","GO:0090277","positive regulation of peptide hormone secretion","9/442","109/18870",0.00105624376143017,0.0160420854711431,0.0124604269461329,"FGG/NR1H4/NNAT/SNAP25/PRKCB/GRP/RBP4/ADCYAP1/GIP",9]
["BP","GO:0022602","ovulation cycle process","6/442","50/18870",1.06056473442747E-3,0.0160420854711431,0.0124604269461329,"PTX3/AFP/RETN/SLIT2/PTPRN/CGA",6]
["BP","GO:0043114","regulation of vascular permeability","6/442","50/18870",1.06056473442747E-3,0.0160420854711431,0.0124604269461329,"AZU1/TACR2/FERMT2/AKAP12/SLIT2/TACR1",6]
["BP","GO:0060976","coronary vasculature development","6/442","50/18870",1.06056473442747E-3,0.0160420854711431,0.0124604269461329,"SGCD/ABCC9/HAND2/MIR145/MYOCD/FGF2",6]
["BP","GO:1902041","regulation of extrinsic apoptotic signaling pathway via death domain receptors","6/442","50/18870",1.06056473442747E-3,0.0160420854711431,0.0124604269461329,"THBS1/FGG/SFRP2/SFRP1/SERPINE1/TIMP3",6]
["BP","GO:0045785","positive regulation of cell adhesion","23/442","482/18870",0.00106910307595818,0.0161078196777699,0.0125114849136902,"IL6/FLNA/ELANE/CAV1/CTSG/FGG/TNFRSF13C/AZU1/FERMT2/VTN/SFRP2/MMRN1/ZBTB16/NR4A3/LAMA2/CCDC80/MYOC/SFRP1/CR1/ABI3BP/COL8A1/LIMS2/GLI3",23]
["BP","GO:0007584","response to nutrient","11/442","155/18870",1.08555425795719E-3,0.0162917947619982,0.0126543845448546,"TNC/NR1H4/CYP1B1/SFRP2/MAP1B/PRKCB/FOLR2/BCHE/SFRP1/CNR1/ASCL1",11]
["BP","GO:1904385","cellular response to angiotensin","5/442","34/18870",0.0010950564093127,0.0163704541812428,0.0127154819594573,"CAV1/AGTR1/MIR145/ACTN2/DDR2",5]
["BP","GO:0090263","positive regulation of canonical Wnt signaling pathway","9/442","110/18870",0.00112708404331486,0.0167839414512237,0.013036651419003,"CAV1/RECK/SFRP2/RSPO1/MIR145/FGF10/RSPO3/FGF2/SFRP1",9]
["BP","GO:0001649","osteoblast differentiation","15/442","257/18870",0.0011335122785986,0.0168144948817599,0.013060383295375,"IL6/BMP3/TNC/GREM1/CCN4/FERMT2/HAND2/SFRP2/TWIST2/MYOC/FGF2/SFRP1/DDR2/TNN/GLI3",15]
["BP","GO:0050918","positive chemotaxis","7/442","69/18870",0.00113911844778606,0.0168227774089673,0.0130668166126257,"GDNF/FPR2/AZU1/FGF10/FGF2/VEGFD/FGF7",7]
["BP","GO:0048754","branching morphogenesis of an epithelial tube","11/442","156/18870",1.14393078085424E-3,0.0168227774089673,0.0130668166126257,"GDNF/TNC/GREM1/SFRP2/FGF10/ADAMTS16/FGF2/GREB1L/SLIT2/AR/GLI3",11]
["BP","GO:0050730","regulation of peptidyl-tyrosine phosphorylation","14/442","231/18870",1.14720658020548E-3,0.0168227774089673,0.0130668166126257,"IL6/CAV1/THBS4/GREM1/VTN/SFRP2/HTR2A/FGF10/IL24/SFRP1/FGF7/EPHA7/GHR/GFRA1",14]
["BP","GO:0050920","regulation of chemotaxis","14/442","232/18870",0.00119547506977242,0.0174639361903636,0.0135648261869314,"IL6/ELANE/THBS1/THBS4/FPR2/GREM1/AZU1/FGF10/FGF2/VEGFD/SLIT2/LBP/SERPINE1/GPR183",14]
["BP","GO:0002793","positive regulation of peptide secretion","9/442","111/18870",1.20171711904498E-3,0.0174886256491319,0.0135840033193482,"FGG/NR1H4/NNAT/SNAP25/PRKCB/GRP/RBP4/ADCYAP1/GIP",9]
["BP","GO:0071867","response to monoamine","8/442","90/18870",1.23277710114565E-3,0.0177681561718302,0.0138011240711084,"FLNA/ADCY5/RGS4/NR4A3/HTR2A/CHRM2/GNAO1/HTR3A",8]
["BP","GO:0071869","response to catecholamine","8/442","90/18870",1.23277710114565E-3,0.0177681561718302,0.0138011240711084,"FLNA/ADCY5/RGS4/NR4A3/HTR2A/CHRM2/GNAO1/HTR3A",8]
["BP","GO:0048565","digestive tract development","10/442","134/18870",0.00123743355986424,0.0177681561718302,0.0138011240711084,"NKX3-2/RBPMS2/SFRP2/FGF10/NPY/CLMP/MYOCD/SFRP1/ASCL1/GLI3",10]
["BP","GO:1900046","regulation of hemostasis","7/442","70/18870",1.24065504119959E-3,0.0177681561718302,0.0138011240711084,"CAV1/THBS1/FGG/VTN/FAP/SERPINE1/TPH1",7]
["BP","GO:0008406","gonad development","14/442","233/18870",1.24543458520322E-3,0.0177681561718302,0.0138011240711084,"FLNA/TEX11/CYP1B1/PTX3/SFRP2/AFP/RETN/SLIT2/PTPRN/SFRP1/AR/CGA/ZFPM2/GFRA1",14]
["BP","GO:0002446","neutrophil mediated immunity","5/442","35/18870",1.25329784554034E-3,0.0177681561718302,0.0138011240711084,"IL6/ELANE/CTSG/AZU1/TREM1",5]
["BP","GO:0110110","positive regulation of animal organ morphogenesis","5/442","35/18870",1.25329784554034E-3,0.0177681561718302,0.0138011240711084,"GDNF/PRKCB/FGF10/FGF2/AR",5]
["BP","GO:0034767","positive regulation of monoatomic ion transmembrane transport","11/442","158/18870",0.00126845396010948,0.0178512824715773,0.0138656910619254,"FLNA/KCNMB1/MS4A1/CAV1/AKAP6/DMD/JPH2/TRPC1/ANK2/P2RX1/ACTN2",11]
["BP","GO:2001236","regulation of extrinsic apoptotic signaling pathway","11/442","158/18870",0.00126845396010948,0.0178512824715773,0.0138656910619254,"CAV1/THBS1/GDNF/FGG/SFRP2/FGF10/SFRP1/SERPINE1/TIMP3/SRPX/AR",11]
["BP","GO:0060688","regulation of morphogenesis of a branching structure","6/442","52/18870",1.30641972909525E-3,0.0182879223380604,0.0142048439213133,"GDNF/GREM1/FGF10/SFRP1/FGF7/AR",6]
["BP","GO:0043434","response to peptide hormone","21/442","430/18870",1.30900016735206E-3,0.0182879223380604,0.0142048439213133,"GLP2R/CAV1/PCSK1/NR1H4/CYP1B1/FBN1/AGTR1/MAP1B/NR4A3/PRKCB/CDO1/MIR145/RETN/TWIST2/AHSG/ACTN2/SORBS1/DDR2/GHR/GIP/SLC2A4",21]
["BP","GO:0002548","monocyte chemotaxis","7/442","71/18870",0.00134914105155761,0.0183295849375865,0.0142372046626093,"IL6/CTSG/FPR2/GREM1/CALCA/SLIT2/SERPINE1",7]
["BP","GO:0042698","ovulation cycle","7/442","71/18870",0.00134914105155761,0.0183295849375865,0.0142372046626093,"CYP1B1/PTX3/AFP/RETN/SLIT2/PTPRN/CGA",7]
["BP","GO:0045600","positive regulation of fat cell differentiation","7/442","71/18870",0.00134914105155761,0.0183295849375865,0.0142372046626093,"LMO3/SFRP2/ZBTB16/HTR2A/SFRP1/TPH1/MEDAG",7]
["BP","GO:0060420","regulation of heart growth","7/442","71/18870",0.00134914105155761,0.0183295849375865,0.0142372046626093,"AKAP6/RGS4/PI16/FGF2/RBP4/NKX2-5/ZFPM2",7]
["BP","GO:0030336","negative regulation of cell migration","19/442","373/18870",1.35454817191328E-3,0.0183295849375865,0.0142372046626093,"THBS1/GREM1/RECK/MEOX2/CYP1B1/SFRP2/DPYSL3/MIR145/HAS1/ADORA3/MYOCD/FGF2/SLIT2/IL24/SFRP1/PHLDB2/SERPINE1/TNN/DCN",19]
["BP","GO:0001820","serotonin secretion","3/442","10/18870",1.35491986524585E-3,0.0183295849375865,0.0142372046626093,"SLC18A2/P2RX1/CNR1",3]
["BP","GO:0002002","regulation of angiotensin levels in blood","3/442","10/18870",1.35491986524585E-3,0.0183295849375865,0.0142372046626093,"CTSG/CPA3/CMA1",3]
["BP","GO:0014866","skeletal myofibril assembly","3/442","10/18870",1.35491986524585E-3,0.0183295849375865,0.0142372046626093,"MYH11/ACTL8/ACTC1",3]
["BP","GO:0098917","retrograde trans-synaptic signaling","3/442","10/18870",1.35491986524585E-3,0.0183295849375865,0.0142372046626093,"GUCY1A1/SYT4/CNR1",3]
["BP","GO:0050886","endocrine process","8/442","92/18870",1.42163920256913E-3,0.0190474135141893,0.0147947662436578,"CTSG/CPA3/CMA1/TACR2/AGTR1/RETN/TACR1/CGA",8]
["BP","GO:1904063","negative regulation of cation transmembrane transport","8/442","92/18870",1.42163920256913E-3,0.0190474135141893,0.0147947662436578,"ATP1A2/CAV1/RGS4/KCNE4/CASQ2/GRP/PLN/ACTN2",8]
["BP","GO:0007617","mating behavior","5/442","36/18870",0.00142781236129269,0.0190474135141893,0.0147947662436578,"P2RX1/TAC1/VIP/TACR1/CNR1",5]
["BP","GO:0010092","specification of animal organ identity","5/442","36/18870",0.00142781236129269,0.0190474135141893,0.0147947662436578,"GDNF/FGF10/FGF2/AR/GLI3",5]
["BP","GO:0019933","cAMP-mediated signaling","6/442","53/18870",1.44456779133124E-3,0.019138032601016,0.0148651531340257,"AKAP6/PDE7B/CAP2/ADCYAP1/SCTR/GIP",6]
["BP","GO:0032330","regulation of chondrocyte differentiation","6/442","53/18870",1.44456779133124E-3,0.019138032601016,0.0148651531340257,"NKX3-2/GREM1/CCN4/ZBTB16/EFEMP1/GLI3",6]
["BP","GO:0070527","platelet aggregation","7/442","72/18870",0.00146489911863093,0.0193406955800001,0.0150225682811311,"IL6/FLNA/FGL1/CTSG/FGG/MMRN1/MYL9",7]
["BP","GO:0003007","heart morphogenesis","15/442","264/18870",1.47997175504495E-3,0.0194727790509681,0.0151251619522438,"FLNA/TMEM100/ANKRD1/ABCC9/HAND2/SFRP2/ACTC1/CPE/ASB2/FLRT2/SLIT2/RBP4/NPY1R/NKX2-5/ZFPM2",15]
["BP","GO:0045137","development of primary sexual characteristics","14/442","238/18870",0.0015222363664854,0.0199197582811159,0.0154723457428871,"FLNA/TEX11/CYP1B1/PTX3/SFRP2/AFP/RETN/SLIT2/PTPRN/SFRP1/AR/CGA/ZFPM2/GFRA1",14]
["BP","GO:0043502","regulation of muscle adaptation","8/442","93/18870",0.00152431258059554,0.0199197582811159,0.0154723457428871,"AKAP6/FBXO32/RGS4/PI16/HAND2/NR4A3/MIR145/SGCA",8]
["BP","GO:0051147","regulation of muscle cell differentiation","11/442","162/18870",1.55100885106265E-3,0.0201999186636702,0.0156899557279665,"AKAP6/RBPMS2/RGS4/PI16/LAMA2/MIR145/ZEB1/MYOCD/RBM24/SMYD1/NKX2-5",11]
["BP","GO:0032413","negative regulation of ion transmembrane transporter activity","7/442","73/18870",0.00158825839586549,0.0205457533902869,0.0159585771833375,"ATP1A2/CAV1/KCNE4/CASQ2/GRP/PLN/ACTN2",7]
["BP","GO:1903351","cellular response to dopamine","7/442","73/18870",0.00158825839586549,0.0205457533902869,0.0159585771833375,"FLNA/ADCY5/RGS4/HTR2A/CHRM2/GNAO1/HTR3A",7]
["BP","GO:1901888","regulation of cell junction assembly","13/442","213/18870",0.00159798613093619,0.0206022238760296,0.0160024397075383,"CAV1/THBS1/GREM1/FERMT2/SNAP25/PTPRD/MYOC/FLRT2/EPHA3/SFRP1/PHLDB2/NEGR1/EPHA7",13]
["BP","GO:0014059","regulation of dopamine secretion","5/442","37/18870",0.00161958582893541,0.0207414958492329,0.0161106169299365,"GDNF/PRKCB/HTR2A/SYT4/CNR1",5]
["BP","GO:1901381","positive regulation of potassium ion transmembrane transport","5/442","37/18870",0.00161958582893541,0.0207414958492329,0.0161106169299365,"FLNA/KCNMB1/AKAP6/ANK2/ACTN2",5]
["BP","GO:0042445","hormone metabolic process","14/442","241/18870",0.00171168013878664,0.021803722045443,0.0169356837170418,"CTSG/PCSK1/CPA3/CMA1/CYP1B1/ADH1B/AFP/CPE/BCHE/SCG5/PNLIP/RBP4/GHR/CGA",14]
["BP","GO:0045669","positive regulation of osteoblast differentiation","7/442","74/18870",1.71955434142874E-3,0.021803722045443,0.0169356837170418,"IL6/CCN4/FERMT2/SFRP2/FGF2/DDR2/GLI3",7]
["BP","GO:1903350","response to dopamine","7/442","74/18870",1.71955434142874E-3,0.021803722045443,0.0169356837170418,"FLNA/ADCY5/RGS4/HTR2A/CHRM2/GNAO1/HTR3A",7]
["BP","GO:0003073","regulation of systemic arterial blood pressure","8/442","95/18870",0.00174725920218562,0.0220821376802537,0.0171519384979094,"CTSG/CPA3/CMA1/AGTR1/CALCA/ADAMTS16/AR/TACR1",8]
["BP","GO:0015872","dopamine transport","6/442","55/18870",1.75397546006312E-3,0.022094340057582,0.0171614164944917,"GDNF/SLC18A2/PRKCB/HTR2A/SYT4/CNR1",6]
["BP","GO:0002040","sprouting angiogenesis","12/442","190/18870",0.00179245787661116,0.0224722183486445,0.0174549272633242,"AKT3/THBS1/GREM1/RECK/VSTM4/MEOX2/AGTR1/RSPO3/FGF2/VEGFD/SLIT2/TNN",12]
["BP","GO:0090092","regulation of transmembrane receptor protein serine/threonine kinase signaling pathway","16/442","297/18870",0.00180617009485947,0.0224722183486445,0.0174549272633242,"THBS1/CHRDL2/GREM1/RBPMS2/FBN1/SFRP2/TNXB/FGF10/ZEB1/CILP/GREM2/MYOCD/ASPN/SFRP1/RGMA/CHRDL1",16]
["BP","GO:0001990","regulation of systemic arterial blood pressure by hormone","5/442","38/18870",0.00182961528126354,0.0224722183486445,0.0174549272633242,"CTSG/CPA3/CMA1/AGTR1/TACR1",5]
["BP","GO:1990776","response to angiotensin","5/442","38/18870",0.00182961528126354,0.0224722183486445,0.0174549272633242,"CAV1/AGTR1/MIR145/ACTN2/DDR2",5]
["BP","GO:0035581","sequestering of extracellular ligand from receptor","3/442","11/18870",0.00183076635687812,0.0224722183486445,0.0174549272633242,"GREM1/FBN1/GREM2",3]
["BP","GO:0051593","response to folic acid","3/442","11/18870",0.00183076635687812,0.0224722183486445,0.0174549272633242,"FOLR2/BCHE/ASCL1",3]
["BP","GO:0090179","planar cell polarity pathway involved in neural tube closure","3/442","11/18870",0.00183076635687812,0.0224722183486445,0.0174549272633242,"SFRP2/SFRP1/GRHL3",3]
["BP","GO:1901731","positive regulation of platelet aggregation","3/442","11/18870",0.00183076635687812,0.0224722183486445,0.0174549272633242,"IL6/CTSG/MMRN1",3]
["BP","GO:0043500","muscle adaptation","9/442","118/18870",1.84312532800572E-3,0.0225236336546723,0.0174948632595402,"AKAP6/FBXO32/RGS4/PI16/HAND2/NR4A3/MIR145/MYOC/SGCA",9]
["BP","GO:0001759","organ induction","4/442","23/18870",1.84668001072925E-3,0.0225236336546723,0.0174948632595402,"GDNF/FGF10/FGF2/AR",4]
["BP","GO:0006816","calcium ion transport","21/442","445/18870",0.00198577452022331,0.024143499071829,0.0187530671713294,"ATP1A2/CD33/FLNA/MS4A1/CAV1/AKAP6/MYLK/TRPM6/RGS4/CASQ2/DMD/JPH2/TRPC1/TRPC4/PRKCB/HTR2A/ANK2/P2RX1/PLN/FGF2/SCN7A",21]
["BP","GO:0086001","cardiac muscle cell action potential","7/442","76/18870",2.00732827156232E-3,0.0243285653607016,0.0188968143778156,"ATP1A2/FLNA/KCNA5/CAV1/KCNE4/DMD/ANK2",7]
["BP","GO:0001558","regulation of cell growth","20/442","417/18870",0.00208855616562539,0.0252334364412979,0.0195996581580535,"PAPPA2/AKAP6/TNC/GREM1/DACT3/RGS4/PI16/AGTR1/SFRP2/MAP1B/CRYAB/MEG3/MYOCD/FHL1/SLIT2/SFRP1/RERG/EPHA7/SYT4/RGMA",20]
["BP","GO:0034763","negative regulation of transmembrane transport","10/442","144/18870",0.00212008959162347,0.0254043414437089,0.0197324058173963,"ATP1A2/CAV1/THBS1/RGS4/KCNE4/CASQ2/PRKCB/GRP/PLN/ACTN2",10]
["BP","GO:2000146","negative regulation of cell motility","19/442","388/18870",2.12056524527398E-3,0.0254043414437089,0.0197324058173963,"THBS1/GREM1/RECK/MEOX2/CYP1B1/SFRP2/DPYSL3/MIR145/HAS1/ADORA3/MYOCD/FGF2/SLIT2/IL24/SFRP1/PHLDB2/SERPINE1/TNN/DCN",19]
["BP","GO:0001657","ureteric bud development","8/442","98/18870",2.12915094869189E-3,0.0254043414437089,0.0197324058173963,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/SLIT2/SFRP1/GLI3",8]
["BP","GO:0048661","positive regulation of smooth muscle cell proliferation","8/442","98/18870",2.12915094869189E-3,0.0254043414437089,0.0197324058173963,"IL6/ELANE/THBS1/RBPMS2/CCN4/NR4A3/FGF2/DDR2",8]
["BP","GO:0030539","male genitalia development","4/442","24/18870",0.00217546392005228,0.0257173304025872,0.0199755148610468,"ROR2/FGF10/GREB1L/AR",4]
["BP","GO:0043576","regulation of respiratory gaseous exchange","4/442","24/18870",0.00217546392005228,0.0257173304025872,0.0199755148610468,"ATP1A2/GRPR/GRP/TSHZ3",4]
["BP","GO:0046716","muscle cell cellular homeostasis","4/442","24/18870",0.00217546392005228,0.0257173304025872,0.0199755148610468,"CAV1/CFL2/DMD/PLN",4]
["BP","GO:1902903","regulation of supramolecular fiber organization","19/442","389/18870",0.00218254446089573,0.0257218890146055,0.0199790556882125,"FLNA/STMN2/CFL2/SYNPO2/RGS4/SVIL/FERMT2/MAP1B/TNXB/CRYAB/LMOD1/MYOC/SLIT2/SFRP1/PHLDB2/ACTN2/TMOD1/TACR1/CLIP3",19]
["BP","GO:0030510","regulation of BMP signaling pathway","9/442","121/18870",0.00219062357752979,0.0257381522473072,0.0199916878876451,"CHRDL2/GREM1/RBPMS2/FBN1/SFRP2/GREM2/SFRP1/RGMA/CHRDL1",9]
["BP","GO:0006942","regulation of striated muscle contraction","8/442","99/18870",0.00227006158154251,0.0263491740069073,0.0204662890242424,"ATP1A2/CAV1/CASQ2/DMD/ANK2/CHGA/PLN/NKX2-5",8]
["BP","GO:0046620","regulation of organ growth","8/442","99/18870",0.00227006158154251,0.0263491740069073,0.0204662890242424,"AKAP6/RGS4/PI16/FGF2/RBP4/NKX2-5/CGA/ZFPM2",8]
["BP","GO:0072163","mesonephric epithelium development","8/442","99/18870",0.00227006158154251,0.0263491740069073,0.0204662890242424,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/SLIT2/SFRP1/GLI3",8]
["BP","GO:0072164","mesonephric tubule development","8/442","99/18870",0.00227006158154251,0.0263491740069073,0.0204662890242424,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/SLIT2/SFRP1/GLI3",8]
["BP","GO:0030279","negative regulation of ossification","5/442","40/18870",0.0023084741708001,0.0265620692742533,0.0206316519336168,"GREM1/CALCA/SFRP1/AHSG/TPH1",5]
["BP","GO:0052652","cyclic purine nucleotide metabolic process","5/442","40/18870",0.0023084741708001,0.0265620692742533,0.0206316519336168,"ADCY5/GUCY1B1/PDE1A/GUCY1A1/PDE7B",5]
["BP","GO:0086065","cell communication involved in cardiac conduction","6/442","58/18870",2.30914397126512E-3,0.0265620692742533,0.0206316519336168,"ATP1A2/FLNA/KCNA5/CAV1/CASQ2/ANK2",6]
["BP","GO:0019233","sensory perception of pain","7/442","78/18870",0.00233102212273538,0.0267336925240278,0.0207649574798265,"TMEM100/CALCA/HTR2A/TAC1/NPY1R/GIP/PROK2",7]
["BP","GO:0030177","positive regulation of Wnt signaling pathway","10/442","146/18870",0.00234614642151861,0.0268270671174837,0.0208374846648035,"CAV1/RECK/CCN4/SFRP2/RSPO1/MIR145/FGF10/RSPO3/FGF2/SFRP1",10]
["BP","GO:0007320","insemination","3/442","12/18870",2.39881825154986E-3,0.0270271546113037,0.0209928993460221,"P2RX1/TAC1/TACR1",3]
["BP","GO:0033605","positive regulation of catecholamine secretion","3/442","12/18870",2.39881825154986E-3,0.0270271546113037,0.0209928993460221,"GDNF/CARTPT/VIP",3]
["BP","GO:0035112","genitalia morphogenesis","3/442","12/18870",2.39881825154986E-3,0.0270271546113037,0.0209928993460221,"FGF10/RBP4/AR",3]
["BP","GO:0090178","regulation of establishment of planar polarity involved in neural tube closure","3/442","12/18870",2.39881825154986E-3,0.0270271546113037,0.0209928993460221,"SFRP2/SFRP1/GRHL3",3]
["BP","GO:2001046","positive regulation of integrin-mediated signaling pathway","3/442","12/18870",2.39881825154986E-3,0.0270271546113037,0.0209928993460221,"FLNA/LAMA2/LIMS2",3]
["BP","GO:0034766","negative regulation of monoatomic ion transmembrane transport","8/442","100/18870",0.00241818782460453,0.0271657240413176,0.0211005308795132,"ATP1A2/CAV1/RGS4/KCNE4/CASQ2/GRP/PLN/ACTN2",8]
["BP","GO:2001257","regulation of cation channel activity","9/442","123/18870",0.00244990993539345,0.0274418483142321,0.0213150058825853,"CAV1/AKAP6/KCNE4/CASQ2/DMD/JPH2/ANK2/GRP/ACTN2",9]
["BP","GO:0040013","negative regulation of locomotion","20/442","423/18870",0.00246217334352864,0.027499040656503,0.0213594290970125,"ELANE/THBS1/GREM1/RECK/MEOX2/CYP1B1/SFRP2/DPYSL3/MIR145/HAS1/ADORA3/MYOCD/FGF2/SLIT2/IL24/SFRP1/PHLDB2/SERPINE1/TNN/DCN",20]
["BP","GO:0051924","regulation of calcium ion transport","14/442","251/18870",0.00249029175261142,0.0277324664160378,0.0215407387296823,"ATP1A2/CD33/MS4A1/CAV1/AKAP6/MYLK/RGS4/CASQ2/DMD/JPH2/TRPC1/ANK2/P2RX1/PLN",14]
["BP","GO:0034765","regulation of monoatomic ion transmembrane transport","21/442","454/18870",0.00251959221099668,0.0279776684238417,0.0217311953701721,"ATP1A2/FLNA/KCNMB1/KCNA5/MS4A1/CAV1/AKAP6/RGS4/KCNE4/CASQ2/DMD/JPH2/TRPC1/ANK2/GRP/P2RX1/KCNMA1/PLN/FHL1/ACTN2/SCN7A",21]
["BP","GO:0008585","female gonad development","8/442","101/18870",0.00257378058546093,0.0283137364757562,0.0219922307210523,"PTX3/AFP/RETN/SLIT2/PTPRN/SFRP1/CGA/ZFPM2",8]
["BP","GO:0009187","cyclic nucleotide metabolic process","5/442","41/18870",2.57933570185182E-3,0.0283137364757562,0.0219922307210523,"ADCY5/GUCY1B1/PDE1A/GUCY1A1/PDE7B",5]
["BP","GO:0051954","positive regulation of amine transport","5/442","41/18870",2.57933570185182E-3,0.0283137364757562,0.0219922307210523,"GDNF/TACR2/CARTPT/VIP/SYT4",5]
["BP","GO:1903115","regulation of actin filament-based movement","5/442","41/18870",2.57933570185182E-3,0.0283137364757562,0.0219922307210523,"ATP1A2/ACTA2/CAV1/ANK2/PLN",5]
["BP","GO:0046661","male sex differentiation","11/442","174/18870",0.00272125680671726,0.0297018995778628,0.0230704636574265,"FLNA/TEX11/ROR2/CYP1B1/SFRP2/FGF10/GREB1L/SFRP1/AR/ZFPM2/GFRA1",11]
["BP","GO:1903169","regulation of calcium ion transmembrane transport","11/442","174/18870",0.00272125680671726,0.0297018995778628,0.0230704636574265,"ATP1A2/MS4A1/CAV1/AKAP6/CASQ2/DMD/JPH2/TRPC1/ANK2/P2RX1/PLN",11]
["BP","GO:0001658","branching involved in ureteric bud morphogenesis","6/442","60/18870",2.74657790360035E-3,0.0298933493077409,0.0232191690970836,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/GLI3",6]
["BP","GO:0071375","cellular response to peptide hormone stimulus","16/442","310/18870",0.0027722821271448,0.0300878755155094,0.0233702641405159,"GLP2R/CAV1/NR1H4/CYP1B1/FBN1/AGTR1/MAP1B/NR4A3/PRKCB/MIR145/AHSG/ACTN2/SORBS1/DDR2/GHR/SLC2A4",16]
["BP","GO:0007626","locomotory behavior","12/442","201/18870",0.00285755154127818,0.0309259521734951,0.0240212264478092,"ATP1A2/ADCY5/GDNF/SNAP25/SLC18A2/NEGR1/TMOD1/NPY1R/CHRNA3/HPGDS/GIP/SEZ6",12]
["BP","GO:1900026","positive regulation of substrate adhesion-dependent cell spreading","5/442","42/18870",0.00287251355780896,0.0310005536210731,0.0240791718994335,"FLNA/FGG/FERMT2/MYOC/LIMS2",5]
["BP","GO:0002688","regulation of leukocyte chemotaxis","9/442","126/18870",2.8838987660278E-3,0.0310177095185893,0.0240924974616292,"IL6/THBS1/THBS4/FPR2/GREM1/VEGFD/SLIT2/LBP/SERPINE1",9]
["BP","GO:1901019","regulation of calcium ion transmembrane transporter activity","7/442","81/18870",0.00289024987185189,0.0310177095185893,0.0240924974616292,"ATP1A2/AKAP6/CASQ2/DMD/JPH2/ANK2/PLN",7]
["BP","GO:0032677","regulation of interleukin-8 production","8/442","103/18870",0.00290838686584735,0.0311254104138873,0.0241761523667417,"IL6/CD33/ELANE/TLR7/SSC5D/LBP/SERPINE1/FCN1",8]
["BP","GO:0002026","regulation of the force of heart contraction","4/442","26/18870",0.00294985884216785,0.0312213709961677,0.0242506881761515,"ATP1A2/CAV1/CHGA/PLN",4]
["BP","GO:0060314","regulation of ryanodine-sensitive calcium-release channel activity","4/442","26/18870",0.00294985884216785,0.0312213709961677,0.0242506881761515,"AKAP6/CASQ2/DMD/JPH2",4]
["BP","GO:0060343","trabecula formation","4/442","26/18870",0.00294985884216785,0.0312213709961677,0.0242506881761515,"GREM1/SFRP1/RBP4/NKX2-5",4]
["BP","GO:0060740","prostate gland epithelium morphogenesis","4/442","26/18870",0.00294985884216785,0.0312213709961677,0.0242506881761515,"TNC/FGF10/SFRP1/AR",4]
["BP","GO:0032233","positive regulation of actin filament bundle assembly","6/442","61/18870",2.98723172511213E-3,0.0315300667249472,0.0244904625236925,"FLNA/SYNPO2/FERMT2/MYOC/SFRP1/TACR1",6]
["BP","GO:0002430","complement receptor mediated signaling pathway","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"FPR1/FPR2/CR1",3]
["BP","GO:0033604","negative regulation of catecholamine secretion","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"CHGA/SYT4/CNR1",3]
["BP","GO:0051481","negative regulation of cytosolic calcium ion concentration","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"ATP1A2/KCNA5/KCNK3",3]
["BP","GO:0051918","negative regulation of fibrinolysis","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"THBS1/VTN/SERPINE1",3]
["BP","GO:0090177","establishment of planar polarity involved in neural tube closure","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"SFRP2/SFRP1/GRHL3",3]
["BP","GO:1900115","extracellular regulation of signal transduction","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"GREM1/FBN1/GREM2",3]
["BP","GO:1900116","extracellular negative regulation of signal transduction","3/442","13/18870",3.0646119421613E-3,0.0317364934818968,0.0246508011236411,"GREM1/FBN1/GREM2",3]
["BP","GO:0032637","interleukin-8 production","8/442","104/18870",0.00308791940037755,0.0318918987533617,0.0247715096210253,"IL6/CD33/ELANE/TLR7/SSC5D/LBP/SERPINE1/FCN1",8]
["BP","GO:0001822","kidney development","16/442","314/18870",3.14405947878046E-3,0.0322980655547447,0.0250869930265764,"ACTA2/GDNF/GREM1/FBN1/AGTR1/ZBTB16/FGF10/BICC1/ADAMTS16/FGF2/GREB1L/SLIT2/SFRP1/EPHA7/GFRA1/GLI3",16]
["BP","GO:0002440","production of molecular mediator of immune response","16/442","314/18870",3.14405947878046E-3,0.0322980655547447,0.0250869930265764,"IL6/ELANE/IGLV3-22/VPREB3/TLR7/IGLV3-12/IGKV1D-17/NR4A3/IGLV1-51/IGLV8-61/TREM1/GAPT/IGKV6D-21/RBP4/CR1/CLC",16]
["BP","GO:0019098","reproductive behavior","5/442","43/18870",0.00318903126639266,0.0326726883346149,0.025377975130451,"P2RX1/TAC1/VIP/TACR1/CNR1",5]
["BP","GO:0032602","chemokine production","8/442","105/18870",0.00327595622283493,0.0333852090401374,0.0259314139096385,"IL6/ELANE/NR1H4/AZU1/TLR7/TREM1/LBP/ADCYAP1",8]
["BP","GO:0046545","development of primary female sexual characteristics","8/442","105/18870",0.00327595622283493,0.0333852090401374,0.0259314139096385,"PTX3/AFP/RETN/SLIT2/PTPRN/SFRP1/CGA/ZFPM2",8]
["BP","GO:0016049","cell growth","22/442","497/18870",0.00342338562257113,0.0347953639204187,0.0270267285992457,"PAPPA2/AKAP6/DCLK1/TNC/GREM1/DACT3/RGS4/PI16/AGTR1/SFRP2/MAP1B/CRYAB/MEG3/MYOCD/FHL1/SLIT2/SFRP1/RERG/EPHA7/TNN/SYT4/RGMA",22]
["BP","GO:0008037","cell recognition","10/442","154/18870",0.00345136833759656,0.0349872220396991,0.0271757512486772,"PTX3/GAP43/FOLR2/COLEC12/NEXN/EPHA3/LBP/TNN/FCN1/CNR1",10]
["BP","GO:0032963","collagen metabolic process","8/442","106/18870",0.00347276466136787,0.0351114784973035,0.0272722654154513,"IL6/MMP19/TNXB/MIR145/MMP16/FAP/DDR2/PRTN3",8]
["BP","GO:0007411","axon guidance","13/442","233/18870",0.00349128207661803,0.0351138893674515,0.0272741380193225,"NRXN3/GDNF/NCAM1/GAP43/NFASC/LAMA2/FLRT2/NEXN/SLIT2/EPHA3/BOC/EPHA7/GLI3",13]
["BP","GO:0097485","neuron projection guidance","13/442","233/18870",0.00349128207661803,0.0351138893674515,0.0272741380193225,"NRXN3/GDNF/NCAM1/GAP43/NFASC/LAMA2/FLRT2/NEXN/SLIT2/EPHA3/BOC/EPHA7/GLI3",13]
["BP","GO:0032757","positive regulation of interleukin-8 production","6/442","63/18870",3.5153653031215E-3,0.0352637950250465,0.0273905747817767,"IL6/ELANE/TLR7/LBP/SERPINE1/FCN1",6]
["BP","GO:1904427","positive regulation of calcium ion transmembrane transport","7/442","84/18870",0.00354687454746254,0.0354872187795601,0.0275641155209876,"MS4A1/CAV1/AKAP6/JPH2/TRPC1/ANK2/P2RX1",7]
["BP","GO:0050678","regulation of epithelial cell proliferation","19/442","407/18870",0.00358760536868313,0.0358015060428067,0.0278082330012759,"AKT3/CAV1/THBS1/THBS4/AGTR1/SFRP2/NR4A3/FGF10/ZEB1/FGF2/VEGFD/VIP/PTPRN/SFRP1/FGF7/AR/TACR1/NKX2-5/LIMS2",19]
["BP","GO:0030100","regulation of endocytosis","15/442","291/18870",3.75303625122329E-3,0.0371441970156731,0.0288511462065901,"CAV1/FPR2/GREM1/AZU1/PTX3/VTN/RSPO1/EPHA3/AHSG/SERPINE1/STON1/PRTN3/FCN1/SYT4/CLIP3",15]
["BP","GO:0042415","norepinephrine metabolic process","3/442","14/18870",0.00383314085362345,0.0371441970156731,0.0288511462065901,"MOXD1/HAND2/RNF180",3]
["BP","GO:0050930","induction of positive chemotaxis","3/442","14/18870",0.00383314085362345,0.0371441970156731,0.0288511462065901,"AZU1/FGF10/VEGFD",3]
["BP","GO:0060019","radial glial cell differentiation","3/442","14/18870",0.00383314085362345,0.0371441970156731,0.0288511462065901,"GAP43/FGF10/GLI3",3]
["BP","GO:0061469","regulation of type B pancreatic cell proliferation","3/442","14/18870",0.00383314085362345,0.0371441970156731,0.0288511462065901,"NR4A3/PTPRN/SFRP1",3]
["BP","GO:1902043","positive regulation of extrinsic apoptotic signaling pathway via death domain receptors","3/442","14/18870",0.00383314085362345,0.0371441970156731,0.0288511462065901,"THBS1/SFRP1/TIMP3",3]
["BP","GO:0051235","maintenance of location","17/442","350/18870",0.00386074512548958,0.0371441970156731,0.0288511462065901,"IL6/ATP1A2/FLNA/CAV1/AKAP6/FBN1/CASQ2/ALB/DMD/JPH2/TRPC1/SLC18A2/HTR2A/ANK2/PLN/FGF2/APOB",17]
["BP","GO:0007178","transmembrane receptor protein serine/threonine kinase signaling pathway","19/442","410/18870",0.00388256359176288,0.0371441970156731,0.0288511462065901,"THBS1/TMEM100/CHRDL2/GREM1/RBPMS2/FBN1/FERMT2/SFRP2/TNXB/AFP/FGF10/ZEB1/CILP/GREM2/MYOCD/ASPN/SFRP1/RGMA/CHRDL1",19]
["BP","GO:0003156","regulation of animal organ formation","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"GDNF/FGF10/FGF2/AR",4]
["BP","GO:0032104","regulation of response to extracellular stimulus","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"NR1H4/CARTPT/NPY/GHR",4]
["BP","GO:0032107","regulation of response to nutrient levels","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"NR1H4/CARTPT/NPY/GHR",4]
["BP","GO:0051873","killing by host of symbiont cells","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"ELANE/CTSG/AZU1/TREM1",4]
["BP","GO:0051953","negative regulation of amine transport","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"RGS4/CHGA/SYT4/CNR1",4]
["BP","GO:0060512","prostate gland morphogenesis","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"TNC/FGF10/SFRP1/AR",4]
["BP","GO:0099623","regulation of cardiac muscle cell membrane repolarization","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"FLNA/KCNA5/KCNE4/ANK2",4]
["BP","GO:1903055","positive regulation of extracellular matrix organization","4/442","28/18870",0.00389393557426015,0.0371441970156731,0.0288511462065901,"IL6/TNXB/PHLDB2/DDR2",4]
["BP","GO:0008038","neuron recognition","5/442","45/18870",3.89617683428325E-3,0.0371441970156731,0.0288511462065901,"GAP43/NEXN/EPHA3/TNN/CNR1",5]
["BP","GO:0045214","sarcomere organization","5/442","45/18870",3.89617683428325E-3,0.0371441970156731,0.0288511462065901,"ANKRD1/CFL2/LDB3/FLNC/ACTN2",5]
["BP","GO:0051651","maintenance of location in cell","13/442","237/18870",0.00403095471781026,0.0382671987763997,0.0297234194172698,"ATP1A2/FLNA/CAV1/AKAP6/CASQ2/ALB/DMD/JPH2/TRPC1/HTR2A/ANK2/PLN/FGF2",13]
["BP","GO:0033273","response to vitamin","7/442","86/18870",0.0040438528639298,0.0382671987763997,0.0297234194172698,"TNC/MAP1B/PRKCB/FOLR2/BCHE/SFRP1/ASCL1",7]
["BP","GO:1901879","regulation of protein depolymerization","7/442","86/18870",0.0040438528639298,0.0382671987763997,0.0297234194172698,"STMN2/CFL2/SVIL/MAP1B/LMOD1/ACTN2/TMOD1",7]
["BP","GO:0070588","calcium ion transmembrane transport","17/442","352/18870",0.00408672797694967,0.0385779088143504,0.0299647583464433,"ATP1A2/FLNA/MS4A1/CAV1/AKAP6/TRPM6/CASQ2/DMD/JPH2/TRPC1/TRPC4/HTR2A/ANK2/P2RX1/PLN/FGF2/SCN7A",17]
["BP","GO:0048732","gland development","20/442","443/18870",0.00413823085527873,0.0388040748020886,0.0301404290703639,"IL6/FGL1/CAV1/PCSK1/TNC/CYP1B1/HAND2/VTN/CDO1/FGF10/FGF2/SFRP1/FGF7/TPH1/AR/NKX2-5/LIMS2/CGA/ASCL1/GLI3",20]
["BP","GO:0007189","adenylate cyclase-activating G protein-coupled receptor signaling pathway","10/442","158/18870",0.00414098663947327,0.0388040748020886,0.0301404290703639,"ADCY5/PTGFR/PTGER3/CALCA/CHGA/PLN/VIP/ADCYAP1/GIP/CNR1",10]
["BP","GO:0010976","positive regulation of neuron projection development","10/442","158/18870",0.00414098663947327,0.0388040748020886,0.0301404290703639,"FLNA/STMN2/ROR2/DPYSL3/EPHA3/NEGR1/DDR2/TNN/RGMA/CNR1",10]
["BP","GO:0051495","positive regulation of cytoskeleton organization","11/442","184/18870",0.00416707156900778,0.0389535011389973,0.0302564935283315,"FLNA/STMN2/CFL2/SYNPO2/FERMT2/MAP1B/LMOD1/MYOC/SFRP1/ACTN2/TACR1",11]
["BP","GO:0007389","pattern specification process","21/442","475/18870",0.00425079034923672,0.0396396517518628,0.0307894497702762,"GDNF/NKX3-2/GREM1/MEOX2/HAND2/SFRP2/ZBTB16/FGF10/ZEB1/BICC1/ASB2/GREM2/FGF2/SFRP1/GRHL3/AR/NKX2-5/ASCL1/GLI3/CHRDL1/BARX1",21]
["BP","GO:0003401","axis elongation","4/442","29/18870",0.00443464942848064,0.040956545923612,0.0318123257331544,"TNC/SFRP2/FGF10/SFRP1",4]
["BP","GO:0006910","phagocytosis, recognition","4/442","29/18870",0.00443464942848064,0.040956545923612,0.0318123257331544,"PTX3/COLEC12/LBP/FCN1",4]
["BP","GO:0007588","excretion","4/442","29/18870",0.00443464942848064,0.040956545923612,0.0318123257331544,"AGTR1/KCNMA1/TACR1/CHRNA3",4]
["BP","GO:0090025","regulation of monocyte chemotaxis","4/442","29/18870",0.00443464942848064,0.040956545923612,0.0318123257331544,"FPR2/GREM1/SLIT2/SERPINE1",4]
["BP","GO:0033627","cell adhesion mediated by integrin","7/442","88/18870",0.00459187526062617,0.0422613667978011,0.0328258239600444,"CYP1B1/FBN1/VTN/SFRP2/MMRN1/ITGA9/SERPINE1",7]
["BP","GO:0001938","positive regulation of endothelial cell proliferation","8/442","111/18870",4.59793110918294E-3,0.0422613667978011,0.0328258239600444,"AKT3/THBS4/AGTR1/FGF10/FGF2/VEGFD/VIP/FGF7",8]
["BP","GO:0002274","myeloid leukocyte activation","13/442","241/18870",0.00463618414116641,0.0425112636524137,0.0330199272458404,"IL6/CD33/FCER1A/THBS1/CTSG/AZU1/NR4A3/SLC18A2/MIR145/GRP/CHGA/LBP/CNR1",13]
["BP","GO:0033689","negative regulation of osteoblast proliferation","3/442","15/18870",0.00470888313492021,0.0425686532614376,0.0330645036839846,"GREM1/SFRP1/TNN",3]
["BP","GO:0072537","fibroblast activation","3/442","15/18870",0.00470888313492021,0.0425686532614376,0.0330645036839846,"ACTA2/AKAP12/DDR2",3]
["BP","GO:0003044","regulation of systemic arterial blood pressure mediated by a chemical signal","5/442","47/18870",0.00470892182095548,0.0425686532614376,0.0330645036839846,"CTSG/CPA3/CMA1/AGTR1/TACR1",5]
["BP","GO:0042311","vasodilation","5/442","47/18870",0.00470892182095548,0.0425686532614376,0.0330645036839846,"KCNMB1/VSTM4/CALCA/GUCY1A1/KCNMA1",5]
["BP","GO:0045933","positive regulation of muscle contraction","5/442","47/18870",0.00470892182095548,0.0425686532614376,0.0330645036839846,"TACR2/CHGA/MYOCD/TACR1/PROK2",5]
["BP","GO:0048806","genitalia development","5/442","47/18870",0.00470892182095548,0.0425686532614376,0.0330645036839846,"ROR2/FGF10/GREB1L/RBP4/AR",5]
["BP","GO:0051017","actin filament bundle assembly","10/442","161/18870",0.00472623107340856,0.0426248351737927,0.0331081420635366,"FLNA/SYNPO2/CALD1/FERMT2/DPYSL3/MYOC/SFRP1/PHLDB2/SORBS1/TACR1",10]
["BP","GO:0010611","regulation of cardiac muscle hypertrophy","6/442","67/18870",0.00477569220248982,0.0428696482288923,0.0332982965913887,"AKAP6/RGS4/PI16/HAND2/NR4A3/MIR145",6]
["BP","GO:0060675","ureteric bud morphogenesis","6/442","67/18870",0.00477569220248982,0.0428696482288923,0.0332982965913887,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/GLI3",6]
["BP","GO:0055017","cardiac muscle tissue growth","7/442","89/18870",0.0048860220772307,0.0437578014469005,0.0339881550458815,"AKAP6/RGS4/PI16/FGF2/RBP4/NKX2-5/ZFPM2",7]
["BP","GO:0007263","nitric oxide mediated signal transduction","4/442","30/18870",0.00502373288133787,0.0447823241997682,0.0347839363013625,"FPR1/THBS1/GUCY1B1/GUCY1A1",4]
["BP","GO:0045987","positive regulation of smooth muscle contraction","4/442","30/18870",0.00502373288133787,0.0447823241997682,0.0347839363013625,"TACR2/MYOCD/TACR1/PROK2",4]
["BP","GO:0048545","response to steroid hormone","16/442","330/18870",5.06676843961496E-3,0.0450613989467608,0.0350007030368139,"IL6/ATP1A2/LMO3/CAV1/THBS1/PCSK1/FBXO32/CYP1B1/NR4A3/CDO1/BCHE/SLIT2/SFRP1/GHR/AR/TACR1",16]
["BP","GO:0050808","synapse organization","21/442","483/18870",0.00512964281953953,0.045265129844136,0.0351589476720254,"FLNA/GDNF/FILIP1/TNC/KIF1A/ROR2/SNAP25/GAP43/MAP1B/PTPRD/DNER/FLRT2/CAP2/SPARCL1/INA/IGSF21/NEGR1/NPTX1/EPHA7/SEZ6/CHRDL1",21]
["BP","GO:0030193","regulation of blood coagulation","6/442","68/18870",0.00513680286622678,0.045265129844136,0.0351589476720254,"CAV1/THBS1/FGG/VTN/FAP/SERPINE1",6]
["BP","GO:0035567","non-canonical Wnt signaling pathway","6/442","68/18870",0.00513680286622678,0.045265129844136,0.0351589476720254,"SFRP2/PRICKLE2/MYOC/RSPO3/SFRP1/GRHL3",6]
["BP","GO:0072171","mesonephric tubule morphogenesis","6/442","68/18870",0.00513680286622678,0.045265129844136,0.0351589476720254,"GDNF/GREM1/ADAMTS16/FGF2/GREB1L/GLI3",6]
["BP","GO:0030195","negative regulation of blood coagulation","5/442","48/18870",0.00515741794910736,0.0453427912138912,0.0352192698680461,"THBS1/FGG/VTN/FAP/SERPINE1",5]
["BP","GO:0110053","regulation of actin filament organization","14/442","273/18870",0.00525012990135912,0.0460525093174012,0.0357705317720574,"FLNA/CFL2/SYNPO2/RGS4/SVIL/FERMT2/LMOD1/MYOC/SLIT2/SFRP1/PHLDB2/ACTN2/TMOD1/TACR1",14]
["BP","GO:0010975","regulation of neuron projection development","20/442","453/18870",0.00527989083954734,0.0462080651606854,0.0358913572236344,"FLNA/STMN2/KIF1A/ROR2/SNAP25/SFRP2/MAP1B/PTPRD/DPYSL3/SLIT2/EPHA3/SFRP1/NEGR1/DDR2/EPHA7/TNN/RGMA/CHRNA3/CNR1/SEZ6",20]
["BP","GO:0007611","learning or memory","14/442","274/18870",0.00541837340726285,0.0473122514334179,0.0367490158124167,"ATP1A2/NRXN3/TACR2/SNAP25/GRPR/HTR2A/NPTX2/BCHE/VIP/TACR1/SYT4/GIP/SLC2A4/CNR1",14]
["BP","GO:0051346","negative regulation of hydrolase activity","12/442","218/18870",0.00546391490105214,0.0475725479832103,0.0369511968909836,"THBS1/RECK/SERPINA6/PTX3/VTN/SERPINA9/SERPIND1/SERPINA3/AHSG/SERPINE1/CR1/TIMP3",12]
["BP","GO:0035270","endocrine system development","9/442","139/18870",0.00551060720257542,0.0475725479832103,0.0369511968909836,"IL6/PCSK1/CYP1B1/FGF10/FGF2/NKX2-5/CGA/GIP/ASCL1",9]
["BP","GO:0045576","mast cell activation","6/442","69/18870",0.0055175347156021,0.0475725479832103,0.0369511968909836,"FCER1A/NR4A3/SLC18A2/GRP/CHGA/CNR1",6]
["BP","GO:0061572","actin filament bundle organization","10/442","165/18870",0.0056055636924991,0.0475725479832103,0.0369511968909836,"FLNA/SYNPO2/CALD1/FERMT2/DPYSL3/MYOC/SFRP1/PHLDB2/SORBS1/TACR1",10]
["BP","GO:0014911","positive regulation of smooth muscle cell migration","5/442","49/18870",0.00563532685547834,0.0475725479832103,0.0369511968909836,"CYP1B1/CCN4/VTN/NR4A3/DDR2",5]
["BP","GO:0046850","regulation of bone remodeling","5/442","49/18870",0.00563532685547834,0.0475725479832103,0.0369511968909836,"IL6/GREM1/CALCA/CARTPT/SFRP1",5]
["BP","GO:0048546","digestive tract morphogenesis","5/442","49/18870",0.00563532685547834,0.0475725479832103,0.0369511968909836,"RBPMS2/SFRP2/FGF10/SFRP1/GLI3",5]
["BP","GO:0060071","Wnt signaling pathway, planar cell polarity pathway","5/442","49/18870",0.00563532685547834,0.0475725479832103,0.0369511968909836,"SFRP2/PRICKLE2/RSPO3/SFRP1/GRHL3",5]
["BP","GO:1900047","negative regulation of hemostasis","5/442","49/18870",0.00563532685547834,0.0475725479832103,0.0369511968909836,"THBS1/FGG/VTN/FAP/SERPINE1",5]
["BP","GO:0007271","synaptic transmission, cholinergic","4/442","31/18870",0.00566305310423707,0.0475725479832103,0.0369511968909836,"TACR2/LAMA2/TACR1/CHRNA3",4]
["BP","GO:0033688","regulation of osteoblast proliferation","4/442","31/18870",0.00566305310423707,0.0475725479832103,0.0369511968909836,"GREM1/SFRP1/TNN/NPR3",4]
["BP","GO:0086011","membrane repolarization during action potential","4/442","31/18870",0.00566305310423707,0.0475725479832103,0.0369511968909836,"FLNA/KCNA5/CAV1/KCNE4",4]
["BP","GO:0010715","regulation of extracellular matrix disassembly","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"IL6/FAP/DDR2",3]
["BP","GO:0034112","positive regulation of homotypic cell-cell adhesion","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"IL6/CTSG/MMRN1",3]
["BP","GO:0034374","low-density lipoprotein particle remodeling","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"AGTR1/MPO/APOB",3]
["BP","GO:0042249","establishment of planar polarity of embryonic epithelium","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"SFRP2/SFRP1/GRHL3",3]
["BP","GO:0045779","negative regulation of bone resorption","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"IL6/CALCA/CARTPT",3]
["BP","GO:0072378","blood coagulation, fibrin clot formation","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"FLNA/FGG/F13A1",3]
["BP","GO:0090136","epithelial cell-cell adhesion","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"BVES/THBS4/CYP1B1",3]
["BP","GO:2000095","regulation of Wnt signaling pathway, planar cell polarity pathway","3/442","16/18870",5.6958282332839E-3,0.0475725479832103,0.0369511968909836,"SFRP2/RSPO3/SFRP1",3]
["BP","GO:0014743","regulation of muscle hypertrophy","6/442","70/18870",0.00591849218507732,0.0492182834958162,0.0382294949753798,"AKAP6/RGS4/PI16/HAND2/NR4A3/MIR145",6]
["BP","GO:0048662","negative regulation of smooth muscle cell proliferation","6/442","70/18870",0.00591849218507732,0.0492182834958162,0.0382294949753798,"VIPR2/OGN/CNN1/MIR145/MYOCD/VIP",6]
["BP","GO:0030509","BMP signaling pathway","10/442","167/18870",0.00609065251290567,0.0504316529193612,0.0391719597869501,"TMEM100/CHRDL2/GREM1/RBPMS2/FBN1/SFRP2/GREM2/SFRP1/RGMA/CHRDL1",10]
["BP","GO:1902904","negative regulation of supramolecular fiber organization","10/442","167/18870",0.00609065251290567,0.0504316529193612,0.0391719597869501,"STMN2/SVIL/MAP1B/CRYAB/LMOD1/MYOC/SLIT2/PHLDB2/TMOD1/CLIP3",10]
["BP","GO:0010656","negative regulation of muscle cell apoptotic process","5/442","50/18870",0.00614363375781732,0.0506520190934209,0.0393431256006598,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0010665","regulation of cardiac muscle cell apoptotic process","5/442","50/18870",0.00614363375781732,0.0506520190934209,0.0393431256006598,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0032956","regulation of actin cytoskeleton organization","16/442","337/18870",0.00616597981843719,0.0507273971358366,0.0394016742595953,"FLNA/CFL2/SYNPO2/RGS4/SVIL/FERMT2/LMOD1/MYOC/SLIT2/EPHA3/SFRP1/GRHL3/PHLDB2/ACTN2/TMOD1/TACR1",16]
["BP","GO:0003205","cardiac chamber development","10/442","168/18870",0.00634514491244724,0.0518336813646487,0.0402609624013751,"HAND2/SFRP2/ANK2/CPE/MYOCD/GREB1L/SLIT2/RBP4/NKX2-5/ZFPM2",10]
["BP","GO:0050731","positive regulation of peptidyl-tyrosine phosphorylation","10/442","168/18870",0.00634514491244724,0.0518336813646487,0.0402609624013751,"IL6/THBS4/GREM1/VTN/HTR2A/FGF10/IL24/FGF7/GHR/GFRA1",10]
["BP","GO:0045907","positive regulation of vasoconstriction","4/442","32/18870",0.0063544153885345,0.0518336813646487,0.0402609624013751,"CAV1/FGG/HTR2A/TACR1",4]
["BP","GO:0099171","presynaptic modulation of chemical synaptic transmission","4/442","32/18870",0.0063544153885345,0.0518336813646487,0.0402609624013751,"PRKCB/HTR2A/ADORA3/CHRM2",4]
["BP","GO:0014074","response to purine-containing compound","9/442","143/18870",0.006609402209927,0.0537672502243245,0.0417628303202718,"AQP9/AKAP6/CYP1B1/ABCC9/TLR7/CASQ2/CDO1/P2RX1/AQP8",9]
["BP","GO:0051928","positive regulation of calcium ion transport","8/442","118/18870",0.00661944543365578,0.0537672502243245,0.0417628303202718,"MS4A1/CAV1/AKAP6/MYLK/JPH2/TRPC1/ANK2/P2RX1",8]
["BP","GO:0002377","immunoglobulin production","11/442","196/18870",0.00664615043280766,0.0538702741832216,0.0418428524916938,"IL6/IGLV3-22/VPREB3/IGLV3-12/IGKV1D-17/IGLV1-51/IGLV8-61/GAPT/IGKV6D-21/RBP4/CR1",11]
["BP","GO:0010001","glial cell differentiation","13/442","252/18870",0.00668465651172008,0.0540683164590075,0.0419966785833273,"IL6/ROR2/VTN/GAP43/TRPC4/LAMA2/FGF10/MYOC/DNER/FGF2/TSPAN2/ASCL1/GLI3",13]
["BP","GO:0061035","regulation of cartilage development","6/442","72/18870",0.00678349474582199,0.0541825812934107,0.042085431920551,"NKX3-2/GREM1/CCN4/ZBTB16/EFEMP1/GLI3",6]
["BP","GO:0001991","regulation of systemic arterial blood pressure by circulatory renin-angiotensin","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"CTSG/CPA3/CMA1",3]
["BP","GO:0008228","opsonization","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"PTX3/LBP/FCN1",3]
["BP","GO:0046068","cGMP metabolic process","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"GUCY1B1/PDE1A/GUCY1A1",3]
["BP","GO:0048557","embryonic digestive tract morphogenesis","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"RBPMS2/FGF10/GLI3",3]
["BP","GO:0055119","relaxation of cardiac muscle","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"ATP1A2/CHGA/PLN",3]
["BP","GO:0061548","ganglion development","3/442","17/18870",0.00679750239027172,0.0541825812934107,0.042085431920551,"RGS4/CYP1B1/ASCL1",3]
["BP","GO:0051592","response to calcium ion","9/442","144/18870",0.00690868971781392,0.0549548362232734,0.0426852682793995,"KCNMB1/CAV1/THBS1/PCSK1/FGG/CASQ2/TRPC1/KCNMA1/SYT4",9]
["BP","GO:0001667","ameboidal-type cell migration","21/442","497/18870",0.00702746785989084,0.055784156028307,0.0433294288446945,"ACTA2/AKT3/THBS1/GDNF/GREM1/VSTM4/MEOX2/CYP1B1/HAND2/MIR145/FGF10/TNS1/HAS1/AKAP12/FGF2/FAP/SLIT2/FGF7/DDR2/TACR1/DCN",21]
["BP","GO:0019934","cGMP-mediated signaling","4/442","33/18870",0.00709956022233397,0.0560092615486799,0.0435042758679711,"THBS1/GUCY1B1/GUCY1A1/IRAG1",4]
["BP","GO:0034368","protein-lipid complex remodeling","4/442","33/18870",0.00709956022233397,0.0560092615486799,0.0435042758679711,"NR1H4/AGTR1/MPO/APOB",4]
["BP","GO:0034369","plasma lipoprotein particle remodeling","4/442","33/18870",0.00709956022233397,0.0560092615486799,0.0435042758679711,"NR1H4/AGTR1/MPO/APOB",4]
["BP","GO:0097305","response to alcohol","13/442","254/18870",0.00712442187338329,0.056090223027743,0.0435671613698051,"ADCY5/KCNMB1/PTGFR/TNC/RGS4/CYP1B1/PRKCB/CDO1/SLIT2/SFRP1/TACR1/SLC2A4/CNR1",13]
["BP","GO:0070372","regulation of ERK1 and ERK2 cascade","15/442","313/18870",7.2455579067015E-3,0.0563130234764868,0.0437402179664758,"LMO3/ACTA2/FGG/FPR2/FERMT2/HAND2/HTR2A/MIR145/FGF10/AKAP12/FGF2/ADCYAP1/EPHA7/TIMP3/GPR183",15]
["BP","GO:0035914","skeletal muscle cell differentiation","6/442","73/18870",0.00724873979208675,0.0563130234764868,0.0437402179664758,"ANKRD1/HLF/ASB2/MYOCD/RBM24/SMYD1",6]
["BP","GO:0050818","regulation of coagulation","6/442","73/18870",0.00724873979208675,0.0563130234764868,0.0437402179664758,"CAV1/THBS1/FGG/VTN/FAP/SERPINE1",6]
["BP","GO:0070482","response to oxygen levels","16/442","343/18870",0.00725494170575738,0.0563130234764868,0.0437402179664758,"KCNMB1/KCNA5/CAV1/THBS1/GUCY1B1/KCNK3/PTGIS/GUCY1A1/MIR145/CRYAB/KCNMA1/MYOCD/VEGFD/SFRP1/DDR2/SLC2A4",16]
["BP","GO:0010662","regulation of striated muscle cell apoptotic process","5/442","52/18870",0.00725532186904241,0.0563130234764868,0.0437402179664758,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0031103","axon regeneration","5/442","52/18870",0.00725532186904241,0.0563130234764868,0.0437402179664758,"FLNA/TNC/GAP43/MAP1B/RGMA",5]
["BP","GO:0050819","negative regulation of coagulation","5/442","52/18870",0.00725532186904241,0.0563130234764868,0.0437402179664758,"THBS1/FGG/VTN/FAP/SERPINE1",5]
["BP","GO:0002690","positive regulation of leukocyte chemotaxis","7/442","96/18870",0.00735851815337749,0.0568661466556783,0.0441698473297482,"IL6/THBS1/THBS4/FPR2/VEGFD/LBP/SERPINE1",7]
["BP","GO:0034109","homotypic cell-cell adhesion","7/442","96/18870",0.00735851815337749,0.0568661466556783,0.0441698473297482,"IL6/FLNA/FGL1/CTSG/FGG/MMRN1/MYL9",7]
["BP","GO:1901653","cellular response to peptide","17/442","374/18870",0.00737098933746168,0.0568661466556783,0.0441698473297482,"GLP2R/CAV1/FPR2/NR1H4/CYP1B1/FBN1/AGTR1/MAP1B/NR4A3/PRKCB/MIR145/AHSG/ACTN2/SORBS1/DDR2/GHR/SLC2A4",17]
["BP","GO:0030278","regulation of ossification","8/442","121/18870",0.00766679825595333,0.0589116777987454,0.0457586801171109,"GREM1/ZBTB16/CALCA/SFRP1/AHSG/DDR2/TPH1/TACR1",8]
["BP","GO:0045471","response to ethanol","8/442","121/18870",0.00766679825595333,0.0589116777987454,0.0457586801171109,"KCNMB1/TNC/RGS4/PRKCB/CDO1/TACR1/SLC2A4/CNR1",8]
["BP","GO:0060415","muscle tissue morphogenesis","6/442","74/18870",0.00773660909655658,0.0592820654833806,0.0460463726801786,"ANKRD1/MYLK/ACTC1/MIR145/NKX2-5/ZFPM2",6]
["BP","GO:0051153","regulation of striated muscle cell differentiation","7/442","97/18870",0.00777566444595503,0.0592820654833806,0.0460463726801786,"AKAP6/RGS4/PI16/MYOCD/RBM24/SMYD1/NKX2-5",7]
["BP","GO:0060419","heart growth","7/442","97/18870",0.00777566444595503,0.0592820654833806,0.0460463726801786,"AKAP6/RGS4/PI16/FGF2/RBP4/NKX2-5/ZFPM2",7]
["BP","GO:0030834","regulation of actin filament depolymerization","5/442","53/18870",0.00786060875213733,0.0592820654833806,0.0460463726801786,"CFL2/SVIL/LMOD1/ACTN2/TMOD1",5]
["BP","GO:0086002","cardiac muscle cell action potential involved in contraction","5/442","53/18870",0.00786060875213733,0.0592820654833806,0.0460463726801786,"FLNA/KCNA5/CAV1/KCNE4/ANK2",5]
["BP","GO:0090175","regulation of establishment of planar polarity","5/442","53/18870",0.00786060875213733,0.0592820654833806,0.0460463726801786,"SFRP2/PRICKLE2/RSPO3/SFRP1/GRHL3",5]
["BP","GO:2001238","positive regulation of extrinsic apoptotic signaling pathway","5/442","53/18870",0.00786060875213733,0.0592820654833806,0.0460463726801786,"CAV1/THBS1/SFRP1/TIMP3/SRPX",5]
["BP","GO:0030212","hyaluronan metabolic process","4/442","34/18870",0.00790016073073681,0.0592820654833806,0.0460463726801786,"LYVE1/ITIH5/HAS1/FGF2",4]
["BP","GO:0031128","developmental induction","4/442","34/18870",0.00790016073073681,0.0592820654833806,0.0460463726801786,"GDNF/FGF10/FGF2/AR",4]
["BP","GO:0070528","protein kinase C signaling","4/442","34/18870",0.00790016073073681,0.0592820654833806,0.0460463726801786,"ANKRD1/AZU1/AKAP12/SEZ6",4]
["BP","GO:0086019","cell-cell signaling involved in cardiac conduction","4/442","34/18870",0.00790016073073681,0.0592820654833806,0.0460463726801786,"FLNA/KCNA5/CASQ2/ANK2",4]
["BP","GO:0090075","relaxation of muscle","4/442","34/18870",0.00790016073073681,0.0592820654833806,0.0460463726801786,"ATP1A2/GUCY1A1/CHGA/PLN",4]
["BP","GO:0010002","cardioblast differentiation","3/442","18/18870",0.00801699309822324,0.0595769583817673,0.0462754259054523,"GREM1/MYOCD/NKX2-5",3]
["BP","GO:0030949","positive regulation of vascular endothelial growth factor receptor signaling pathway","3/442","18/18870",0.00801699309822324,0.0595769583817673,0.0462754259054523,"VTN/PRKCB/FGF10",3]
["BP","GO:0043116","negative regulation of vascular permeability","3/442","18/18870",0.00801699309822324,0.0595769583817673,0.0462754259054523,"FERMT2/AKAP12/SLIT2",3]
["BP","GO:0086103","G protein-coupled receptor signaling pathway involved in heart process","3/442","18/18870",0.00801699309822324,0.0595769583817673,0.0462754259054523,"CAV1/CHGA/PLN",3]
["BP","GO:1905209","positive regulation of cardiocyte differentiation","3/442","18/18870",0.00801699309822324,0.0595769583817673,0.0462754259054523,"MIR145/MYOCD/NKX2-5",3]
["BP","GO:0050806","positive regulation of synaptic transmission","10/442","174/18870",0.00805024690422467,0.0597085880425312,0.0463776670869273,"SCGN/ROR2/TACR2/SNAP25/LAMA2/RETN/TSHZ3/CALB2/TACR1/GIP",10]
["BP","GO:0032410","negative regulation of transporter activity","7/442","98/18870",0.0082100116380522,0.0606593552180703,0.0471161599066356,"ATP1A2/CAV1/KCNE4/CASQ2/GRP/PLN/ACTN2",7]
["BP","GO:0060993","kidney morphogenesis","7/442","98/18870",0.0082100116380522,0.0606593552180703,0.0471161599066356,"GDNF/GREM1/FGF10/ADAMTS16/FGF2/GREB1L/GLI3",7]
["BP","GO:0002685","regulation of leukocyte migration","12/442","230/18870",0.00824241917281546,0.0607819087561555,0.0472113513585854,"IL6/ELANE/THBS1/THBS4/LYVE1/FPR2/GREM1/VEGFD/SLIT2/LBP/SERPINE1/TACR1",12]
["BP","GO:0071774","response to fibroblast growth factor","8/442","123/18870",0.00843122421114787,0.0620551023356899,0.048200283602751,"THBS1/TNC/FGF10/FLRT2/FGF2/SFRP1/FGF7/SHISA2",8]
["BP","GO:0010659","cardiac muscle cell apoptotic process","5/442","54/18870",0.0085001023107172,0.0623229901239491,0.0484083610513701,"HAND2/SFRP2/MIR145/MYOCD/NKX2-5",5]
["BP","GO:0043303","mast cell degranulation","5/442","54/18870",0.0085001023107172,0.0623229901239491,0.0484083610513701,"FCER1A/NR4A3/SLC18A2/GRP/CHGA",5]
["BP","GO:0032412","regulation of monoatomic ion transmembrane transporter activity","12/442","231/18870",0.00851628574051881,0.0623229901239491,0.0484083610513701,"ATP1A2/CAV1/AKAP6/KCNE4/CASQ2/DMD/JPH2/ANK2/GRP/PLN/FHL1/ACTN2",12]
["BP","GO:0002687","positive regulation of leukocyte migration","9/442","149/18870",0.00856375670987424,0.0625512419759256,0.0485856519361487,"IL6/THBS1/THBS4/LYVE1/FPR2/VEGFD/LBP/SERPINE1/TACR1",9]
["BP","GO:0051588","regulation of neurotransmitter transport","7/442","99/18870",0.00866196435974315,0.0630289149055552,0.0489566765547684,"ATP1A2/GDNF/TACR2/PRKCB/P2RX1/SYT4/CHRNA3",7]
["BP","GO:2001237","negative regulation of extrinsic apoptotic signaling pathway","7/442","99/18870",0.00866196435974315,0.0630289149055552,0.0489566765547684,"THBS1/GDNF/FGG/SFRP2/FGF10/SERPINE1/AR",7]
["BP","GO:0034367","protein-containing complex remodeling","4/442","35/18870",0.00875782045785894,0.0633663770227759,0.0492187947230252,"NR1H4/AGTR1/MPO/APOB",4]
["BP","GO:0048048","embryonic eye morphogenesis","4/442","35/18870",0.00875782045785894,0.0633663770227759,0.0492187947230252,"MFAP5/FBN1/EFEMP1/ZEB1",4]
["BP","GO:0086004","regulation of cardiac muscle cell contraction","4/442","35/18870",0.00875782045785894,0.0633663770227759,0.0492187947230252,"ATP1A2/CAV1/ANK2/PLN",4]
["CC","GO:0062023","collagen-containing extracellular matrix","57/463","429/19886",{"v":6.82061742370797e-27,"d":"6.82E-27"},{"v":2.38039548087408e-24,"d":"2.38E-24"},{"v":1.83797690575709E-24,"d":"1.84E-24"},"ACTA2/FGL1/SPON1/ELANE/PRG4/THBS1/THBS4/ANGPTL1/CTSG/MFAP5/FGL2/CPA3/FGG/TNC/GREM1/CMA1/OGN/NCAM1/ITIH5/FBN1/PRELP/COL14A1/VTN/SFRP2/MMRN1/TNXB/EFEMP1/COL21A1/SNORC/LAMA2/DPT/ADAMTS8/FGF10/CCDC80/ANGPTL7/CILP/MYOC/COLEC12/ASPN/SSC5D/LUM/SERPINA3/SFRP1/SPARCL1/AHSG/HMCN1/F13A1/SERPINE1/CLC/PRTN3/TNN/ABI3BP/TIMP3/FCN1/SRPX/COL8A1/DCN",57]
["CC","GO:0043292","contractile fiber","36/463","245/19886",{"v":9.08618878323728e-19,"d":"9.09E-19"},{"v":1.58553994267491e-16,"d":"1.59E-16"},{"v":1.22424438342566E-16,"d":"1.22E-16"},"FLNA/SYNM/ACTA2/MYH11/ACTL8/KCNA5/ANKRD1/CFL2/SYNPO2/CALD1/FBXO32/PGM5/DES/SVIL/FERMT2/ABCC9/CASQ2/DMD/JPH2/ACTC1/ANK2/TPM2/CRYAB/LMOD1/MYOM1/LDB3/FBXL22/ASB2/PDLIM3/MYL9/NEXN/SYNC/FLNC/PPP1R12B/ACTN2/TMOD1",36]
["CC","GO:0030016","myofibril","34/463","236/19886",{"v":1.61793186980852e-17,"d":"1.62E-17"},{"v":1.88219407521058e-15,"d":"1.88E-15"},{"v":1.45330020586309e-15,"d":"1.45E-15"},"FLNA/SYNM/ACTL8/KCNA5/ANKRD1/CFL2/SYNPO2/CALD1/FBXO32/PGM5/DES/SVIL/FERMT2/ABCC9/CASQ2/DMD/JPH2/ACTC1/ANK2/TPM2/CRYAB/LMOD1/MYOM1/LDB3/FBXL22/ASB2/PDLIM3/MYL9/NEXN/SYNC/FLNC/PPP1R12B/ACTN2/TMOD1",34]
["CC","GO:0030017","sarcomere","31/463","216/19886",{"v":4.97865710818342e-16,"d":"4.98E-16"},{"v":4.34387832689003e-14,"d":"4.34E-14"},{"v":3.35404268340778e-14,"d":"3.35E-14"},"FLNA/ACTL8/KCNA5/ANKRD1/CFL2/SYNPO2/FBXO32/PGM5/DES/FERMT2/ABCC9/CASQ2/DMD/JPH2/ACTC1/ANK2/TPM2/CRYAB/LMOD1/MYOM1/LDB3/FBXL22/ASB2/PDLIM3/MYL9/NEXN/SYNC/FLNC/PPP1R12B/ACTN2/TMOD1",31]
["CC","GO:0031674","I band","25/463","146/19886",{"v":5.49335969039366e-15,"d":"5.49E-15"},{"v":3.83436506389477E-13,"d":"3.83E-13"},{"v":2.96063174892795e-13,"d":"2.96E-13"},"FLNA/KCNA5/ANKRD1/CFL2/SYNPO2/FBXO32/PGM5/DES/FERMT2/CASQ2/DMD/JPH2/ACTC1/ANK2/CRYAB/LDB3/FBXL22/ASB2/PDLIM3/MYL9/NEXN/SYNC/FLNC/PPP1R12B/ACTN2",25]
["CC","GO:0030018","Z disc","22/463","132/19886",{"v":4.27446528716402E-13,"d":"4.27E-13"},{"v":2.48631397536707e-11,"d":"2.49E-11"},{"v":1.91975984827016E-11,"d":"1.92E-11"},"FLNA/KCNA5/CFL2/SYNPO2/FBXO32/PGM5/DES/CASQ2/DMD/JPH2/ANK2/CRYAB/LDB3/FBXL22/ASB2/PDLIM3/MYL9/NEXN/SYNC/FLNC/PPP1R12B/ACTN2",22]
["CC","GO:0042383","sarcolemma","17/463","141/19886",{"v":3.24155353423238e-08,"d":"3.24E-08"},{"v":1.616145976353e-06,"d":"1.62E-06"},{"v":1.24787624776465E-6,"d":"1.25E-06"},"ATP1A2/SYNM/BVES/CAV1/AKAP6/PGM5/DES/SGCD/DMD/ANK2/LAMA2/POPDC2/SSPN/SYNC/FLNC/SGCA/SLC2A4",17]
["CC","GO:0034774","secretory granule lumen","26/463","322/19886",{"v":4.25596280116152e-08,"d":"4.26E-08"},{"v":1.73060620926119E-6,"d":"1.73E-06"},{"v":1.33625453045051E-6,"d":"1.34E-06"},"ELANE/THBS1/CTSG/PCSK1/FGG/AZU1/SCG3/PTX3/MPO/HP/ALB/MMRN1/GRP/RETN/RNASE2/MNDA/VEGFD/SERPINA3/AHSG/F13A1/ACTN2/SERPINE1/PRTN3/TIMP3/FCN1/GIP",26]
["CC","GO:0044853","plasma membrane raft","15/463","112/19886",{"v":5.08247804106364e-08,"d":"5.08E-08"},{"v":1.73060620926119E-6,"d":"1.73E-06"},{"v":1.33625453045051E-6,"d":"1.34E-06"},"ATP1A2/KCNA5/MS4A1/BVES/CAV1/AKAP6/PTGIS/TRPC4/HTR2A/KCNMA1/MS4A4A/CR1/SORBS1/PRTN3/CHRNA3",15]
["CC","GO:0060205","cytoplasmic vesicle lumen","26/463","325/19886",{"v":5.12859093961458e-08,"d":"5.13E-08"},{"v":1.73060620926119E-6,"d":"1.73E-06"},{"v":1.33625453045051E-6,"d":"1.34E-06"},"ELANE/THBS1/CTSG/PCSK1/FGG/AZU1/SCG3/PTX3/MPO/HP/ALB/MMRN1/GRP/RETN/RNASE2/MNDA/VEGFD/SERPINA3/AHSG/F13A1/ACTN2/SERPINE1/PRTN3/TIMP3/FCN1/GIP",26]
["CC","GO:0031983","vesicle lumen","26/463","326/19886",{"v":5.45463275125305e-08,"d":"5.45E-08"},{"v":1.73060620926119E-6,"d":"1.73E-06"},{"v":1.33625453045051E-6,"d":"1.34E-06"},"ELANE/THBS1/CTSG/PCSK1/FGG/AZU1/SCG3/PTX3/MPO/HP/ALB/MMRN1/GRP/RETN/RNASE2/MNDA/VEGFD/SERPINA3/AHSG/F13A1/ACTN2/SERPINE1/PRTN3/TIMP3/FCN1/GIP",26]
["CC","GO:0032432","actin filament bundle","12/463","79/19886",{"v":2.74538118326421e-07,"d":"2.75E-07"},{"v":7.98448360799341e-06,"d":"7.98E-06"},{"v":6.16506651680384e-06,"d":"6.17E-06"},"FLNA/ACTA2/ACTL8/MYLK/SYNPO2/PGM5/FERMT2/CRYAB/LDB3/PDLIM3/MYL9/SORBS1",12]
["CC","GO:0005788","endoplasmic reticulum lumen","23/463","313/19886",{"v":1.34190834134876E-6,"d":"1.34E-06"},{"v":3.60250777792858e-05,"d":"3.60E-05"},{"v":2.78160757396989e-05,"d":"2.78E-05"},"IL6/CHGB/SPON1/THBS1/ERP27/FGG/TNC/SCG3/FBN1/COL14A1/CASQ2/VTN/ALB/COL21A1/AFP/SERPIND1/BCHE/SPARCL1/AHSG/COL8A1/APOB/GIP/CHRDL1",23]
["CC","GO:0098637","protein complex involved in cell-matrix adhesion","6/463","17/19886",{"v":1.53495414117784E-6,"d":"1.53E-06"},{"v":3.62891169075792e-05,"d":"3.63E-05"},{"v":2.80199485095469E-5,"d":"2.80E-05"},"TNC/VTN/MMRN1/TNXB/LAMA2/TNN",6]
["CC","GO:0043025","neuronal cell body","30/463","489/19886",{"v":1.5597041650822e-06,"d":"1.56E-06"},{"v":3.62891169075792e-05,"d":"3.63E-05"},{"v":2.80199485095469E-5,"d":"2.80E-05"},"ATP1A2/FLNA/TMEM100/STMN2/PCSK1/ROR2/SNAP25/KCNN3/GAP43/MAP1B/CALCA/HTR2A/PDE1A/CRYAB/DNER/TAC1/AKAP12/CHRM2/PTPRN/ADCYAP1/NEGR1/GHR/TNN/APOB/SYT4/CHRNA3/GIP/GFRA1/ASCL1/SEZ6",30]
["CC","GO:0043034","costamere","6/463","18/19886",{"v":2.25725548642417E-6,"d":"2.26E-06"},{"v":4.92363852976273E-5,"d":"4.92E-05"},{"v":3.80169345081966e-05,"d":"3.80E-05"},"SYNM/PGM5/SVIL/DMD/ANK2/FLNC",6]
["CC","GO:0031093","platelet alpha granule lumen","10/463","67/19886",{"v":3.21392352979515E-6,"d":"3.21E-06"},{"v":6.59799595234416e-05,"d":"6.60E-05"},{"v":5.0945165549694e-05,"d":"5.09E-05"},"THBS1/FGG/ALB/MMRN1/VEGFD/SERPINA3/AHSG/F13A1/ACTN2/SERPINE1",10]
["CC","GO:0045121","membrane raft","21/463","286/19886",{"v":3.90972428147371e-06,"d":"3.91E-06"},{"v":7.58052096796847e-05,"d":"7.58E-05"},{"v":5.85315447986707e-05,"d":"5.85E-05"},"ATP1A2/OLR1/KCNA5/MS4A1/BVES/CAV1/AKAP6/PTGIS/DMD/TRPC4/HTR2A/KCNMA1/MS4A4A/CR1/SORBS1/PRTN3/SGCA/CHRNA3/SLC2A4/CNR1/CLIP3",21]
["CC","GO:0098857","membrane microdomain","21/463","287/19886",{"v":4.12906144666391e-06,"d":"4.13E-06"},{"v":7.58443392045108e-05,"d":"7.58E-05"},{"v":5.85617579139037e-05,"d":"5.86E-05"},"ATP1A2/OLR1/KCNA5/MS4A1/BVES/CAV1/AKAP6/PTGIS/DMD/TRPC4/HTR2A/KCNMA1/MS4A4A/CR1/SORBS1/PRTN3/SGCA/CHRNA3/SLC2A4/CNR1/CLIP3",21]
["CC","GO:0001725","stress fiber","10/463","70/19886",{"v":4.83078072320539e-06,"d":"4.83E-06"},{"v":8.02829748761277e-05,"d":"8.03E-05"},{"v":6.19889656712071e-05,"d":"6.20E-05"},"ACTA2/ACTL8/MYLK/SYNPO2/PGM5/FERMT2/LDB3/PDLIM3/MYL9/SORBS1",10]
["CC","GO:0097517","contractile actin filament bundle","10/463","70/19886",{"v":4.83078072320539e-06,"d":"4.83E-06"},{"v":8.02829748761277e-05,"d":"8.03E-05"},{"v":6.19889656712071e-05,"d":"6.20E-05"},"ACTA2/ACTL8/MYLK/SYNPO2/PGM5/FERMT2/LDB3/PDLIM3/MYL9/SORBS1",10]
["CC","GO:0042641","actomyosin","10/463","76/19886",{"v":1.02634609379661E-5,"d":"1.03E-05"},0.00016281581215228,0.000125715119622934,"ACTA2/ACTL8/MYLK/SYNPO2/PGM5/FERMT2/LDB3/PDLIM3/MYL9/SORBS1",10]
["CC","GO:0090665","glycoprotein complex","6/463","23/19886",{"v":1.11179480674671E-5,"d":"1.11E-05"},0.000168702777197653,0.000130260627243551,"FLNA/PGM5/SGCD/DMD/SSPN/SGCA",6]
["CC","GO:0030667","secretory granule membrane","21/463","314/19886",{"v":1.63545077972402E-5,"d":"1.64E-05"},0.000231806043941854,0.000178984609407675,"CD33/RAB9B/OLR1/FPR1/CAV1/FPR2/MOXD1/AZU1/KIF1A/SCG3/GLIPR1/SNAP25/MCEMP1/MGAM/NFASC/SLC18A2/CPE/P2RX1/CXCR1/CR1/SYT4",21]
["CC","GO:0005775","vacuolar lumen","15/463","176/19886",{"v":1.66050174743448e-05,"d":"1.66E-05"},0.000231806043941854,0.000178984609407675,"ELANE/CTSG/AZU1/OGN/PRELP/MPO/RETN/RNASE2/MNDA/LUM/SERPINA3/PRTN3/APOB/DCN/OMD",15]
["CC","GO:0005901","caveola","10/463","81/19886",{"v":1.82095076940754E-5,"d":"1.82E-05"},2.42350951796719E-4,1.87126658603408E-4,"ATP1A2/KCNA5/BVES/CAV1/AKAP6/PTGIS/TRPC4/HTR2A/KCNMA1/SORBS1",10]
["CC","GO:0098992","neuronal dense core vesicle","6/463","25/19886",{"v":1.87492140358493e-05,"d":"1.87E-05"},2.42350951796719E-4,1.87126658603408E-4,"KIF1A/CALCA/GRP/NPY/CHGA/SYT4",6]
["CC","GO:0150034","distal axon","19/463","276/19886",{"v":2.76722900735163e-05,"d":"2.77E-05"},0.000344915329844899,0.000266319784166172,"FLNA/SCGN/STMN2/PCSK1/SNAP25/GAP43/MAP1B/CALCA/DPYSL3/SLC18A2/PRKCB/NTS/TSHZ3/CALB2/CHRM2/PTPRN/BOC/TNN/CNR1",19]
["CC","GO:0016010","dystrophin-associated glycoprotein complex","5/463","18/19886",{"v":4.46439947249825e-05,"d":"4.46E-05"},0.000535517642346544,0.00041348971932051,"PGM5/SGCD/DMD/SSPN/SGCA",5]
["CC","GO:0005604","basement membrane","10/463","90/19886",{"v":4.60330351587287e-05,"d":"4.60E-05"},0.000535517642346544,0.00041348971932051,"ACTA2/THBS4/TNC/FBN1/VTN/LAMA2/CCDC80/HMCN1/TIMP3/COL8A1",10]
["CC","GO:0044306","neuron projection terminus","12/463","129/19886",{"v":4.91373018800222e-05,"d":"4.91E-05"},0.000552487158797214,4.26592407335505E-4,"SCGN/PCSK1/SCRG1/DMD/CALCA/SLC18A2/PRKCB/NTS/CALB2/CHRM2/PTPRN/TNN",12]
["CC","GO:0031091","platelet alpha granule","10/463","91/19886",{"v":5.06578483710912e-05,"d":"5.07E-05"},0.000552487158797214,4.26592407335505E-4,"THBS1/FGG/ALB/MMRN1/VEGFD/SERPINA3/AHSG/F13A1/ACTN2/SERPINE1",10]
["CC","GO:0016529","sarcoplasmic reticulum","9/463","75/19886",{"v":5.98816785295259e-05,"d":"5.99E-05"},0.000633294115357714,0.000488985955456416,"THBS1/THBS4/AKAP6/SGCD/CASQ2/JPH2/PLN/IRAG1/SLC2A4",9]
["CC","GO:0030055","cell-substrate junction","24/463","431/19886",{"v":8.1194299834075e-05,"d":"8.12E-05"},0.000833435607120358,0.000643521385681833,"FLNA/CAV1/SYNPO2/TNC/PGM5/SVIL/FERMT2/CNN1/DMD/NFASC/ACTC1/TNS1/FLRT2/AKAP12/NEXN/FHL1/FAP/PHLDB2/HMCN1/FLNC/ACTN2/SORBS1/DDR2/LIMS2",24]
["CC","GO:0031045","dense core granule","6/463","37/19886",0.00019428909657155,0.0019373398486706,0.00149587996157344,"KIF1A/CALCA/GRP/NPY/CHGA/SYT4",6]
["CC","GO:0035578","azurophil granule lumen","9/463","91/19886",0.000269316800798563,0.00261087676329718,2.01593862586059E-3,"ELANE/CTSG/AZU1/MPO/RETN/RNASE2/MNDA/SERPINA3/PRTN3",9]
["CC","GO:0036379","myofilament","5/463","26/19886",0.000293920453072506,2.77238481411634E-3,0.00214064398254798,"ACTL8/TPM2/LMOD1/MYOM1/TMOD1",5]
["CC","GO:0043679","axon terminus","10/463","113/19886",0.000310848545509619,2.8391918559028E-3,0.00219222776387006,"SCGN/PCSK1/CALCA/SLC18A2/PRKCB/NTS/CALB2/CHRM2/PTPRN/TNN",10]
["CC","GO:0016528","sarcoplasm","9/463","93/19886",0.000317273588481975,2.8391918559028E-3,0.00219222776387006,"THBS1/THBS4/AKAP6/SGCD/CASQ2/JPH2/PLN/IRAG1/SLC2A4",9]
["CC","GO:0098636","protein complex involved in cell adhesion","7/463","57/19886",0.000342878136833703,2.99161174387405E-3,2.30991586919547E-3,"TNC/VTN/MMRN1/TNXB/LAMA2/ITGA9/TNN",7]
["CC","GO:0005925","focal adhesion","22/463","421/19886",0.000385272225905732,3.27951236197806E-3,0.00253221283265385,"FLNA/CAV1/SYNPO2/TNC/PGM5/SVIL/FERMT2/CNN1/NFASC/ACTC1/TNS1/FLRT2/AKAP12/NEXN/FHL1/FAP/PHLDB2/FLNC/ACTN2/SORBS1/DDR2/LIMS2",22]
["CC","GO:0005884","actin filament","10/463","118/19886",0.000440214831762811,0.00365797562583859,0.00282443601331528,"FLNA/ACTL8/DPYSL3/ACTC1/TPM2/LMOD1/LDB3/PDLIM3/ACTN2/TMOD1",10]
["CC","GO:0072562","blood microparticle","11/463","144/19886",0.000563099440436313,0.00457027220261101,0.0035288483904944,"ACTG2/FGG/VTN/HP/ALB/ACTC1/BCHE/SERPINA3/AHSG/F13A1/HSPA7",11]
["CC","GO:0014704","intercalated disc","6/463","50/19886",0.00102933928450387,0.00786993621839385,0.0060766209377434,"ATP1A2/KCNA5/AKAP6/PGM5/DES/ANK2",6]
["CC","GO:0005766","primary lysosome","11/463","155/19886",0.00103729818351323,0.00786993621839385,0.0060766209377434,"FPR1/ELANE/CTSG/AZU1/GLIPR1/MPO/RETN/RNASE2/MNDA/SERPINA3/PRTN3",11]
["CC","GO:0042582","azurophil granule","11/463","155/19886",0.00103729818351323,0.00786993621839385,0.0060766209377434,"FPR1/ELANE/CTSG/AZU1/GLIPR1/MPO/RETN/RNASE2/MNDA/SERPINA3/PRTN3",11]
["CC","GO:0005865","striated muscle thin filament","4/463","22/19886",0.00152075854507622,0.0112924411113106,0.00871924272204952,"ACTL8/TPM2/LMOD1/TMOD1",4]
["CC","GO:0070820","tertiary granule","11/463","164/19886",0.00163601213327841,0.0118951715523784,0.0091846295201595,"CD33/OLR1/FPR1/FPR2/PTX3/SNAP25/MCEMP1/HP/MGAM/NFASC/CR1",11]
["CC","GO:0005614","interstitial matrix","3/463","11/19886",1.79995989658699E-3,0.0128201225287522,0.00989881275029577,"TNC/COL14A1/CCDC80",3]
["CC","GO:0009897","external side of plasma membrane","19/463","387/19886",1.93693103435218E-3,0.0135197786197782,0.0104390388377717,"CD33/MS4A1/THBS1/FGG/TNFRSF13C/NCAM1/CLEC17A/P2RX1/CD79B/FOLR2/MS4A2/ITGA9/CXCR1/IGSF21/GHR/FCN1/GFRA1/SLC2A4/LY6G6C",19]
["CC","GO:0005938","cell cortex","16/463","305/19886",2.23274700203482E-3,0.0152789941903951,0.0117973835401633,"FLNA/CAV1/GUCY1B1/CALD1/FERMT2/SNAP25/TRPC4/PRKCB/MYL9/AKAP12/PDZD4/PHLDB2/HMCN1/ACTN2/TMOD1/CLIP3",16]
["CC","GO:0005796","Golgi lumen","8/463","106/19886",3.35395532368647E-3,0.0225102001532034,0.0173808211106019,"OGN/PRELP/VTN/MMP16/LUM/CGA/DCN/OMD",8]
["CC","GO:0043195","terminal bouton","5/463","45/19886",3.80053596252881E-3,0.0250261707721237,0.0193234797697592,"SCGN/CALCA/SLC18A2/CALB2/TNN",5]
["CC","GO:0005581","collagen trimer","7/463","86/19886",0.00391832401054905,0.025323982957067,0.0195534297602447,"C1QTNF7/COL14A1/COL21A1/COLEC12/LUM/FCN1/COL8A1",7]
["CC","GO:0042581","specific granule","10/463","160/19886",0.00434822661527791,0.0275914743405817,0.0213042299236583,"CD33/OLR1/ELANE/FPR2/PTX3/SNAP25/MCEMP1/HP/RETN/P2RX1",10]
["CC","GO:0097060","synaptic membrane","18/463","393/19886",0.00519121086808593,0.0323523677314641,0.0249802628238721,"NRXN3/SNAP25/DMD/PTPRD/HTR2A/ANK2/CRYAB/P2RX1/KCNMA1/ADORA3/SSPN/CHRM2/GRIK5/ACTN2/IGSF21/HTR3A/CHRNA3/CNR1",18]
["CC","GO:0019814","immunoglobulin complex","10/463","165/19886",0.00539019909810323,0.032434129055828,0.0250433932688644,"IGLV3-22/IGLV3-12/IGKV1D-17/IGLV1-51/CD79B/IGHV3-64D/IGHV3-64/IGLL1/IGLV8-61/IGKV6D-21",10]
["CC","GO:0042734","presynaptic membrane","10/463","165/19886",0.00539019909810323,0.032434129055828,0.0250433932688644,"NRXN3/SNAP25/PTPRD/HTR2A/P2RX1/ADORA3/CHRM2/GRIK5/IGSF21/CNR1",10]
["CC","GO:0097440","apical dendrite","3/463","16/19886",0.0056027643716059,0.0331417756896688,0.0255897891013579,"FLNA/MAP1B/SEZ6",3]
["CC","GO:0034703","cation channel complex","11/463","193/19886",0.005698004548932,0.0331433931262878,0.0255910379741507,"KCNMB1/KCNA5/AKAP6/ABCC9/CASQ2/TRPC1/TRPC4/KCNMA1/GRIK5/HTR3A/SCN7A",11]
["CC","GO:0044291","cell-cell contact zone","6/463","72/19886",0.00659913335528838,0.0377556973933713,0.0291523406204284,"ATP1A2/KCNA5/AKAP6/PGM5/DES/ANK2",6]
["CC","GO:0070821","tertiary granule membrane","6/463","73/19886",0.0070524741666994,0.0396986045835176,0.0306525192983879,"CD33/OLR1/FPR2/SNAP25/MCEMP1/MGAM",6]
["CC","GO:0098978","glutamatergic synapse","18/463","407/19886",0.00736179323460183,0.0407819974424768,0.0314890404019727,"FLNA/GUCY1B1/FILIP1/ROR2/SNAP25/PTPRD/ACTC1/HTR2A/NPTX2/GUCY1A1/P2RX1/CHRM2/SPARCL1/ACTN2/NPTX1/EPHA7/SYT4/CNR1",18]
["CC","GO:0032154","cleavage furrow","5/463","53/19886",0.00767405071910487,0.0415622729944661,0.0320915152664253,"MYLK/SVIL/PSD/HMCN1/HTR3A",5]
["CC","GO:0031672","A band","4/463","34/19886",0.00774082448321002,0.0415622729944661,0.0320915152664253,"ANK2/CRYAB/MYOM1/PPP1R12B",4]
["CC","GO:0090533","cation-transporting ATPase complex","3/463","19/19886",0.00920680664115132,0.0486844775418456,0.0375907894758332,"ATP1A2/ABCC9/PLN",3]
["MF","GO:0005201","extracellular matrix structural constituent","27/429","166/18496",{"v":1.45380704581607e-15,"d":"1.45E-15"},{"v":8.63561385214748e-13,"d":"8.64E-13"},{"v":7.34555138938648E-13,"d":"7.35E-13"},"SPON1/PRG4/THBS1/MFAP5/FGL2/FGG/TNC/OGN/FBN1/PRELP/COL14A1/VTN/MMRN1/TFPI2/TNXB/EFEMP1/COL21A1/LAMA2/DPT/CILP/ASPN/LUM/HMCN1/ABI3BP/SRPX/COL8A1/DCN",27]
["MF","GO:0005539","glycosaminoglycan binding","28/429","240/18496",{"v":2.20145928437772e-12,"d":"2.20E-12"},{"v":6.53833407460182e-10,"d":"6.54E-10"},{"v":5.56158135000687e-10,"d":"5.56E-10"},"ELANE/THBS1/THBS4/CTSG/LYVE1/AZU1/CCN4/FBN1/PRELP/MPO/VTN/TNXB/DPYSL3/RSPO1/ADAMTS8/FGF10/CCDC80/SERPIND1/GREM2/RSPO3/FGF2/SLIT2/SFRP1/EPYC/FGF7/SUSD5/APOB/DCN",28]
["MF","GO:0008201","heparin binding","23/429","174/18496",{"v":1.62683918295505e-11,"d":"1.63E-11"},{"v":3.22114158225101e-09,"d":"3.22E-09"},{"v":2.73993967655588e-09,"d":"2.74E-09"},"ELANE/THBS1/THBS4/CTSG/AZU1/CCN4/FBN1/PRELP/MPO/VTN/TNXB/RSPO1/ADAMTS8/FGF10/CCDC80/SERPIND1/GREM2/RSPO3/FGF2/SLIT2/SFRP1/FGF7/APOB",23]
["MF","GO:1901681","sulfur compound binding","25/429","275/18496",{"v":6.66572002747275e-09,"d":"6.67E-09"},{"v":9.89859424079703e-07,"d":"9.90E-07"},{"v":8.41985687680768e-07,"d":"8.42E-07"},"ELANE/THBS1/THBS4/CTSG/AZU1/CCN4/FBN1/PRELP/MPO/VTN/TNXB/DPYSL3/RSPO1/ADAMTS8/FGF10/CCDC80/SERPIND1/P2RX1/GREM2/RSPO3/FGF2/SLIT2/SFRP1/FGF7/APOB",25]
["MF","GO:0005178","integrin binding","15/429","154/18496",{"v":3.08117429344161E-6,"d":"3.08E-06"},0.000366043506060863,0.000311360770705679,"THBS1/THBS4/CCN4/FBN1/FERMT2/VTN/SFRP2/TNXB/ADAMTS8/FGF2/FAP/ITGA9/ACTN2/TNN/GFRA1",15]
["MF","GO:0008307","structural constituent of muscle","8/429","42/18496",{"v":4.63798702196701e-06,"d":"4.64E-06"},0.000459160715174734,0.000390567328165643,"SYNM/MYH11/DMD/TPM2/MYOM1/MYL9/NEXN/ACTN2",8]
["MF","GO:0030021","extracellular matrix structural constituent conferring compression resistance","6/429","22/18496",{"v":8.18417794077816e-06,"d":"8.18E-06"},0.000694485956688889,0.000590737655875717,"PRG4/OGN/PRELP/ASPN/LUM/DCN",6]
["MF","GO:0008528","G protein-coupled peptide receptor activity","12/429","125/18496",{"v":3.44464047131447e-05,"d":"3.44E-05"},0.0022149313829863,0.00188404583348117,"GLP2R/FPR1/VIPR2/MLNR/FPR2/TACR2/AGTR1/GRPR/SCTR/NPY1R/TACR1/NPR3",12]
["MF","GO:0003779","actin binding","25/429","438/18496",{"v":3.57904999996176e-05,"d":"3.58E-05"},0.0022149313829863,0.00188404583348117,"FLNA/MYH11/MYLK/CFL2/SYNPO2/CALD1/SVIL/FERMT2/CNN1/MAP1B/DMD/TPM2/CORO6/LMOD1/LDB3/TNS1/KCNMA1/PDLIM3/CAP2/TAGLN/NEXN/FLNC/ACTN2/TMOD1/SORBS1",25]
["MF","GO:0005179","hormone activity","12/429","126/18496",{"v":3.72884071209815e-05,"d":"3.73E-05"},0.0022149313829863,0.00188404583348117,"CHGB/FBN1/CALCA/NTS/CARTPT/GRP/RETN/NPY/VIP/ADCYAP1/CGA/GIP",12]
["MF","GO:0005184","neuropeptide hormone activity","6/429","30/18496",{"v":5.56543112019888E-5,"d":"5.57E-05"},2.69567205442266E-3,0.00229296931795654,"NTS/CARTPT/GRP/NPY/VIP/ADCYAP1",6]
["MF","GO:0160041","neuropeptide activity","6/429","30/18496",{"v":5.56543112019888E-5,"d":"5.57E-05"},2.69567205442266E-3,0.00229296931795654,"NTS/CARTPT/GRP/NPY/VIP/ADCYAP1",6]
["MF","GO:0001653","peptide receptor activity","12/429","132/18496",{"v":5.89961897432569e-05,"d":"5.90E-05"},2.69567205442266E-3,0.00229296931795654,"GLP2R/FPR1/VIPR2/MLNR/FPR2/TACR2/AGTR1/GRPR/SCTR/NPY1R/TACR1/NPR3",12]
["MF","GO:0038024","cargo receptor activity","8/429","64/18496",1.11433077051363E-4,0.00472794626917925,0.00402164488606422,"OLR1/PRG4/LYVE1/VTN/FOLR2/COLEC12/SSC5D/MRC1",8]
["MF","GO:0008179","adenylate cyclase binding","4/429","12/18496",1.21861687094361E-4,0.00482572280893671,0.00410481472317849,"ADCY5/AKAP6/CAP2/AKAP12",4]
["MF","GO:0030414","peptidase inhibitor activity","13/429","175/18496",0.000230267828999422,0.00854869315160356,0.00727161565261334,"THBS1/RECK/SERPINA6/ITIH5/PI16/TFPI2/SERPINA9/PI15/SERPIND1/SERPINA3/AHSG/SERPINE1/TIMP3",13]
["MF","GO:0061134","peptidase regulator activity","15/429","228/18496",0.000295808173496901,0.0103358855915976,0.00879182187483048,"CAV1/THBS1/RECK/SERPINA6/ITIH5/PI16/SFRP2/TFPI2/SERPINA9/PI15/SERPIND1/SERPINA3/AHSG/SERPINE1/TIMP3",15]
["MF","GO:0001968","fibronectin binding","5/429","29/18496",0.000491769038177901,0.0162283782598707,0.0138040431769235,"THBS1/SFRP2/CCDC80/MYOC/SSC5D",5]
["MF","GO:0004181","metallocarboxypeptidase activity","5/429","31/18496",0.000677322994046794,0.0211752557086208,0.0180119134150948,"CPA3/CPE/CPA1/CPA2/CPXM2",5]
["MF","GO:0017147","Wnt-protein binding","5/429","32/18496",0.000787629143937263,0.0224611628500101,0.0191057206592324,"APCDD1L/RECK/ROR2/SFRP2/SFRP1",5]
["MF","GO:0042562","hormone binding","8/429","85/18496",0.000794081514899348,0.0224611628500101,0.0191057206592324,"ATP1A2/GLP2R/VIPR2/MLNR/SCTR/GHR/AR/NPR3",8]
["MF","GO:0005518","collagen binding","7/429","68/18496",0.00098568587603122,0.0265890747600017,0.0226169694928244,"THBS1/COL14A1/VTN/TNXB/LUM/SPARCL1/DDR2",7]
["MF","GO:0036122","BMP binding","4/429","20/18496",0.00102954329878794,0.0265890747600017,0.0226169694928244,"CHRDL2/GREM1/GREM2/CHRDL1",4]
["MF","GO:0061135","endopeptidase regulator activity","12/429","184/18496",1.25498733996384E-3,0.0310609366641049,0.0264207861045018,"THBS1/RECK/SERPINA6/ITIH5/SFRP2/TFPI2/SERPINA9/SERPIND1/SERPINA3/AHSG/SERPINE1/TIMP3",12]
["MF","GO:0001664","G protein-coupled receptor binding","16/429","291/18496",0.00132318239233699,0.031438813641927,0.0267422125609161,"FLNA/FPR1/AGTR1/ZBTB16/CALCA/NTS/RSPO1/NPY/MYOC/RSPO3/TAC1/SFRP1/GNAO1/FCN1/GIP/PROK2",16]
["MF","GO:0070851","growth factor receptor binding","10/429","138/18496",1.43509783972605E-3,0.0327864660306643,0.0278885410149191,"IL6/MS4A1/GDNF/GREM1/EFEMP1/FGF10/FLRT2/FGF2/VEGFD/FGF7",10]
["MF","GO:0050840","extracellular matrix binding","6/429","55/18496",1.66815085142438E-3,0.0366993187313363,0.0312168580383509,"THBS1/VTN/SLIT2/SSC5D/SPARCL1/DCN",6]
["MF","GO:0004857","enzyme inhibitor activity","19/429","386/18496",0.00178676994772236,0.0379050481766816,0.0322424652220577,"THBS1/RECK/SERPINA6/ITIH5/PI16/TFPI2/SERPINA9/PI15/SERPIND1/PPP1R14A/PLN/SLIT2/SCG5/SERPINA3/AHSG/PPP1R12B/SERPINE1/PPP1R1A/TIMP3",19]
["MF","GO:0030246","carbohydrate binding","15/429","273/18496",0.00186346186986324,0.0379151643058059,0.0322510701165813,"CD33/SIGLEC6/OLR1/PRG4/PTX3/VTN/MGAM/NPTX2/CLEC17A/COLEC12/CHI3L2/CLC/FCN1/GALNT15/MRC1",15]
["MF","GO:0004866","endopeptidase inhibitor activity","11/429","168/18496",0.00191490728817201,0.0379151643058059,0.0322510701165813,"THBS1/RECK/SERPINA6/ITIH5/TFPI2/SERPINA9/SERPIND1/SERPINA3/AHSG/SERPINE1/TIMP3",11]
["MF","GO:0019865","immunoglobulin binding","4/429","24/18496",0.00209854154221355,0.0396724882772868,0.0337458698796698,"MS4A1/FCER1A/FCGR2C/MS4A2",4]
["MF","GO:0005267","potassium channel activity","9/429","122/18496",0.00216729728931156,0.0396724882772868,0.0337458698796698,"KCNMB1/KCNA5/KCNK3/KCNE4/ABCC9/SNAP25/KCNN3/KCNMA1/GRIK5",9]
["MF","GO:0004875","complement receptor activity","3/429","12/18496",0.00233229157831726,0.0396724882772868,0.0337458698796698,"FPR1/FPR2/CR1",3]
["MF","GO:0015269","calcium-activated potassium channel activity","3/429","12/18496",0.00233229157831726,0.0396724882772868,0.0337458698796698,"KCNMB1/KCNN3/KCNMA1",3]
["MF","GO:0004867","serine-type endopeptidase inhibitor activity","8/429","101/18496",0.00242113629331498,0.0396724882772868,0.0337458698796698,"RECK/SERPINA6/ITIH5/TFPI2/SERPINA9/SERPIND1/SERPINA3/SERPINE1",8]
["MF","GO:0005104","fibroblast growth factor receptor binding","4/429","25/18496",0.00245303475108357,0.0396724882772868,0.0337458698796698,"FGF10/FLRT2/FGF2/FGF7",4]
["MF","GO:0042056","chemoattractant activity","5/429","41/18496",0.00247118192972999,0.0396724882772868,0.0337458698796698,"GDNF/FGF10/FGF2/VEGFD/FGF7",5]
["MF","GO:0005044","scavenger receptor activity","4/429","27/18496",3.2812607583429E-3,0.0512912865909391,0.0436289519114846,"PRG4/VTN/COLEC12/SSC5D",4]
["MF","GO:0015079","potassium ion transmembrane transporter activity","10/429","157/18496",0.00369195724391729,0.0558211882074095,0.0474821377628151,"ATP1A2/KCNMB1/KCNA5/KCNK3/KCNE4/ABCC9/SNAP25/KCNN3/KCNMA1/GRIK5",10]
["MF","GO:0051393","alpha-actinin binding","4/429","28/18496",0.00375900257288953,0.0558211882074095,0.0474821377628151,"KCNA5/SYNPO2/LDB3/PDLIM3",4]
["MF","GO:0044325","transmembrane transporter binding","9/429","133/18496",0.00387449190435097,0.0561328827118165,0.0477472686543894,"FLNA/CAV1/AKAP6/KCNE4/ABCC9/SNAP25/ANK2/FHL1/ACTN2",9]
["MF","GO:0008237","metallopeptidase activity","11/429","185/18496",0.00402973387290251,0.0569919504881926,0.0484780014785264,"PAPPA2/MMP19/CPA3/ADAMTS8/CPE/ADAMTS16/CPA1/MMP16/CPA2/CPXM2/ADAM33",11]
["MF","GO:0004180","carboxypeptidase activity","5/429","47/18496",0.00451659596927244,0.0582212927463835,0.0495236939894809,"CPA3/CPE/CPA1/CPA2/CPXM2",5]
["MF","GO:0005523","tropomyosin binding","3/429","15/18496",0.00458066710654759,0.0582212927463835,0.0495236939894809,"CALD1/LMOD1/TMOD1",3]
["MF","GO:0031005","filamin binding","3/429","15/18496",0.00458066710654759,0.0582212927463835,0.0495236939894809,"SYNPO2/HSPB7/DPYSL3",3]
["MF","GO:0051371","muscle alpha-actinin binding","3/429","15/18496",0.00458066710654759,0.0582212927463835,0.0495236939894809,"SYNPO2/LDB3/PDLIM3",3]
["MF","GO:0008083","growth factor activity","10/429","162/18496",0.0046067352846465,0.0582212927463835,0.0495236939894809,"IL6/BMP3/THBS4/GDNF/OGN/EFEMP1/FGF10/FGF2/VEGFD/FGF7",10]

{"sheet":"table S9","index":8,"n_rows":22,"n_cols":11,"rows_kept":22,"merged":[[0,0,0,10]]}
["KEGG analysis of DEGs between high- and low-risk groups for MRLs in GC"]
[]
["category","subcategory","ID","Description","GeneRatio","BgRatio","pvalue","p.adjust","qvalue","geneID","Count"]
["NA","NA","hsa04820","Cytoskeleton in muscle cells","28/228","232/8846",{"v":6.53554464590943e-12,"d":"6.54E-12"},{"v":1.64042170612327E-9,"d":"1.64E-09"},{"v":1.43781982210008E-9,"d":"1.44E-09"},"ATP1A2/MYH11/THBS1/THBS4/ACTG2/ANKRD1/SYNPO2/DES/SGCD/FBN1/DMD/ACTC1/ANK2/TPM2/LAMA2/LMOD1/MYOM1/LDB3/PDLIM3/MYL9/SSPN/FHL1/ITGA9/FLNC/ACTN2/TMOD1/SGCA/DCN",28]
["Environmental Information Processing","Signaling molecules and interaction","hsa04080","Neuroactive ligand-receptor interaction","32/228","368/8846",{"v":1.11387241987014e-09,"d":"1.11E-09"},{"v":1.39790988693703e-07,"d":"1.40E-07"},{"v":1.22525966185716E-7,"d":"1.23E-07"},"GLP2R/FPR1/PTGFR/PTGER3/VIPR2/CTSG/MLNR/FPR2/TACR2/AGTR1/GRPR/CALCA/HTR2A/NTS/GRP/P2RX1/NPY/ADORA3/TAC1/CHRM2/VIP/GRIK5/P2RY14/ADCYAP1/SCTR/NPY1R/GHR/TACR1/CGA/CHRNA3/GIP/CNR1",32]
["Organismal Systems","Circulatory system","hsa04270","Vascular smooth muscle contraction","17/228","134/8846",{"v":5.23655371314051E-8,"d":"5.24E-08"},{"v":4.38124993999423E-6,"d":"4.38E-06"},{"v":3.84013938963638e-06,"d":"3.84E-06"},"ACTA2/ADCY5/KCNMB1/MYH11/ACTG2/GUCY1B1/MYLK/CALD1/AGTR1/CALCA/PRKCB/GUCY1A1/PPP1R14A/KCNMA1/MYL9/PPP1R12B/IRAG1",17]
["Organismal Systems","Digestive system","hsa04972","Pancreatic secretion","12/228","106/8846",{"v":1.66848901030203E-5,"d":"1.67E-05"},1.04697685396452E-3,0.000917668955666116,"ATP1A2/ADCY5/CPA3/PNLIPRP1/TRPC1/PRKCB/KCNMA1/CPA1/CPA2/CTRB1/PNLIP/SCTR",12]
["Environmental Information Processing","Signal transduction","hsa04020","Calcium signaling pathway","19/228","254/8846",{"v":2.8893694590877e-05,"d":"2.89E-05"},1.45046346846202E-3,0.00127132256199859,"PTGFR/PTGER3/GDNF/MYLK/TACR2/AGTR1/CASQ2/GRPR/PRKCB/HTR2A/PDE1A/FGF10/P2RX1/PLN/FGF2/VEGFD/CHRM2/FGF7/TACR1",19]
["Cellular Processes","Cellular community - eukaryotes","hsa04510","Focal adhesion","16/228","203/8846",{"v":6.7394990651507e-05,"d":"6.74E-05"},0.0024325613083094,2.13212544951421E-3,"FLNA/AKT3/CAV1/THBS1/THBS4/MYLK/TNC/VTN/TNXB/PRKCB/LAMA2/MYL9/VEGFD/ITGA9/PPP1R12B/TNN",16]
["Environmental Information Processing","Signal transduction","hsa04024","cAMP signaling pathway","17/228","226/8846",{"v":7.16909874346487e-05,"d":"7.17E-05"},0.0024325613083094,2.13212544951421E-3,"ATP1A2/AKT3/ADCY5/BVES/PTGER3/VIPR2/POPDC2/NPY/PLN/MYL9/CHRM2/VIP/ADCYAP1/NPY1R/CGA/GIP/GLI3",17]
["Human Diseases","Cardiovascular disease","hsa05414","Dilated cardiomyopathy","11/228","105/8846",{"v":7.75318345277896e-05,"d":"7.75E-05"},0.0024325613083094,2.13212544951421E-3,"ADCY5/DES/SGCD/DMD/ACTC1/TPM2/LAMA2/PLN/SSPN/ITGA9/SGCA",11]
["Human Diseases","Cardiovascular disease","hsa05410","Hypertrophic cardiomyopathy","10/228","99/8846",0.000222430647729231,0.00620334362000411,0.00543719361115898,"IL6/DES/SGCD/DMD/ACTC1/TPM2/LAMA2/SSPN/ITGA9/SGCA",10]
["Environmental Information Processing","Signal transduction","hsa04022","cGMP-PKG signaling pathway","13/228","166/8846",0.000347231827036522,0.00801719149646851,0.00702702043515168,"ATP1A2/AKT3/ADCY5/KCNMB1/GUCY1B1/MYLK/AGTR1/GUCY1A1/KCNMA1/ADORA3/PLN/MYL9/IRAG1",13]
["Organismal Systems","Endocrine system","hsa04911","Insulin secretion","9/228","86/8846",0.000351351021757584,0.00801719149646851,0.00702702043515168,"ATP1A2/ADCY5/KCNMB1/SNAP25/KCNN3/PRKCB/KCNMA1/ADCYAP1/GIP",9]
["Organismal Systems","Endocrine system","hsa04923","Regulation of lipolysis in adipocytes","7/228","59/8846",0.000751593380085093,0.0157208282001132,0.0137792119682267,"AKT3/ADCY5/PTGER3/FABP4/NPY/NPY1R/CGA",7]
["Human Diseases","Cardiovascular disease","hsa05412","Arrhythmogenic right ventricular cardiomyopathy","8/228","86/8846",1.62199666453383E-3,0.0313170125229224,0.0274491743228802,"DES/SGCD/DMD/LAMA2/SSPN/ITGA9/ACTN2/SGCA",8]
["Organismal Systems","Endocrine system","hsa04924","Renin secretion","7/228","69/8846",0.00191250551301547,0.0325348525948471,0.0285166038679935,"ADCY5/GUCY1B1/AGTR1/PDE1A/GUCY1A1/KCNMA1/ADCYAP1",7]
["Environmental Information Processing","Signaling molecules and interaction","hsa04512","ECM-receptor interaction","8/228","89/8846",0.0020212841403264,0.0325348525948471,0.0285166038679935,"THBS1/THBS4/TNC/VTN/TNXB/LAMA2/ITGA9/TNN",8]
["Organismal Systems","Circulatory system","hsa04261","Adrenergic signaling in cardiomyocytes","11/228","154/8846",2.07393482676316E-3,0.0325348525948471,0.0285166038679935,"ATP1A2/AKT3/ADCY5/BVES/AGTR1/ACTC1/TPM2/POPDC2/PLN/PPP1R1A/SCN7A",11]
["Human Diseases","Cancer: overview","hsa05205","Proteoglycans in cancer","13/228","204/8846",2.34650747363789E-3,0.0346454926990064,0.030366567305902,"FLNA/AKT3/CAV1/THBS1/VTN/PRKCB/ANK2/TWIST2/FGF2/LUM/PPP1R12B/TIMP3/DCN",13]
["Organismal Systems","Endocrine system","hsa04614","Renin-angiotensin system","4/228","23/8846",0.00258828309226085,0.0360921697865263,0.0316345711276326,"CTSG/CPA3/CMA1/AGTR1",4]
["Organismal Systems","Immune system","hsa04613","Neutrophil extracellular trap formation","12/228","192/8846",0.00400296523317395,0.0528812775540349,0.0463501237525405,"AKT3/FPR1/ELANE/AQP9/CTSG/FGG/FPR2/AZU1/MPO/TLR7/PRKCB/CR1",12]

{"sheet":"table S10","index":9,"n_rows":54,"n_cols":11,"rows_kept":54,"merged":[[0,0,0,10]]}
["GSEA analysis of DEGs between high- and low-risk groups for MRLs in GC"]
[]
["ID","Description","setSize","enrichmentScore","NES","pvalue","p.adjust","qvalue","rank","leading_edge","core_enrichment"]
["KEGG_RIBOSOME","KEGG_RIBOSOME",85,-0.654308953030487,-2.498324438064,{"v":1.4263000332381e-10,"d":"1.43E-10"},{"v":2.41044705617239e-08,"d":"2.41E-08"},{"v":1.77161477812733e-08,"d":"1.77E-08"},6910,"tags=81%, list=28%, signal=59%","RPS27/FAU/RPL21/RPS23/RPL11/RPL35A/RPL27/RPS25/RPL14/RPL10/UBA52/RPL27A/RPL4/RPS8/RPS20/RPS12/RPL30/RPL24/RPL6/RPL3/RPS17/RPL34/RPS6/RPL37/RPL13A/RPS11/RPS28/RPS15A/RPS3/RPL32/RPS24/RPS16/RPS18/RPS7/RPL38/RPS29/RPLP1/MRPL13/RPL26/RPSA/RPS9/RPL28/RPL26L1/RPLP2/RPL29/RPL7/RPS26/RPLP0/RPS3A/RPL9/RPL18/RPS21/RPL7A/RPS10/RPS5/RPS19/RPL13/RPL12/RPL36/RPL23A/RPL41/RPL37A/RPL35/RPL17/RPL8/RPL18A/RPS15/RPS2/RPL22L1"]
["KEGG_COMPLEMENT_AND_COAGULATION_CASCADES","KEGG_COMPLEMENT_AND_COAGULATION_CASCADES",57,0.694533914592179,1.99441515296848,{"v":1.62575860174205e-07,"d":"1.63E-07"},{"v":1.37376601847203e-05,"d":"1.37E-05"},{"v":1.00968165792401E-5,"d":"1.01E-05"},4386,"tags=67%, list=18%, signal=55%","FGA/F13A1/C7/SERPIND1/MASP1/FGG/SERPINE1/CR1/C3AR1/C5AR1/F7/C1S/SERPINA5/CFH/C3/F2/PROS1/CR2/C4A/A2M/F10/C1R/PLAU/C5/FGB/SERPING1/F8/C4B/C1QB/TFPI/F2R/BDKRB1/C1QC/SERPINA1/SERPINF2/C1QA/THBD/MASP2"]
["KEGG_HEMATOPOIETIC_CELL_LINEAGE","KEGG_HEMATOPOIETIC_CELL_LINEAGE",70,0.661366886279412,1.95728331889802,{"v":3.3628031166e-07,"d":"3.36E-07"},{"v":1.894379089018e-05,"d":"1.89E-05"},{"v":1.39231848336421E-5,"d":"1.39E-05"},6180,"tags=69%, list=25%, signal=52%","IL6/CSF3/CR1/MS4A1/CD33/FLT3/CD22/CD1C/KIT/IL7R/IL1R1/CSF1R/CSF3R/ITGA1/CD19/CD36/CD1E/CR2/IL1A/IL11/CD37/ITGA4/CSF2/ITGA5/IL2RA/CD1B/ITGB3/CD14/CD1D/CD4/ITGAM/FCGR1A/TPO/CD2/CD38/IL11RA/CD3G/ANPEP/CD59/CD3D/CD3E/CD1A/CD34/HLA-DRA/IL6R/FCER2/IL1B/TNF"]
["KEGG_OXIDATIVE_PHOSPHORYLATION","KEGG_OXIDATIVE_PHOSPHORYLATION",126,-0.493443071565575,-2.06663194910988,{"v":6.24467706970915e-07,"d":"6.24E-07"},{"v":2.63837606195212e-05,"d":"2.64E-05"},{"v":1.93913656375179e-05,"d":"1.94E-05"},4931,"tags=55%, list=20%, signal=44%","ATP5MC2/MT-ATP8/ATP5PB/ATP6V1E2/COX7B/NDUFA10/SDHD/NDUFB4/SDHB/ATP5F1B/NDUFS8/NDUFS5/NDUFS2/NDUFAB1/NDUFB2/COX10/ATP5PD/NDUFA6/NDUFB10/NDUFA8/NDUFA11/NDUFA1/ATP5F1A/ATP6V0E2/NDUFB3/NDUFS6/NDUFB8/NDUFB6/ATP5F1E/NDUFS3/NDUFV1/COX7A2/PPA2/NDUFC1/UQCR11/COX8C/UQCR10/NDUFB7/ATP5PO/NDUFA9/NDUFB9/ATP6V0B/UQCRQ/SDHA/NDUFA3/UQCRFS1/UQCRH/COX4I1/NDUFA2/COX5B/NDUFA4L2/COX6B1/UQCRC1/COX5A/ATP5MC3/ATP5ME/COX6A1/COX8A/ATP5F1D/ATP5MC1/ATP6V0A4/UQCRHL/CYC1/NDUFS7/ATP5MF/COX6B2/ATP4B/ATP12A/ATP4A"]
["KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION","KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION",161,0.54566320153497,1.74671567834702,{"v":1.46033177882216e-06,"d":"1.46E-06"},{"v":4.93592141241889e-05,"d":"4.94E-05"},{"v":3.62777157686346e-05,"d":"3.63E-05"},4130,"tags=47%, list=17%, signal=39%","PRSS1/CHRM2/GRIK1/CTSG/CGA/AGTR1/TACR2/MLNR/SCTR/ADRA1B/TACR1/GRPR/P2RX2/CHRNA3/HTR2A/PTGFR/ADCYAP1R1/GHR/PRSS2/GLP2R/CNR1/P2RX1/NPY1R/FPR1/P2RY14/FPR2/GRIK5/VIPR2/PTGER3/ADORA3/C3AR1/CYSLTR1/C5AR1/AVPR1A/CNR2/EDNRA/LPAR4/GLRB/FPR3/S1PR3/LEPR/PTGDR/P2RY13/F2/PTGER1/GRIN2A/NR3C1/P2RX5/LPAR1/P2RX7/GRIK3/GRID1/P2RY10/ADRB2/HRH2/S1PR1/NMUR1/CCKBR/PTH1R/ADRA1D/GLP1R/PTGIR/F2R/CYSLTR2/BDKRB1/CHRNB4/THRB/GABRR1/S1PR2/F2RL2/NPY4R/GABRA2/CCKAR/GABBR1/EDNRB"]
["KEGG_CALCIUM_SIGNALING_PATHWAY","KEGG_CALCIUM_SIGNALING_PATHWAY",141,0.559151225121265,1.77651052571304,{"v":3.81607293172422e-06,"d":"3.82E-06"},{"v":9.21309036373418e-05,"d":"9.21E-05"},{"v":6.77137753298432e-05,"d":"6.77E-05"},4170,"tags=42%, list=17%, signal=35%","CHRM2/AGTR1/PLN/TACR2/MYLK/ADRA1B/TACR1/PLCD4/GRPR/P2RX2/HTR2A/PTGFR/ADCY2/P2RX1/TRPC1/RYR3/CACNA1A/PTGER3/PRKCB/PDE1A/CACNA1C/SLC8A2/CYSLTR1/SLC8A1/PLCG2/AVPR1A/EDNRA/ATP2B4/PDE1B/CACNA1H/RYR2/PDGFRA/PTGER1/GRIN2A/P2RX5/ADCY1/P2RX7/PDE1C/ITPR1/ADRB2/CAMK4/HRH2/CCKBR/PDGFRB/ADRA1D/F2R/ITPKB/CYSLTR2/BDKRB1/GNAL/PLCB2/PHKG1/ITPR2/BST1/CD38/CCKAR/PRKACB/EDNRB/ADCY4"]
["KEGG_FOCAL_ADHESION","KEGG_FOCAL_ADHESION",184,0.523759438941134,1.69507223747316,{"v":3.55727174045952e-06,"d":"3.56E-06"},{"v":9.21309036373418e-05,"d":"9.21E-05"},{"v":6.77137753298432e-05,"d":"6.77E-05"},6792,"tags=49%, list=27%, signal=36%","ACTN2/VEGFD/MYLK/VTN/FLNC/TNN/THBS4/MYL9/TNXB/MAPK10/PAK3/FLNA/LAMA2/CAV1/THBS1/ITGA9/PRKCB/AKT3/TNC/ITGA8/IGF1/HGF/COL6A3/COL3A1/COL4A4/ITGA7/COL4A6/COL11A1/ITGA11/FN1/ITGA1/THBS2/PDGFRA/SHC4/COL1A2/LAMA4/COL5A2/PDGFC/PIK3CG/COL6A2/ITGA4/COL5A1/PARVA/ITGA5/IBSP/COL1A1/ITGB3/PIK3R5/ILK/PDGFRB/VEGFC/COL6A1/PARVG/CAV2/VAV1/PDGFD/VCL/PIK3CD/ACTN1/PPP1R12A/TLN1/THBS3/BCL2/RAC2/ITGB6/SHC2/MET/ITGB1/SPP1/CHAD/COL4A2/FLT1/LAMC1/ITGAV/VWF/PIK3R1/ITGA10/FYN/LAMB1/RAP1A/ITGB8/LAMC3/LAMB2/COL4A1/RAP1B/SHC3/FLT4/ITGB5/LAMC2/CCND2/ROCK1"]
["KEGG_DILATED_CARDIOMYOPATHY","KEGG_DILATED_CARDIOMYOPATHY",73,0.636979895656922,1.88916296080743,{"v":4.40776307728164e-06,"d":"4.41E-06"},{"v":9.31139950075746e-05,"d":"9.31E-05"},{"v":6.8436321463057E-5,"d":"6.84E-05"},2401,"tags=40%, list=10%, signal=36%","PLN/DES/ADCY2/ADCY5/SGCD/SGCA/ACTC1/TPM2/LAMA2/DMD/ITGA9/CACNB2/CACNA1C/ITGA8/SLC8A1/IGF1/TPM1/RYR2/ITGA7/ITGA11/ITGA1/SGCG/TGFB3/CACNA2D3/ADCY1/ITGA4/CACNA2D1/ITGA5/ITGB3"]
["KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM","KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM",67,0.64240147715985,1.88579976169932,{"v":7.74538784664165e-06,"d":"7.75E-06"},0.000145441171786938,1.06895411216809E-4,2401,"tags=40%, list=10%, signal=37%","DES/SGCD/IL6/SGCA/ACTC1/TPM2/LAMA2/DMD/ITGA9/CACNB2/CACNA1C/ITGA8/SLC8A1/IGF1/TPM1/RYR2/ITGA7/ITGA11/ITGA1/SGCG/TGFB3/CACNA2D3/PRKAA2/ITGA4/CACNA2D1/ITGA5/ITGB3"]
["KEGG_HUNTINGTONS_DISEASE","KEGG_HUNTINGTONS_DISEASE",170,-0.420343811712239,-1.84105084265507,{"v":1.85844564013251e-05,"d":"1.86E-05"},0.000263118447355255,0.000193385093665027,6462,"tags=61%, list=26%, signal=45%","CASP8/SDHC/HDAC2/MT-CO3/PPARG/ATP5PF/TAF4/NDUFB5/CASP3/CREB3/UQCRB/POLR2C/UQCRC2/POLR2H/COX7C/TBPL1/AP2S1/ATP5F1C/NDUFA4/HDAC1/BAX/POLR2D/ATP5MC2/MT-ATP8/ATP5PB/SLC25A5/CLTA/COX7B/NDUFA10/SDHD/NDUFB4/DNALI1/SDHB/ATP5F1B/NDUFS8/NDUFS5/CREB3L4/NDUFS2/POLR2E/NDUFAB1/NDUFB2/VDAC1/PPID/TP53/VDAC3/ATP5PD/NDUFA6/NDUFB10/NDUFA8/CREB3L1/NDUFA1/ATP5F1A/VDAC2P5/NDUFB3/NDUFS6/NDUFB8/POLR2F/NDUFB6/ATP5F1E/SOD1/POLR2J/CLTB/POLR2I/NDUFS3/NDUFV1/COX7A2/POLR2L/NDUFC1/UQCR11/COX8C/UQCR10/HAP1/NDUFB7/ATP5PO/NDUFA9/PLCB3/NDUFB9/UQCRQ/VDAC2/SDHA/DNAL4/NDUFA3/UQCRFS1/UQCRH/COX4I1/NDUFA2/BBC3/COX5B/NDUFA4L2/CYCS/COX6B1/UQCRC1/COX5A/ATP5MC3/COX6A1/COX8A/ATP5F1D/ATP5MC1/UQCRHL/CYC1/NDUFS7/COX6B2/GRIN1"]
["KEGG_CHEMOKINE_SIGNALING_PATHWAY","KEGG_CHEMOKINE_SIGNALING_PATHWAY",174,0.510833524081875,1.64618291976953,{"v":1.7777873966955e-05,"d":"1.78E-05"},0.000263118447355255,0.000193385093665027,7388,"tags=48%, list=30%, signal=34%","CCL16/ADCY2/ADCY5/CXCR1/GNG13/PRKCB/AKT3/RASGRP2/CCL7/CCL3L3/CX3CR1/CXCL6/GNB4/ITK/CXCL12/CCL23/DOCK2/SHC4/CCL21/CCL2/GNG2/CCL13/PIK3CG/ADCY1/CCR1/CCL19/CCL11/CCR4/CXCR4/CXCL8/CCR2/CCR7/WAS/CCL4L2/HCK/PIK3R5/FGR/CCR8/GNAI1/VAV1/CCL22/CCL18/CXCL13/GNG11/CCL4/PLCB2/PIK3CD/NCF1/CXCR2/CCR5/PRKACB/ADCY4/GNGT2/PREX1/GNB3/CCL8/CCL17/GRK3/RAC2/CCL3/SHC2/ELMO1/JAK3/STAT5B/CXCL9/CXCL11/GNG7/PIK3R1/NFKBIA/RAP1A/GNG8/XCL2/TIAM1/RAP1B/SHC3/GNB5/ROCK1/ADCY7/CCL5/PIK3CA/CCL25/ADCY9/GNG12"]
["KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION","KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION",209,0.490825703239241,1.60417460028992,{"v":1.86829666761128e-05,"d":"1.87E-05"},0.000263118447355255,0.000193385093665027,5406,"tags=45%, list=22%, signal=36%","CCL16/VEGFD/GHR/IL6/IL24/CSF3/CXCR1/TNFRSF13C/FLT3/TNFSF8/KIT/IL7R/CCL7/HGF/INHBA/CCL3L3/CX3CR1/TNFSF18/CXCL6/IL1R1/LEPR/CSF1R/CSF3R/TNFSF4/CXCL12/PDGFRA/CCL23/TGFB3/PDGFC/CCL21/CCL2/IL10RA/CCL13/IL1A/IL11/CCR1/EDA2R/TNFRSF13B/CCL19/CCL11/CD27/CSF2/CCR4/CXCR4/CXCL8/CCR2/CCR7/CCL4L2/IL6ST/IL2RA/IL18RAP/CD40LG/PDGFRB/CCR8/VEGFC/ACVR1/TSLP/CCL22/CCL18/TPO/CXCL13/TNFSF12/OSM/IL17B/CCL4/LIFR/CXCR2/TNFSF13B/CCR5/PLEKHO2/IL11RA/IFNG/TNFSF11/BMPR1B/TGFB1/IL21R/IFNL1/TGFBR1/TNFRSF9/LTB/CCL8/CCL17/CCL3/EDA/TNFSF14/MET/ACVRL1/CSF2RB/PRLR/IL12RB1/LTA/BMPR2/FLT1/CXCL9"]
["KEGG_GLYCEROLIPID_METABOLISM","KEGG_GLYCEROLIPID_METABOLISM",45,0.671601852759918,1.86949368107748,{"v":2.82877994863607e-05,"d":"2.83E-05"},0.000367741393322689,0.000270280189424337,38,"tags=9%, list=0%, signal=9%","PNLIP/PNLIPRP1/CEL/PNLIPRP2"]
["KEGG_DNA_REPLICATION","KEGG_DNA_REPLICATION",34,-0.696569563001205,-2.22072372324759,{"v":3.26569425748761e-05,"d":"3.27E-05"},0.000387471567226926,0.000284781344956569,5970,"tags=74%, list=24%, signal=56%","RFC3/POLA2/SSBP1/POLE/RFC4/MCM6/DNA2/POLD4/RPA3/POLE2/RFC5/POLE3/RFC2/POLD3/PRIM1/LIG1/MCM5/MCM3/FEN1/PCNA/MCM7/MCM4/MCM2/POLD2/POLD1"]
["KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC","KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC",63,0.616321504301875,1.7889409523677,{"v":3.43909675053484e-05,"d":"3.44E-05"},0.000387471567226926,0.000284781344956569,2557,"tags=37%, list=10%, signal=33%","ACTN2/CTNNA3/DES/SGCD/SGCA/LAMA2/DMD/ITGA9/CACNB2/CACNA1C/ITGA8/SLC8A1/RYR2/ITGA7/ITGA11/ITGA1/SGCG/CACNA2D3/ITGA4/CACNA2D1/ITGA5/ITGB3/GJA1"]
["KEGG_SPLICEOSOME","KEGG_SPLICEOSOME",125,-0.450019367550352,-1.87972115677576,{"v":4.7845747386226e-05,"d":"4.78E-05"},0.000505370706767012,0.000371434091550965,7697,"tags=54%, list=31%, signal=38%","USP39/HNRNPA3/XAB2/WBP11/SF3B2/SF3A3/PRPF40A/SART1/HNRNPU/HSPA8/DHX16/CCDC12/ISY1/DDX23/SF3B4/NCBP1/HNRNPC/SRSF1/RBMX/HNRNPK/SNRNP70/CTNNBL1/MAGOH/SNRPA1/DHX15/SNRNP200/EIF4A3/SNRNP40/MAGOHB/HNRNPM/PQBP1/LSM6/PRPF19/SNRPG/SNU13/PPIL1/PRPF31/LSM3/HNRNPA1/LSM5/PPIH/BUD31/SNRPD2/EFTUD2/SNRPF/SNRPE/SNRPD1/SNRPC/SF3B3/PHF5A/PRPF6/SNRPA/TXNL4A/PUF60/PRPF4/CHERP/U2AF2/LSM2/LSM7/LSM4/SRSF9/SF3B5/SNRPB/SF3A2/PLRG1/PCBP1/THOC3/ALYREF"]
["KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION","KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION",100,0.556430326132073,1.70677563569524,{"v":8.82375691697929e-05,"d":"8.82E-05"},0.000877185246452647,0.000644707935729756,4170,"tags=39%, list=17%, signal=33%","PLA2G1B/AGTR1/MYH11/ACTG2/MYLK/ADRA1B/KCNMA1/MYL9/ADCY2/KCNMB1/ADCY5/PPP1R12B/CALD1/GUCY1A1/ACTA2/IRAG1/PLA2G2C/PPP1R14A/GUCY1B1/PRKCB/PLA2G12B/PRKG1/CACNA1C/AVPR1A/EDNRA/ADCY1/ITPR1/PLA2G2D/ADRA1D/NPR2/PLA2G5/PTGIR/NPR1/PLCB2/ITPR2/PPP1R12A/PRKACB/GUCY1A2/ADCY4"]
["KEGG_CELL_ADHESION_MOLECULES_CAMS","KEGG_CELL_ADHESION_MOLECULES_CAMS",123,0.529235118871712,1.6566787576704,1.53016861147256E-4,1.43665830743813E-3,1.0559058254606E-3,6421,"tags=53%, list=26%, signal=39%","CLDN8/NRXN3/NEGR1/NLGN1/NCAM1/CADM3/NCAM2/NFASC/ITGA9/CD22/JAM3/CNTN1/ITGA8/CNTNAP1/JAM2/SELL/VCAN/HLA-DQA2/PTPRC/CD28/CD86/PDCD1LG2/SDC2/SIGLEC1/ITGA4/VCAM1/SELE/SELP/CD80/ITGB2/NRXN2/CD40LG/PTPRM/CD4/L1CAM/ITGAM/ITGAL/PECAM1/CLDN5/NLGN2/HLA-DQA1/CD2/NLGN3/ICOS/NLGN4X/SELPLG/CLDN11/NRCAM/SPN/ITGB1/HLA-DPA1/HLA-DOB/CD6/CD34/CLDN1/HLA-DRA/HLA-DMB/CLDN14/ITGAV/ITGB8/HLA-DOA/SDC3/CDH5/ICAM3/HLA-DPB1"]
["KEGG_OLFACTORY_TRANSDUCTION","KEGG_OLFACTORY_TRANSDUCTION",26,-0.720632435476014,-2.08982245151501,1.85764480905476E-4,0.00158677192738661,1.16623536238941E-3,772,"tags=27%, list=3%, signal=26%","OR2B6/CLCA1/CLCA4/CLCA2/CALML3/CALML5/OR8K5"]
["KEGG_AMINOACYL_TRNA_BIOSYNTHESIS","KEGG_AMINOACYL_TRNA_BIOSYNTHESIS",40,-0.620920923808514,-2.08363458140784,0.000187783660045753,0.00158677192738661,1.16623536238941E-3,7419,"tags=80%, list=30%, signal=56%","MTFMT/SEPSECS/TARS1/CARS1/NARS1/CARS2/GARS1/RARS1/AARS2/WARS2/HARS2/YARS2/EPRS1/WARS1/PARS2/SARS1/MARS1/AARS1/KARS1/EARS2/LARS2/IARS1/FARSB/YARS1/SARS2/IARS2/QARS1/TARS2/DARS2/FARSA/VARS1/MARS2"]
["KEGG_CELL_CYCLE","KEGG_CELL_CYCLE",121,-0.442043102860964,-1.83303607413381,0.00022961575025995,0.00179322655123689,1.31797404575492E-3,5234,"tags=43%, list=21%, signal=34%","HDAC1/CDK4/CDC26/BUB3/FZR1/CDC14B/ANAPC11/MCM6/CDKN1C/MAD2L2/TP53/E2F4/TTK/ANAPC2/CDC6/CDC25B/TFDP1/MDM2/BUB1/CCNB2/CHEK1/BUB1B/MCM5/CDC7/MCM3/ORC1/PTTG1/ORC6/CDK1/CDC25C/PCNA/CCNB1/MCM7/SKP2/CCNE2/MCM4/PLK1/CDC45/MAD2L1/MCM2/CCND1/CCNA2/E2F1/CCNE1/E2F2/ORC5/CDC25A/ESPL1/CDC20/CCNB3/PKMYT1/SFN"]
["KEGG_PYRIMIDINE_METABOLISM","KEGG_PYRIMIDINE_METABOLISM",92,-0.460560985708356,-1.81502643591635,0.00023343777590066,0.00179322655123689,1.31797404575492E-3,7341,"tags=68%, list=29%, signal=49%","PNPT1/POLR2A/CTPS2/POLA1/POLR3D/UCK1/POLR1D/POLR3B/POLR3A/POLR1H/PRIM2/TXNRD2/DCK/NME3/DUT/NT5C3A/POLA2/PNP/POLR2C/UMPS/POLR2H/DHODH/ENTPD3/POLR1B/POLR2D/CMPK1/POLR1E/NUDT2/POLE/TXNRD1/CTPS1/POLR1A/CAD/POLR1C/POLD4/POLR2E/POLE2/ITPA/POLE3/POLR2F/POLR3K/NT5C/POLR3H/NT5M/POLR2J/POLR2I/ENTPD6/POLR2L/RRM1/POLR3G/POLD3/PRIM1/CANT1/TYMS/NME1/DTYMK/RRM2/UCK2/POLD2/POLD1/TK1/NME2/ENTPD8"]
["KEGG_BASE_EXCISION_REPAIR","KEGG_BASE_EXCISION_REPAIR",34,-0.649182209628168,-2.06964876188406,0.000331270142309235,2.4341153934896E-3,1.78901037951898E-3,6349,"tags=71%, list=25%, signal=53%","POLL/POLB/HMGB1/SMUG1/PARP1/LIG3/APEX2/XRCC1/APEX1/POLE/MPG/POLD4/POLE2/POLE3/NEIL3/POLD3/LIG1/FEN1/NTHL1/UNG/PCNA/NEIL2/POLD2/POLD1"]
["KEGG_ECM_RECEPTOR_INTERACTION","KEGG_ECM_RECEPTOR_INTERACTION",76,0.564291947515765,1.67876686774393,0.00045409583551478,0.00319759150841658,0.00235014511362913,6734,"tags=70%, list=27%, signal=51%","VTN/TNN/THBS4/TNXB/LAMA2/SV2B/THBS1/ITGA9/TNC/ITGA8/COL6A3/COL3A1/COL4A4/ITGA7/COL4A6/COL11A1/ITGA11/FN1/ITGA1/THBS2/CD36/COL1A2/LAMA4/COL5A2/COL6A2/SDC2/ITGA4/COL5A1/ITGA5/IBSP/COL1A1/ITGB3/COL6A1/SV2A/THBS3/ITGB6/ITGB1/SPP1/CHAD/COL4A2/HSPG2/LAMC1/ITGAV/VWF/ITGA10/LAMB1/ITGB8/SDC3/LAMC3/LAMB2/COL4A1/ITGB5/LAMC2"]
["KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION","KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION",105,0.526162494819549,1.62309376428692,0.000681140229252139,4.60450794974446E-3,0.00338419145481063,3888,"tags=33%, list=16%, signal=28%","ACTN2/CLDN8/CTNNA3/MYL9/PRKCB/JAM3/PLCG2/JAM2/MMP2/ITK/CXCL12/CYBB/PIK3CG/ITGA4/VCAM1/RHOH/CXCR4/ITGB2/NOX1/TXK/PIK3R5/MSN/ITGAM/GNAI1/ITGAL/VAV1/THY1/VCL/PECAM1/PIK3CD/CLDN5/NCF2/ACTN1/NCF1/NCF4"]
["KEGG_PROTEASOME","KEGG_PROTEASOME",41,-0.580387476194703,-1.94711241513405,8.6550354580198E-4,0.00562577304771287,0.00413479426739407,7659,"tags=83%, list=31%, signal=58%","PSMD2/PSMD13/POMP/PSMC4/PSMB1/PSMA1/PSMC1/PSMC3/PSMD7/PSMF1/PSME3/PSMD12/PSMC2/PSMD4/PSMC5/PSMA4/PSMB3/PSMA6/PSMB2/PSMB6/PSMD14/PSMB4/PSMA5/PSMB9/PSMD8/SEM1/PSME1/PSMB7/PSMB5/PSMA7/PSME2/PSMB8/PSMB10/PSMD3"]
["KEGG_ALZHEIMERS_DISEASE","KEGG_ALZHEIMERS_DISEASE",156,-0.380188892071569,-1.68483898239253,0.0010491145204853,0.00656667977637094,0.00482633580574133,5021,"tags=48%, list=20%, signal=39%","FADD/BID/ATP5MC2/MT-ATP8/ATP5PB/COX7B/CHP1/NDUFA10/SDHD/BACE2/NDUFB4/SDHB/ATP5F1B/CAPN1/NDUFS8/NDUFS5/NDUFS2/GRIN2D/NDUFAB1/NDUFB2/ATP5PD/CASP7/NDUFA6/NDUFB10/NDUFA8/NDUFA1/ATP5F1A/NDUFB3/NDUFS6/NDUFB8/NDUFB6/ATP5F1E/NDUFS3/NDUFV1/COX7A2/NDUFC1/UQCR11/COX8C/HSD17B10/UQCR10/NDUFB7/ATP5PO/NDUFA9/PLCB3/NDUFB9/MAPK3/UQCRQ/SDHA/NDUFA3/UQCRFS1/BAD/GAPDH/UQCRH/CDK5/COX4I1/PSENEN/NDUFA2/COX5B/NDUFA4L2/CYCS/COX6B1/UQCRC1/COX5A/ATP5MC3/COX6A1/COX8A/ATP5F1D/ATP5MC1/UQCRHL/CYC1/NDUFS7/COX6B2/GRIN1/CALML3/CALML5"]
["KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY","KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY",71,0.535654821223417,1.5881120035018,0.00260959255723217,0.0157507550775799,0.011576388035842,3482,"tags=27%, list=14%, signal=23%","PLA2G1B/MAPK10/FCER1A/MS4A2/PLA2G2C/PRKCB/AKT3/PLA2G12B/PLCG2/BTK/PIK3CG/CSF2/PLA2G2D/PIK3R5/LCP2/PLA2G5/VAV1/FCER1G/PIK3CD"]
["KEGG_LONG_TERM_DEPRESSION","KEGG_LONG_TERM_DEPRESSION",58,0.550999916677306,1.58370880599163,0.00277442243654989,0.0161681859233425,0.0118831886574551,4134,"tags=29%, list=17%, signal=25%","PLA2G1B/GNAO1/GUCY1A1/PLA2G2C/GUCY1B1/CACNA1A/PRKCB/PLA2G12B/PRKG1/IGF1/ITPR1/PLA2G2D/PLA2G5/GNAI1/PLCB2/ITPR2/GUCY1A2"]
["KEGG_ABC_TRANSPORTERS","KEGG_ABC_TRANSPORTERS",36,0.617969955697607,1.66373371557795,0.00310544283518253,0.0174939946381949,0.0128576229667207,2052,"tags=25%, list=8%, signal=23%","ABCB4/ABCA9/ABCA8/ABCA6/ABCC9/ABCA10/ABCB1/ABCA1/ABCD2"]
["KEGG_PARKINSONS_DISEASE","KEGG_PARKINSONS_DISEASE",124,-0.363734736102515,-1.53537583674013,0.00503013350170866,0.0274223407028633,0.0201546945059974,5695,"tags=63%, list=23%, signal=49%","MT-CO3/UBE2L6/ATP5PF/NDUFB5/CASP3/UQCRB/HTRA2/UBA1/UQCRC2/COX7C/UBE2J2/ATP5F1C/NDUFA4/ATP5MC2/MT-ATP8/ATP5PB/SLC25A5/COX7B/NDUFA10/SDHD/NDUFB4/SDHB/ATP5F1B/NDUFS8/NDUFS5/NDUFS2/NDUFAB1/NDUFB2/VDAC1/PPID/VDAC3/ATP5PD/NDUFA6/NDUFB10/NDUFA8/NDUFA1/ATP5F1A/VDAC2P5/NDUFB3/NDUFS6/NDUFB8/NDUFB6/ATP5F1E/NDUFS3/NDUFV1/COX7A2/NDUFC1/UQCR11/COX8C/UQCR10/NDUFB7/ATP5PO/NDUFA9/NDUFB9/UQCRQ/VDAC2/SDHA/NDUFA3/UQCRFS1/UQCRH/COX4I1/NDUFA2/COX5B/NDUFA4L2/CYCS/COX6B1/UQCRC1/COX5A/ATP5MC3/COX6A1/COX8A/ATP5F1D/ATP5MC1/GPR37/UQCRHL/CYC1/NDUFS7/COX6B2"]
["KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY","KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY",84,0.495300265228393,1.50070839389741,0.00685271680326672,0.0361909106172524,0.0265993612758379,6180,"tags=33%, list=25%, signal=25%","LBP/IL6/MAPK10/TLR7/AKT3/TLR1/TLR8/CTSK/TLR6/CD86/PIK3CG/CD80/TLR2/CXCL8/PIK3R5/CD14/TLR4/LY96/CCL4/PIK3CD/CCL3/SPP1/CXCL9/CXCL11/PIK3R1/NFKBIA/IL1B/TNF"]
["KEGG_HOMOLOGOUS_RECOMBINATION","KEGG_HOMOLOGOUS_RECOMBINATION",26,-0.60785048151118,-1.76275660224366,0.00837121794240545,0.0428707827959552,0.03150889050092,6490,"tags=54%, list=26%, signal=40%","MUS81/XRCC3/SSBP1/EME1/SEM1/POLD4/RPA3/XRCC2/RAD51/POLD3/RAD54B/RAD54L/POLD2/POLD1"]
["KEGG_NUCLEOTIDE_EXCISION_REPAIR","KEGG_NUCLEOTIDE_EXCISION_REPAIR",42,-0.504404712742678,-1.69848463862195,0.0091597262194196,0.0455292273847621,0.033462776900666,6098,"tags=45%, list=24%, signal=34%","CUL4A/RFC3/ERCC2/POLE/RFC4/RAD23B/DDB2/POLD4/RPA3/POLE2/RAD23A/RFC5/POLE3/RFC2/POLD3/LIG1/PCNA/POLD2/POLD1"]
["KEGG_MISMATCH_REPAIR","KEGG_MISMATCH_REPAIR",22,-0.615349324618015,-1.77396495196576,0.0100921634079847,0.0487307318842688,0.0358157979591636,5970,"tags=64%, list=24%, signal=48%","RFC3/MSH2/SSBP1/RFC4/POLD4/RPA3/RFC5/RFC2/POLD3/LIG1/PCNA/EXO1/POLD2/POLD1"]
["KEGG_ONE_CARBON_POOL_BY_FOLATE","KEGG_ONE_CARBON_POOL_BY_FOLATE",16,-0.650507445927553,-1.73981264941446,0.0129451787063174,0.0607704222602121,0.0446646516767675,6007,"tags=88%, list=24%, signal=67%","MTHFD2L/MTHFR/MTHFD1L/GART/ALDH1L1/MTHFS/MTHFD1/FTCD/DHFR/MTHFD2/TYMS/ATIC/SHMT2/SHMT1"]
["KEGG_GRAFT_VERSUS_HOST_DISEASE","KEGG_GRAFT_VERSUS_HOST_DISEASE",32,0.580097415426875,1.53040117492067,0.0140315152253398,0.0640898938670925,0.0471043754364181,6421,"tags=53%, list=26%, signal=40%","IL6/HLA-DQA2/CD28/CD86/IL1A/CD80/HLA-DQA1/IFNG/KLRD1/HLA-DPA1/HLA-DOB/HLA-DRA/HLA-DMB/HLA-DOA/IL1B/TNF/HLA-DPB1"]
["KEGG_PRIMARY_IMMUNODEFICIENCY","KEGG_PRIMARY_IMMUNODEFICIENCY",32,0.57426658183214,1.51501838860437,0.0164475049899773,0.071908863952454,0.0528511114692592,5179,"tags=44%, list=21%, signal=35%","IGLL1/TNFRSF13C/IL7R/BTK/PTPRC/CD19/TNFRSF13B/CD40LG/CD4/CD79A/ICOS/CD3D/CD3E/JAK3"]
["KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY","KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY",61,0.510860446232716,1.48233893169417,0.0165943532197971,0.071908863952454,0.0528511114692592,6180,"tags=30%, list=25%, signal=22%","IRS4/NPY/SLC2A4/MAPK10/AKT3/LEPR/CD36/PRKAA2/ADIPOQ/RXRG/ACACB/ACSL4/POMC/SOCS3/NFKBIA/IRS1/IRS2/TNF"]
["KEGG_LEISHMANIA_INFECTION","KEGG_LEISHMANIA_INFECTION",68,0.499697590090221,1.47290628167824,0.0188145956527568,0.0757063491741882,0.0556421625820879,6421,"tags=49%, list=26%, signal=36%","CR1/PRKCB/FCGR2C/FCGR3B/HLA-DQA2/C3/TGFB3/IL1A/ITGA4/FCGR3A/PTGS2/FCGR2A/TLR2/ITGB2/TLR4/ITGAM/FCGR1A/NCF2/NCF1/HLA-DQA1/NCF4/IFNG/TGFB1/ITGB1/HLA-DPA1/HLA-DOB/HLA-DRA/HLA-DMB/NFKBIA/HLA-DOA/IL1B/TNF/HLA-DPB1"]
["KEGG_PPAR_SIGNALING_PATHWAY","KEGG_PPAR_SIGNALING_PATHWAY",58,0.506790609193967,1.45664042095382,0.018335061390434,0.0757063491741882,0.0556421625820879,5862,"tags=34%, list=23%, signal=26%","APOA2/APOC3/SORBS1/OLR1/FABP4/CD36/ADIPOQ/ILK/ANGPTL4/RXRG/PLTP/LPL/SLC27A6/MMP1/ACSL4/ACOX2/FADS2/FABP2/CYP27A1/FABP3"]
["KEGG_GAP_JUNCTION","KEGG_GAP_JUNCTION",77,0.479663357809186,1.43059241261919,0.0186672777897039,0.0757063491741882,0.0556421625820879,4170,"tags=30%, list=17%, signal=25%","HTR2A/ADCY2/ADCY5/GUCY1A1/GUCY1B1/PRKCB/PRKG1/TUBA1A/PDGFRA/PDGFC/ADCY1/LPAR1/ITPR1/TUBB6/PDGFRB/GJA1/GNAI1/PDGFD/PLCB2/ITPR2/PRKACB/GUCY1A2/ADCY4"]
["KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS","KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS",92,0.466404194679491,1.41846505966159,0.0216909873331169,0.0852506246348081,0.0626569523943155,4833,"tags=29%, list=19%, signal=24%","CFL2/PRKCB/AMPH/AKT3/FCGR2C/PLCG2/PTPRC/FCGR2B/DOCK2/PIK3CG/FCGR3A/FCGR2A/WAS/HCK/PIK3R5/DNM3/FCGR1A/VAV1/GSN/PIK3CD/NCF1/WASF1/PLPP1/ASAP1/WASF3/GAB2/RAC2"]
["KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY","KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY",73,0.476304341411079,1.41262938752188,0.0235605043253883,0.0904937552497869,0.0665105146027708,8391,"tags=45%, list=34%, signal=30%","CD79B/PRKCB/AKT3/CD22/PLCG2/BTK/FCGR2B/CD19/CR2/PIK3CG/NFATC4/PIK3R5/LILRB3/CD72/CD79A/VAV1/PIK3CD/RASGRP3/RAC2/CARD11/NFATC1/PIK3R1/NFKBIA/PIK3AP1/NFATC2/PIK3CA/PPP3CB/JUN/SOS1/PPP3CC/KRAS/SOS2/INPP5D"]
["KEGG_BUTANOATE_METABOLISM","KEGG_BUTANOATE_METABOLISM",28,-0.546841889004137,-1.63552450623505,0.0298901715024512,0.107724758112287,0.0791748455761437,5473,"tags=50%, list=22%, signal=39%","AACS/ALDH9A1/ALDH2/ACSM3/PDHA1/ACAT2/HADH/L2HGDH/ALDH3A2/ACADS/BDH1/ECHS1/AKR1B10/GAD1"]
["KEGG_NITROGEN_METABOLISM","KEGG_NITROGEN_METABOLISM",20,-0.586722285627245,-1.63179767203769,0.0294326688774137,0.107724758112287,0.0791748455761437,858,"tags=30%, list=3%, signal=29%","CA1/CA2/CA9/CTH/CPS1/CA6"]
["KEGG_TYPE_II_DIABETES_MELLITUS","KEGG_TYPE_II_DIABETES_MELLITUS",40,0.542568060052394,1.48720496428969,0.0299589563980917,0.107724758112287,0.0791748455761437,6180,"tags=40%, list=25%, signal=30%","IRS4/SLC2A2/SLC2A4/MAPK10/CACNA1A/CACNA1C/ADIPOQ/PIK3CG/PIK3R5/PIK3CD/HK3/SOCS3/PIK3R1/IRS1/IRS2/TNF"]
["KEGG_VIRAL_MYOCARDITIS","KEGG_VIRAL_MYOCARDITIS",60,0.492083036709593,1.42516799431057,0.032258064516129,0.113575268817204,0.0834748160724392,6677,"tags=45%, list=27%, signal=33%","MYH11/SGCD/SGCA/LAMA2/CAV1/DMD/HLA-DQA2/CD28/SGCG/CD86/CD80/ITGB2/CD40LG/ITGAL/MYH10/HLA-DQA1/RAC2/HLA-DPA1/HLA-DOB/HLA-DRA/HLA-DMB/MYH3/FYN/HLA-DOA/ABL2/HLA-DPB1/SGCB"]
["KEGG_TYPE_I_DIABETES_MELLITUS","KEGG_TYPE_I_DIABETES_MELLITUS",37,0.529554509353459,1.43511607423875,0.0331695331695332,0.114401042972472,0.0840817382170766,6421,"tags=49%, list=26%, signal=36%","PTPRN/CPE/HLA-DQA2/CD28/CD86/IL1A/CD80/HLA-DQA1/IFNG/HLA-DPA1/HLA-DOB/LTA/HLA-DRA/HLA-DMB/HLA-DOA/IL1B/TNF/HLA-DPB1"]
["KEGG_PRION_DISEASES","KEGG_PRION_DISEASES",31,0.567471581232315,1.49463615430125,0.0367015336413983,0.124051183707926,0.0911743362038948,6167,"tags=55%, list=25%, signal=41%","C7/IL6/NCAM1/NCAM2/IL1A/C5/C1QB/C1QC/PRNP/C1QA/PRKACB/HSPA1A/C6/LAMC1/EGR1/FYN/IL1B"]
["KEGG_ALPHA_LINOLENIC_ACID_METABOLISM","KEGG_ALPHA_LINOLENIC_ACID_METABOLISM",17,0.617310204100937,1.45603120903069,0.0441919191919192,0.146439889086948,0.107629441994767,2913,"tags=29%, list=12%, signal=26%","PLA2G1B/PLA2G2C/PLA2G12B/PLA2G2D/PLA2G5"]

{"sheet":"table S11","index":10,"n_rows":30,"n_cols":449,"rows_kept":30,"merged":[[0,0,0,9]]}
["Immune function Score"]
[]
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{"sheet":"table S12","index":11,"n_rows":75329,"n_cols":140,"rows_kept":1125,"cut":true,"merged":[[0,0,0,11]],"bounds":{"rows_first":500,"rows_last":125,"rows_between":500,"halvings":2},"flags":["strings_cut"]}
[]
[]
["Hugo_Symbol","Entrez_Gene_Id","Center","NCBI_Build","Chromosome","Start_Position","End_Position","Strand","Variant_Classification","Variant_Type","Reference_Allele","Tumor_Seq_Allele1","Tumor_Seq_Allele2","dbSNP_RS","dbSNP_Val_Status","Tumor_Sample_Barcode","Matched_Norm_Sample_Barcode","Match_Norm_Seq_Allele1","Match_Norm_Seq_Allele2","Tumor_Validation_Allele1","Tumor_Validation_Allele2","Match_Norm_Validation_Allele1","Match_Norm_Validation_Allele2","Verification_Status","Validation_Status","Mutation_Status","Sequencing_Phase","Sequence_Source","Validation_Method","Score","BAM_File","Sequencer","Tumor_Sample_UUID","Matched_Norm_Sample_UUID","HGVSc","HGVSp","HGVSp_Short","Transcript_ID","Exon_Number","t_depth","t_ref_count","t_alt_count","n_depth","n_ref_count","n_alt_count","all_effects","Allele","Gene","Feature","Feature_type","One_Consequence","Consequence","cDNA_position","CDS_position","Protein_position","Amino_acids","Codons","Existing_variation","DISTANCE","TRANSCRIPT_STRAND","SYMBOL","SYMBOL_SOURCE","HGNC_ID","BIOTYPE","CANONICAL","CCDS","ENSP","SWISSPROT","TREMBL","UNIPARC","UNIPROT_ISOFORM","RefSeq","MANE","APPRIS","FLAGS","SIFT","PolyPhen","EXON","INTRON","DOMAINS","1000G_AF","1000G_AFR_AF","1000G_AMR_AF","1000G_EAS_AF","1000G_EUR_AF","1000G_SAS_AF","ESP_AA_AF","ESP_EA_AF","gnomAD_AF","gnomAD_AFR_AF","gnomAD_AMR_AF","gnomAD_ASJ_AF","gnomAD_EAS_AF","gnomAD_FIN_AF","gnomAD_NFE_AF","gnomAD_OTH_AF","gnomAD_SAS_AF","MAX_AF","MAX_AF_POPS","gnomAD_non_cancer_AF","gnomAD_non_cancer_AFR_AF","gnomAD_non_cancer_AMI_AF","gnomAD_non_cancer_AMR_AF","gnomAD_non_cancer_ASJ_AF","gnomAD_non_cancer_EAS_AF","gnomAD_non_cancer_FIN_AF","gnomAD_non_cancer_MID_AF","gnomAD_non_cancer_NFE_AF","gnomAD_non_cancer_OTH_AF","gnomAD_non_cancer_SAS_AF","gnomAD_non_cancer_MAX_AF_adj","gnomAD_non_cancer_MAX_AF_POPS_adj","CLIN_SIG","SOMATIC","PUBMED","TRANSCRIPTION_FACTORS","MOTIF_NAME","MOTIF_POS","HIGH_INF_POS","MOTIF_SCORE_CHANGE","miRNA","IMPACT","PICK","VARIANT_CLASS","TSL","HGVS_OFFSET","PHENO","GENE_PHENO","CONTEXT","tumor_bam_uuid","normal_bam_uuid","case_id","GDC_FILTER","COSMIC","hotspot","RNA_Support","RNA_depth","RNA_ref_count","RNA_alt_count","callers"]
["TNFRSF4",7293,"BI","GRCh38","chr1",1212086,1212086,"+","Missense_Mutation","SNP","C","C","T","rs377530517",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.490G>A","p.Ala164Thr","p.A164T","ENST00000379236","2024-05-07",45,27,18,46,null,null,"TNFRSF4,missense_variant,p.A164T,ENST00000379236,NM_003327.4,c.490G>A,MODERATE,YES,deleterious(0.05),possibly_damaging(0.536),-1;SDF4,downstream_gene_variant,,ENST00000263741,NM_016547.3,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000360001,NM_016176.6,,MODIFIER,YES,,,-1;SDF4,downstream_gene_variant,,ENST00000660930,,,MODIFIER,,,,-1;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000453580,,n.326G>A,MODIFIER,,,,-1;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,,n.1070G>A,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000465727,,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000478938,,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000494748,,,MODIFIER,,,,-1","T","ENSG00000186827","ENST00000379236","Transcript","missense_variant","missense_variant","516/1075","490/834","164/277","A/T","Gca/Aca","rs377530517;COSV55419808",null,-1,"TNFRSF4","HGNC","HGNC:11918","protein_coding","YES","CCDS11.1","ENSP00000368538","P43489.171",null,"UPI00001370E5",null,"NM_003327.4","NM_003327.4","P1",null,"deleterious(0.05)","possibly_damaging(0.536)","2024-05-07",null,"Gene3D:2.10.50.10;PDB-ENSP_mappings:2hev.R;PDB-ENSP_mappings:2hey.R;PDB-ENSP_mappings:2hey.T;PDB-ENSP_mappings:6ogx.G;PDB-ENSP_mappings:6okm.R;PDB-ENSP_mappings:6okn.E;PDB-ENSP_mappings:6okn.R;Pfam:PF00020;PANTHER:PTHR47881;SMART:SM00208;SMART:SM01411;Superfamily:SSF57586;CDD:cd13406;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.614e-05",0,"2.904e-05",0,0,0,"2.695e-05",0,0,"2.904e-05","gnomAD_AMR","6.761139957234263e-06",0,0,0,0,0,0,0,"1.5438799891853705e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GATTGCGTCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4020849","N","Unknown",{"$nulls":3},"muse;varscan2"]
["TNFRSF4",7293,"BI","GRCh38","chr1",1212089,1212089,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.487G>A","p.Asp163Asn","p.D163N","ENST00000379236","2024-05-07",44,28,16,46,null,null,"TNFRSF4,missense_variant,p.D163N,ENST00000379236,NM_003327.4,c.487G>A,MODERATE,YES,tolerated(0.07),possibly_damaging(0.817),-1;SDF4,downstream_gene_variant,,ENST00000263741,NM_016547.3,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000360001,NM_016176.6,,MODIFIER,YES,,,-1;SDF4,downstream_gene_variant,,ENST00000660930,,,MODIFIER,,,,-1;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000453580,,n.323G>A,MODIFIER,,,,-1;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,,n.1067G>A,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000465727,,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000478938,,,MODIFIER,,,,-1;SDF4,downstream_gene_variant,,ENST00000494748,,,MODIFIER,,,,-1","T","ENSG00000186827","ENST00000379236","Transcript","missense_variant","missense_variant","513/1075","487/834","163/277","D/N","Gac/Aac","COSV55419812",null,-1,"TNFRSF4","HGNC","HGNC:11918","protein_coding","YES","CCDS11.1","ENSP00000368538","P43489.171",null,"UPI00001370E5",null,"NM_003327.4","NM_003327.4","P1",null,"tolerated(0.07)","possibly_damaging(0.817)","2024-05-07",null,"Gene3D:2.10.50.10;PDB-ENSP_mappings:2hev.R;PDB-ENSP_mappings:2hey.R;PDB-ENSP_mappings:2hey.T;PDB-ENSP_mappings:6ogx.G;PDB-ENSP_mappings:6okm.R;PDB-ENSP_mappings:6okn.E;PDB-ENSP_mappings:6okn.R;Pfam:PF00020;PANTHER:PTHR47881;SMART:SM00208;SMART:SM01411;Superfamily:SSF57586;CDD:cd13406;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGCGTCCGAGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4020850","N","Unknown",{"$nulls":3},"muse;varscan2"]
["TP73",7161,"BI","GRCh38","chr1",3707598,3707598,"+","Missense_Mutation","SNP","C","C","T","rs746207826",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.236C>T","p.Ala79Val","p.A79V","ENST00000378295","2024-04-14",134,83,51,142,null,null,"TP73,missense_variant,p.A79V,ENST00000378295,NM_005427.4&NM_001204185.2,c.236C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.687),1;TP73,missense_variant,p.A30V,ENST00000378288,NM_001126240.3&NM_001204190.2&NM_001204191.2,c.89C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.889),1;TP73,missense_variant,p.A79V,ENST00000357733,NM_001204187.1,c.236C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.906),1;TP73,missense_variant,p.A79V,ENST00000346387,NM_001204188.1,c.236C>T,MODERATE,,tolerated(0.07),possibly_damaging(0.833),1;TP73,missense_variant,p.A79V,ENST00000604074,NM_001204186.2,c.236C>T,MODERATE,,deleterious(0.01),probably_damaging(0.922),1;TP73,missense_variant,p.A79V,ENST00000354437,NM_001204184.2,c.236C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.888),1;TP73,missense_variant,p.A30V,ENST00000378285,NM_001126241.3,c.89C>T,MODERATE,,deleterious(0.04),probably_damaging(0.937),1;TP73,missense_variant,p.A30V,ENST00000378280,NM_001126242.3&NM_001204189.2,c.89C>T,MODERATE,,deleterious(0.04),benign(0.239),1;TP73,missense_variant,p.A8V,ENST00000378290,NM_001204192.2,c.23C>T,MODERATE,,deleterious(0),possibly_damaging(0.687),1;TP73,missense_variant,p.A79V,ENST00000603362,,c.236C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.906),1;TP73,missense_variant,p.A79V,ENST00000604479,,c.236C>T,MODERATE,,tolerated(0.07),possibly_damaging(0.833),1;TP73,non_coding_transcript_exon_variant,,ENST00000603364,,n.288C>T,MODIFIER,,,,1;TP73,non_coding_transcript_exon_variant,,ENST00000604194,,n.156C>T,MODIFIER,,,,1;TP73-AS2,downstream_gene_variant,,ENST00000416554,,,MODIFIER,YES,,,-1","T","ENSG00000078900","ENST00000378295","Transcript","missense_variant","missense_variant","395/5192","236/1911","79/636","A/V","gCg/gTg","rs746207826;COSV60702387",null,1,"TP73","HGNC","HGNC:12003","protein_coding","YES","CCDS49.1","ENSP00000367545","O15350.226","A1PQX5.3","UPI000002E988","O15350-1","NM_005427.4;NM_001204185.2","NM_005427.4","P2",null,"deleterious(0.01)","possibly_damaging(0.687)","2024-04-14",null,"PANTHER:PTHR11447;PANTHER:PTHR11447:SF21;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.206e-05",0,0,0,0,0,"8.979e-06",1.639E-4,"3.272e-05",1.639E-4,"gnomAD_OTH","6.763059900549706e-06","2.4339200535905547e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCGCGCGGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2080793;COSM2080794","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NPHP4",261734,"BI","GRCh38","chr1",5967339,5967339,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.477del","p.Arg160GlufsTer18","p.R160Efs*18","ENST00000378156","2024-05-30",27,20,7,24,null,null,"NPHP4,frameshift_variant,p.R160Efs*18,ENST00000378156,NM_001291594.2&NM_001291593.2&NM_015102.5,c.477del,HIGH,YES,,,-1;NPHP4,frameshift_variant,p.R160Efs*18,ENST00000622020,,c.477del,HIGH,,,,-1;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,,n.379del,MODIFIER,,,,-1;NPHP4,frameshift_variant,p.R160Efs*18,ENST00000489180,,c.477del,HIGH,,,,-1;NPHP4,frameshift_variant,p.R160Efs*18,ENST00000378169,,c.477del,HIGH,,,,-1","-","ENSG00000131697","ENST00000378156","Transcript","frameshift_variant","frameshift_variant","697/4955","477/4281","159/1426","P/X","ccC/cc",null,null,-1,"NPHP4","HGNC","HGNC:19104","protein_coding","YES","CCDS44052.1","ENSP00000367398","O75161.161",null,"UPI00001303E5","O75161-1","NM_001291594.2;NM_001291593.2;NM_015102.5","NM_015102.5","P2",{"$nulls":3},"2024-05-30",null,"PANTHER:PTHR31043",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"GGCTCTGGGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MTOR",2475,"BI","GRCh38","chr1",11243148,11243148,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1378C>T","p.Arg460Ter","p.R460*","ENST00000361445","9/58",107,72,35,82,null,null,"MTOR,stop_gained,p.R460*,ENST00000361445,NM_004958.4,c.1378C>T,HIGH,YES,,,-1","A","ENSG00000198793","ENST00000361445","Transcript","stop_gained","stop_gained","1499/8721","1378/7650","460/2549","R/*","Cga/Tga","COSV63873085",null,-1,"MTOR","HGNC","HGNC:3942","protein_coding","YES","CCDS127.1","ENSP00000354558","P42345.215",null,"UPI000012ABD3",null,"NM_004958.4","NM_004958.4","P1",{"$nulls":3},"9/58",null,"PDB-ENSP_mappings:5h64.A;PDB-ENSP_mappings:5h64.a;PDB-ENSP_mappings:5zcs.A;PDB-ENSP_mappings:5zcs.B;PDB-ENSP_mappings:6bcu.A;PDB-ENSP_mappings:6bcu.B;PDB-ENSP_mappings:6bcx.A;PDB-ENSP_mappings:6bcx.B;PDB-ENSP_mappings:6sb0.A;PDB-ENSP_mappings:6sb0.B;PDB-ENSP_mappings:6sb2.A;PDB-ENSP_mappings:6sb2.B;PANTHER:PTHR11139;PANTHER:PTHR11139:SF9;Gene3D:1.25.10.10;Superfamily:SSF48371;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"CGCTCGGATGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4020702","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPEN",23013,"BI","GRCh38","chr1",15932121,15932121,"+","Missense_Mutation","SNP","G","G","A","rs745908478",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5881G>A","p.Asp1961Asn","p.D1961N","ENST00000375759","2024-11-15",88,51,37,87,null,null,"SPEN,missense_variant,p.D1961N,ENST00000375759,NM_015001.3,c.5881G>A,MODERATE,YES,deleterious(0.02),benign(0.088),1;SPEN,downstream_gene_variant,,ENST00000673875,,,MODIFIER,,,,1","A","ENSG00000065526","ENST00000375759","Transcript","missense_variant","missense_variant","6242/12385","5881/10995","1961/3664","D/N","Gat/Aat","rs745908478;COSV65363444",null,1,"SPEN","HGNC","HGNC:17575","protein_coding","YES","CCDS164.1","ENSP00000364912","Q96T58.190",null,"UPI000006FF0C",null,"NM_015001.3","NM_015001.3","P1",null,"deleterious(0.02)","benign(0.088)","2024-11-15",null,"PANTHER:PTHR23189;PANTHER:PTHR23189:SF48;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"1.61e-05",0,"5.796e-05",0,"5.456e-05",0,"8.946e-06",0,0,"5.796e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GAGCCGATGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2087973","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CROCC",9696,"BI","GRCh38","chr1",16946344,16946344,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2222T>G","p.Leu741Arg","p.L741R","ENST00000375541","16/37",175,151,24,148,null,null,"CROCC,missense_variant,p.L741R,ENST00000375541,NM_014675.5,c.2222T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.491),1;CROCC,missense_variant,p.L601R,ENST00000445545,,c.1802T>G,MODERATE,,deleterious(0),benign(0.287),1;CROCC,missense_variant,p.L635R,ENST00000467938,,c.1904T>G,MODERATE,,deleterious(0),possibly_damaging(0.491),1;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,,n.1312T>G,MODIFIER,,,,1;CROCC,non_coding_transcript_exon_variant,,ENST00000486318,,n.389T>G,MODIFIER,,,,1;CROCC,downstream_gene_variant,,ENST00000466256,,,MODIFIER,,,,1;CROCC,upstream_gene_variant,,ENST00000477773,,,MODIFIER,,,,1;CROCC,upstream_gene_variant,,ENST00000498688,,,MODIFIER,,,,1;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,,n.648T>G,MODIFIER,,,,1","G","ENSG00000058453","ENST00000375541","Transcript","missense_variant","missense_variant","2310/6660","2222/6054","741/2017","L/R","cTg/cGg","COSV100978212",null,1,"CROCC","HGNC","HGNC:21299","protein_coding","YES","CCDS30616.1","ENSP00000364691","Q5TZA2.137",null,"UPI000042B0BB",null,"NM_014675.5","NM_014675.5","P1",null,"deleterious(0)","possibly_damaging(0.491)","16/37",null,"PANTHER:PTHR23159;PANTHER:PTHR23159:SF34",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CAAGCTGAGCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PADI4",23569,"BI","GRCh38","chr1",17363556,17363557,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1797dup","p.Lys600GlnfsTer113","p.K600Qfs*113","ENST00000375448","16/16",33,24,9,38,null,null,"PADI4,frameshift_variant,p.K600Qfs*113,ENST00000375448,NM_012387.3,c.1797dup,HIGH,YES,,,1;PADI4,downstream_gene_variant,,ENST00000467001,,,MODIFIER,,,,1","C","ENSG00000159339","ENST00000375448","Transcript","frameshift_variant","frameshift_variant","1819-1820/2267","1793-1794/1992","598/663","I/IX","atc/atCc",null,null,1,"PADI4","HGNC","HGNC:18368","protein_coding","YES","CCDS180.1","ENSP00000364597","Q9UM07.181",null,"UPI000013DFF1",null,"NM_012387.3","NM_012387.3","P1",{"$nulls":3},"16/16",null,"PDB-ENSP_mappings:1wd8.A;PDB-ENSP_mappings:1wd9.A;PDB-ENSP_mappings:1wda.A;PDB-ENSP_mappings:2dew.X;PDB-ENSP_mappings:2dex.X;PDB-ENSP_mappings:2dey.X;PDB-ENSP_mappings:2dw5.A;PDB-ENSP_mappings:3apm.A;PDB-ENSP_mappings:3apn.A;PDB-ENSP_mappings:3b1t.A;PDB-ENSP_mappings:3b1u.A;PDB-ENSP_mappings:4dkt.A;PDB-ENSP_mappings:4x8c.A;PDB-ENSP_mappings:4x8g.A;PDB-ENSP_mappings:5n0m.A;PDB-ENSP_mappings:5n0y.A;PDB-ENSP_mappings:5n0z.A;PDB-ENSP_mappings:5n1b.A;PANTHER:PTHR10837;PANTHER:PTHR10837:SF3;Gene3D:3.75.10.10;PIRSF:PIRSF001247;Pfam:PF03068;Superfamily:SSF55909",{"$nulls":41},"HIGH",1,"insertion",1,4,null,1,"GGGCATCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["EPHB2",2048,"BI","GRCh38","chr1",22864890,22864891,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.985dup","p.Gln329ProfsTer9","p.Q329Pfs*9","ENST00000400191","2024-05-17",103,77,26,82,null,null,"EPHB2,frameshift_variant,p.Q329Pfs*9,ENST00000374630,NM_017449.5&NM_001309192.2,c.985dup,HIGH,,,,1;EPHB2,frameshift_variant,p.Q329Pfs*9,ENST00000400191,NM_001309193.2,c.985dup,HIGH,YES,,,1;EPHB2,frameshift_variant,p.Q323Pfs*9,ENST00000374627,,c.967dup,HIGH,,,,1;EPHB2,frameshift_variant,p.Q329Pfs*9,ENST00000374632,NM_004442.7,c.985dup,HIGH,,,,1;EPHB2,frameshift_variant,p.Q329Pfs*9,ENST00000544305,,c.985dup,HIGH,,,,1;MIR4253,upstream_gene_variant,,ENST00000581187,,,MODIFIER,YES,,,-1;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,,n.226dup,MODIFIER,,,,1;EPHB2,upstream_gene_variant,,ENST00000490436,,,MODIFIER,,,,1","C","ENSG00000133216","ENST00000400191","Transcript","frameshift_variant","frameshift_variant","999-1000/10816","981-982/3168","327-328/1055","-/X","-/C",null,null,1,"EPHB2","HGNC","HGNC:3393","protein_coding","YES","CCDS81279.1","ENSP00000383053","P29323.236",null,"UPI0000033EC3","P29323-1","NM_001309193.2",{"$nulls":5},"2024-05-17",null,"CDD:cd00063;Pfam:PF00041;PIRSF:PIRSF000666;Gene3D:2.60.40.10;SMART:SM00060;Superfamily:SSF57184;Superfamily:SSF49265;PROSITE_profiles:PS50853;PANTHER:PTHR24416;PANTHER:PTHR24416:SF123",{"$nulls":41},"HIGH",1,"insertion",1,4,null,1,"TCCGCGCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ARID1A",8289,"BI","GRCh38","chr1",26780482,26780482,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.6584T>C","p.Leu2195Pro","p.L2195P","ENST00000324856","20/20",107,79,27,101,null,null,"ARID1A,missense_variant,p.L2195P,ENST00000324856,NM_006015.6,c.6584T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ARID1A,missense_variant,p.L1813P,ENST00000636219,,c.5438T>C,MODERATE,,deleterious(0),probably_damaging(1),1;ARID1A,missense_variant,p.L1811P,ENST00000430799,,c.5432T>C,MODERATE,,deleterious(0),probably_damaging(0.997),1;ARID1A,missense_variant,p.L1812P,ENST00000374152,,c.5435T>C,MODERATE,,deleterious(0),probably_damaging(1),1;ARID1A,missense_variant,p.L1978P,ENST00000457599,NM_139135.4,c.5933T>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;ARID1A,3_prime_UTR_variant,,ENST00000466382,,c.*1567T>C,MODIFIER,,,,1;ARID1A,3_prime_UTR_variant,,ENST00000532781,,c.*1516T>C,MODIFIER,,,,1;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,,n.2384T>C,MODIFIER,,,,1","C","ENSG00000117713","ENST00000324856","Transcript","missense_variant","missense_variant","6973/8595","6584/6858","2195/2285","L/P","cTc/cCc","COSV61380158",null,1,"ARID1A","HGNC","HGNC:11110","protein_coding","YES","CCDS285.1","ENSP00000320485","O14497.203",null,"UPI0000167B91","O14497-1","NM_006015.6","NM_006015.6","P3",null,"deleterious(0)","probably_damaging(1)","20/20",null,"Gene3D:1.25.10.10;PDB-ENSP_mappings:6lth.L;PDB-ENSP_mappings:6ltj.L;Pfam:PF12031;PANTHER:PTHR12656;PANTHER:PTHR12656:SF12;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAACCTCCTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4031026","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC9A1",6548,"BI","GRCh38","chr1",27102525,27102525,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1680G>C","p.Lys560Asn","p.K560N","ENST00000263980","2024-08-12",177,133,44,181,null,null,"SLC9A1,missense_variant,p.K560N,ENST00000263980,NM_003047.5,c.1680G>C,MODERATE,YES,deleterious(0),probably_damaging(0.943),-1;SLC9A1,downstream_gene_variant,,ENST00000374086,,,MODIFIER,,,,-1;SLC9A1,upstream_gene_variant,,ENST00000490329,,,MODIFIER,,,,-1;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,,n.905G>C,MODIFIER,,,,-1;SLC9A1,non_coding_transcript_exon_variant,,ENST00000447808,,n.157G>C,MODIFIER,,,,-1","G","ENSG00000090020","ENST00000263980","Transcript","missense_variant","missense_variant","2471/4737","1680/2448","560/815","K/N","aaG/aaC","COSV56054241",null,-1,"SLC9A1","HGNC","HGNC:11071","protein_coding","YES","CCDS295.1","ENSP00000263980","P19634.218",null,"UPI000012FD1B","P19634-1","NM_003047.5","NM_003047.5","P1",null,"deleterious(0)","probably_damaging(0.943)","2024-08-12",null,"PANTHER:PTHR10110:SF59;PANTHER:PTHR10110;TIGRFAM:TIGR00840",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGACACTTCTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4031065","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["WDTC1",23038,"BI","GRCh38","chr1",27294616,27294617,"+","Frame_Shift_Ins","INS","-","-","G","rs747972901",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.868dup","p.Glu290GlyfsTer7","p.E290Gfs*7","ENST00000319394","2024-09-16",46,29,16,35,null,null,"WDTC1,frameshift_variant,p.E290Gfs*7,ENST00000319394,NM_001276252.2,c.868dup,HIGH,YES,,,1;WDTC1,frameshift_variant,p.E290Gfs*7,ENST00000361771,NM_015023.5,c.868dup,HIGH,,,,1;WDTC1,frameshift_variant,p.E290Gfs*7,ENST00000447062,,c.868dup,HIGH,,,,1;WDTC1,non_coding_transcript_exon_variant,,ENST00000491239,,n.542dup,MODIFIER,,,,1","G","ENSG00000142784","ENST00000319394","Transcript","frameshift_variant","frameshift_variant","1279-1280/4706","860-861/2034","287/677","M/MX","atg/atGg","rs747972901",null,1,"WDTC1","HGNC","HGNC:29175","protein_coding","YES","CCDS60044.1","ENSP00000317971","Q8N5D0.167",null,"UPI000004814E","Q8N5D0-1","NM_001276252.2","NM_001276252.2","P4",{"$nulls":3},"2024-09-16",null,"PANTHER:PTHR15574;PANTHER:PTHR15574:SF40;Superfamily:SSF50978",{"$nulls":6},0.004923,1.696E-3,"8.42e-05",0.0001244,"5.819e-05",0.0002,0,0,0.0001244,0,"3.284e-05",0.004923,"AA","6.781499905628152e-06","2.4426000891253352e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"insertion",1,8,null,null,"CAACATGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1473826","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LAPTM5",7805,"BI","GRCh38","chr1",30735181,30735181,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.691C>A","p.Leu231Ile","p.L231I","ENST00000294507","2024-07-08",281,251,30,303,null,null,"LAPTM5,missense_variant,p.L231I,ENST00000294507,NM_006762.3,c.691C>A,MODERATE,YES,tolerated(0.5),benign(0.116),-1;MIR4420,downstream_gene_variant,,ENST00000583944,,,MODIFIER,YES,,,-1;LAPTM5,non_coding_transcript_exon_variant,,ENST00000464569,,n.916C>A,MODIFIER,,,,-1;AL137857.1,downstream_gene_variant,,ENST00000655364,,,MODIFIER,YES,,,1","T","ENSG00000162511","ENST00000294507","Transcript","missense_variant","missense_variant","720/2177","691/789","231/262","L/I","Ctc/Atc","COSV53853591",null,-1,"LAPTM5","HGNC","HGNC:29612","protein_coding","YES","CCDS337.1","ENSP00000294507","Q13571.152","Q5TBB8.138","UPI000012E20A",null,"NM_006762.3","NM_006762.3","P1",null,"tolerated(0.5)","benign(0.116)","2024-07-08",null,"Pfam:PF03821;PANTHER:PTHR12479;PANTHER:PTHR12479:SF2;TIGRFAM:TIGR00799",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGGAGCATCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4031328","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL16A1",1307,"BI","GRCh38","chr1",31653608,31653608,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4603G>A","p.Gly1535Ser","p.G1535S","ENST00000373672","70/71",50,38,12,58,null,null,"COL16A1,missense_variant,p.G1535S,ENST00000373672,NM_001856.4,c.4603G>A,MODERATE,YES,deleterious(0.01),probably_damaging(1),-1;COL16A1,downstream_gene_variant,,ENST00000440437,,,MODIFIER,,,,-1;COL16A1,non_coding_transcript_exon_variant,,ENST00000461217,,n.848G>A,MODIFIER,,,,-1;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,,n.2502G>A,MODIFIER,,,,-1;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,,n.2148G>A,MODIFIER,,,,-1;PEF1-AS1,intron_variant,,ENST00000585413,,n.270+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000585660,,n.272+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000587445,,n.227+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000589462,,n.260+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000591592,,n.250+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000591929,,n.339+34C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000593188,,n.235+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000607926,,n.238+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000608246,,n.270+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000608332,,n.227+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000608888,,n.251+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000609033,,n.260+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000609338,,n.201+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000609373,,n.227+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000609549,,n.388+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000609625,,n.388+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000610043,,n.522+1364C>T,MODIFIER,YES,,,1;PEF1-AS1,intron_variant,,ENST00000610216,,n.230+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000623425,,n.158+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000623791,,n.388+1620C>T,MODIFIER,,,,1;PEF1-AS1,intron_variant,,ENST00000624388,,n.194+1620C>T,MODIFIER,,,,1;PEF1-AS1,upstream_gene_variant,,ENST00000445166,,,MODIFIER,,,,1;AC114488.2,downstream_gene_variant,,ENST00000581333,,,MODIFIER,YES,,,1;PEF1-AS1,upstream_gene_variant,,ENST00000588288,,,MODIFIER,,,,1;PEF1-AS1,upstream_gene_variant,,ENST00000623786,,,MODIFIER,,,,1","T","ENSG00000084636","ENST00000373672","Transcript","missense_variant","missense_variant","4818/5418","4603/4815","1535/1604","G/S","Ggc/Agc","COSV54708166;COSV99595160",null,-1,"COL16A1","HGNC","HGNC:2193","protein_coding","YES","CCDS41297.1","ENSP00000362776","Q07092.184",null,"UPI0000203DD1","Q07092-1","NM_001856.4","NM_001856.4","P1",null,"deleterious(0.01)","probably_damaging(1)","70/71",null,"PANTHER:PTHR24023;PANTHER:PTHR24023:SF372;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"1;1",null,"GGGGCCGGGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4031377;COSM4031378","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZMYM4",9202,"BI","GRCh38","chr1",35381359,35381359,"+","Frame_Shift_Del","DEL","A","A","-","rs755663477",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1290del","p.Lys430AsnfsTer6","p.K430Nfs*6","ENST00000314607","2024-08-30",72,50,20,70,null,null,"ZMYM4,frameshift_variant,p.K430Nfs*6,ENST00000314607,NM_001350138.2&NM_005095.3&NM_001375653.1,c.1290del,HIGH,YES,,,1;ZMYM4,frameshift_variant,p.K179Nfs*6,ENST00000457946,NM_001350140.2&NM_001350139.2,c.535del,HIGH,,,,1","-","ENSG00000146463","ENST00000314607","Transcript","frameshift_variant","frameshift_variant","1620/7366","1282/4647","428/1548","K/X","Aaa/aa","rs755663477;COSV58913572",null,1,"ZMYM4","HGNC","HGNC:13055","protein_coding","YES","CCDS389.1","ENSP00000322915","Q5VZL5.137",null,"UPI0000203EE6","Q5VZL5-1","NM_001350138.2;NM_005095.3;NM_001375653.1","NM_005095.3","P1",{"$nulls":3},"2024-08-30",null,"PANTHER:PTHR45736;PANTHER:PTHR45736:SF5;SMART:SM00746",{"$nulls":8},"1.7e-05","6.442e-05","3.23e-05",0,0,0,0,0.0001776,"3.521e-05",0.0001776,"gnomAD_OTH",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",2,8,"0;1",null,"GAACTGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1342127;COSM4613008","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MAP7D1",55700,"BI","GRCh38","chr1",36177929,36177929,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1440del","p.Cys481AlafsTer94","p.C481Afs*94","ENST00000373151","2024-09-17",119,80,39,109,null,null,"MAP7D1,frameshift_variant,p.C444Afs*94,ENST00000316156,NM_001286365.2,c.1329del,HIGH,,,,1;MAP7D1,frameshift_variant,p.C481Afs*94,ENST00000373151,NM_018067.5,c.1440del,HIGH,YES,,,1;MAP7D1,frameshift_variant,p.C449Afs*94,ENST00000373150,NM_001286366.2,c.1344del,HIGH,,,,1;MAP7D1,frameshift_variant,p.C64Afs*95,ENST00000530975,,c.187del,HIGH,,,,1;MAP7D1,downstream_gene_variant,,ENST00000429533,,,MODIFIER,,,,1;MAP7D1,non_coding_transcript_exon_variant,,ENST00000373148,,n.167del,MODIFIER,,,,1;MAP7D1,non_coding_transcript_exon_variant,,ENST00000487131,,n.98del,MODIFIER,,,,1;MAP7D1,downstream_gene_variant,,ENST00000474796,,,MODIFIER,,,,1;MAP7D1,downstream_gene_variant,,ENST00000462118,,,MODIFIER,,,,1;MAP7D1,upstream_gene_variant,,ENST00000487114,,,MODIFIER,,,,1;MAP7D1,upstream_gene_variant,,ENST00000532131,,,MODIFIER,,,,1","-","ENSG00000116871","ENST00000373151","Transcript","frameshift_variant","frameshift_variant","1652/3324","1436/2526","479/841","S/X","tCc/tc",null,null,1,"MAP7D1","HGNC","HGNC:25514","protein_coding","YES","CCDS30673.1","ENSP00000362244","Q3KQU3.128",null,"UPI00005C3036","Q3KQU3-1","NM_018067.5",null,"P4",{"$nulls":3},"2024-09-17",null,"PANTHER:PTHR15073;PANTHER:PTHR15073:SF2;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"CTGCCTCCCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1342271;COSM5157611","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MACF1",23499,"BI","GRCh38","chr1",39461997,39461997,"+","Missense_Mutation","SNP","C","C","T","rs1306583613",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.21326C>T","p.Ala7109Val","p.A7109V","ENST00000372915","91/96",148,108,40,165,null,null,"MACF1,missense_variant,p.A7213V,ENST00000564288,,c.21638C>T,MODERATE,,deleterious(0),probably_damaging(1),1;MACF1,missense_variant,p.A7250V,ENST00000567887,,c.21749C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;MACF1,missense_variant,p.A7109V,ENST00000372915,,c.21326C>T,MODERATE,,,,1;MACF1,missense_variant,p.A5154V,ENST00000361689,NM_012090.5,c.15461C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;MACF1,missense_variant,p.A5103V,ENST00000671089,,c.15308C>T,MODERATE,,deleterious(0),probably_damaging(1),1;MACF1,missense_variant,p.A4158V,ENST00000372925,,c.12473C>T,MODERATE,,deleterious(0),probably_damaging(0.987),1;MACF1,missense_variant,p.A261V,ENST00000360115,,c.782C>T,MODERATE,,deleterious(0.03),probably_damaging(0.998),1;MACF1,missense_variant,p.A136V,ENST00000446276,,c.407C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.829),1;MACF1,missense_variant,p.A55V,ENST00000442046,,c.164C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.829),1;MACF1,upstream_gene_variant,,ENST00000422234,,,MODIFIER,,,,1;MACF1,non_coding_transcript_exon_variant,,ENST00000497964,,n.2822C>T,MODIFIER,,,,1;MACF1,upstream_gene_variant,,ENST00000462496,,,MODIFIER,,,,1;MACF1,non_coding_transcript_exon_variant,,ENST00000289893,,n.17098C>T,MODIFIER,,,,1","T","ENSG00000127603","ENST00000372915","Transcript","missense_variant","missense_variant","21413/23431","21326/22158","7109/7385","A/V","gCg/gTg","rs1306583613;COSV57123524",null,1,"MACF1","HGNC","HGNC:13664","protein_coding",null,null,"ENSP00000362006","Q9UPN3.196",null,null,"Q9UPN3-1",null,null,"A2",{"$nulls":3},"91/96",null,"PROSITE_profiles:PS50222;PANTHER:PTHR23169;PANTHER:PTHR23169:SF24",{"$nulls":8},"3.979e-06",0,0,0,0,"4.619e-05",0,0,0,"4.619e-05","gnomAD_FIN","6.7704800130741205e-06",0,0,0,0,0,0,0,"1.5435000022989698e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"GGATGCGTATC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4007814;COSM4007815;COSM4007816","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MFSD2A",84879,"BI","GRCh38","chr1",39967658,39967658,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1081C>T","p.Gln361Ter","p.Q361*","ENST00000372809","2024-10-14",141,125,16,130,null,null,"MFSD2A,stop_gained,p.Q361*,ENST00000372809,NM_001136493.3,c.1081C>T,HIGH,YES,,,1;MFSD2A,stop_gained,p.Q348*,ENST00000372811,NM_032793.5&NM_001349822.2&NM_001287809.2&NM_001349821.2,c.1042C>T,HIGH,,,,1;MFSD2A,stop_gained,p.Q192*,ENST00000420632,NM_001287808.1&NM_001349823.2,c.574C>T,HIGH,,,,1;MFSD2A,downstream_gene_variant,,ENST00000434861,,,MODIFIER,,,,1;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,,n.1483C>T,MODIFIER,,,,1;MFSD2A,non_coding_transcript_exon_variant,,ENST00000481612,,n.40C>T,MODIFIER,,,,1;MFSD2A,non_coding_transcript_exon_variant,,ENST00000491515,,n.267C>T,MODIFIER,,,,1;MFSD2A,non_coding_transcript_exon_variant,,ENST00000459917,,n.176C>T,MODIFIER,,,,1;MFSD2A,intron_variant,,ENST00000483824,,n.1146+489C>T,MODIFIER,,,,1;MFSD2A,downstream_gene_variant,,ENST00000469745,,,MODIFIER,,,,1;AL663070.1,downstream_gene_variant,,ENST00000438210,,,MODIFIER,YES,,,1","T","ENSG00000168389","ENST00000372809","Transcript","stop_gained","stop_gained","1224/2173","1081/1632","361/543","Q/*","Cag/Tag","COSV65685864",null,1,"MFSD2A","HGNC","HGNC:25897","protein_coding","YES","CCDS44118.1","ENSP00000361895","Q8NA29.137",null,"UPI0000072562","Q8NA29-1","NM_001136493.3",{"$nulls":5},"2024-10-14",null,"Transmembrane_helices:TMhelix;CDD:cd17451;PANTHER:PTHR11328:SF29;PANTHER:PTHR11328;Pfam:PF13347;Superfamily:SSF103473",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",2,null,1,1,"TCTGGCAGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4007884","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SZT2",23334,"BI","GRCh38","chr1",43419881,43419881,"+","Missense_Mutation","SNP","C","C","T","rs767336909",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1027C>T","p.Arg343Trp","p.R343W","ENST00000634258","8/72",155,113,42,155,null,null,"SZT2,missense_variant,p.R343W,ENST00000634258,NM_001365999.1,c.1027C>T,MODERATE,YES,deleterious(0),probably_damaging(0.95),1;SZT2,missense_variant,p.R343W,ENST00000562955,NM_015284.4,c.1027C>T,MODERATE,,deleterious(0),probably_damaging(0.95),1;SZT2,missense_variant,p.R226W,ENST00000639852,,c.676C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;SZT2,upstream_gene_variant,,ENST00000470139,,,MODIFIER,,,,1","T","ENSG00000198198","ENST00000634258","Transcript","missense_variant","missense_variant","1097/14136","1027/10299","343/3432","R/W","Cgg/Tgg","rs767336909;COSV65170871",null,1,"SZT2","HGNC","HGNC:29040","protein_coding","YES",null,"ENSP00000489255","Q5T011.129",null,"UPI0001E24F45","Q5T011-1","NM_001365999.1","NM_001365999.1","P4",null,"deleterious(0)","probably_damaging(0.95)","8/72",null,"PANTHER:PTHR14918",{"$nulls":8},"6.102e-05",0,0.0003206,0,0,0,"2.833e-05",0,0,0.0003206,"gnomAD_AMR","3.3798398362705484e-05",0,0,0.000132537999888882,0,0,0,0,"3.086229844484478e-05",0.000496032007504254,0,0.000132537999888882,"amr","uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"1;1",1,"ACCACCGGGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4008181","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SZT2",23334,"BI","GRCh38","chr1",43429705,43429705,"+","Missense_Mutation","SNP","T","T","C","rs1456220865",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4169T>C","p.Ile1390Thr","p.I1390T","ENST00000634258","29/72",113,81,32,112,null,null,"SZT2,missense_variant,p.I1390T,ENST00000634258,NM_001365999.1,c.4169T>C,MODERATE,YES,tolerated(0.47),benign(0.236),1;SZT2,missense_variant,p.I1333T,ENST00000562955,NM_015284.4,c.3998T>C,MODERATE,,tolerated(0.59),benign(0.116),1;SZT2,upstream_gene_variant,,ENST00000649403,,,MODIFIER,,,,1;SZT2,downstream_gene_variant,,ENST00000470139,,,MODIFIER,,,,1;SZT2,upstream_gene_variant,,ENST00000478140,,,MODIFIER,,,,1;SZT2,upstream_gene_variant,,ENST00000638642,,,MODIFIER,,,,1;SZT2,upstream_gene_variant,,ENST00000638769,,,MODIFIER,,,,1;SZT2,upstream_gene_variant,,ENST00000648058,,,MODIFIER,,,,1","C","ENSG00000198198","ENST00000634258","Transcript","missense_variant","missense_variant;splice_region_variant","4239/14136","4169/10299","1390/3432","I/T","aTa/aCa","rs1456220865;COSV65170874",null,1,"SZT2","HGNC","HGNC:29040","protein_coding","YES",null,"ENSP00000489255","Q5T011.129",null,"UPI0001E24F45","Q5T011-1","NM_001365999.1","NM_001365999.1","P4",null,"tolerated(0.47)","benign(0.236)","29/72",null,"PANTHER:PTHR14918",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"CAGCATAGAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4008188;COSM4008189;COSM4008190","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC24",149473,"BI","GRCh38","chr1",43995790,43995792,"+","In_Frame_Del","DEL","AGA","AGA","-","rs764735746",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.640_642del","p.Lys214del","p.K214del","ENST00000372318","2024-08-09",119,88,31,98,null,null,"CCDC24,inframe_deletion,p.K214del,ENST00000372318,NM_001349127.1&NM_152499.4&NM_001349128.1&NM_001349129.1,c.640_642del,MODERATE,YES,,,1;CCDC24,inframe_deletion,p.K144del,ENST00000466180,,c.430_432del,MODERATE,,,,1;SLC6A9,intron_variant,,ENST00000372306,,c.1625-3800_1625-3798del,MODIFIER,,,,-1;SLC6A9,intron_variant,,ENST00000372307,,c.1342-3800_1342-3798del,MODIFIER,,,,-1;B4GALT2,downstream_gene_variant,,ENST00000309519,NM_030587.2,,MODIFIER,YES,,,1;B4GALT2,downstream_gene_variant,,ENST00000356836,NM_001005417.2,,MODIFIER,,,,1;SLC6A9,downstream_gene_variant,,ENST00000357730,NM_001328627.1&NM_001261380.2&NM_006934.4,,MODIFIER,,,,-1;SLC6A9,downstream_gene_variant,,ENST00000360584,NM_201649.4,,MODIFIER,YES,,,-1;SLC6A9,downstream_gene_variant,,ENST00000372310,NM_001024845.3,,MODIFIER,,,,-1;B4GALT2,downstream_gene_variant,,ENST00000372324,NM_003780.4,,MODIFIER,,,,1;B4GALT2,downstream_gene_variant,,ENST00000434555,,,MODIFIER,,,,1;SLC6A9,downstream_gene_variant,,ENST00000475075,NM_001328630.2&NM_001328626.2&NM_001328628.1,,MODIFIER,,,,-1;SLC6A9,downstream_gene_variant,,ENST00000673836,NM_001328629.1,,MODIFIER,,,,-1;CCDC24,non_coding_transcript_exon_variant,,ENST00000479055,,n.551_553del,MODIFIER,,,,1;CCDC24,non_coding_transcript_exon_variant,,ENST00000472562,,n.296_298del,MODIFIER,,,,1;CCDC24,3_prime_UTR_variant,,ENST00000486064,,c.*1548_*1550del,MODIFIER,,,,1;CCDC24,3_prime_UTR_variant,,ENST00000463846,,c.*271_*273del,MODIFIER,,,,1;CCDC24,3_prime_UTR_variant,,ENST00000486504,,c.*164_*166del,MODIFIER,,,,1;CCDC24,3_prime_UTR_variant,,ENST00000490064,,c.*164_*166del,MODIFIER,,,,1;CCDC24,non_coding_transcript_exon_variant,,ENST00000490563,,n.1007_1009del,MODIFIER,,,,1;CCDC24,non_coding_transcript_exon_variant,,ENST00000485811,,n.921_923del,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000460543,,,MODIFIER,,,,1;B4GALT2,downstream_gene_variant,,ENST00000485678,,,MODIFIER,,,,1;B4GALT2,downstream_gene_variant,,ENST00000497866,,,MODIFIER,,,,1","-","ENSG00000159214","ENST00000372318","Transcript","inframe_deletion","inframe_deletion","815-817/1472","635-637/924","212-213/307","QK/Q","cAGAag/cag","rs764735746",null,1,"CCDC24","HGNC","HGNC:28688","protein_coding","YES","CCDS507.1","ENSP00000361392","Q8N4L8.111",null,"UPI000006EE2D","Q8N4L8-1","NM_001349127.1;NM_152499.4;NM_001349128.1;NM_001349129.1","NM_152499.4","P1",{"$nulls":3},"2024-08-09",null,"PANTHER:PTHR28601;Coiled-coils_(Ncoils):Coil",{"$nulls":8},"3.978e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS","2.0274399503250606e-05",0,0,0,0,0.000201693997951224,0,0.00328946998342871,"1.543019970995374e-05",0,0,{"$nulls":11},"MODERATE",1,"deletion",1,5,null,null,"AGGAACAGAAGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["NRDC",4898,"BI","GRCh38","chr1",51792096,51792096,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3030G>A","p.Met1010Ile","p.M1010I","ENST00000354831","28/33",55,41,14,74,null,null,"NRDC,missense_variant,p.M1010I,ENST00000354831,NM_002525.2,c.3030G>A,MODERATE,YES,tolerated(0.05),benign(0.194),-1;NRDC,missense_variant,p.A943T,ENST00000544028,,c.2827G>A,MODERATE,,,unknown(0),-1;NRDC,missense_variant,p.M942I,ENST00000352171,NM_001101662.2,c.2826G>A,MODERATE,,deleterious(0.04),benign(0.048),-1;NRDC,missense_variant,p.M878I,ENST00000539524,NM_001242361.1,c.2634G>A,MODERATE,,tolerated(0.08),benign(0.194),-1;NRDC,missense_variant,p.M357I,ENST00000440943,,c.1071G>A,MODERATE,,tolerated(0.05),benign(0.16),-1;OSBPL9,intron_variant,,ENST00000625138,,c.*4307C>T,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000361556,NM_001350208.2&NM_001350209.2&NM_148907.3,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000371714,NM_148908.4,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000428468,NM_024586.6,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000447887,NM_148909.4,,MODIFIER,YES,,,1;OSBPL9,downstream_gene_variant,,ENST00000453295,NM_148906.3,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000462759,NM_001350210.2&NM_148904.4,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000486942,NM_148905.4,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000531828,NM_001330580.2,,MODIFIER,,,,1;NRDC,splice_region_variant,,ENST00000485608,,n.2495G>A,LOW,,,,-1;NRDC,upstream_gene_variant,,ENST00000464385,,,MODIFIER,,,,-1;NRDC,downstream_gene_variant,,ENST00000475310,,,MODIFIER,,,,-1;NRDC,downstream_gene_variant,,ENST00000497358,,,MODIFIER,,,,-1;OSBPL9,downstream_gene_variant,,ENST00000435274,,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000475697,,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000495776,,,MODIFIER,,,,1;OSBPL9,downstream_gene_variant,,ENST00000531819,,,MODIFIER,,,,1;AL050343.2,upstream_gene_variant,,ENST00000586761,,,MODIFIER,YES,,,1;AL050343.2,upstream_gene_variant,,ENST00000588291,,,MODIFIER,,,,1;AL050343.2,upstream_gene_variant,,ENST00000591675,,,MODIFIER,,,,1;AL050343.2,upstream_gene_variant,,ENST00000629102,,,MODIFIER,,,,1","T","ENSG00000078618","ENST00000354831","Transcript","missense_variant","missense_variant;splice_region_variant","3220/3895","3030/3660","1010/1219","M/I","atG/atA","COSV61405507",null,-1,"NRDC","HGNC","HGNC:7995","protein_coding","YES","CCDS559.1","ENSP00000346890","O43847.173",null,"UPI0000458A53","O43847-2","NM_002525.2",null,"P3",null,"tolerated(0.05)","benign(0.194)","28/33",null,"Superfamily:SSF63411;Gene3D:3.30.830.10;Pfam:PF05193;PANTHER:PTHR43690;PANTHER:PTHR43690:SF14",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGTGCATCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4008749","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CC2D1B",200014,"BI","GRCh38","chr1",52362707,52362707,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.109C>A","p.Leu37Met","p.L37M","ENST00000371586","2024-03-24",174,166,8,188,null,null,"CC2D1B,missense_variant,p.L37M,ENST00000371586,NM_032449.2,c.109C>A,MODERATE,YES,tolerated(0.12),benign(0.241),-1;CC2D1B,missense_variant,p.L37M,ENST00000284376,NM_001330585.2,c.109C>A,MODERATE,,tolerated(0.12),benign(0.421),-1;CC2D1B,upstream_gene_variant,,ENST00000438021,,,MODIFIER,,,,-1;CC2D1B,upstream_gene_variant,,ENST00000450942,,,MODIFIER,,,,-1;CC2D1B,upstream_gene_variant,,ENST00000460261,,,MODIFIER,,,,-1;CC2D1B,non_coding_transcript_exon_variant,,ENST00000491136,,n.211C>A,MODIFIER,,,,-1;AL513218.2,upstream_gene_variant,,ENST00000661897,,,MODIFIER,YES,,,1","T","ENSG00000154222","ENST00000371586","Transcript","missense_variant","missense_variant","248/5642","109/2577","37/858","L/M","Ctg/Atg","COSV99429964",null,-1,"CC2D1B","HGNC","HGNC:29386","protein_coding","YES","CCDS30714.1","ENSP00000360642","Q5T0F9.121",null,"UPI00001609B7","Q5T0F9-1","NM_032449.2",null,"A2",null,"tolerated(0.12)","benign(0.241)","2024-03-24",null,"PANTHER:PTHR13076;PANTHER:PTHR13076:SF5;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"GCCCAGCAGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["BSND",7809,"BI","GRCh38","chr1",55007217,55007217,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.493C>A","p.His165Asn","p.H165N","ENST00000651561","2024-03-04",92,72,20,115,null,null,"BSND,missense_variant,p.H165N,ENST00000651561,NM_057176.3,c.493C>A,MODERATE,YES,deleterious(0),benign(0.165),1","A","ENSG00000162399","ENST00000651561","Transcript","missense_variant","missense_variant","747/9761","493/963","165/320","H/N","Cac/Aac","COSV64870808",null,1,"BSND","HGNC","HGNC:16512","protein_coding","YES","CCDS602.1","ENSP00000498282","Q8WZ55.137","Q5VU50.119","UPI000006DC8D",null,"NM_057176.3","NM_057176.3","P1",null,"deleterious(0)","benign(0.165)","2024-03-04",null,"Pfam:PF15462;PANTHER:PTHR28399",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,1,"TCATCCACAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4009013","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CACHD1",57685,"BI","GRCh38","chr1",64641910,64641910,"+","Missense_Mutation","SNP","A","A","G","rs762523710",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1097A>G","p.Asn366Ser","p.N366S","ENST00000651257","2024-08-27",84,52,32,73,null,null,"CACHD1,missense_variant,p.N366S,ENST00000651257,NM_020925.4,c.1097A>G,MODERATE,YES,tolerated(0.56),benign(0),1;CACHD1,missense_variant,p.N232S,ENST00000650260,NM_001293274.1,c.695A>G,MODERATE,,tolerated(0.55),benign(0),1;CACHD1,missense_variant,p.N315S,ENST00000290039,,c.944A>G,MODERATE,,tolerated(0.84),benign(0),1;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,,n.1327A>G,MODIFIER,,,,1;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,,n.1035A>G,MODIFIER,,,,1","G","ENSG00000158966","ENST00000651257","Transcript","missense_variant","missense_variant","1713/5933","1097/3825","366/1274","N/S","aAt/aGt","rs762523710;COSV51554943",null,1,"CACHD1","HGNC","HGNC:29314","protein_coding","YES",null,"ENSP00000498498","Q5VU97.124",null,"UPI00015B3BA1","Q5VU97-1","NM_020925.4","NM_020925.4","A2",null,"tolerated(0.56)","benign(0)","2024-08-27",null,"PROSITE_profiles:PS50234;PANTHER:PTHR10166;PANTHER:PTHR10166:SF40;Gene3D:3.40.50.410;Pfam:PF00092;Superfamily:SSF53300",{"$nulls":8},"9.029e-05",0,0,0,0.00102,0,"2.687e-05",0,"3.463e-05",0.00102,"gnomAD_EAS","1.3514600141206756e-05","2.430720087431837e-05",0,"6.625150126637891e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"CATCAATGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2238952","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRRC7",57554,"BI","GRCh38","chr1",70036167,70036167,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2042A>G","p.His681Arg","p.H681R","ENST00000651989","19/27",102,95,6,85,null,null,"LRRC7,missense_variant,p.H681R,ENST00000651989,NM_001370785.2&NM_001366838.3&NM_001350216.2,c.2042A>G,MODERATE,YES,tolerated(1),benign(0.035),1;LRRC7,missense_variant,p.H648R,ENST00000310961,NM_001330635.3&NM_001366839.3&NM_001366841.1,c.1943A>G,MODERATE,,tolerated(1),probably_damaging(0.983),1;LRRC7,intron_variant,,ENST00000415775,,c.27-1946A>G,MODIFIER,,,,1;LRRC7,non_coding_transcript_exon_variant,,ENST00000651217,,n.1958A>G,MODIFIER,,,,1;LRRC7-AS1,upstream_gene_variant,,ENST00000414132,,,MODIFIER,,,,-1","G","ENSG00000033122","ENST00000651989","Transcript","missense_variant","missense_variant","2760/27923","2042/4728","681/1575","H/R","cAc/cGc","COSV50432358",null,1,"LRRC7","HGNC","HGNC:18531","protein_coding","YES",null,"ENSP00000498937",null,"A0A494C1A4.7","UPI000387AE46",null,"NM_001370785.2;NM_001366838.3;NM_001350216.2","NM_001370785.2","A2",null,"tolerated(1)","benign(0.035)","19/27",null,"PANTHER:PTHR23119;PANTHER:PTHR23119:SF48",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"ACTTCACCCTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4009717","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZRANB2",9406,"BI","GRCh38","chr1",71069291,71069291,"+","Missense_Mutation","SNP","C","C","T","rs144217678",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.755G>A","p.Arg252His","p.R252H","ENST00000370920","2024-08-10",73,51,22,101,null,null,"ZRANB2,missense_variant,p.R252H,ENST00000254821,NM_005455.5,c.755G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.482),-1;ZRANB2,missense_variant,p.R252H,ENST00000370920,NM_203350.3,c.755G>A,MODERATE,YES,deleterious(0.01),benign(0.046),-1;ZRANB2,missense_variant,p.R252H,ENST00000611683,,c.755G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.482),-1;MIR186,upstream_gene_variant,,ENST00000384988,,,MODIFIER,YES,,,-1;ZRANB2,non_coding_transcript_exon_variant,,ENST00000487510,,n.310G>A,MODIFIER,,,,-1;ZRANB2,upstream_gene_variant,,ENST00000473260,,,MODIFIER,,,,-1;ZRANB2,upstream_gene_variant,,ENST00000477096,,,MODIFIER,,,,-1;ZRANB2,upstream_gene_variant,,ENST00000479947,,,MODIFIER,,,,-1;ZRANB2-AS1,downstream_gene_variant,,ENST00000426999,,,MODIFIER,YES,,,1;ZRANB2-AS1,downstream_gene_variant,,ENST00000450461,,,MODIFIER,,,,1","T","ENSG00000132485","ENST00000370920","Transcript","missense_variant","missense_variant","795/2816","755/993","252/330","R/H","cGt/cAt","rs144217678",null,-1,"ZRANB2","HGNC","HGNC:13058","protein_coding","YES","CCDS659.1","ENSP00000359958","O95218.184",null,"UPI000013CE63","O95218-1","NM_203350.3","NM_203350.3","A2",null,"deleterious(0.01)","benign(0.046)","2024-08-10",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR12999;PIRSF:PIRSF037956",{"$nulls":6},0.000227,0,"1.202e-05","6.201e-05",0,0,0,0,"8.838e-06",0,"3.286e-05",0.000227,"AA","1.3533999663195573e-05","2.4339200535905547e-05",0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":11},"MODERATE",1,"SNV",1,{"$nulls":3},"ACCCACGAGAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4009808;COSM4009809","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAI3",126820,"BI","GRCh38","chr1",85085960,85085960,"+","Missense_Mutation","SNP","A","A","G","rs1236694670",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.670A>G","p.Lys224Glu","p.K224E","ENST00000294664","2024-07-23",65,48,17,72,null,null,"DNAI3,missense_variant,p.K224E,ENST00000294664,NM_145172.5,c.670A>G,MODERATE,YES,deleterious(0),benign(0.035),1;DNAI3,missense_variant,p.K224E,ENST00000370596,,c.670A>G,MODERATE,,deleterious(0),benign(0.281),1;DNAI3,missense_variant,p.K224E,ENST00000326813,NM_001288563.1,c.670A>G,MODERATE,,deleterious(0),benign(0.281),1;DNAI3,downstream_gene_variant,,ENST00000528899,,,MODIFIER,,,,1;DNAI3,missense_variant,p.K224E,ENST00000464801,,c.670A>G,MODERATE,,deleterious(0),benign(0.407),1","G","ENSG00000162643","ENST00000294664","Transcript","missense_variant","missense_variant","844/2990","670/2676","224/891","K/E","Aaa/Gaa","rs1236694670;COSV54003498;COSV99641981",null,1,"DNAI3","HGNC","HGNC:30711","protein_coding","YES","CCDS702.1","ENSP00000294664","Q8IWG1.150","A0A140VJZ8.20","UPI00000744F1","Q8IWG1-1","NM_145172.5","NM_145172.5","P4",null,"deleterious(0)","benign(0.035)","2024-07-23",null,"PANTHER:PTHR12442:SF5;PANTHER:PTHR12442",{"$nulls":19},"6.757759820175124e-06","2.4308399588335305e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"CCCTTAAACAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4010274","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CLCA1",1179,"BI","GRCh38","chr1",86473847,86473848,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.428dup","p.Leu144ValfsTer3","p.L144Vfs*3","ENST00000234701","2024-04-15",83,62,21,84,null,null,"CLCA1,frameshift_variant,p.L144Vfs*3,ENST00000234701,,c.428dup,HIGH,YES,,,1;CLCA1,frameshift_variant,p.L144Vfs*3,ENST00000394711,NM_001285.4,c.428dup,HIGH,,,,1","A","ENSG00000016490","ENST00000234701","Transcript","frameshift_variant","frameshift_variant","773-774/3310","422-423/2745","141/914","G/GX","gga/ggAa",null,null,1,"CLCA1","HGNC","HGNC:2015","protein_coding","YES","CCDS709.1","ENSP00000234701","A8K7I4.105",null,"UPI00001AE689",{"$nulls":3},"P1",{"$nulls":3},"2024-04-15",null,"TIGRFAM:TIGR00868;Pfam:PF08434;PANTHER:PTHR10579:SF2;PANTHER:PTHR10579",{"$nulls":41},"HIGH",1,"insertion",1,6,null,null,"TGCAGGAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["HS2ST1",9653,"BI","GRCh38","chr1",87073140,87073140,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.335del","p.Asn112IlefsTer4","p.N112Ifs*4","ENST00000370550","2024-02-07",112,101,11,90,null,null,"HS2ST1,frameshift_variant,p.N112Ifs*4,ENST00000370550,NM_012262.4,c.335del,HIGH,YES,,,1;AC093155.3,frameshift_variant,p.N86Ifs*4,ENST00000370548,,c.257del,HIGH,YES,,,1;HS2ST1,frameshift_variant,p.N112Ifs*4,ENST00000370551,NM_001134492.2,c.335del,HIGH,,,,1;HS2ST1,frameshift_variant,p.N54Ifs*4,ENST00000591456,,c.161del,HIGH,,,,1","-","ENSG00000153936","ENST00000370550","Transcript","frameshift_variant","frameshift_variant","733/6759","331/1071","111/356","K/X","Aaa/aa",null,null,1,"HS2ST1","HGNC","HGNC:5193","protein_coding","YES","CCDS711.1","ENSP00000359581","Q7LGA3.141",null,"UPI0000073F43","Q7LGA3-1","NM_012262.4","NM_012262.4","P1",{"$nulls":3},"2024-02-07",null,"PANTHER:PTHR12129;PANTHER:PTHR12129:SF14;Gene3D:3.40.50.300;Pfam:PF03567;Superfamily:SSF52540",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"ACTACCAAAAAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["LRRC8B",23507,"BI","GRCh38","chr1",89592830,89592831,"+","Frame_Shift_Ins","INS","-","-","A","rs766512703",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2204dup","p.Asn735LysfsTer2","p.N735Kfs*2","ENST00000330947","2024-06-06",135,105,30,126,null,null,"LRRC8B,frameshift_variant,p.N735Kfs*2,ENST00000640258,NM_015350.4&NM_001134476.2,c.2204dup,HIGH,YES,,,1;LRRC8B,frameshift_variant,p.N735Kfs*2,ENST00000639264,,c.2204dup,HIGH,,,,1;LRRC8B,frameshift_variant,p.N735Kfs*2,ENST00000330947,NM_001369819.2&NM_001369817.2,c.2204dup,HIGH,,,,1;LRRC8B,3_prime_UTR_variant,,ENST00000439853,,c.*64dup,MODIFIER,,,,1;LRRC8C-DT,intron_variant,,ENST00000443562,,n.403+2330dup,MODIFIER,,,,-1;LRRC8C-DT,intron_variant,,ENST00000655657,,n.394-4746dup,MODIFIER,,,,-1;LRRC8C-DT,intron_variant,,ENST00000666228,,n.219-4746dup,MODIFIER,,,,-1;LRRC8C-DT,upstream_gene_variant,,ENST00000660444,,,MODIFIER,,,,-1","A","ENSG00000197147","ENST00000330947","Transcript","frameshift_variant","frameshift_variant","2633-2634/7664","2199-2200/2412","733-734/803","-/X","-/A","rs766512703",null,1,"LRRC8B","HGNC","HGNC:30692","protein_coding",null,"CCDS724.1","ENSP00000332674","Q6P9F7.148","A0A384N5V6.9","UPI00000739FF",null,"NM_001369819.2;NM_001369817.2","NM_001369817.2","P1",{"$nulls":3},"2024-06-06",null,"PROSITE_profiles:PS51450;PANTHER:PTHR45752;PANTHER:PTHR45752:SF40;Gene3D:3.80.10.10;Superfamily:SSF52047",{"$nulls":8},"3.981e-06",0,0,"9.927e-05",0,0,0,0,0,"9.927e-05","gnomAD_ASJ",{"$nulls":22},"HIGH",null,"insertion",5,5,null,null,"TTGGGGAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CCDC18",343099,"BI","GRCh38","chr1",93201959,93201959,"+","Frame_Shift_Del","DEL","A","A","-","rs746565576",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.774del","p.Val259TrpfsTer15","p.V259Wfs*15","ENST00000343253","2024-07-29",48,36,12,38,null,null,"CCDC18,frameshift_variant,p.V259Wfs*15,ENST00000343253,NM_001306076.1&NM_001378204.1,c.774del,HIGH,,,,1;CCDC18,frameshift_variant,p.V313Wfs*15,ENST00000370276,,c.935del,HIGH,YES,,,1;CCDC18,frameshift_variant,p.V259Wfs*15,ENST00000401026,NM_206886.4,c.774del,HIGH,,,,1;CCDC18,upstream_gene_variant,,ENST00000455267,,,MODIFIER,,,,1;CCDC18,frameshift_variant,p.V298Wfs*15,ENST00000481180,,c.890del,HIGH,,,,1;AC126124.1,upstream_gene_variant,,ENST00000426104,,,MODIFIER,YES,,,-1","-","ENSG00000122483","ENST00000343253","Transcript","frameshift_variant","frameshift_variant","1268/4867","766/4365","256/1454","K/X","Aaa/aa","rs746565576;COSV58142470",null,1,"CCDC18","HGNC","HGNC:30370","protein_coding",null,"CCDS76180.1","ENSP00000343377","Q5T9S5.111",null,"UPI0000470B9C","Q5T9S5-1","NM_001306076.1;NM_001378204.1",null,"P4",{"$nulls":3},"2024-07-29",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18875;PANTHER:PTHR18875:SF8",{"$nulls":8},0.0004993,0.000454,0.0009677,0.0006967,0.0005526,"9.695e-05",3.189E-4,0.0004008,0.0009924,0.0009924,"gnomAD_SAS","1.3634899914904963e-05","4.9005200708052143e-05",0,0,0,0,0,0,0,0,0,"4.9005200708052143e-05","afr",null,"0;1",{"$nulls":7},"HIGH",null,"deletion",5,8,"0;1",null,"CAATATAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM252971","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SLC44A3",126969,"BI","GRCh38","chr1",94892376,94892376,"+","Frame_Shift_Del","DEL","T","T","-","rs752543591",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1722del","p.Phe574LeufsTer4","p.F574Lfs*4","ENST00000271227","14/15",227,165,62,199,null,null,"SLC44A3,frameshift_variant,p.F574Lfs*4,ENST00000271227,NM_001114106.3&NM_001258340.2,c.1722del,HIGH,YES,,,1;SLC44A3,frameshift_variant,p.F538Lfs*4,ENST00000446120,NM_001258342.2,c.1614del,HIGH,,,,1;SLC44A3,frameshift_variant,p.F526Lfs*4,ENST00000467909,NM_152369.5&NM_001350223.1,c.1578del,HIGH,,,,1;SLC44A3,frameshift_variant,p.F541Lfs*4,ENST00000529450,NM_001258341.2,c.1623del,HIGH,,,,1;SLC44A3,frameshift_variant,p.F506Lfs*4,ENST00000527077,NM_001258343.2,c.1518del,HIGH,,,,1;SLC44A3,frameshift_variant,p.F494Lfs*4,ENST00000532427,NM_001301079.2,c.1482del,HIGH,,,,1;SLC44A3,intron_variant,,ENST00000532670,,c.225+1115del,MODIFIER,,,,1;CNN3,downstream_gene_variant,,ENST00000370206,NM_001839.5,,MODIFIER,YES,,,-1;CNN3,downstream_gene_variant,,ENST00000394202,NM_001286055.1,,MODIFIER,,,,-1;CNN3,downstream_gene_variant,,ENST00000545882,NM_001286056.1,,MODIFIER,,,,-1;SLC44A3,downstream_gene_variant,,ENST00000530397,,,MODIFIER,,,,1;SLC44A3,3_prime_UTR_variant,,ENST00000475883,,c.*1445del,MODIFIER,,,,1","-","ENSG00000143036","ENST00000271227","Transcript","frameshift_variant","frameshift_variant","1811/2381","1716/1962","572/653","A/X","gcT/gc","rs752543591;COSV54732637",null,1,"SLC44A3","HGNC","HGNC:28689","protein_coding","YES","CCDS44176.1","ENSP00000271227","Q8N4M1.135",null,"UPI0000206066","Q8N4M1-1","NM_001114106.3;NM_001258340.2","NM_001114106.3","P4",{"$nulls":3},"14/15",null,"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR12385:SF13;PANTHER:PTHR12385;Pfam:PF04515",{"$nulls":8},"1.989e-05",0.0001846,"2.891e-05",0,0,0,"8.797e-06",0,0,0.0001846,"gnomAD_AFR","4.059269849676639e-05",1.45978003274649E-4,0,0,0,0,0,0,0,0,0,1.45978003274649E-4,"afr",null,"0;1",{"$nulls":7},"HIGH",1,"deletion",1,6,"0;1",null,"GGTAGCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM293683;COSM293684","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CHIA",27159,"BI","GRCh38","chr1",111319397,111319397,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1106G>A","p.Gly369Asp","p.G369D","ENST00000343320","2024-10-11",73,50,23,87,null,null,"CHIA,missense_variant,p.G369D,ENST00000369740,NM_201653.4,c.1106G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.984),1;CHIA,missense_variant,p.G369D,ENST00000343320,,c.1106G>A,MODERATE,,deleterious(0.03),probably_damaging(0.984),1;CHIA,missense_variant,p.G313D,ENST00000422815,,c.938G>A,MODERATE,,deleterious(0.03),probably_damaging(0.984),1;CHIA,missense_variant,p.G261D,ENST00000430615,NM_001258001.2&NM_001258003.2&NM_021797.4,c.782G>A,MODERATE,,deleterious(0.03),probably_damaging(0.984),1;CHIA,missense_variant,p.G208D,ENST00000451398,NM_001040623.3,c.623G>A,MODERATE,,deleterious(0.04),probably_damaging(0.984),1;CHIA,missense_variant,p.G208D,ENST00000353665,NM_001258004.2&NM_001258005.2,c.623G>A,MODERATE,,deleterious(0.04),probably_damaging(0.984),1;CHIA,missense_variant,p.G208D,ENST00000483391,NM_001258002.2,c.623G>A,MODERATE,,deleterious(0.04),probably_damaging(0.984),1;CHIA,missense_variant,p.G208D,ENST00000489524,,c.623G>A,MODERATE,,deleterious(0.04),probably_damaging(0.984),1;CHIA,3_prime_UTR_variant,,ENST00000352594,,c.*615G>A,MODIFIER,,,,1;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,,n.3829G>A,MODIFIER,,,,1;AL356387.2,upstream_gene_variant,,ENST00000422272,,,MODIFIER,YES,,,1;AL356387.1,intron_variant,,ENST00000426321,,n.149-1470C>T,MODIFIER,YES,,,-1","A","ENSG00000134216","ENST00000343320","Transcript","missense_variant","missense_variant","1200/1624","1106/1431","369/476","G/D","gGc/gAc","COSV58476003",null,1,"CHIA","HGNC","HGNC:17432","protein_coding",null,"CCDS41368.1","ENSP00000341828","Q9BZP6.174",null,"UPI00000727DC","Q9BZP6-1",null,null,"P1",null,"deleterious(0.03)","probably_damaging(0.984)","2024-10-11",null,"PDB-ENSP_mappings:2ybt.A;PDB-ENSP_mappings:2ybt.B;PDB-ENSP_mappings:2ybt.C;PDB-ENSP_mappings:2ybt.D;PDB-ENSP_mappings:2ybt.E;PDB-ENSP_mappings:2ybt.F;PDB-ENSP_mappings:2ybu.A;PDB-ENSP_mappings:2ybu.B;PDB-ENSP_mappings:2ybu.C;PDB-ENSP_mappings:2ybu.D;PDB-ENSP_mappings:2ybu.E;PDB-ENSP_mappings:2ybu.F;PDB-ENSP_mappings:3fxy.A;PDB-ENSP_mappings:3fxy.B;PDB-ENSP_mappings:3fxy.C;PDB-ENSP_mappings:3fxy.D;PDB-ENSP_mappings:3fy1.A;PDB-ENSP_mappings:3fy1.B;PDB-ENSP_mappings:3rm4.A;PDB-ENSP_mappings:3rm4.B;PDB-ENSP_mappings:3rm8.A;PDB-ENSP_mappings:3rm8.B;PDB-ENSP_mappings:3rm9.A;PDB-ENSP_mappings:3rm9.B;PDB-ENSP_mappings:3rme.A;PDB-ENSP_mappings:3rme.B;CDD:cd02872;PANTHER:PTHR11177:SF188;PANTHER:PTHR11177;Gene3D:3.20.20.80;Superfamily:SSF51445",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"CACTGGCACTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1162831;COSM1162832","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VANGL1",81839,"BI","GRCh38","chr1",115683959,115683959,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.962C>T","p.Ala321Val","p.A321V","ENST00000310260","2024-06-08",88,55,32,89,null,null,"VANGL1,missense_variant,p.A321V,ENST00000355485,NM_138959.3,c.962C>T,MODERATE,YES,tolerated(0.35),benign(0.239),1;VANGL1,missense_variant,p.A319V,ENST00000369510,NM_001172411.2,c.956C>T,MODERATE,,tolerated(0.4),benign(0.154),1;VANGL1,missense_variant,p.A321V,ENST00000310260,NM_001172412.1,c.962C>T,MODERATE,,tolerated(0.35),benign(0.239),1;VANGL1,missense_variant,p.A321V,ENST00000369509,,c.962C>T,MODERATE,,tolerated(0.35),benign(0.239),1;VANGL1,non_coding_transcript_exon_variant,,ENST00000474344,,n.344C>T,MODIFIER,,,,1;VANGL1,non_coding_transcript_exon_variant,,ENST00000478369,,n.246C>T,MODIFIER,,,,1","T","ENSG00000173218","ENST00000310260","Transcript","missense_variant","missense_variant","1177/2265","962/1575","321/524","A/V","gCc/gTc","COSV59620896",null,1,"VANGL1","HGNC","HGNC:15512","protein_coding",null,"CCDS883.1","ENSP00000310800","Q8TAA9.146","A0A024R0E3.37","UPI0000070B72","Q8TAA9-1","NM_001172412.1",null,"P4",null,"tolerated(0.35)","benign(0.239)","2024-06-08",null,"PANTHER:PTHR20886:SF8;PANTHER:PTHR20886;PIRSF:PIRSF007991;Pfam:PF06638",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CAATGCCACTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4021003","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADAM30",11085,"BI","GRCh38","chr1",119896103,119896103,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.234G>A","p.Trp78Ter","p.W78*","ENST00000369400","2024-01-01",89,60,28,68,null,null,"ADAM30,stop_gained,p.W78*,ENST00000369400,NM_021794.4,c.234G>A,HIGH,YES,,,-1","T","ENSG00000134249","ENST00000369400","Transcript","stop_gained","stop_gained","413/2983","234/2373","78/790","W/*","tgG/tgA","COSV65561369",null,-1,"ADAM30","HGNC","HGNC:208","protein_coding","YES","CCDS907.1","ENSP00000358407","Q9UKF2.172",null,"UPI000004C638","Q9UKF2-1","NM_021794.4","NM_021794.4","P1",{"$nulls":3},"2024-01-01",null,"Pfam:PF01562;PANTHER:PTHR11905;PANTHER:PTHR11905:SF148",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",null,null,1,null,"TTGGGCCACAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4021298","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PPIAL4A",653505,"BI","GRCh38","chr1",120889995,120889995,"+","Missense_Mutation","SNP","G","G","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.175G>T","p.Gly59Trp","p.G59W","ENST00000577856","2024-01-01",248,183,64,298,null,null,"PPIAL4A,missense_variant,p.G59W,ENST00000577856,NM_001143883.3,c.175G>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),1","T","ENSG00000263353","ENST00000577856","Transcript","missense_variant","missense_variant","250/660","175/495","59/164","G/W","Ggg/Tgg",null,null,1,"PPIAL4A","HGNC","HGNC:24369","protein_coding","YES","CCDS76197.1","ENSP00000485206","Q9Y536.158",null,"UPI000006E1D4",null,"NM_001143883.3","NM_001143883.3","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.999)","2024-01-01",null,"PROSITE_profiles:PS50072;PANTHER:PTHR11071:SF450;PANTHER:PTHR11071;PROSITE_patterns:PS00170;Gene3D:2.40.100.10;Pfam:PF00160;PIRSF:PIRSF001467;Superfamily:SSF50891;Prints:PR00153",{"$nulls":41},"MODERATE",1,"SNV",{"$nulls":4},"TTCCAGGGTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RBM8A",9939,"BI","GRCh38","chr1",145925886,145925886,"+","Missense_Mutation","SNP","C","C","T","rs868971393",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.521G>A","p.Arg174His","p.R174H","ENST00000583313","2024-06-06",62,50,12,84,null,null,"RBM8A,missense_variant,p.R174H,ENST00000583313,NM_005105.5,c.521G>A,MODERATE,YES,deleterious_low_confidence(0.01),benign(0),-1;RBM8A,missense_variant,p.R173H,ENST00000369307,,c.518G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),-1;RBM8A,missense_variant,p.R174H,ENST00000632555,,c.521G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),-1;AC243547.3,upstream_gene_variant,,ENST00000625258,,,MODIFIER,YES,,,1;GNRHR2,downstream_gene_variant,,ENST00000312753,,,MODIFIER,YES,,,1;GNRHR2,downstream_gene_variant,,ENST00000361928,,,MODIFIER,,,,1;GNRHR2,downstream_gene_variant,,ENST00000619161,,,MODIFIER,,,,1;AC243547.3,upstream_gene_variant,,ENST00000630636,,,MODIFIER,,,,1;RBM8A,missense_variant,p.R106H,ENST00000632040,,c.317G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),-1;RBM8A,missense_variant,p.R106H,ENST00000633781,,c.317G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0),-1;RBM8A,non_coding_transcript_exon_variant,,ENST00000634130,,n.439G>A,MODIFIER,,,,-1;RBM8A,downstream_gene_variant,,ENST00000484825,,,MODIFIER,,,,-1;RBM8A,downstream_gene_variant,,ENST00000498663,,,MODIFIER,,,,-1;RBM8A,downstream_gene_variant,,ENST00000634161,,,MODIFIER,,,,-1;GNRHR2,downstream_gene_variant,,ENST00000581100,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000412239,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000421764,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000437797,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000447686,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000448561,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000595494,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000595518,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000596355,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000597144,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000598103,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000598354,,,MODIFIER,YES,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000599147,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000599469,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000599626,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000600340,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000601726,,,MODIFIER,,,,1;LIX1L-AS1,upstream_gene_variant,,ENST00000630257,,,MODIFIER,,,,1","T","ENSG00000265241","ENST00000583313","Transcript","missense_variant","missense_variant","579/4909","521/525","174/174","R/H","cGc/cAc","rs868971393;COSV57162396",null,-1,"RBM8A","HGNC","HGNC:9905","protein_coding","YES","CCDS72872.1","ENSP00000463058","Q9Y5S9.223","A0A023T787.52","UPI0000004160","Q9Y5S9-1","NM_005105.5","NM_005105.5","P3",null,"deleterious_low_confidence(0.01)","benign(0)","2024-06-06",null,"PDB-ENSP_mappings:2j0q.D;PDB-ENSP_mappings:2j0q.G;PDB-ENSP_mappings:3ex7.B;PDB-ENSP_mappings:3ex7.G;PDB-ENSP_mappings:5xjc.w;PDB-ENSP_mappings:5yzg.w;PDB-ENSP_mappings:6icz.w;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":19},"6.760590167687042e-06",0,0,"6.628660048590973e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GTCAGCGACGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM895181","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HORMAD1",84072,"BI","GRCh38","chr1",150704300,150704300,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.848del","p.Asn283ThrfsTer12","p.N283Tfs*12","ENST00000361824","2024-11-15",21,12,9,14,null,null,"HORMAD1,frameshift_variant,p.N283Tfs*12,ENST00000361824,NM_032132.5,c.848del,HIGH,YES,,,-1;HORMAD1,frameshift_variant,p.N203Tfs*12,ENST00000368995,,c.608del,HIGH,,,,-1;HORMAD1,frameshift_variant,p.N276Tfs*12,ENST00000322343,NM_001199829.2,c.827del,HIGH,,,,-1;HORMAD1,downstream_gene_variant,,ENST00000368987,,,MODIFIER,,,,-1;HORMAD1,downstream_gene_variant,,ENST00000442853,,,MODIFIER,,,,-1;RNU6-1042P,downstream_gene_variant,,ENST00000384204,,,MODIFIER,YES,,,1;HORMAD1,non_coding_transcript_exon_variant,,ENST00000470397,,n.8del,MODIFIER,,,,-1;HORMAD1,non_coding_transcript_exon_variant,,ENST00000486497,,n.315del,MODIFIER,,,,-1","-","ENSG00000143452","ENST00000361824","Transcript","frameshift_variant","frameshift_variant","973/1904","848/1185","283/394","N/X","aAc/ac",null,null,-1,"HORMAD1","HGNC","HGNC:25245","protein_coding","YES","CCDS967.1","ENSP00000355167","Q86X24.131","A0A140VKG9.19","UPI000000DBE5","Q86X24-1","NM_032132.5","NM_032132.5","P1",{"$nulls":3},"2024-11-15",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Gene3D:3.30.900.10",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"GCAGGGTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2182470","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["GON4L",54856,"BI","GRCh38","chr1",155853381,155853381,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.400del","p.Met134Ter","p.M134*","ENST00000368331","2/32",162,124,38,136,null,null,"GON4L,frameshift_variant,p.M134*,ENST00000368331,NM_001282860.2,c.400del,HIGH,YES,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000615926,NM_001282856.1,c.400del,HIGH,,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000437809,,c.400del,HIGH,,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000271883,NM_001282858.2,c.400del,HIGH,,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000620426,,c.400del,HIGH,,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000361040,NM_032292.6&NM_001282861.2,c.400del,HIGH,,,,-1;GON4L,frameshift_variant,p.M134*,ENST00000622608,,c.400del,HIGH,,,,-1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,,n.497del,MODIFIER,,,,-1;GON4L,non_coding_transcript_exon_variant,,ENST00000488251,,n.429del,MODIFIER,,,,-1;GON4L,non_coding_transcript_exon_variant,,ENST00000468867,,n.25del,MODIFIER,,,,-1","-","ENSG00000116580","ENST00000368331","Transcript","frameshift_variant","frameshift_variant","575/7823","400/6726","134/2241","M/X","Atg/tg",null,null,-1,"GON4L","HGNC","HGNC:25973","protein_coding","YES","CCDS60296.1","ENSP00000357315","Q3T8J9.138",null,"UPI0000351551","Q3T8J9-1","NM_001282860.2",null,"P4",{"$nulls":3},"2/32",null,"MobiDB_lite:mobidb-lite",{"$nulls":19},"6.767369995941408e-06",0,0,0,0,0,"9.446439798921347e-05",0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,null,null,1,"GTGTCATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1334736;COSM1334737;COSM1334738","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SMG5",23381,"BI","GRCh38","chr1",156266119,156266119,"+","Missense_Mutation","SNP","G","G","A","rs772301844",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1517C>T","p.Thr506Met","p.T506M","ENST00000361813","2024-12-22",152,109,43,140,null,null,"SMG5,missense_variant,p.T506M,ENST00000361813,NM_001323617.1&NM_001323615.1&NM_001323614.1&NM_001323616.1&NM_015327.3,c.1517C>T,MODERATE,YES,deleterious(0),benign(0.057),-1;SMG5,downstream_gene_variant,,ENST00000489907,,,MODIFIER,,,,-1","A","ENSG00000198952","ENST00000361813","Transcript","missense_variant","missense_variant","1662/4559","1517/3051","506/1016","T/M","aCg/aTg","rs772301844;COSV62435948",null,-1,"SMG5","HGNC","HGNC:24644","protein_coding","YES","CCDS1137.1","ENSP00000355261","Q9UPR3.159",null,"UPI0000050C24",null,"NM_001323617.1;NM_001323615.1;NM_001323614.1;NM_001323616.1;NM_015327.3","NM_015327.3","P1",null,"deleterious(0)","benign(0.057)","2024-12-22",null,"PANTHER:PTHR15696;PANTHER:PTHR15696:SF23;Superfamily:SSF48452;MobiDB_lite:mobidb-lite",{"$nulls":8},"4.772e-05",0.0004307,1.156E-4,0,0,0,"8.793e-06",0,0,0.0004307,"gnomAD_AFR",1.08184001874178E-4,0.000340566009981557,0,"6.63305982016027e-05",0,0,0,0,0,4.94070991408079E-4,0,0.000340566009981557,"afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGGCCGTTCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4023224","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TMEM79",84283,"BI","GRCh38","chr1",156285706,156285707,"+","Frame_Shift_Ins","INS","-","-","C","rs780694092",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.487dup","p.Arg163ProfsTer9","p.R163Pfs*9","ENST00000295694","2024-02-04",64,48,16,72,null,null,"TMEM79,frameshift_variant,p.R163Pfs*9,ENST00000295694,,c.487dup,HIGH,YES,,,1;TMEM79,frameshift_variant,p.R163Pfs*9,ENST00000405535,NM_032323.3,c.487dup,HIGH,,,,1;TMEM79,intron_variant,,ENST00000357501,,c.41+446dup,MODIFIER,,,,1;TMEM79,intron_variant,,ENST00000456810,,c.41+446dup,MODIFIER,,,,1;SMG5,upstream_gene_variant,,ENST00000361813,NM_001323617.1&NM_001323615.1&NM_001323614.1&NM_001323616.1&NM_015327.3,,MODIFIER,YES,,,-1;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,,n.623dup,MODIFIER,,,,1;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,,n.404dup,MODIFIER,,,,1;GLMP,downstream_gene_variant,,ENST00000480968,,,MODIFIER,,,,-1;TMEM79,upstream_gene_variant,,ENST00000485135,,,MODIFIER,,,,1;GLMP,downstream_gene_variant,,ENST00000497831,,,MODIFIER,,,,-1;GLMP,downstream_gene_variant,,ENST00000461597,,,MODIFIER,,,,-1;GLMP,downstream_gene_variant,,ENST00000472870,,,MODIFIER,,,,-1;GLMP,downstream_gene_variant,,ENST00000647767,,,MODIFIER,,,,-1","C","ENSG00000163472","ENST00000295694","Transcript","frameshift_variant","frameshift_variant","641-642/2191","480-481/1185","160-161/394","-/X","-/C","rs780694092",null,1,"TMEM79","HGNC","HGNC:28196","protein_coding","YES","CCDS1138.1","ENSP00000295694","Q9BSE2.128",null,"UPI000006F977",{"$nulls":3},"P2",{"$nulls":3},"2024-02-04",null,"PANTHER:PTHR31004",{"$nulls":8},"8.038e-05",0,"8.687e-05","9.986e-05",1.093E-4,"9.618e-05","9.784e-05",0.0001642,0,0.0001642,"gnomAD_OTH",0.000101425001048482,"2.4324999685632065e-05",0,0.000397666997741907,0,0.000201368995476514,0,0,"9.26154971239157e-05",0.000494559993967413,0,0.000397666997741907,"amr",{"$nulls":9},"HIGH",1,"insertion",1,7,null,null,"TTCATGCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1983269","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["FCRL3",115352,"BI","GRCh38","chr1",157696219,157696220,"+","Frame_Shift_Del","DEL","AC","AC","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.952_953del","p.Val318HisfsTer15","p.V318Hfs*15","ENST00000368184","2024-07-15",144,109,34,129,null,null,"FCRL3,frameshift_variant,p.V318Hfs*15,ENST00000368184,NM_052939.4,c.952_953del,HIGH,,,,-1;FCRL3,frameshift_variant,p.V318Hfs*15,ENST00000368186,NM_001320333.2,c.952_953del,HIGH,YES,,,-1;FCRL3,downstream_gene_variant,,ENST00000496769,,,MODIFIER,,,,-1;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,,n.1794_1795del,MODIFIER,,,,-1;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,,n.1351_1352del,MODIFIER,,,,-1;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,,n.1022_1023del,MODIFIER,,,,-1;FCRL3,downstream_gene_variant,,ENST00000478179,,,MODIFIER,,,,-1;FCRL3,frameshift_variant,p.V318Hfs*15,ENST00000492769,,c.952_953del,HIGH,,,,-1;FCRL3,frameshift_variant,p.V318Hfs*15,ENST00000485028,,c.952_953del,HIGH,,,,-1;FCRL3,frameshift_variant,p.V223Hfs*15,ENST00000477837,,c.667_668del,HIGH,,,,-1;AL356276.1,non_coding_transcript_exon_variant,,ENST00000453692,,n.519_520del,MODIFIER,YES,,,1","-","ENSG00000160856","ENST00000368184","Transcript","frameshift_variant","frameshift_variant","1156-1157/4638","952-953/2205","318/734","V/X","GTc/c",null,null,-1,"FCRL3","HGNC","HGNC:18506","protein_coding",null,"CCDS1167.1","ENSP00000357167","Q96P31.154",null,"UPI000006D60E","Q96P31-1","NM_052939.4","NM_052939.4","A2",{"$nulls":3},"2024-07-15",null,"Gene3D:2.60.40.10;Pfam:PF00047;PROSITE_profiles:PS50835;PANTHER:PTHR11481;PANTHER:PTHR11481:SF93;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"AATGTGACAGTCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["OR6Y1",391112,"BI","GRCh38","chr1",158547395,158547395,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.711G>T","p.Gln237His","p.Q237H","ENST00000302617","2024-01-01",83,57,26,121,null,null,"OR6Y1,missense_variant,p.Q237H,ENST00000641622,,c.711G>T,MODERATE,YES,deleterious(0.05),probably_damaging(0.985),-1;OR6Y1,missense_variant,p.Q237H,ENST00000641282,,c.711G>T,MODERATE,,deleterious(0.05),probably_damaging(0.985),-1;OR6Y1,missense_variant,p.Q237H,ENST00000302617,NM_001005189.1,c.711G>T,MODERATE,,deleterious(0.05),probably_damaging(0.985),-1","A","ENSG00000197532","ENST00000302617","Transcript","missense_variant","missense_variant","711/978","711/978","237/325","Q/H","caG/caT","COSV56929837",null,-1,"OR6Y1","HGNC","HGNC:14823","protein_coding",null,"CCDS30899.1","ENSP00000304807","Q8NGX8.137",null,"UPI000004B1E2",null,"NM_001005189.1",null,"P1",null,"deleterious(0.05)","probably_damaging(0.985)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF109;Superfamily:SSF81321;CDD:cd15224",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"CGGCCCTGAGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4023723","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FCGR2B",2213,"BI","GRCh38","chr1",161671509,161671509,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.251G>T","p.Trp84Leu","p.W84L","ENST00000358671","2024-03-08",93,66,27,102,null,null,"FCGR2B,missense_variant,p.W84L,ENST00000358671,NM_004001.4&NM_001002275.2,c.251G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;FCGR2B,missense_variant,p.W77L,ENST00000367961,NM_001190828.1,c.230G>T,MODERATE,,deleterious(0),probably_damaging(1),1;FCGR2B,missense_variant,p.W84L,ENST00000236937,NM_001002274.2&NM_001002273.2,c.251G>T,MODERATE,,deleterious(0),probably_damaging(1),1;FCGR2B,non_coding_transcript_exon_variant,,ENST00000674150,,n.343G>T,MODIFIER,,,,1;FCGR2B,non_coding_transcript_exon_variant,,ENST00000480308,,n.301G>T,MODIFIER,,,,1;FCGR2B,non_coding_transcript_exon_variant,,ENST00000485778,,n.294G>T,MODIFIER,,,,1;AL451067.1,downstream_gene_variant,,ENST00000453111,,,MODIFIER,,,,-1;AL451067.1,downstream_gene_variant,,ENST00000626340,,,MODIFIER,YES,,,-1","T","ENSG00000072694","ENST00000358671","Transcript","missense_variant","missense_variant","332/2115","251/933","84/310","W/L","tGg/tTg","COSV52681986",null,1,"FCGR2B","HGNC","HGNC:3618","protein_coding","YES","CCDS30924.1","ENSP00000351497","P31994.219",null,"UPI0000001600","P31994-1","NM_004001.4;NM_001002275.2",null,"A2",null,"deleterious(0)","probably_damaging(1)","2024-03-08",null,"Gene3D:2.60.40.10;PDB-ENSP_mappings:2fcb.A;PDB-ENSP_mappings:3wjj.C;PDB-ENSP_mappings:5occ.A;Pfam:PF13895;PROSITE_profiles:PS50835;PANTHER:PTHR11481;PANTHER:PTHR11481:SF51;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd05752",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TCAGTGGTTCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4024419;COSM4024420","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LMX1A",4009,"BI","GRCh38","chr1",165355514,165355514,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.46G>A","p.Asp16Asn","p.D16N","ENST00000294816","2024-02-09",47,32,14,46,null,null,"LMX1A,missense_variant,p.D16N,ENST00000342310,NM_177398.4,c.46G>A,MODERATE,YES,tolerated_low_confidence(0.27),benign(0.076),-1;LMX1A,missense_variant,p.D16N,ENST00000294816,NM_001174069.1,c.46G>A,MODERATE,,tolerated_low_confidence(0.27),benign(0.076),-1;LMX1A,missense_variant,p.D16N,ENST00000367893,,c.46G>A,MODERATE,,tolerated_low_confidence(0.27),benign(0.076),-1","T","ENSG00000162761","ENST00000294816","Transcript","missense_variant","missense_variant","240/3350","46/1149","16/382","D/N","Gac/Aac","COSV99671926",null,-1,"LMX1A","HGNC","HGNC:6653","protein_coding",null,"CCDS1247.1","ENSP00000294816","Q8TE12.156",null,"UPI000012E793","Q8TE12-1","NM_001174069.1",null,"P1",null,"tolerated_low_confidence(0.27)","benign(0.076)","2024-02-09",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,1,"GGTGTCGATCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KIFAP3",22920,"BI","GRCh38","chr1",170035464,170035464,"+","Frame_Shift_Del","DEL","A","A","-","rs1380692252",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.607del","p.Cys203ValfsTer22","p.C203Vfs*22","ENST00000361580","2024-06-20",47,39,8,34,null,null,"KIFAP3,frameshift_variant,p.C163Vfs*22,ENST00000367765,NM_001204517.1,c.487del,HIGH,,,,-1;KIFAP3,frameshift_variant,p.C125Vfs*22,ENST00000538366,NM_001204514.1,c.373del,HIGH,,,,-1;KIFAP3,frameshift_variant,p.C203Vfs*22,ENST00000361580,NM_014970.4&NM_001375830.1&NM_001375831.1,c.607del,HIGH,YES,,,-1;KIFAP3,frameshift_variant,p.C159Vfs*22,ENST00000367767,NM_001204516.1,c.475del,HIGH,,,,-1;KIFAP3,upstream_gene_variant,,ENST00000474292,,,MODIFIER,,,,-1;KIFAP3,downstream_gene_variant,,ENST00000490550,,,MODIFIER,,,,-1","-","ENSG00000075945","ENST00000361580","Transcript","frameshift_variant","frameshift_variant","835/2954","607/2379","203/792","C/X","Tgt/gt","rs1380692252",null,-1,"KIFAP3","HGNC","HGNC:17060","protein_coding","YES","CCDS1288.1","ENSP00000354560","Q92845.170",null,"UPI000006CD6C","Q92845-1","NM_014970.4;NM_001375830.1;NM_001375831.1","NM_014970.4","P1",{"$nulls":3},"2024-06-20",null,"Pfam:PF05804;PANTHER:PTHR15605;SMART:SM01297;Low_complexity_(Seg):seg",{"$nulls":8},"1.24e-05",0,"3.069e-05",0,0,0,0,0,"6.838e-05","6.838e-05","gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,{"$nulls":3},"AGAAACAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1336146;COSM2074098","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FMO1",2326,"BI","GRCh38","chr1",171282171,171282171,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1021T>C","p.Ser341Pro","p.S341P","ENST00000354841","2024-06-08",146,99,47,172,null,null,"FMO1,missense_variant,p.S341P,ENST00000354841,NM_001282692.1,c.1021T>C,MODERATE,YES,tolerated(0.22),benign(0.134),1;FMO1,missense_variant,p.S341P,ENST00000367750,NM_002021.3,c.1021T>C,MODERATE,,tolerated(0.22),benign(0.134),1;FMO1,missense_variant,p.S341P,ENST00000617670,NM_001282693.2,c.1021T>C,MODERATE,,tolerated(0.22),benign(0.134),1;FMO1,missense_variant,p.S278P,ENST00000402921,NM_001282694.1,c.832T>C,MODERATE,,tolerated(0.27),benign(0.186),1;FMO1,intron_variant,,ENST00000472893,,n.594+106T>C,MODIFIER,,,,1;FMO1,upstream_gene_variant,,ENST00000469711,,,MODIFIER,,,,1;FMO1,3_prime_UTR_variant,,ENST00000469112,,c.*809T>C,MODIFIER,,,,1","C","ENSG00000010932","ENST00000354841","Transcript","missense_variant","missense_variant","1152/2160","1021/1599","341/532","S/P","Tct/Cct","COSV61446269",null,1,"FMO1","HGNC","HGNC:3769","protein_coding","YES","CCDS1294.1","ENSP00000346901","Q01740.177","A0A024R934.52","UPI000000DBBA","Q01740-1","NM_001282692.1",null,"P1",null,"tolerated(0.22)","benign(0.134)","2024-06-08",null,"Gene3D:3.50.50.60;Pfam:PF00743;PIRSF:PIRSF000332;Prints:PR00370;PANTHER:PTHR23023;PANTHER:PTHR23023:SF154;Superfamily:SSF51905",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGAGTCTGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4025055","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR52",9293,"BI","GRCh38","chr1",174448752,174448752,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.641C>A","p.Pro214His","p.P214H","ENST00000367685","2024-01-01",226,214,11,230,null,null,"GPR52,missense_variant,p.P214H,ENST00000367685,NM_005684.5,c.641C>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;RABGAP1L,intron_variant,,ENST00000251507,NM_014857.4&NM_001366446.1&NM_001366448.1&NM_001366447.1,c.1710+54607C>A,MODIFIER,YES,,,1;RABGAP1L,intron_variant,,ENST00000357444,NM_001366445.1,c.1599+54607C>A,MODIFIER,,,,1;RABGAP1L,intron_variant,,ENST00000367690,NM_001366449.1,c.651+54607C>A,MODIFIER,,,,1;RABGAP1L,intron_variant,,ENST00000526253,,n.325+54607C>A,MODIFIER,,,,1","A","ENSG00000203737","ENST00000367685","Transcript","missense_variant","missense_variant","789/1582","641/1086","214/361","P/H","cCt/cAt","COSV52302890",null,1,"GPR52","HGNC","HGNC:4508","protein_coding","YES","CCDS30941.1","ENSP00000356658","Q9Y2T5.141","F2YGU0.66","UPI0000153A3C",null,"NM_005684.5","NM_005684.5","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-01-01",null,"Gene3D:1.20.1070.10;PDB-ENSP_mappings:6li0.A;PDB-ENSP_mappings:6li1.A;PDB-ENSP_mappings:6li2.A;PDB-ENSP_mappings:6li3.R;Pfam:PF00001;PROSITE_profiles:PS50262;PANTHER:PTHR24249;PANTHER:PTHR24249:SF388;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd00637",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TGCTCCTGCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4025273","N","Unknown",{"$nulls":3},"muse;mutect2"]
["LAMC1",3915,"BI","GRCh38","chr1",183128709,183128709,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3239G>T","p.Arg1080Met","p.R1080M","ENST00000258341","18/28",72,55,17,68,null,null,"LAMC1,missense_variant,p.R1080M,ENST00000258341,NM_002293.4,c.3239G>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.459),1;LAMC1,non_coding_transcript_exon_variant,,ENST00000466964,,n.801G>T,MODIFIER,,,,1;LAMC1,non_coding_transcript_exon_variant,,ENST00000478064,,n.114G>T,MODIFIER,,,,1","T","ENSG00000135862","ENST00000258341","Transcript","missense_variant","missense_variant","3536/7929","3239/4830","1080/1609","R/M","aGg/aTg","COSV51147927",null,1,"LAMC1","HGNC","HGNC:6492","protein_coding","YES","CCDS1351.1","ENSP00000258341","P11047.223",null,"UPI000013CFC7",null,"NM_002293.4","NM_002293.4","P1",null,"deleterious(0.02)","possibly_damaging(0.459)","18/28",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR10574;PANTHER:PTHR10574:SF270",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGAGAGGGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4025905","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDC73",79577,"BI","GRCh38","chr1",193236264,193236264,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1325T>G","p.Val442Gly","p.V442G","ENST00000367435","15/17",158,109,48,157,null,null,"CDC73,missense_variant,p.V442G,ENST00000367435,NM_024529.5,c.1325T>G,MODERATE,YES,deleterious(0),probably_damaging(0.977),1;CDC73,missense_variant,p.V361G,ENST00000635846,,c.1082T>G,MODERATE,,deleterious(0),possibly_damaging(0.854),1;Metazoa_SRP,downstream_gene_variant,,ENST00000620543,,,MODIFIER,YES,,,-1;CDC73,non_coding_transcript_exon_variant,,ENST00000649895,,n.1543T>G,MODIFIER,,,,1;CDC73,non_coding_transcript_exon_variant,,ENST00000649613,,n.575T>G,MODIFIER,,,,1;CDC73,intron_variant,,ENST00000477868,,n.129+3110T>G,MODIFIER,,,,1;CDC73,missense_variant,p.V442G,ENST00000650197,,c.1325T>G,MODERATE,,deleterious(0),probably_damaging(1),1;CDC73,3_prime_UTR_variant,,ENST00000643006,,c.*235T>G,MODIFIER,,,,1;CDC73,3_prime_UTR_variant,,ENST00000648071,,c.*1301T>G,MODIFIER,,,,1","G","ENSG00000134371","ENST00000367435","Transcript","missense_variant","missense_variant","1495/5869","1325/1596","442/531","V/G","gTt/gGt","COSV66467734",null,1,"CDC73","HGNC","HGNC:16783","protein_coding","YES","CCDS1382.1","ENSP00000356405","Q6P1J9.170",null,"UPI0000021592",null,"NM_024529.5","NM_024529.5","P1",null,"deleterious(0)","probably_damaging(0.977)","15/17",null,"Gene3D:3.40.50.11990;Pfam:PF05179;PANTHER:PTHR12466",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCGCGTTGTAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4026327","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ASPM",259266,"BI","GRCh38","chr1",197100819,197100819,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.8432A>G","p.Tyr2811Cys","p.Y2811C","ENST00000367409","18/28",145,108,37,168,null,null,"ASPM,missense_variant,p.Y2811C,ENST00000367409,NM_018136.5,c.8432A>G,MODERATE,YES,deleterious(0.04),possibly_damaging(0.827),-1;ASPM,intron_variant,,ENST00000294732,NM_001206846.1,c.4066-4655A>G,MODIFIER,,,,-1;ASPM,intron_variant,,ENST00000367408,,c.1816-4655A>G,MODIFIER,,,,-1","C","ENSG00000066279","ENST00000367409","Transcript","missense_variant","missense_variant","8664/10863","8432/10434","2811/3477","Y/C","tAt/tGt","COSV54131999",null,-1,"ASPM","HGNC","HGNC:19048","protein_coding","YES","CCDS1389.1","ENSP00000356379","Q8IZT6.170",null,"UPI0000458904","Q8IZT6-1","NM_018136.5","NM_018136.5","P1",null,"deleterious(0.04)","possibly_damaging(0.827)","18/28",null,"PANTHER:PTHR22590;PANTHER:PTHR22590:SF4",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AATGATACTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4026601","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IPO9",55705,"BI","GRCh38","chr1",201872896,201872896,"+","Missense_Mutation","SNP","G","G","A","rs373531363",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2645G>A","p.Arg882His","p.R882H","ENST00000361565","20/24",114,62,52,83,null,null,"IPO9,missense_variant,p.R882H,ENST00000361565,NM_018085.5,c.2645G>A,MODERATE,YES,tolerated(0.18),benign(0.085),1;IPO9,upstream_gene_variant,,ENST00000456707,,,MODIFIER,,,,1","A","ENSG00000198700","ENST00000361565","Transcript","missense_variant","missense_variant","2698/11416","2645/3126","882/1041","R/H","cGt/cAt","rs373531363;COSV64234097",null,1,"IPO9","HGNC","HGNC:19425","protein_coding","YES","CCDS1415.1","ENSP00000354742","Q96P70.169",null,"UPI000007304B",null,"NM_018085.5","NM_018085.5","P1",null,"tolerated(0.18)","benign(0.085)","20/24",null,"PDB-ENSP_mappings:6n1z.A;PDB-ENSP_mappings:6n1z.D;PANTHER:PTHR10997;PANTHER:PTHR10997:SF9;Superfamily:SSF48371",{"$nulls":8},"2.389e-05",0,1.448E-4,0,0,0,"8.803e-06",0,0,1.448E-4,"gnomAD_AMR","1.3521899745683186e-05",0,0,0.000132537999888882,0,0,0,0,0,0,0,0.000132537999888882,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TATCCGTGTGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4026971","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SHISA4",149345,"BI","GRCh38","chr1",201890466,201890466,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.258del","p.Ile86MetfsTer8","p.I86Mfs*8","ENST00000362011","2024-03-05",199,145,54,215,null,null,"SHISA4,frameshift_variant,p.I86Mfs*8,ENST00000362011,NM_198149.3,c.258del,HIGH,YES,,,1;SHISA4,non_coding_transcript_exon_variant,,ENST00000464117,,n.287del,MODIFIER,,,,1;SHISA4,non_coding_transcript_exon_variant,,ENST00000481699,,n.696del,MODIFIER,,,,1;AL513217.1,upstream_gene_variant,,ENST00000414927,,,MODIFIER,,,,1","-","ENSG00000198892","ENST00000362011","Transcript","frameshift_variant","frameshift_variant","355/1432","258/594","86/197","I/X","atA/at",null,null,1,"SHISA4","HGNC","HGNC:27139","protein_coding","YES","CCDS1416.1","ENSP00000355064","Q96DD7.114",null,"UPI000003ED24",null,"NM_198149.3","NM_198149.3","P1",{"$nulls":3},"2024-03-05",null,"Pfam:PF13908;PANTHER:PTHR31395;PANTHER:PTHR31395:SF5;Transmembrane_helices:TMhelix",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"GACCATAGCAGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RAB29",8934,"BI","GRCh38","chr1",205774911,205774911,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.46G>A","p.Ala16Thr","p.A16T","ENST00000235932","2024-02-06",63,45,18,76,null,null,"RAB29,missense_variant,p.A16T,ENST00000367139,NM_001135662.2&NM_003929.3,c.46G>A,MODERATE,YES,tolerated(0.05),benign(0.309),-1;RAB29,missense_variant,p.A16T,ENST00000235932,,c.46G>A,MODERATE,,tolerated(0.05),benign(0.309),-1;RAB29,missense_variant,p.A16T,ENST00000446390,NM_001135663.2,c.46G>A,MODERATE,,tolerated(0.06),benign(0.102),-1;RAB29,missense_variant,p.A16T,ENST00000414729,,c.46G>A,MODERATE,,tolerated(0.05),benign(0.309),-1;RAB29,intron_variant,,ENST00000437324,NM_001135664.2,c.-93+362G>A,MODIFIER,,,,-1;RAB29,intron_variant,,ENST00000468887,,n.168+362G>A,MODIFIER,,,,-1;RAB29,intron_variant,,ENST00000533111,,n.81+218G>A,MODIFIER,,,,-1;RAB29,missense_variant,p.A16T,ENST00000528078,,c.46G>A,MODERATE,,tolerated(0.37),benign(0.309),-1;RAB29,non_coding_transcript_exon_variant,,ENST00000492534,,n.241G>A,MODIFIER,,,,-1;AC119673.1,upstream_gene_variant,,ENST00000648961,,,MODIFIER,YES,,,1","T","ENSG00000117280","ENST00000235932","Transcript","missense_variant","missense_variant","252/1723","46/612","16/203","A/T","Gcc/Acc","COSV52521520",null,-1,"RAB29","HGNC","HGNC:9789","protein_coding",null,"CCDS1459.1","ENSP00000235932","O14966.186","Q6FGU7.142","UPI0000133181","O14966-1",null,null,"P1",null,"tolerated(0.05)","benign(0.309)","2024-02-06",null,"Gene3D:3.40.50.300;PDB-ENSP_mappings:6hh2.A;Pfam:PF00071;Prints:PR00449;PROSITE_profiles:PS51419;PANTHER:PTHR24073;PANTHER:PTHR24073:SF315;SMART:SM00173;SMART:SM00174;SMART:SM00175;SMART:SM00176;Superfamily:SSF52540;TIGRFAM:TIGR00231;CDD:cd04107",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TGCGGCGTCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4027475","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CAMK1G",57172,"BI","GRCh38","chr1",209605546,209605546,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.310del","p.Glu104SerfsTer20","p.E104Sfs*20","ENST00000009105","2024-05-13",212,164,48,176,null,null,"CAMK1G,frameshift_variant,p.E8Sfs*20,ENST00000651530,,c.22del,HIGH,,,,1;CAMK1G,frameshift_variant,p.E104Sfs*20,ENST00000009105,,c.310del,HIGH,YES,,,1;CAMK1G,frameshift_variant,p.E104Sfs*20,ENST00000361322,NM_020439.3,c.310del,HIGH,,,,1;CAMK1G,frameshift_variant,p.E104Sfs*20,ENST00000423146,,c.310del,HIGH,,,,1;CAMK1G,upstream_gene_variant,,ENST00000494990,,,MODIFIER,,,,1","-","ENSG00000008118","ENST00000009105","Transcript","frameshift_variant","frameshift_variant","552/2612","307/1431","103/476","G/X","Ggg/gg",null,null,1,"CAMK1G","HGNC","HGNC:14585","protein_coding","YES","CCDS1486.1","ENSP00000009105","Q96NX5.174",null,"UPI0000049BF8","Q96NX5-1",null,null,"P1",{"$nulls":3},"2024-05-13",null,"Gene3D:1.10.510.10;Pfam:PF00069;PROSITE_profiles:PS50011;PANTHER:PTHR24347;PANTHER:PTHR24347:SF116;SMART:SM00220;Superfamily:SSF56112;CDD:cd14166",{"$nulls":41},"HIGH",1,"deletion",2,3,null,null,"TCTGGTGGGGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RPS6KC1",26750,"BI","GRCh38","chr1",213272548,213272548,"+","Nonsense_Mutation","SNP","C","C","T","rs780526542",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3115C>T","p.Arg1039Ter","p.R1039*","ENST00000366960","15/15",74,51,23,66,null,null,"RPS6KC1,stop_gained,p.R1039*,ENST00000366960,NM_001349646.1&NM_001349647.1&NM_012424.6,c.3115C>T,HIGH,YES,,,1;RPS6KC1,stop_gained,p.R1027*,ENST00000366959,NM_001136138.3,c.3079C>T,HIGH,,,,1;RPS6KC1,stop_gained,p.R827*,ENST00000543470,NM_001287219.2,c.2479C>T,HIGH,,,,1;RPS6KC1,stop_gained,p.R827*,ENST00000614059,NM_001349660.1&NM_001349654.1&NM_001287218.2&NM_001349659.1&NM_001349662.1&NM_001349661.1,c.2479C>T,HIGH,,,,1;RPS6KC1,stop_gained,p.R858*,ENST00000543354,NM_001349651.1&NM_001349650.1&NM_001349649.1&NM_001349658.1&NM_001349648.1&NM_001349652.1&NM_001349653.1&NM_001349657.1&NM_001287221.2,c.2572C>T,HIGH,,,,1;RPS6KC1,stop_gained,p.R574*,ENST00000615329,NM_001349669.1&NM_001349666.1&NM_001349664.1&NM_001349671.1&NM_001349668.1&NM_001287220.2&NM_001349670.1&NM_001349663.1&NM_001349667.1&NM_001349672.1&NM_001349665.1,c.1720C>T,HIGH,,,,1;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,,n.2929C>T,MODIFIER,,,,1","T","ENSG00000136643","ENST00000366960","Transcript","stop_gained","stop_gained","3279/5505","3115/3201","1039/1066","R/*","Cga/Tga","rs780526542;COSV65300439",null,1,"RPS6KC1","HGNC","HGNC:10439","protein_coding","YES","CCDS1513.1","ENSP00000355927","Q96S38.161",null,"UPI0000071B8C","Q96S38-1","NM_001349646.1;NM_001349647.1;NM_012424.6","NM_012424.6","P2",{"$nulls":3},"15/15",null,"Gene3D:1.10.510.10;Pfam:PF00069;PROSITE_profiles:PS50011;PANTHER:PTHR15508;PANTHER:PTHR15508:SF2;SMART:SM00220;Superfamily:SSF56112;CDD:cd05576",{"$nulls":8},"1.193e-05",0,0,0,"5.438e-05",0,"1.759e-05",0,0,"5.438e-05","gnomAD_EAS","6.759310053894296e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1",null,"TGGAACGACTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4027974","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DISP1",84976,"BI","GRCh38","chr1",223004404,223004404,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3007A>C","p.Thr1003Pro","p.T1003P","ENST00000284476","2024-08-08",126,75,51,127,null,null,"DISP1,missense_variant,p.T1003P,ENST00000675961,NM_001350630.2&NM_001377228.1,c.3007A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;DISP1,missense_variant,p.T1003P,ENST00000675850,NM_032890.5&NM_001377229.1,c.3007A>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;DISP1,missense_variant,p.T1003P,ENST00000284476,NM_001369594.1,c.3007A>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;DISP1,missense_variant,p.T1003P,ENST00000675039,,c.3007A>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;DISP1,3_prime_UTR_variant,,ENST00000676139,,c.*2340A>C,MODIFIER,,,,1;DISP1,3_prime_UTR_variant,,ENST00000674709,,c.*2534A>C,MODIFIER,,,,1;DISP1,3_prime_UTR_variant,,ENST00000674736,,c.*2363A>C,MODIFIER,,,,1;DISP1,downstream_gene_variant,,ENST00000676303,,,MODIFIER,,,,1","C","ENSG00000154309","ENST00000284476","Transcript","missense_variant","missense_variant","3171/4762","3007/4575","1003/1524","T/P","Act/Cct","COSV52660601",null,1,"DISP1","HGNC","HGNC:19711","protein_coding",null,"CCDS1536.1","ENSP00000284476","Q96F81.129",null,"UPI000016069D",null,"NM_001369594.1",null,"P1",null,"deleterious(0)","probably_damaging(0.999)","2024-08-08",null,"Gene3D:1.20.1640.10;Pfam:PF02460;PANTHER:PTHR45951;PANTHER:PTHR45951:SF4;Superfamily:SSF82866",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TGACAACTTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4028556","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARV1",64801,"BI","GRCh38","chr1",230995821,230995821,"+","Frame_Shift_Del","DEL","A","A","-","rs544784472",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.518del","p.Lys173SerfsTer8","p.K173Sfs*8","ENST00000310256","2024-04-06",61,41,19,42,null,null,"ARV1,frameshift_variant,p.K173Sfs*8,ENST00000310256,NM_022786.3,c.518del,HIGH,,,,1;ARV1,frameshift_variant,p.K133Sfs*8,ENST00000366658,,c.398del,HIGH,,,,1;ARV1,frameshift_variant,p.K170Sfs*8,ENST00000450711,,c.508del,HIGH,,,,1;ARV1,frameshift_variant,p.K193Sfs*8,ENST00000435927,NM_001346992.2,c.577del,HIGH,YES,,,1;ARV1,non_coding_transcript_exon_variant,,ENST00000497753,,n.883del,MODIFIER,,,,1;ARV1,frameshift_variant,p.K149Sfs*8,ENST00000480519,,c.446del,HIGH,,,,1;ARV1,frameshift_variant,p.K24Sfs*8,ENST00000459891,,c.70del,HIGH,,,,1","-","ENSG00000173409","ENST00000310256","Transcript","frameshift_variant","frameshift_variant","522/1428","510/816","170/271","A/X","gcA/gc","rs544784472;COSV59618356",null,1,"ARV1","HGNC","HGNC:29561","protein_coding",null,"CCDS1589.1","ENSP00000312458","Q9H2C2.142","A0A024R3V6.43","UPI0000036159",null,"NM_022786.3","NM_022786.3","P1",{"$nulls":3},"2024-04-06",null,"Pfam:PF04161;PANTHER:PTHR14467;PANTHER:PTHR14467:SF0",{"$nulls":8},"8.951e-05",0,"6.658e-05",0,"6.168e-05","5.082e-05",0.0001279,0,1.127E-4,0.0001279,"gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",null,"deletion",1,8,"0;1",1,"GACGGCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1340032","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SIPA1L2",57568,"BI","GRCh38","chr1",232425732,232425732,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4487G>T","p.Arg1496Met","p.R1496M","ENST00000262861","16/21",59,43,16,51,null,null,"SIPA1L2,missense_variant,p.R1496M,ENST00000674749,,c.4487G>T,MODERATE,,deleterious(0),possibly_damaging(0.87),-1;SIPA1L2,missense_variant,p.R1496M,ENST00000674635,NM_020808.5,c.4487G>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;SIPA1L2,missense_variant,p.R1496M,ENST00000675407,,c.4487G>T,MODERATE,,deleterious(0),possibly_damaging(0.87),-1;SIPA1L2,missense_variant,p.R1547M,ENST00000676213,,c.4640G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.876),-1;SIPA1L2,missense_variant,p.R1496M,ENST00000366630,,c.4487G>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;SIPA1L2,missense_variant,p.R1496M,ENST00000675685,NM_001377488.1,c.4487G>T,MODERATE,,deleterious(0),possibly_damaging(0.87),-1;SIPA1L2,missense_variant,p.R1496M,ENST00000262861,,c.4487G>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;SIPA1L2,missense_variant,p.R570M,ENST00000308942,,c.1709G>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;SIPA1L2,3_prime_UTR_variant,,ENST00000674801,,c.*2109G>T,MODIFIER,,,,-1","A","ENSG00000116991","ENST00000262861","Transcript","missense_variant","missense_variant","4714/6555","4487/5169","1496/1722","R/M","aGg/aTg","COSV53392541;COSV99479530",null,-1,"SIPA1L2","HGNC","HGNC:23800","protein_coding",null,"CCDS41474.1","ENSP00000262861","Q9P2F8.158",null,"UPI00001D7D6A","Q9P2F8-1",null,null,"P2",null,"deleterious(0)","probably_damaging(0.979)","16/21",null,"Pfam:PF11881;PANTHER:PTHR15711;PANTHER:PTHR15711:SF7;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"CCCTCCTGTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4029539;COSM4029540","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KMO",8564,"BI","GRCh38","chr1",241562214,241562214,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.497G>A","p.Cys166Tyr","p.C166Y","ENST00000366559","2024-07-15",54,38,16,89,null,null,"KMO,missense_variant,p.C166Y,ENST00000366559,NM_003679.5,c.497G>A,MODERATE,YES,deleterious(0),probably_damaging(0.975),1;KMO,missense_variant,p.C166Y,ENST00000366557,,c.497G>A,MODERATE,,deleterious(0),probably_damaging(0.952),1;KMO,missense_variant,p.C166Y,ENST00000366558,,c.497G>A,MODERATE,,deleterious(0),probably_damaging(0.957),1;KMO,non_coding_transcript_exon_variant,,ENST00000484628,,n.706G>A,MODIFIER,,,,1;KMO,non_coding_transcript_exon_variant,,ENST00000480967,,n.666G>A,MODIFIER,,,,1;KMO,non_coding_transcript_exon_variant,,ENST00000477907,,n.373G>A,MODIFIER,,,,1;KMO,non_coding_transcript_exon_variant,,ENST00000431245,,n.162G>A,MODIFIER,,,,1","A","ENSG00000117009","ENST00000366559","Transcript","missense_variant","missense_variant","564/5017","497/1461","166/486","C/Y","tGt/tAt","COSV63809012",null,1,"KMO","HGNC","HGNC:6381","protein_coding","YES","CCDS1618.1","ENSP00000355517","O15229.163",null,"UPI000045632A","O15229-1","NM_003679.5","NM_003679.5","P3",null,"deleterious(0)","probably_damaging(0.975)","2024-07-15",null,"Gene3D:3.50.50.60;PDB-ENSP_mappings:5x68.A;PDB-ENSP_mappings:5x68.B;HAMAP:MF_01971;Pfam:PF01494;Prints:PR00420;PANTHER:PTHR46028;PANTHER:PTHR46028:SF2;Superfamily:SSF51905",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGGATGTGATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4030157","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR2AK2",391191,"BI","GRCh38","chr1",247965945,247965945,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.569A>C","p.Gln190Pro","p.Q190P","ENST00000366480","2024-01-01",66,51,15,53,null,null,"OR2AK2,missense_variant,p.Q190P,ENST00000366480,NM_001004491.1,c.569A>C,MODERATE,YES,tolerated(0.16),possibly_damaging(0.88),1","C","ENSG00000187080","ENST00000366480","Transcript","missense_variant","missense_variant","713/1154","569/963","190/320","Q/P","cAg/cCg","COSV63554785",null,1,"OR2AK2","HGNC","HGNC:19569","protein_coding","YES",null,"ENSP00000355436",null,"A0A2C9F2M8.17","UPI0000061EA9",null,"NM_001004491.1",null,"P1",null,"tolerated(0.16)","possibly_damaging(0.88)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF299;Superfamily:SSF81321;CDD:cd15421",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"GTGTCAGGACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4030652","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCNF1",3754,"BI","GRCh38","chr2",10912674,10912674,"+","Missense_Mutation","SNP","C","C","T","rs193920977",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.248C>T","p.Pro83Leu","p.P83L","ENST00000295082","2024-01-01",57,40,16,64,null,null,"KCNF1,missense_variant,p.P83L,ENST00000295082,NM_002236.5,c.248C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1","T","ENSG00000162975","ENST00000295082","Transcript","missense_variant","missense_variant","741/2292","248/1485","83/494","P/L","cCg/cTg","rs193920977;COSV54462507;COSV99705524",null,1,"KCNF1","HGNC","HGNC:6246","protein_coding","YES","CCDS1676.1","ENSP00000295082","Q9H3M0.153",null,"UPI000012DC98",null,"NM_002236.5","NM_002236.5","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-01-01",null,"Gene3D:3.30.710.10;Pfam:PF02214;Prints:PR00169;Prints:PR01491;PANTHER:PTHR11537;PANTHER:PTHR11537:SF171;Superfamily:SSF54695;CDD:cd18381",{"$nulls":32},"uncertain_significance","0;1;1",23265383,{"$nulls":6},"MODERATE",1,"SNV",null,null,"1;1;1",null,"GGACCCGGACG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1178780","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ROCK2",9475,"BI","GRCh38","chr2",11192271,11192271,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4040del","p.Lys1347ArgfsTer21","p.K1347Rfs*21","ENST00000315872","32/33",313,224,88,258,null,null,"ROCK2,frameshift_variant,p.K1347Rfs*21,ENST00000315872,NM_001321643.2&NM_004850.5,c.4040del,HIGH,YES,,,-1;ROCK2,frameshift_variant,p.K662Rfs*21,ENST00000616279,,c.1985del,HIGH,,,,-1;ROCK2,frameshift_variant,p.K1104Rfs*21,ENST00000401753,,c.3311del,HIGH,,,,-1;ROCK2,downstream_gene_variant,,ENST00000460262,,,MODIFIER,,,,-1;ROCK2,downstream_gene_variant,,ENST00000493096,,,MODIFIER,,,,-1","-","ENSG00000134318","ENST00000315872","Transcript","frameshift_variant","frameshift_variant","4540/8345","4040/4167","1347/1388","K/X","aAg/ag",null,null,-1,"ROCK2","HGNC","HGNC:10252","protein_coding","YES","CCDS42654.1","ENSP00000317985","O75116.203","A0A2P9DU05.15","UPI000034ECB0",null,"NM_001321643.2;NM_004850.5","NM_004850.5","P1",{"$nulls":3},"32/33",null,"PIRSF:PIRSF037568;PROSITE_profiles:PS50003;PANTHER:PTHR22988;PANTHER:PTHR22988:SF28;SMART:SM00233;Superfamily:SSF50729;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"GGTATCTTTTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MATN3",4148,"BI","GRCh38","chr2",20000450,20000450,"+","Frame_Shift_Del","DEL","T","T","-","rs1203662025",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1159del","p.Thr387HisfsTer10","p.T387Hfs*10","ENST00000407540","2024-05-08",42,28,13,42,null,null,"MATN3,frameshift_variant,p.T387Hfs*10,ENST00000407540,NM_002381.5,c.1159del,HIGH,YES,,,-1;MATN3,frameshift_variant,p.T345Hfs*10,ENST00000421259,,c.1033del,HIGH,,,,-1;MATN3,upstream_gene_variant,,ENST00000478482,,,MODIFIER,,,,-1;AC079145.1,intron_variant,,ENST00000416575,,n.356+1179del,MODIFIER,,,,1;AC079145.1,intron_variant,,ENST00000658200,,n.359-846del,MODIFIER,YES,,,1","-","ENSG00000132031","ENST00000407540","Transcript","frameshift_variant","frameshift_variant","1196/2557","1159/1461","387/486","T/X","Aca/ca","rs1203662025",null,-1,"MATN3","HGNC","HGNC:6909","protein_coding","YES","CCDS46226.1","ENSP00000383894","O15232.191",null,"UPI000012F809","O15232-1","NM_002381.5","NM_002381.5","P1",{"$nulls":3},"2024-05-08",null,"Gene3D:2.10.25.10;Pfam:PF14670;PROSITE_patterns:PS01186;PROSITE_profiles:PS50026;PANTHER:PTHR24034;PANTHER:PTHR24034:SF105;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184",{"$nulls":8},"4.176e-06",0,"3.171e-05",0,0,0,0,0,0,"3.171e-05","gnomAD_AMR",{"$nulls":22},"HIGH",1,"deletion",1,null,null,1,"AACATGTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM266903","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["APOB",338,"BI","GRCh38","chr2",21007891,21007891,"+","Missense_Mutation","SNP","C","C","T","rs1046539639",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.8977G>A","p.Asp2993Asn","p.D2993N","ENST00000233242","26/29",114,81,33,82,null,null,"APOB,missense_variant,p.D2993N,ENST00000233242,NM_000384.3,c.8977G>A,MODERATE,YES,deleterious(0),benign(0.106),-1;APOB,downstream_gene_variant,,ENST00000673739,,,MODIFIER,,,,-1","T","ENSG00000084674","ENST00000233242","Transcript","missense_variant","missense_variant","9105/14121","8977/13692","2993/4563","D/N","Gat/Aat","rs1046539639;COSV51938081;COSV51941541",null,-1,"APOB","HGNC","HGNC:603","protein_coding","YES","CCDS1703.1","ENSP00000233242","P04114.234",null,"UPI0004620B75",null,"NM_000384.3","NM_000384.3","P1",null,"deleterious(0)","benign(0.106)","26/29",null,"PANTHER:PTHR13769;PANTHER:PTHR13769:SF1",{"$nulls":8},"1.195e-05","6.155e-05",0,0,0,"4.628e-05",0,0.0001634,0,0.0001634,"gnomAD_OTH","2.704270082176663e-05","9.726679854793474e-05",0,0,0,0,0,0,0,0,0,"9.726679854793474e-05","afr",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GGAATCGACTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2716077","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ASXL2",55252,"BI","GRCh38","chr2",25743270,25743270,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3067A>G","p.Thr1023Ala","p.T1023A","ENST00000435504","13/13",23,15,8,33,null,null,"ASXL2,missense_variant,p.T1023A,ENST00000435504,NM_018263.6,c.3067A>G,MODERATE,YES,tolerated(0.44),benign(0),-1;ASXL2,missense_variant,p.T995A,ENST00000336112,NM_001369346.1,c.2983A>G,MODERATE,,tolerated(0.44),benign(0),-1;ASXL2,intron_variant,,ENST00000404843,NM_001369347.1,c.1730-214A>G,MODIFIER,,,,-1;ASXL2,downstream_gene_variant,,ENST00000672666,,,MODIFIER,,,,-1;ASXL2,downstream_gene_variant,,ENST00000673455,,,MODIFIER,,,,-1","C","ENSG00000143970","ENST00000435504","Transcript","missense_variant","missense_variant","3332/12849","3067/4308","1023/1435","T/A","Acc/Gcc","COSV55460597",null,-1,"ASXL2","HGNC","HGNC:23805","protein_coding","YES",null,"ENSP00000391447","Q76L83.130",null,"UPI00001DFBE8","Q76L83-1","NM_018263.6","NM_018263.6","A2",null,"tolerated(0.44)","benign(0)","13/13",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR13578:SF11;PANTHER:PTHR13578",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CAAGGTTTTGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4093296","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OTOF",9381,"BI","GRCh38","chr2",26461824,26461824,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5405C>A","p.Ala1802Glu","p.A1802E","ENST00000272371","43/47",159,112,47,208,null,null,"OTOF,missense_variant,p.A1802E,ENST00000272371,NM_194248.3,c.5405C>A,MODERATE,YES,deleterious(0),probably_damaging(0.953),-1;OTOF,missense_variant,p.A1802E,ENST00000403946,NM_001287489.2,c.5405C>A,MODERATE,,deleterious(0),probably_damaging(0.967),-1;OTOF,missense_variant,p.A1055E,ENST00000402415,NM_194322.3,c.3164C>A,MODERATE,,deleterious(0),probably_damaging(0.953),-1;OTOF,missense_variant,p.A1035E,ENST00000338581,NM_004802.4,c.3104C>A,MODERATE,,deleterious(0),probably_damaging(0.924),-1;OTOF,missense_variant,p.A1035E,ENST00000339598,NM_194323.3,c.3104C>A,MODERATE,,deleterious(0),probably_damaging(0.944),-1;OTOF,downstream_gene_variant,,ENST00000464574,,,MODIFIER,,,,-1","T","ENSG00000115155","ENST00000272371","Transcript","missense_variant","missense_variant","5590/7214","5405/5994","1802/1997","A/E","gCg/gAg","COSV55506398",null,-1,"OTOF","HGNC","HGNC:8515","protein_coding","YES","CCDS1725.1","ENSP00000272371","Q9HC10.177",null,"UPI000013D94D","Q9HC10-1","NM_194248.3","NM_194248.3","P4",null,"deleterious(0)","probably_damaging(0.953)","43/47",null,"Gene3D:2.60.40.150;PANTHER:PTHR12546;PANTHER:PTHR12546:SF32;SMART:SM00239;Superfamily:SSF49562;CDD:cd08374",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCTCCGCCGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4093359;COSM4093360;COSM4093361","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLB1",151056,"BI","GRCh38","chr2",28543217,28543217,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.889del","p.Arg297AspfsTer16","p.R297Dfs*16","ENST00000327757","14/58",28,23,5,29,null,null,"PLB1,frameshift_variant,p.R297Dfs*16,ENST00000327757,NM_153021.5,c.889del,HIGH,YES,,,1;PLB1,frameshift_variant,p.R308Dfs*16,ENST00000422425,NM_001170585.1,c.922del,HIGH,,,,1;PLB1,frameshift_variant,p.R307Dfs*16,ENST00000404858,,c.918del,HIGH,,,,1;PLB1,downstream_gene_variant,,ENST00000416713,,,MODIFIER,,,,1","-","ENSG00000163803","ENST00000327757","Transcript","frameshift_variant","frameshift_variant","940/5513","885/4377","295/1458","D/X","gaC/ga",null,null,1,"PLB1","HGNC","HGNC:30041","protein_coding","YES","CCDS33168.1","ENSP00000330442","Q6P1J6.134",null,"UPI0000D6117C","Q6P1J6-1","NM_153021.5","NM_153021.5","P1",{"$nulls":3},"14/58",null,"PANTHER:PTHR21325;PANTHER:PTHR21325:SF51;CDD:cd01824",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"GGAGGACCCCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CRIM1",51232,"BI","GRCh38","chr2",36544401,36544401,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2649T>G","p.Asn883Lys","p.N883K","ENST00000280527","15/17",86,55,31,85,null,null,"CRIM1,missense_variant,p.N883K,ENST00000280527,NM_016441.3,c.2649T>G,MODERATE,YES,tolerated(0.06),probably_damaging(0.986),1;FEZ2,intron_variant,,ENST00000406220,,n.213+7655A>C,MODIFIER,,,,-1","G","ENSG00000150938","ENST00000280527","Transcript","missense_variant","missense_variant","3164/6060","2649/3111","883/1036","N/K","aaT/aaG","COSV54866356",null,1,"CRIM1","HGNC","HGNC:2359","protein_coding","YES","CCDS1783.1","ENSP00000280527","Q9NZV1.157",null,"UPI000004C628",null,"NM_016441.3","NM_016441.3","P1",null,"tolerated(0.06)","probably_damaging(0.986)","15/17",null,"PANTHER:PTHR46439",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACCAATATACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4094021","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SULT6B1",391365,"BI","GRCh38","chr2",37187410,37187410,"+","Frame_Shift_Del","DEL","T","T","-","rs747003550",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.257del","p.Lys86SerfsTer21","p.K86Sfs*21","ENST00000535679","2024-02-07",38,21,16,42,null,null,"SULT6B1,frameshift_variant,p.K86Sfs*21,ENST00000535679,NM_001367551.1,c.257del,HIGH,YES,,,-1;SULT6B1,frameshift_variant,p.K48Sfs*21,ENST00000407963,NM_001032377.2,c.143del,HIGH,,,,-1;SULT6B1,downstream_gene_variant,,ENST00000416345,,,MODIFIER,,,,-1;SULT6B1,downstream_gene_variant,,ENST00000420611,,,MODIFIER,,,,-1;SULT6B1,downstream_gene_variant,,ENST00000433192,,,MODIFIER,,,,-1","-","ENSG00000138068","ENST00000535679","Transcript","frameshift_variant","frameshift_variant","257/1027","257/912","86/303","K/X","aAg/ag","rs747003550",null,-1,"SULT6B1","HGNC","HGNC:33433","protein_coding","YES",null,"ENSP00000444081","Q6IMI4.123",null,"UPI000004127E","Q6IMI4-1","NM_001367551.1",null,"P1",{"$nulls":3},"2024-02-07",null,"PANTHER:PTHR11783;PANTHER:PTHR11783:SF55;Gene3D:3.40.50.300;Pfam:PF00685;Superfamily:SSF52540",{"$nulls":8},"4.086e-05",0,"3.027e-05",0,0,0,"4.479e-05",0,1.361E-4,1.361E-4,"gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,{"$nulls":3},"TTATACTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1407970;COSM4611441","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["NRXN1",9378,"BI","GRCh38","chr2",51027831,51027831,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.443C>T","p.Thr148Met","p.T148M","ENST00000406316","2024-02-22",46,27,19,44,null,null,"NRXN1,missense_variant,p.T148M,ENST00000406316,NM_001330083.1&NM_001330095.1&NM_004801.5,c.443C>T,MODERATE,,tolerated(0.11),benign(0.379),-1;NRXN1,missense_variant,p.T148M,ENST00000401669,NM_001330078.2&NM_001330093.1&NM_001330094.1&NM_001330085.1&NM_001330086.1,c.443C>T,MODERATE,,tolerated(0.11),benign(0.24),-1;NRXN1,missense_variant,p.T148M,ENST00000625672,NM_001330082.1,c.443C>T,MODERATE,,tolerated(0.11),probably_damaging(0.984),-1;NRXN1,missense_variant,p.T148M,ENST00000404971,NM_001135659.2,c.443C>T,MODERATE,YES,tolerated(0.11),benign(0.154),-1;NRXN1,missense_variant,p.T148M,ENST00000675235,,c.443C>T,MODERATE,,deleterious(0.04),probably_damaging(0.923),-1;NRXN1,missense_variant,p.T148M,ENST00000405472,NM_001330096.1&NM_001330087.1&NM_001330084.1&NM_001330088.1,c.443C>T,MODERATE,,tolerated(0.11),probably_damaging(0.999),-1;NRXN1,missense_variant,p.T148M,ENST00000405581,NM_001330081.2,c.443C>T,MODERATE,,deleterious(0.04),probably_damaging(1),-1;NRXN1,missense_variant,p.T148M,ENST00000630543,NM_001330077.1,c.443C>T,MODERATE,,tolerated(0.11),probably_damaging(0.997),-1;NRXN1,missense_variant,p.T148M,ENST00000637511,,c.443C>T,MODERATE,,deleterious(0.04),probably_damaging(0.988),-1;NRXN1,missense_variant,p.T148M,ENST00000628515,,c.443C>T,MODERATE,,tolerated(0.11),probably_damaging(0.999),-1;NRXN1,missense_variant,p.T148M,ENST00000626899,NM_001330079.2,c.443C>T,MODERATE,,deleterious(0.03),probably_damaging(0.911),-1;NRXN1,upstream_gene_variant,,ENST00000496792,NM_001330089.1,,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000627198,,,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000636066,NM_001330090.1,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000635126,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000635310,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000636599,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000637006,,,MODIFIER,,,,-1;NRXN1,upstream_gene_variant,,ENST00000637679,,,MODIFIER,,,,-1;NRXN1,downstream_gene_variant,,ENST00000638060,,,MODIFIER,,,,-1;AC007402.1,upstream_gene_variant,,ENST00000440698,,,MODIFIER,YES,,,1","A","ENSG00000179915","ENST00000406316","Transcript","missense_variant","missense_variant","1945/9375","443/4434","148/1477","T/M","aCg/aTg","COSV68004078",null,-1,"NRXN1","HGNC","HGNC:8008","protein_coding",null,"CCDS54360.1","ENSP00000384311","Q9ULB1.198",null,"UPI0000130A9D","Q9ULB1-1","NM_001330083.1;NM_001330095.1;NM_004801.5",{"$nulls":3},"tolerated(0.11)","benign(0.379)","2024-02-22",null,"Gene3D:2.60.120.200;Pfam:PF02210;PROSITE_profiles:PS50025;PANTHER:PTHR15036;PANTHER:PTHR15036:SF51;SMART:SM00282;Superfamily:SSF49899;CDD:cd00110",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"ACACCGTCATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4094712;COSM4094713;COSM4094714;COSM4094715","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TET3",200424,"BI","GRCh38","chr2",74090027,74090027,"+","Missense_Mutation","SNP","G","G","A","rs754843346",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3019G>A","p.Ala1007Thr","p.A1007T","ENST00000409262","2024-07-11",152,107,45,151,null,null,"TET3,missense_variant,p.A1007T,ENST00000409262,NM_001287491.2,c.3019G>A,MODERATE,YES,tolerated(0.33),benign(0.001),1;TET3,missense_variant,p.A914T,ENST00000305799,NM_001366022.1,c.2740G>A,MODERATE,,tolerated(0.76),benign(0.001),1","A","ENSG00000187605","ENST00000409262","Transcript","missense_variant","missense_variant","3019/11388","3019/5388","1007/1795","A/T","Gca/Aca","rs754843346;COSV69643269;COSV69645136",null,1,"TET3","HGNC","HGNC:28313","protein_coding","YES","CCDS46339.2","ENSP00000386869","O43151.142",null,"UPI0002A87FCB","O43151-1","NM_001287491.2",null,"P1",null,"tolerated(0.33)","benign(0.001)","2024-07-11",null,"Pfam:PF12851;PANTHER:PTHR23358;SMART:SM01333",{"$nulls":8},"2.007e-05","6.462e-05",0,0,0.0002225,0,0,0,0,0.0002225,"gnomAD_EAS","1.3519699677999597e-05","2.4323799152625725e-05",0,0,0,2.01613001991063E-4,0,0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GCCTCGCAGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4095702;COSM4095703","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DOK1",1796,"BI","GRCh38","chr2",74556339,74556340,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.675dup","p.Ser226LeufsTer15","p.S226Lfs*15","ENST00000233668","2024-05-05",224,159,65,195,null,null,"DOK1,frameshift_variant,p.S226Lfs*15,ENST00000233668,NM_001318867.1&NM_001381.4&NM_001318869.1,c.675dup,HIGH,YES,,,1;DOK1,frameshift_variant,p.S87Lfs*15,ENST00000409429,NM_001197260.1&NM_001318866.1,c.258dup,HIGH,,,,1;DOK1,frameshift_variant,p.L164Pfs*76,ENST00000340004,NM_001318868.1,c.490dup,HIGH,,,,1;LOXL3,upstream_gene_variant,,ENST00000264094,NM_032603.5,,MODIFIER,YES,,,-1;M1AP,downstream_gene_variant,,ENST00000290536,NM_001321739.2&NM_138804.4,,MODIFIER,YES,,,-1;LOXL3,upstream_gene_variant,,ENST00000393937,NM_001289164.3&NM_001289165.2,,MODIFIER,,,,-1;LOXL3,upstream_gene_variant,,ENST00000409249,,,MODIFIER,,,,-1;LOXL3,upstream_gene_variant,,ENST00000409549,,,MODIFIER,,,,-1;M1AP,downstream_gene_variant,,ENST00000409585,,,MODIFIER,,,,-1;LOXL3,upstream_gene_variant,,ENST00000409986,,,MODIFIER,,,,-1;LOXL3,upstream_gene_variant,,ENST00000413469,,,MODIFIER,,,,-1;M1AP,downstream_gene_variant,,ENST00000536235,NM_001281296.1&NM_001281295.2,,MODIFIER,,,,-1;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,,n.690dup,MODIFIER,,,,1;DOK1,non_coding_transcript_exon_variant,,ENST00000489958,,n.505dup,MODIFIER,,,,1;DOK1,non_coding_transcript_exon_variant,,ENST00000496966,,n.423dup,MODIFIER,,,,1;M1AP,downstream_gene_variant,,ENST00000464686,,,MODIFIER,,,,-1;DOK1,downstream_gene_variant,,ENST00000475191,,,MODIFIER,,,,1;LOXL3,upstream_gene_variant,,ENST00000484369,,,MODIFIER,,,,-1;DOK1,downstream_gene_variant,,ENST00000485132,,,MODIFIER,,,,1;M1AP,downstream_gene_variant,,ENST00000485997,,,MODIFIER,,,,-1;DOK1,downstream_gene_variant,,ENST00000488613,,,MODIFIER,,,,1;DOK1,3_prime_UTR_variant,,ENST00000429631,,c.*203dup,MODIFIER,,,,1;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,,n.637dup,MODIFIER,,,,1;DOK1,downstream_gene_variant,,ENST00000474924,,,MODIFIER,,,,1;DOK1,downstream_gene_variant,,ENST00000482206,,,MODIFIER,,,,1","C","ENSG00000115325","ENST00000233668","Transcript","frameshift_variant","frameshift_variant","1340-1341/2555","671-672/1446","224/481","C/CX","tgc/tgCc",null,null,1,"DOK1","HGNC","HGNC:2990","protein_coding","YES","CCDS1954.1","ENSP00000233668","Q99704.182",null,"UPI00001296A9","Q99704-1","NM_001318867.1;NM_001381.4;NM_001318869.1",null,"P1",{"$nulls":3},"2024-05-05",null,"PDB-ENSP_mappings:2v76.A;PDB-ENSP_mappings:2v76.B;PDB-ENSP_mappings:2v76.C;PDB-ENSP_mappings:2v76.D;PROSITE_profiles:PS51064;CDD:cd01203;PANTHER:PTHR21258;PANTHER:PTHR21258:SF57;Gene3D:2.30.29.30;Pfam:PF02174;SMART:SM00310;SMART:SM01244;Superfamily:SSF50729",{"$nulls":41},"HIGH",1,"insertion",1,4,null,null,"CCGCTGCCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["HK2",3099,"BI","GRCh38","chr2",74873938,74873938,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.686T>C","p.Ile229Thr","p.I229T","ENST00000290573","2024-06-18",31,25,6,34,null,null,"HK2,missense_variant,p.I229T,ENST00000290573,NM_000189.5,c.686T>C,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;HK2,missense_variant,p.I201T,ENST00000409174,NM_001371525.1,c.602T>C,MODERATE,,deleterious(0),probably_damaging(0.996),1","C","ENSG00000159399","ENST00000290573","Transcript","missense_variant","missense_variant","1140/5626","686/2754","229/917","I/T","aTt/aCt","COSV51876266",null,1,"HK2","HGNC","HGNC:4923","protein_coding","YES","CCDS1956.1","ENSP00000290573","P52789.200",null,"UPI00000706E4",null,"NM_000189.5","NM_000189.5","P1",null,"deleterious(0)","probably_damaging(0.996)","2024-06-18",null,"PDB-ENSP_mappings:2nzt.A;PDB-ENSP_mappings:2nzt.B;PDB-ENSP_mappings:5hex.A;PDB-ENSP_mappings:5hex.B;PDB-ENSP_mappings:5hfu.A;PDB-ENSP_mappings:5hfu.B;PDB-ENSP_mappings:5hg1.A;PROSITE_profiles:PS51748;CDD:cd00012;PANTHER:PTHR19443:SF4;PANTHER:PTHR19443;Pfam:PF03727;Gene3D:3.40.367.20;Gene3D:3.30.420.40;Superfamily:SSF53067",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTCATTGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4095845","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLR1A",25885,"BI","GRCh38","chr2",86049195,86049195,"+","Missense_Mutation","SNP","G","G","A","rs549375944",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2440C>T","p.Arg814Cys","p.R814C","ENST00000263857","17/34",178,116,62,176,null,null,"POLR1A,missense_variant,p.R814C,ENST00000263857,NM_015425.6,c.2440C>T,MODERATE,YES,deleterious(0.01),benign(0.326),-1;POLR1A,missense_variant,p.R814C,ENST00000409681,,c.2440C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.608),-1;POLR1A,downstream_gene_variant,,ENST00000483538,,,MODIFIER,,,,-1","A","ENSG00000068654","ENST00000263857","Transcript","missense_variant","missense_variant","2550/12480","2440/5163","814/1720","R/C","Cgt/Tgt","rs549375944;COSV55694632",null,-1,"POLR1A","HGNC","HGNC:17264","protein_coding","YES","CCDS42706.1","ENSP00000263857","O95602.185",null,"UPI0000D7DB86",null,"NM_015425.6","NM_015425.6","P3",null,"deleterious(0.01)","benign(0.326)","17/34",null,"CDD:cd01435;PANTHER:PTHR19376:SF11;PANTHER:PTHR19376;Gene3D:1.10.132.30;Superfamily:SSF64484",0.0002,0.0008,0,0,0,0,null,null,"1.202e-05",0.0001291,0,0,0,0,0,1.649E-4,0,0.0008,"AFR","2.028480048466008e-05","4.866889867116697e-05",0,0,0,0,0,0,"1.543260077596642e-05",0,0,"4.866889867116697e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GATACGTTGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4096085","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAHD2B",151313,"BI","GRCh38","chr2",97083988,97083988,"+","Frame_Shift_Del","DEL","G","G","-","rs751966944",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.842del","p.Pro281GlnfsTer26","p.P281Qfs*26","ENST00000272610","2024-07-08",21,13,8,19,null,null,"FAHD2B,frameshift_variant,p.P281Qfs*26,ENST00000414820,NM_001320848.2,c.842del,HIGH,YES,,,-1;FAHD2B,frameshift_variant,p.P281Qfs*26,ENST00000272610,NM_199336.3,c.842del,HIGH,,,,-1;FAHD2B,downstream_gene_variant,,ENST00000468548,,,MODIFIER,,,,-1;FAHD2B,non_coding_transcript_exon_variant,,ENST00000463096,,n.1047del,MODIFIER,,,,-1;FAHD2B,non_coding_transcript_exon_variant,,ENST00000474849,,n.410del,MODIFIER,,,,-1;GPAT2P2,downstream_gene_variant,,ENST00000445404,,,MODIFIER,YES,,,1","-","ENSG00000144199","ENST00000272610","Transcript","frameshift_variant","frameshift_variant","1030/1305","842/945","281/314","P/X","cCa/ca","rs751966944",null,-1,"FAHD2B","HGNC","HGNC:25318","protein_coding",null,"CCDS2030.1","ENSP00000272610","Q6P2I3.125",null,"UPI000004D29E",null,"NM_199336.3",null,"P1",{"$nulls":3},"2024-07-08",null,"Gene3D:3.90.850.10;Pfam:PF01557;PANTHER:PTHR42796;PANTHER:PTHR42796:SF3;Superfamily:SSF56529",{"$nulls":8},"3.998e-06",0,0,"9.966e-05",0,0,0,0,0,"9.966e-05","gnomAD_ASJ","1.3533999663195573e-05","2.434270027151797e-05",0,0,0,0,0,0,0,0.000496523978654295,0,{"$nulls":11},"HIGH",null,"deletion",1,{"$nulls":3},"ACACCTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1410120","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TMEM131",23505,"BI","GRCh38","chr2",97888070,97888070,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.341T>C","p.Met114Thr","p.M114T","ENST00000186436","4/41",34,21,13,35,null,null,"TMEM131,start_lost,p.M1?,ENST00000438715,,c.2T>C,HIGH,,deleterious(0.01),possibly_damaging(0.885),-1;TMEM131,missense_variant,p.M114T,ENST00000186436,NM_015348.2,c.341T>C,MODERATE,YES,deleterious(0.02),possibly_damaging(0.885),-1;TMEM131,missense_variant,p.M75T,ENST00000418629,,c.224T>C,MODERATE,,tolerated(0.14),benign(0.113),-1;TMEM131,non_coding_transcript_exon_variant,,ENST00000489507,,n.230T>C,MODIFIER,,,,-1","G","ENSG00000075568","ENST00000186436","Transcript","missense_variant","missense_variant","627/6701","341/5652","114/1883","M/T","aTg/aCg","COSV51778372",null,-1,"TMEM131","HGNC","HGNC:30366","protein_coding","YES","CCDS46368.1","ENSP00000186436","Q92545.140",null,"UPI00006C0498",null,"NM_015348.2","NM_015348.2","P1",null,"deleterious(0.02)","possibly_damaging(0.885)","4/41",null,"Gene3D:2.60.40.10;Pfam:PF12371;PANTHER:PTHR22050;PANTHER:PTHR22050:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CCAGCATTGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4096499;COSM4096500","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MRPS9",64965,"BI","GRCh38","chr2",105092505,105092505,"+","Frame_Shift_Del","DEL","A","A","-","rs1297979087",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.762del","p.Lys254AsnfsTer3","p.K254Nfs*3","ENST00000258455","2024-08-11",89,67,22,94,null,null,"MRPS9,frameshift_variant,p.K254Nfs*3,ENST00000258455,NM_182640.3,c.762del,HIGH,YES,,,1;MRPS9,3_prime_UTR_variant,,ENST00000413583,,c.*178del,MODIFIER,,,,1;MRPS9,non_coding_transcript_exon_variant,,ENST00000472220,,n.414del,MODIFIER,,,,1;MRPS9-AS1,non_coding_transcript_exon_variant,,ENST00000669390,,n.829del,MODIFIER,YES,,,-1;MRPS9-AS1,downstream_gene_variant,,ENST00000432211,,,MODIFIER,,,,-1;MRPS9-AS1,downstream_gene_variant,,ENST00000449177,,,MODIFIER,,,,-1;MRPS9-AS1,downstream_gene_variant,,ENST00000661548,,,MODIFIER,,,,-1","-","ENSG00000135972","ENST00000258455","Transcript","frameshift_variant","frameshift_variant","780/1414","756/1191","252/396","S/X","tcA/tc","rs1297979087",null,1,"MRPS9","HGNC","HGNC:14501","protein_coding","YES","CCDS2065.1","ENSP00000258455","P82933.160",null,"UPI00000467F9",null,"NM_182640.3","NM_182640.3","P1",{"$nulls":3},"2024-08-11",null,"PDB-ENSP_mappings:3j9m.AG;PDB-ENSP_mappings:6nu2.AG;PDB-ENSP_mappings:6nu3.AG;PDB-ENSP_mappings:6rw4.G;PDB-ENSP_mappings:6rw5.G;PANTHER:PTHR21569:SF1;PANTHER:PTHR21569",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,6,null,null,"TGAATCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2981057","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["LCT",3938,"BI","GRCh38","chr2",135809027,135809027,"+","Missense_Mutation","SNP","G","G","A","rs937987859",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3320C>T","p.Thr1107Met","p.T1107M","ENST00000264162","2024-08-17",108,83,25,116,null,null,"LCT,missense_variant,p.T1107M,ENST00000264162,NM_002299.4,c.3320C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;Y_RNA,downstream_gene_variant,,ENST00000363794,,,MODIFIER,YES,,,-1;LCT,missense_variant,p.T539M,ENST00000452974,,c.1616C>T,MODERATE,,deleterious(0),probably_damaging(1),-1","A","ENSG00000115850","ENST00000264162","Transcript","missense_variant","missense_variant","3335/6273","3320/5784","1107/1927","T/M","aCg/aTg","rs937987859;COSV51551568;COSV51559414",null,-1,"LCT","HGNC","HGNC:6530","protein_coding","YES","CCDS2178.1","ENSP00000264162","P09848.190",null,"UPI000013D4D2",null,"NM_002299.4","NM_002299.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-08-17",null,"PANTHER:PTHR10353;PANTHER:PTHR10353:SF38;Pfam:PF00232;Gene3D:3.20.20.80;Superfamily:SSF51445",{"$nulls":19},"2.0282299374230206e-05","7.297850243048742e-05",0,0,0,0,0,0,0,0,0,"7.297850243048742e-05","afr",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"CGTACGTGTGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3116464","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRP1B",53353,"BI","GRCh38","chr2",140373073,140373073,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.10703C>A","p.Ala3568Glu","p.A3568E","ENST00000389484","69/91",129,90,39,118,null,null,"LRP1B,missense_variant,p.A3568E,ENST00000389484,NM_018557.3,c.10703C>A,MODERATE,YES,tolerated(1),benign(0.061),-1","T","ENSG00000168702","ENST00000389484","Transcript","missense_variant","missense_variant","10990/15850","10703/13800","3568/4599","A/E","gCa/gAa","COSV67198999",null,-1,"LRP1B","HGNC","HGNC:6693","protein_coding","YES","CCDS2182.1","ENSP00000374135","Q9NZR2.166",null,"UPI00001B045B",null,"NM_018557.3","NM_018557.3","P1",null,"tolerated(1)","benign(0.061)","69/91",null,"PANTHER:PTHR22722:SF6;PANTHER:PTHR22722;PROSITE_profiles:PS50068;Superfamily:SSF57424;SMART:SM00181;SMART:SM00192;Pfam:PF00057;Gene3D:4.10.400.10;CDD:cd00112",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ATTTTGCTGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1006997","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACVR2A",92,"BI","GRCh38","chr2",147926117,147926117,"+","Frame_Shift_Del","DEL","A","A","-","rs764719749",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1310del","p.Lys437ArgfsTer5","p.K437Rfs*5","ENST00000241416","2024-10-11",104,32,72,112,null,null,"ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000241416,NM_001616.5,c.1310del,HIGH,YES,,,1;ACVR2A,frameshift_variant,p.K329Rfs*5,ENST00000535787,NM_001278580.1,c.986del,HIGH,,,,1;ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000404590,NM_001278579.2,c.1310del,HIGH,,,,1;ORC4,downstream_gene_variant,,ENST00000264169,NM_181742.3,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000392857,NM_181741.4&NM_002552.5,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000535373,NM_001374270.1&NM_001190879.2,,MODIFIER,YES,,,-1;ORC4,downstream_gene_variant,,ENST00000536575,NM_001374272.1&NM_001190881.2,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000540442,NM_001190882.2,,MODIFIER,,,,-1;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,,n.438del,MODIFIER,,,,1","-","ENSG00000121989","ENST00000241416","Transcript","frameshift_variant","frameshift_variant","1427/5214","1303/1542","435/513","K/X","Aaa/aa","rs764719749;COSV104385546",null,1,"ACVR2A","HGNC","HGNC:173","protein_coding","YES","CCDS33301.1","ENSP00000241416","P27037.208",null,"UPI0000126673","P27037-1","NM_001616.5","NM_001616.5","P1",{"$nulls":3},"2024-10-11",null,"PDB-ENSP_mappings:3q4t.A;PDB-ENSP_mappings:3q4t.B;PDB-ENSP_mappings:3soc.A;PDB-ENSP_mappings:3soc.B;PDB-ENSP_mappings:4asx.A;PDB-ENSP_mappings:4asx.B;CDD:cd14141;Pfam:PF00069;Gene3D:1.10.510.10;SMART:SM00220;Superfamily:SSF56112;PROSITE_profiles:PS50011;PANTHER:PTHR23255:SF64;PANTHER:PTHR23255",{"$nulls":8},"1.215e-05",0,"5.946e-05",0,0,0,"8.926e-06",0,0,"5.946e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",1,"GTGCATAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM252949","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["NEB",4703,"BI","GRCh38","chr2",151614427,151614427,"+","Missense_Mutation","SNP","C","C","T","rs776337697",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.10721G>A","p.Ser3574Asn","p.S3574N","ENST00000172853","73/149",361,253,107,371,null,null,"NEB,missense_variant,p.S3817N,ENST00000618972,NM_001271208.2,c.11450G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.993),-1;NEB,missense_variant,p.S3817N,ENST00000397345,NM_001164508.1,c.11450G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.484),-1;NEB,missense_variant,p.S3817N,ENST00000427231,NM_001164507.1,c.11450G>A,MODERATE,,deleterious(0.01),benign(0.079),-1;NEB,missense_variant,p.S3817N,ENST00000603639,,c.11450G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.484),-1;NEB,missense_variant,p.S3817N,ENST00000604864,,c.11450G>A,MODERATE,,deleterious(0.01),benign(0.079),-1;NEB,missense_variant,p.S3574N,ENST00000409198,NM_004543.5,c.10721G>A,MODERATE,,deleterious(0.04),benign(0.351),-1;NEB,missense_variant,p.S3574N,ENST00000172853,,c.10721G>A,MODERATE,,deleterious(0.04),benign(0.363),-1;NEB,downstream_gene_variant,,ENST00000486320,,,MODIFIER,,,,-1","T","ENSG00000183091","ENST00000172853","Transcript","missense_variant","missense_variant","10924/20634","10721/20010","3574/6669","S/N","aGc/aAc","rs776337697;COSV51426871",null,-1,"NEB","HGNC","HGNC:7720","protein_coding",null,null,"ENSP00000172853","P20929.192",null,"UPI0000212787","P20929-1",{"$nulls":4},"deleterious(0.04)","benign(0.363)","73/149",null,"PROSITE_profiles:PS51216;PANTHER:PTHR11039:SF37;PANTHER:PTHR11039;SMART:SM00227",{"$nulls":8},"4.013e-06",0,0,0,0,0,"8.852e-06",0,0,"8.852e-06","gnomAD_NFE",{"$nulls":13},"uncertain_significance","0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",1,"CTGGGCTGCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4085491;COSM4085492;COSM4085493","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NR4A2",4929,"BI","GRCh38","chr2",156329862,156329862,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.325del","p.Gln109SerfsTer5","p.Q109Sfs*5","ENST00000339562","2024-03-08",86,61,25,89,null,null,"NR4A2,frameshift_variant,p.Q109Sfs*5,ENST00000339562,NM_006186.4,c.325del,HIGH,YES,,,-1;NR4A2,frameshift_variant,p.Q109Sfs*5,ENST00000409572,,c.325del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000426264,NM_173173.3,c.136del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q109Sfs*5,ENST00000409108,,c.325del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000429376,,c.136del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q109Sfs*5,ENST00000424077,,c.325del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000421709,,c.136del,HIGH,,,,-1;NR4A2,intron_variant,,ENST00000406048,,c.208+52del,MODIFIER,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000417972,,c.136del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000417764,,c.136del,HIGH,,,,-1;NR4A2,frameshift_variant,p.Q46Sfs*5,ENST00000675870,,c.136del,HIGH,,,,-1","-","ENSG00000153234","ENST00000339562","Transcript","frameshift_variant","frameshift_variant","693/3472","325/1797","109/598","Q/X","Cag/ag",null,null,-1,"NR4A2","HGNC","HGNC:7981","protein_coding","YES","CCDS2201.1","ENSP00000344479","P43354.209","F1D8N6.85","UPI0000036A18","P43354-1","NM_006186.4","NM_006186.4","P1",{"$nulls":3},"2024-03-08",null,"PANTHER:PTHR24085;PANTHER:PTHR24085:SF0;Prints:PR01287",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"CAGACTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1400252;COSM4337070","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SCN7A",6332,"BI","GRCh38","chr2",166413100,166413100,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3436A>G","p.Thr1146Ala","p.T1146A","ENST00000643258","22/26",14,10,4,11,null,null,"SCN7A,missense_variant,p.T1146A,ENST00000643258,NM_002976.4,c.3436A>G,MODERATE,YES,deleterious(0.01),benign(0.192),-1;SCN7A,missense_variant,p.T1146A,ENST00000619410,,c.3436A>G,MODERATE,,deleterious(0.01),benign(0.192),-1;SCN7A,missense_variant,p.T1146A,ENST00000621965,,c.3436A>G,MODERATE,,deleterious(0.01),benign(0.192),-1;SCN7A,missense_variant,p.T1146A,ENST00000441411,,c.3436A>G,MODERATE,,deleterious(0.01),benign(0.192),-1;SCN7A,3_prime_UTR_variant,,ENST00000424326,,c.*1241A>G,MODIFIER,,,,-1;AC074101.1,upstream_gene_variant,,ENST00000637861,,,MODIFIER,YES,,,1","C","ENSG00000136546","ENST00000643258","Transcript","missense_variant","missense_variant","3845/7465","3436/5049","1146/1682","T/A","Act/Gct","COSV69272513",null,-1,"SCN7A","HGNC","HGNC:10594","protein_coding","YES","CCDS46442.1","ENSP00000496114","Q01118.184",null,"UPI0000209019",null,"NM_002976.4","NM_002976.4","P1",null,"deleterious(0.01)","benign(0.192)","22/26",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR10037;PANTHER:PTHR10037:SF14;Pfam:PF00520;Superfamily:SSF81324",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"AATAGTGATCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4086416;COSM4086417","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HOXD8",3234,"BI","GRCh38","chr2",176130689,176130689,"+","Frame_Shift_Del","DEL","C","C","-","rs770632206",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.329del","p.Pro110LeufsTer67","p.P110Lfs*67","ENST00000313173","2024-01-02",76,54,22,82,null,null,"HOXD8,frameshift_variant,p.P110Lfs*67,ENST00000313173,NM_019558.4,c.329del,HIGH,YES,,,1;HOXD8,frameshift_variant,p.P110Lfs*67,ENST00000450510,NM_001199746.2,c.329del,HIGH,,,,1;HOXD8,intron_variant,,ENST00000429017,NM_001199747.2,c.-123-101del,MODIFIER,,,,1;HOXD8,intron_variant,,ENST00000544999,,c.118-101del,MODIFIER,,,,1;HOXD-AS2,intron_variant,,ENST00000440016,,n.497+4630del,MODIFIER,YES,,,-1;HOXD-AS2,downstream_gene_variant,,ENST00000426965,,,MODIFIER,,,,-1;HOXD-AS2,downstream_gene_variant,,ENST00000651440,,,MODIFIER,,,,-1","-","ENSG00000175879","ENST00000313173","Transcript","frameshift_variant","frameshift_variant","985/2618","323/873","108/290","A/X","gCc/gc","rs770632206",null,1,"HOXD8","HGNC","HGNC:5139","protein_coding","YES","CCDS2268.1","ENSP00000315949","P13378.183",null,"UPI000012CF8B","P13378-1","NM_019558.4","NM_019558.4","A2",{"$nulls":3},"2024-01-02",null,"Low_complexity_(Seg):seg;PANTHER:PTHR46166;PANTHER:PTHR46166:SF1",{"$nulls":19},"6.769660103600472e-06",0,0,0,0,0,0,0,"1.5450699720531702e-05",0,0,{"$nulls":11},"HIGH",1,"deletion",2,6,null,null,"AGGCCGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2894581","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TTN",7273,"BI","GRCh38","chr2",178527035,178527035,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.103030A>G","p.Asn34344Asp","p.N34344D","ENST00000591111","313/313",20,11,9,37,null,null,"TTN,missense_variant,p.N35985D,ENST00000589042,NM_001267550.2,c.107953A>G,MODERATE,YES,,benign(0.003),-1;TTN,missense_variant,p.N34344D,ENST00000591111,,c.103030A>G,MODERATE,,,benign(0.003),-1;TTN,missense_variant,p.N33417D,ENST00000342992,NM_133378.4&NM_001256850.1,c.100249A>G,MODERATE,,,benign(0.001),-1;TTN,missense_variant,p.N26920D,ENST00000460472,NM_003319.4,c.80758A>G,MODERATE,,,benign(0.007),-1;TTN,missense_variant,p.N27112D,ENST00000342175,NM_133437.4,c.81334A>G,MODERATE,,,,-1;TTN,missense_variant,p.N27045D,ENST00000359218,NM_133432.3,c.81133A>G,MODERATE,,,benign(0.007),-1;TTN-AS1,intron_variant,,ENST00000419746,,n.219+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000431259,,n.471-1689T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000442329,,n.424+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.413+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585487,,n.260+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585625,,n.680+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000587568,,n.342+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000587576,,n.218-161T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588804,,n.346-1689T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589434,,n.422+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590040,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.412+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592161,,n.422-161T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.345+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000604571,,n.320+2812T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.462-1689T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.219+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.118+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657210,,n.470+3399T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.416+3399T>C,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000664161,,n.424+3399T>C,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000450692,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000585358,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000586452,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000586831,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000587944,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000588244,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000588257,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000588716,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000589355,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000589391,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000589842,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000590807,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000591466,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000591867,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000592182,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000592689,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000592836,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000614124,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000620591,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000625480,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000626117,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000626138,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000626954,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000628296,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000628826,,,MODIFIER,,,,1","C","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","103255/104301","103030/103053","34344/34350","N/D","Aat/Gat","COSV60134776",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.003)","313/313",null,"PDB-ENSP_mappings:2wp3.T;PDB-ENSP_mappings:2wwk.T;PDB-ENSP_mappings:2wwm.D;PDB-ENSP_mappings:2wwm.T;PDB-ENSP_mappings:2y9r.T;PDB-ENSP_mappings:3knb.A;PDB-ENSP_mappings:3q5o.A;PDB-ENSP_mappings:3q5o.B;PDB-ENSP_mappings:4c4k.T;Pfam:PF07679;PROSITE_profiles:PS50835;SMART:SM00409;Superfamily:SSF48726",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"TATATTCACAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4087104;COSM4087105;COSM4087106;COSM4087107","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL3A1",1281,"BI","GRCh38","chr2",188988099,188988099,"+","Missense_Mutation","SNP","G","G","T","rs121912926",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.547G>T","p.Gly183Cys","p.G183C","ENST00000304636","6/51",95,77,18,132,null,null,"COL3A1,missense_variant,p.G183C,ENST00000304636,NM_000090.4,c.547G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;COL3A1,missense_variant,p.G183C,ENST00000317840,,c.547G>T,MODERATE,,deleterious(0),probably_damaging(1),1;COL3A1,upstream_gene_variant,,ENST00000450867,,,MODIFIER,,,,1;COL3A1,downstream_gene_variant,,ENST00000470167,,,MODIFIER,,,,1","T","ENSG00000168542","ENST00000304636","Transcript","missense_variant","missense_variant","664/5490","547/4401","183/1466","G/C","Ggt/Tgt","rs121912926;CM000314;CM1412408;CM970359;COSV58590697",null,1,"COL3A1","HGNC","HGNC:2201","protein_coding","YES","CCDS2297.1","ENSP00000304408","P02461.222",null,"UPI0000456EBA","P02461-1","NM_000090.4","NM_000090.4","P1",null,"deleterious(0)","probably_damaging(1)","6/51",null,"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023:SF604;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":32},"pathogenic","0;0;0;0;1","10706896;9036918;18043893",{"$nulls":6},"MODERATE",1,"SNV",1,null,"1;1;1;1;1",1,"CTCCCGGTCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4089607;COSM4089608","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH7",56171,"BI","GRCh38","chr2",195857597,195857597,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.8194del","p.Ile2732LeufsTer15","p.I2732Lfs*15","ENST00000312428","44/65",83,56,26,90,null,null,"DNAH7,frameshift_variant,p.I2732Lfs*15,ENST00000312428,NM_018897.3,c.8194del,HIGH,YES,,,-1","-","ENSG00000118997","ENST00000312428","Transcript","frameshift_variant","frameshift_variant","8320/12419","8194/12075","2732/4024","I/X","Att/tt",null,null,-1,"DNAH7","HGNC","HGNC:18661","protein_coding","YES","CCDS42794.1","ENSP00000311273","Q8WXX0.143",null,"UPI0000141B95","Q8WXX0-1","NM_018897.3","NM_018897.3","P1",{"$nulls":3},"44/65",null,"Gene3D:1.20.920.20;PDB-ENSP_mappings:6rza.X;Pfam:PF12777;PANTHER:PTHR10676;PANTHER:PTHR10676:SF310",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"CCTCAATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM292742","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["BMPR2",659,"BI","GRCh38","chr2",202530850,202530850,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1028del","p.Asn343MetfsTer14","p.N343Mfs*14","ENST00000374580","2024-08-13",56,48,8,60,null,null,"BMPR2,frameshift_variant,p.N343Mfs*14,ENST00000374580,NM_001204.7,c.1028del,HIGH,YES,,,1;BMPR2,frameshift_variant,p.N343Mfs*14,ENST00000374574,,c.1028del,HIGH,,,,1;BMPR2,frameshift_variant,p.N320Mfs*14,ENST00000638587,,c.959del,HIGH,,,,1","-","ENSG00000204217","ENST00000374580","Transcript","frameshift_variant","frameshift_variant","2172/12068","1024/3117","342/1038","K/X","Aaa/aa",null,null,1,"BMPR2","HGNC","HGNC:1078","protein_coding","YES","CCDS33361.1","ENSP00000363708","Q13873.217",null,"UPI0000126A3B","Q13873-1","NM_001204.7","NM_001204.7","P1",{"$nulls":3},"2024-08-13",null,"Gene3D:1.10.510.10;PDB-ENSP_mappings:3g2f.A;PDB-ENSP_mappings:3g2f.B;Pfam:PF00069;PROSITE_profiles:PS50011;PANTHER:PTHR23255;PANTHER:PTHR23255:SF63;Superfamily:SSF56112;CDD:cd14054",{"$nulls":41},"HIGH",1,"deletion",1,4,null,1,"CTAGTGAAAAAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["BMPR2",659,"BI","GRCh38","chr2",202555407,202555407,"+","Frame_Shift_Del","DEL","A","A","-","rs772920507",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1748del","p.Asn583ThrfsTer44","p.N583Tfs*44","ENST00000374580","2024-12-13",71,54,17,79,null,null,"BMPR2,frameshift_variant,p.N583Tfs*44,ENST00000374580,NM_001204.7,c.1748del,HIGH,YES,,,1;BMPR2,3_prime_UTR_variant,,ENST00000638587,,c.*164del,MODIFIER,,,,1;BMPR2,intron_variant,,ENST00000374574,,c.1586+2525del,MODIFIER,,,,1","-","ENSG00000204217","ENST00000374580","Transcript","frameshift_variant","frameshift_variant","2890/12068","1742/3117","581/1038","E/X","gAa/ga","rs772920507;COSV65808737",null,1,"BMPR2","HGNC","HGNC:1078","protein_coding","YES","CCDS33361.1","ENSP00000363708","Q13873.217",null,"UPI0000126A3B","Q13873-1","NM_001204.7","NM_001204.7","P1",{"$nulls":3},"2024-12-13",null,"PANTHER:PTHR23255;PANTHER:PTHR23255:SF63",{"$nulls":8},"3.977e-06",0,0,0,0,0,"8.793e-06",0,0,"8.793e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,6,"0;1",1,"TAGGGGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1180896","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ICA1L",130026,"BI","GRCh38","chr2",202828899,202828899,"+","Frame_Shift_Del","DEL","T","T","-","rs1330717036",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.111del","p.Glu38ArgfsTer30","p.E38Rfs*30","ENST00000358299","2024-02-13",139,101,38,164,null,null,"ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000617388,NM_001288623.1,c.111del,HIGH,YES,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000392237,NM_138468.6,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000358299,NM_001288622.2,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000425178,NM_001288624.1,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*?,ENST00000421334,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000454326,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000432273,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*?,ENST00000418208,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000412210,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000450143,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000420558,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000419460,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000416760,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000457524,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000411681,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000441547,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000435143,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*30,ENST00000438804,,c.111del,HIGH,,,,-1;ICA1L,frameshift_variant,p.E38Rfs*21,ENST00000437978,,c.111del,HIGH,,,,-1;ICA1L,non_coding_transcript_exon_variant,,ENST00000484561,,n.600del,MODIFIER,,,,-1","-","ENSG00000163596","ENST00000358299","Transcript","frameshift_variant","frameshift_variant","485/3457","111/1449","37/482","K/X","aaA/aa","rs1330717036",null,-1,"ICA1L","HGNC","HGNC:14442","protein_coding",null,"CCDS2354.1","ENSP00000351047","Q8NDH6.124","A0A024R3W3.48","UPI000007263F","Q8NDH6-1","NM_001288622.2",null,"P1",{"$nulls":3},"2024-02-13",null,"Pfam:PF06456;PANTHER:PTHR10164;PANTHER:PTHR10164:SF5;SMART:SM01015",{"$nulls":8},"3.986e-06",0,0,0,0,0,"8.804e-06",0,0,"8.804e-06","gnomAD_NFE","1.3521699656848796e-05",0,0,0,0,0,0,0,"3.086229844484478e-05",0,0,"3.086229844484478e-05","nfe",{"$nulls":9},"HIGH",null,"deletion",2,{"$nulls":3},"ATCCTCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DYTN",391475,"BI","GRCh38","chr2",206707341,206707341,"+","Missense_Mutation","SNP","G","G","A","rs184242013",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.257C>T","p.Pro86Leu","p.P86L","ENST00000452335","2024-03-12",37,17,20,23,null,null,"DYTN,missense_variant,p.P86L,ENST00000452335,NM_001093730.1,c.257C>T,MODERATE,YES,deleterious(0.02),benign(0.183),-1;DYTN,non_coding_transcript_exon_variant,,ENST00000674258,,n.568C>T,MODIFIER,,,,-1;DYTN,missense_variant,p.P55L,ENST00000477734,,c.164C>T,MODERATE,,deleterious(0.03),benign(0.02),-1","A","ENSG00000232125","ENST00000452335","Transcript","missense_variant","missense_variant","374/2051","257/1737","86/578","P/L","cCg/cTg","rs184242013;COSV71752308",null,-1,"DYTN","HGNC","HGNC:23279","protein_coding","YES","CCDS46502.1","ENSP00000396593","A2CJ06.99",null,"UPI0000EE0AB9",null,"NM_001093730.1","NM_001093730.1","P1",null,"deleterious(0.02)","benign(0.183)","2024-03-12",null,"Pfam:PF09068;PANTHER:PTHR12268;PANTHER:PTHR12268:SF18;Superfamily:SSF47473;CDD:cd16243",0.0002,0.0008,0,0,0,0,null,null,"8.111e-06","6.678e-05",0,0,"5.6e-05",0,0,0,0,0.0008,"AFR","6.762879820598755e-06",0,0,"6.629539711866528e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GTTCCGGAGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4090598;COSM4090599","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PIKFYVE",200576,"BI","GRCh38","chr2",208352748,208352748,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5810T>C","p.Met1937Thr","p.M1937T","ENST00000264380","39/42",124,88,36,146,null,null,"PIKFYVE,missense_variant,p.M1937T,ENST00000264380,NM_015040.4,c.5810T>C,MODERATE,YES,deleterious(0),probably_damaging(0.977),1","C","ENSG00000115020","ENST00000264380","Transcript","missense_variant","missense_variant","5980/9908","5810/6297","1937/2098","M/T","aTg/aCg","COSV52243227",null,1,"PIKFYVE","HGNC","HGNC:23785","protein_coding","YES","CCDS2382.1","ENSP00000264380","Q9Y2I7.195",null,"UPI0000366FD6","Q9Y2I7-1","NM_015040.4","NM_015040.4","P1",null,"deleterious(0)","probably_damaging(0.977)","39/42",null,"Gene3D:3.30.800.10;Pfam:PF01504;PROSITE_profiles:PS51455;PANTHER:PTHR46715;SMART:SM00330;Superfamily:SSF56104;CDD:cd17300",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGTCATGGAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4090694","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RUFY4",285180,"BI","GRCh38","chr2",218083235,218083235,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1481G>T","p.Arg494Met","p.R494M","ENST00000344321","2024-09-11",100,72,27,111,null,null,"RUFY4,missense_variant,p.R514M,ENST00000374155,,c.1541G>T,MODERATE,YES,tolerated(0.11),benign(0.017),1;RUFY4,missense_variant,p.R494M,ENST00000344321,NM_198483.3,c.1481G>T,MODERATE,,tolerated(0.12),benign(0.04),1;RUFY4,3_prime_UTR_variant,,ENST00000457754,,c.*855G>T,MODIFIER,,,,1","T","ENSG00000188282","ENST00000344321","Transcript","missense_variant","missense_variant","1591/2352","1481/1716","494/571","R/M","aGg/aTg","COSV60246839;COSV60247994",null,1,"RUFY4","HGNC","HGNC:24804","protein_coding",null,null,"ENSP00000345900","Q6ZNE9.111",null,"UPI0001838867","Q6ZNE9-2","NM_198483.3",null,"P1",null,"tolerated(0.12)","benign(0.04)","2024-09-11",null,"PANTHER:PTHR47732;Superfamily:SSF57903",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"1;1",null,"GAAGAGGCGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4091390;COSM4091391","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATG9A",79065,"BI","GRCh38","chr2",219225442,219225442,"+","Missense_Mutation","SNP","C","C","T","rs766008146",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.343G>A","p.Ala115Thr","p.A115T","ENST00000361242","2024-06-16",120,88,31,134,null,null,"ATG9A,missense_variant,p.A115T,ENST00000409618,,c.343G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000396761,NM_024085.5,c.343G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000361242,NM_001077198.3,c.343G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A54T,ENST00000409422,,c.160G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000436856,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000432520,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000428226,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000457841,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A115T,ENST00000439812,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ATG9A,missense_variant,p.A19T,ENST00000431715,,c.55G>A,MODERATE,,deleterious(0),possibly_damaging(0.602),-1;ANKZF1,upstream_gene_variant,,ENST00000323348,NM_001042410.2&NM_018089.3,,MODIFIER,YES,,,1;ANKZF1,upstream_gene_variant,,ENST00000409849,NM_001282792.2,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000410034,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000416565,,,MODIFIER,,,,1;ATG9A,upstream_gene_variant,,ENST00000429920,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000434939,,,MODIFIER,,,,-1;ANKZF1,upstream_gene_variant,,ENST00000436226,,,MODIFIER,,,,1;ATG9A,downstream_gene_variant,,ENST00000443140,,,MODIFIER,,,,-1;ANKZF1,upstream_gene_variant,,ENST00000447157,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000453432,,,MODIFIER,,,,1;ATG9A,non_coding_transcript_exon_variant,,ENST00000455079,,n.531G>A,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000488833,,,MODIFIER,,,,-1;ATG9A,missense_variant,p.A115T,ENST00000409033,,c.343G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.706),-1;ATG9A,3_prime_UTR_variant,,ENST00000456708,,c.*48G>A,MODIFIER,,,,-1;ATG9A,3_prime_UTR_variant,,ENST00000412355,,c.*48G>A,MODIFIER,,,,-1;ATG9A,non_coding_transcript_exon_variant,,ENST00000466217,,n.484G>A,MODIFIER,,,,-1;ATG9A,non_coding_transcript_exon_variant,,ENST00000486766,,n.552G>A,MODIFIER,,,,-1;ANKZF1,upstream_gene_variant,,ENST00000435521,,,MODIFIER,,,,1;AC068946.2,upstream_gene_variant,,ENST00000446716,,,MODIFIER,YES,,,-1;ANKZF1,upstream_gene_variant,,ENST00000461731,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000463792,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000464763,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000467884,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000474225,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000475202,,,MODIFIER,,,,1;ATG9A,upstream_gene_variant,,ENST00000475339,,,MODIFIER,,,,-1;ANKZF1,upstream_gene_variant,,ENST00000477479,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000486203,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000491181,,,MODIFIER,,,,1;ANKZF1,upstream_gene_variant,,ENST00000496346,,,MODIFIER,,,,1","T","ENSG00000198925","ENST00000361242","Transcript","missense_variant","missense_variant","526/3770","343/2520","115/839","A/T","Gcc/Acc","rs766008146;COSV60133586",null,-1,"ATG9A","HGNC","HGNC:22408","protein_coding",null,"CCDS42820.1","ENSP00000355173","Q7Z3C6.156","A0A024R438.41","UPI0000209615","Q7Z3C6-1","NM_001077198.3","NM_001077198.3","P2",null,"deleterious(0.01)","possibly_damaging(0.602)","2024-06-16",null,"Pfam:PF04109;PANTHER:PTHR13038;PANTHER:PTHR13038:SF13",{"$nulls":8},"4.009e-06",0,0,0,"5.564e-05",0,0,0,0,"5.564e-05","gnomAD_EAS","1.3519499589165207e-05",0,0,0,0,0,0,0,"3.086130163865164e-05",0,0,"3.086130163865164e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"AAAGGCGTCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4091637","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DOCK10",55619,"BI","GRCh38","chr2",224845615,224845615,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2263C>T","p.His755Tyr","p.H755Y","ENST00000258390","20/56",143,107,36,158,null,null,"DOCK10,missense_variant,p.H749Y,ENST00000409592,NM_001290263.2,c.2245C>T,MODERATE,,deleterious(0),possibly_damaging(0.646),-1;DOCK10,missense_variant,p.H755Y,ENST00000258390,NM_014689.3,c.2263C>T,MODERATE,,deleterious(0),possibly_damaging(0.644),-1;DOCK10,missense_variant,p.H768Y,ENST00000645028,NM_001363762.1,c.2302C>T,MODERATE,YES,deleterious(0),benign(0.118),-1;DOCK10,3_prime_UTR_variant,,ENST00000644695,,c.*1805C>T,MODIFIER,,,,-1","A","ENSG00000135905","ENST00000258390","Transcript","missense_variant","missense_variant","2357/7286","2263/6561","755/2186","H/Y","Cat/Tat","COSV51418004",null,-1,"DOCK10","HGNC","HGNC:23479","protein_coding",null,"CCDS46528.1","ENSP00000258390","Q96BY6.166",null,"UPI000021D2A7","Q96BY6-1","NM_014689.3","NM_014689.3",null,null,"deleterious(0)","possibly_damaging(0.644)","20/56",null,"Gene3D:2.60.40.150;Pfam:PF14429;PROSITE_profiles:PS51650;PANTHER:PTHR23317;PANTHER:PTHR23317:SF71;CDD:cd08697",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"CTCATGGAGTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4092008;COSM4092009","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DAW1",164781,"BI","GRCh38","chr2",227921475,227921475,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1127C>T","p.Thr376Ile","p.T376I","ENST00000309931","2024-12-13",123,86,37,104,null,null,"DAW1,missense_variant,p.T376I,ENST00000309931,NM_001330004.1&NM_178821.3,c.1127C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.775),1;DAW1,3_prime_UTR_variant,,ENST00000373666,,c.*233C>T,MODIFIER,,,,1","T","ENSG00000123977","ENST00000309931","Transcript","missense_variant","missense_variant","1186/1683","1127/1248","376/415","T/I","aCt/aTt","COSV59366320",null,1,"DAW1","HGNC","HGNC:26383","protein_coding","YES","CCDS2470.1","ENSP00000311899","Q8N136.143","A0A140VKH6.22","UPI000006EAC6","Q8N136-1","NM_001330004.1;NM_178821.3","NM_178821.3","P1",null,"deleterious(0)","possibly_damaging(0.775)","2024-12-13",null,"Gene3D:2.130.10.10;PDB-ENSP_mappings:5nnz.A;PDB-ENSP_mappings:5nnz.B;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;PANTHER:PTHR44156;PANTHER:PTHR44156:SF1;SMART:SM00320;Superfamily:SSF50978;CDD:cd00200",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCAGACTGGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4092123","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ANKMY1",51281,"BI","GRCh38","chr2",240507668,240507668,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2151G>T","p.Gln717His","p.Q717H","ENST00000272972","2024-12-17",72,51,21,78,null,null,"ANKMY1,missense_variant,p.Q806H,ENST00000401804,NM_001354023.2&NM_001282771.3,c.2418G>T,MODERATE,YES,tolerated(1),benign(0),-1;ANKMY1,missense_variant,p.Q717H,ENST00000272972,NM_001354024.2&NM_016552.5,c.2151G>T,MODERATE,,tolerated(0.99),benign(0.001),-1;ANKMY1,missense_variant,p.Q619H,ENST00000403283,NM_001308375.2,c.1857G>T,MODERATE,,tolerated(1),benign(0),-1;ANKMY1,missense_variant,p.Q493H,ENST00000361678,NM_001354025.2&NM_017844.4,c.1479G>T,MODERATE,,tolerated(1),benign(0),-1;ANKMY1,missense_variant,p.Q478H,ENST00000406958,NM_001282781.2,c.1434G>T,MODERATE,,tolerated(1),benign(0.023),-1;ANKMY1,missense_variant,p.Q147H,ENST00000391988,,c.441G>T,MODERATE,,tolerated(0.88),benign(0),-1;ANKMY1,3_prime_UTR_variant,,ENST00000391987,,c.*1193G>T,MODIFIER,,,,-1;ANKMY1,intron_variant,,ENST00000373318,NM_001282780.2,c.1596+4193G>T,MODIFIER,,,,-1;ANKMY1,non_coding_transcript_exon_variant,,ENST00000489677,,n.142G>T,MODIFIER,,,,-1","A","ENSG00000144504","ENST00000272972","Transcript","missense_variant","missense_variant","2366/3228","2151/2826","717/941","Q/H","caG/caT","COSV56036052",null,-1,"ANKMY1","HGNC","HGNC:20987","protein_coding",null,"CCDS2536.1","ENSP00000272972","Q9P2S6.154",null,"UPI000013D98C","Q9P2S6-1","NM_001354024.2;NM_016552.5",null,"A2",null,"tolerated(0.99)","benign(0.001)","2024-12-17",null,"Pfam:PF12796;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;PANTHER:PTHR15897;SMART:SM00248;Superfamily:SSF48403",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GCTCCCTGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4092837;COSM4092838","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SNED1",25992,"BI","GRCh38","chr2",241033760,241033760,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.527T>C","p.Ile176Thr","p.I176T","ENST00000310397","3/32",26,17,8,26,null,null,"SNED1,missense_variant,p.I176T,ENST00000310397,NM_001080437.3,c.527T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;SNED1,missense_variant,p.I176T,ENST00000405547,,c.527T>C,MODERATE,,deleterious(0),probably_damaging(0.941),1;SNED1,missense_variant,p.I176T,ENST00000401884,,c.527T>C,MODERATE,,deleterious(0),probably_damaging(0.981),1;SNED1,upstream_gene_variant,,ENST00000401644,,,MODIFIER,,,,1;SNED1,upstream_gene_variant,,ENST00000431690,,,MODIFIER,,,,1;SNED1,upstream_gene_variant,,ENST00000493358,,,MODIFIER,,,,1;SNED1-AS1,intron_variant,,ENST00000458377,,n.38-157A>G,MODIFIER,YES,,,-1","C","ENSG00000162804","ENST00000310397","Transcript","missense_variant","missense_variant","747/8394","527/4242","176/1413","I/T","aTc/aCc","COSV60026041",null,1,"SNED1","HGNC","HGNC:24696","protein_coding","YES","CCDS46562.1","ENSP00000308893","Q8TER0.143",null,"UPI0000DD7AB0","Q8TER0-1","NM_001080437.3","NM_001080437.3","P2",null,"deleterious(0)","probably_damaging(1)","3/32",null,"Pfam:PF06119;PROSITE_profiles:PS51220;PANTHER:PTHR24044;PANTHER:PTHR24044:SF411;SMART:SM00539",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GCTCATCACAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4092941;COSM4092942","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NEU4",129807,"BI","GRCh38","chr2",241814574,241814575,"+","Frame_Shift_Ins","INS","-","-","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.96dup","p.Gly33ArgfsTer15","p.G33Rfs*15","ENST00000391969","2024-03-05",47,36,11,44,null,null,"NEU4,frameshift_variant,p.G33Rfs*15,ENST00000391969,NM_001167602.3,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G45Rfs*15,ENST00000404257,NM_080741.4,c.132dup,HIGH,,,,1;NEU4,frameshift_variant,p.G46Rfs*15,ENST00000325935,NM_001167599.3,c.135dup,HIGH,YES,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000405370,,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000407683,NM_001167601.3&NM_001167600.3,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000415936,,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000420288,,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000423583,,c.96dup,HIGH,,,,1;NEU4,frameshift_variant,p.G45Rfs*15,ENST00000426032,,c.132dup,HIGH,,,,1;NEU4,frameshift_variant,p.G74Rfs*15,ENST00000428592,,c.219dup,HIGH,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000435894,,c.96dup,HIGH,,,,1;NEU4,downstream_gene_variant,,ENST00000435934,,,MODIFIER,,,,1;NEU4,frameshift_variant,p.G33Rfs*15,ENST00000435855,,c.96dup,HIGH,,,,1;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,,n.184dup,MODIFIER,,,,1;NEU4,non_coding_transcript_exon_variant,,ENST00000488997,,n.139dup,MODIFIER,,,,1;NEU4,non_coding_transcript_exon_variant,,ENST00000476542,,n.184dup,MODIFIER,,,,1;NEU4,downstream_gene_variant,,ENST00000494678,,,MODIFIER,,,,1;AC131097.2,upstream_gene_variant,,ENST00000413820,,,MODIFIER,YES,,,-1;AC131097.2,upstream_gene_variant,,ENST00000420272,,,MODIFIER,,,,-1;AC131097.2,upstream_gene_variant,,ENST00000439270,,,MODIFIER,,,,-1","C","ENSG00000204099","ENST00000391969","Transcript","frameshift_variant","frameshift_variant","801-802/2526","90-91/1455","30-31/484","-/X","-/C",null,null,1,"NEU4","HGNC","HGNC:21328","protein_coding",null,"CCDS54442.1","ENSP00000375830","Q8WWR8.159","B3KR54.96","UPI000004FAD3","Q8WWR8-1","NM_001167602.3",null,"P4",{"$nulls":3},"2024-03-05",null,"Gene3D:2.120.10.10;PANTHER:PTHR10628;PANTHER:PTHR10628:SF22;Superfamily:SSF50939;CDD:cd15482",{"$nulls":41},"HIGH",null,"insertion",2,6,null,null,"CCCGTGCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1291479","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["IL5RA",3568,"BI","GRCh38","chr3",3092354,3092354,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.864del","p.Lys288AsnfsTer2","p.K288Nfs*2","ENST00000256452","2024-10-13",108,76,32,101,null,null,"IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000446632,NM_175726.4&NM_000564.4,c.864del,HIGH,YES,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000438560,NM_001243099.1,c.864del,HIGH,,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000256452,,c.864del,HIGH,,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000383846,NM_175728.2,c.864del,HIGH,,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000430514,NM_175724.2,c.864del,HIGH,,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000456302,NM_175727.2,c.864del,HIGH,,,,-1;IL5RA,frameshift_variant,p.K288Nfs*2,ENST00000311981,NM_175725.2,c.864del,HIGH,,,,-1;IL5RA,intron_variant,,ENST00000418488,,c.709+5516del,MODIFIER,,,,-1","-","ENSG00000091181","ENST00000256452","Transcript","frameshift_variant","frameshift_variant","1114/2001","864/1263","288/420","K/X","aaA/aa",null,null,-1,"IL5RA","HGNC","HGNC:6017","protein_coding",null,"CCDS2559.1","ENSP00000256452","Q01344.195","A0A024R2E8.3","UPI000013C656","Q01344-1",null,null,"P2",{"$nulls":3},"2024-10-13",null,"PDB-ENSP_mappings:3qt2.A;PDB-ENSP_mappings:3qt2.B;PDB-ENSP_mappings:3va2.C;PDB-ENSP_mappings:6h41.A;PROSITE_profiles:PS50853;PANTHER:PTHR23036:SF17;PANTHER:PTHR23036;Gene3D:2.60.40.10;Superfamily:SSF49265",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"CATCAATTTTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["C3orf20",84077,"BI","GRCh38","chr3",14682937,14682937,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.229del","p.Leu77TrpfsTer15","p.L77Wfs*15","ENST00000253697","2024-03-17",80,70,10,72,null,null,"C3orf20,frameshift_variant,p.L77Wfs*15,ENST00000253697,NM_032137.5,c.229del,HIGH,YES,,,1;C3orf20,intron_variant,,ENST00000412910,NM_001184957.2,c.-105-33del,MODIFIER,,,,1;C3orf20,intron_variant,,ENST00000435614,NM_001184958.2,c.-105-33del,MODIFIER,,,,1","-","ENSG00000131379","ENST00000253697","Transcript","frameshift_variant","frameshift_variant","634/3286","224/2715","75/904","A/X","gCc/gc",null,null,1,"C3orf20","HGNC","HGNC:25320","protein_coding","YES","CCDS33706.1","ENSP00000253697","Q8ND61.127",null,"UPI000013CDE9","Q8ND61-1","NM_032137.5","NM_032137.5","P4",{"$nulls":3},"2024-03-17",null,"PANTHER:PTHR23093;PANTHER:PTHR23093:SF16",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"TTGGAGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TRAK1",22906,"BI","GRCh38","chr3",42202663,42202663,"+","Missense_Mutation","SNP","G","G","A","rs149693845",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1655G>A","p.Arg552His","p.R552H","ENST00000327628","13/16",99,66,33,116,null,null,"TRAK1,missense_variant,p.R448H,ENST00000487159,NM_001349245.1&NM_001349249.1&NM_001349248.1,c.1343G>A,MODERATE,,tolerated(0.15),benign(0.051),1;TRAK1,missense_variant,p.R552H,ENST00000327628,NM_001349247.2&NM_001042646.3&NM_001349246.2&NM_001265608.2,c.1655G>A,MODERATE,,tolerated(0.14),benign(0.051),1;TRAK1,missense_variant,p.R494H,ENST00000396175,,c.1481G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.86),1;TRAK1,missense_variant,p.R448H,ENST00000672026,,c.1343G>A,MODERATE,,tolerated(0.11),possibly_damaging(0.664),1;TRAK1,missense_variant,p.R478H,ENST00000613405,NM_001265609.1,c.1433G>A,MODERATE,,tolerated(0.15),probably_damaging(0.944),1;TRAK1,missense_variant,p.R494H,ENST00000341421,NM_014965.5,c.1481G>A,MODERATE,,tolerated(0.17),probably_damaging(0.944),1;TRAK1,missense_variant,p.R580H,ENST00000673621,,c.1739G>A,MODERATE,YES,tolerated(0.14),benign(0.111),1;TRAK1,missense_variant,p.R478H,ENST00000449246,NM_001265610.1,c.1433G>A,MODERATE,,tolerated(0.23),possibly_damaging(0.684),1;TRAK1,missense_variant,p.R448H,ENST00000484786,,c.1343G>A,MODERATE,,tolerated(0.11),possibly_damaging(0.684),1;TRAK1,missense_variant,p.R270H,ENST00000427771,,c.809G>A,MODERATE,,tolerated(0.15),possibly_damaging(0.828),1","A","ENSG00000182606","ENST00000327628","Transcript","missense_variant","missense_variant","1768/5128","1655/2862","552/953","R/H","cGc/cAc","rs149693845",null,1,"TRAK1","HGNC","HGNC:29947","protein_coding",null,"CCDS43072.1","ENSP00000328998","Q9UPV9.159",null,"UPI0000139F52","Q9UPV9-1","NM_001349247.2;NM_001042646.3;NM_001349246.2;NM_001265608.2","NM_001042646.3","P1",null,"tolerated(0.14)","benign(0.051)","13/16",null,"Pfam:PF12448;PANTHER:PTHR15751;PANTHER:PTHR15751:SF11",{"$nulls":6},0,0.0001163,"1.995e-05",0,1.158E-4,0,0,0,"8.838e-06",0,0,0.0001163,"EA","6.762239991076058e-06",0,0,0,0,0.000202020004508085,0,0,0,0,0,{"$nulls":11},"MODERATE",null,"SNV",1,null,null,1,"CTCCCGCTTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4117586;COSM4117587;COSM4117588","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NKTR",4820,"BI","GRCh38","chr3",42637994,42637994,"+","Frame_Shift_Del","DEL","A","A","-","rs767007251",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2297del","p.Asn766IlefsTer30","p.N766Ifs*30","ENST00000232978","13/17",90,60,30,82,null,null,"NKTR,frameshift_variant,p.N466Ifs*30,ENST00000617821,NM_001349125.2&NM_001349126.2,c.1397del,HIGH,,,,1;NKTR,frameshift_variant,p.N766Ifs*30,ENST00000232978,NM_001349124.2&NM_005385.4,c.2297del,HIGH,YES,,,1;NKTR,3_prime_UTR_variant,,ENST00000429888,,c.*2035del,MODIFIER,,,,1;NKTR,non_coding_transcript_exon_variant,,ENST00000468735,,n.7739del,MODIFIER,,,,1;NKTR,non_coding_transcript_exon_variant,,ENST00000465584,,n.3621del,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000460807,,,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000464315,,,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000472127,,,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000472258,,,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000498730,,,MODIFIER,,,,1;NKTR,downstream_gene_variant,,ENST00000508351,,,MODIFIER,,,,1;AC006059.1,intron_variant,,ENST00000434363,,n.334-5299del,MODIFIER,,,,-1;AC006059.1,intron_variant,,ENST00000438017,,n.396-5299del,MODIFIER,,,,-1;AC006059.1,intron_variant,,ENST00000445452,,n.395+16000del,MODIFIER,,,,-1;AC006059.1,intron_variant,,ENST00000653434,,n.59-14182del,MODIFIER,YES,,,-1;AC006059.1,intron_variant,,ENST00000668806,,n.164-5299del,MODIFIER,,,,-1","-","ENSG00000114857","ENST00000232978","Transcript","frameshift_variant","frameshift_variant","2406/7265","2290/4389","764/1462","K/X","Aaa/aa","rs767007251",null,1,"NKTR","HGNC","HGNC:7833","protein_coding","YES","CCDS2702.1","ENSP00000232978","P30414.169",null,"UPI00001301FD",null,"NM_001349124.2;NM_005385.4","NM_005385.4","P1",{"$nulls":3},"13/17",null,"MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"1.215e-05",0.0001244,0,0,0,0,"8.941e-06",0,0,0.0001244,"gnomAD_AFR","6.7736000346485525e-06",0,0,0,0,0,0,0,"1.544740007375367e-05",0,0,{"$nulls":11},"HIGH",1,"deletion",1,7,null,null,"AGTGGGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1423117","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SETD2",29072,"BI","GRCh38","chr3",47120416,47120417,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4219dup","p.Arg1407LysfsTer8","p.R1407Kfs*8","ENST00000409792","2024-03-21",38,27,11,46,null,null,"SETD2,frameshift_variant,p.R1407Kfs*8,ENST00000409792,NM_001349370.2&NM_014159.7,c.4219dup,HIGH,YES,,,-1;SETD2,5_prime_UTR_variant,,ENST00000638947,,c.-132dup,MODIFIER,,,,-1;SETD2,downstream_gene_variant,,ENST00000412450,,,MODIFIER,,,,-1;SETD2,frameshift_variant,p.R1279Kfs*8,ENST00000330022,,c.3834dup,HIGH,,,,-1;SETD2,frameshift_variant,p.R1125Kfs*8,ENST00000431180,,c.3371dup,HIGH,,,,-1;SETD2,frameshift_variant,p.R1041Kfs*8,ENST00000445387,,c.3119dup,HIGH,,,,-1","T","ENSG00000181555","ENST00000409792","Transcript","frameshift_variant","frameshift_variant","4408-4409/8541","4219-4220/7695","1407/2564","R/KX","agg/aAgg",null,null,-1,"SETD2","HGNC","HGNC:18420","protein_coding","YES","CCDS2749.2","ENSP00000386759","Q9BYW2.172",null,"UPI00017E10FB","Q9BYW2-1","NM_001349370.2;NM_014159.7","NM_014159.7","P1",{"$nulls":3},"2024-03-21",null,"PANTHER:PTHR46711;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"insertion",5,null,null,1,"GCCTCCTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["KLHL18",23276,"BI","GRCh38","chr3",47343933,47343933,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1717A>G","p.Thr573Ala","p.T573A","ENST00000232766","2024-10-10",127,81,46,123,null,null,"KLHL18,missense_variant,p.T573A,ENST00000232766,NM_025010.5,c.1717A>G,MODERATE,YES,deleterious_low_confidence(0.04),benign(0),1;AC104447.1,upstream_gene_variant,,ENST00000624214,,,MODIFIER,YES,,,1;KLHL18,3_prime_UTR_variant,,ENST00000442272,,c.*1406A>G,MODIFIER,,,,1","G","ENSG00000114648","ENST00000232766","Transcript","missense_variant","missense_variant","1739/4622","1717/1725","573/574","T/A","Acc/Gcc","COSV51746443",null,1,"KLHL18","HGNC","HGNC:29120","protein_coding","YES","CCDS33749.1","ENSP00000232766","O94889.159","A0A024R2T4.45","UPI00004703A5","O94889-1","NM_025010.5","NM_025010.5","P1",null,"deleterious_low_confidence(0.04)","benign(0)","2024-10-10",null,"PIRSF:PIRSF037037",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCCTCACCATC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4118043","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PTPN23",25930,"BI","GRCh38","chr3",47411861,47411861,"+","Missense_Mutation","SNP","G","G","A","rs778612238",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3967G>A","p.Val1323Ile","p.V1323I","ENST00000265562","21/25",95,67,28,92,null,null,"PTPN23,missense_variant,p.V1323I,ENST00000265562,NM_015466.4&NM_001304482.2,c.3967G>A,MODERATE,YES,tolerated(0.33),benign(0.001),1;SCAP,downstream_gene_variant,,ENST00000265565,NM_001320044.2&NM_012235.4,,MODIFIER,YES,,,-1;SCAP,downstream_gene_variant,,ENST00000428413,,,MODIFIER,,,,-1;SCAP,downstream_gene_variant,,ENST00000545718,,,MODIFIER,,,,-1;SCAP,downstream_gene_variant,,ENST00000648151,,,MODIFIER,,,,-1;PTPN23,3_prime_UTR_variant,,ENST00000602307,,c.*3644G>A,MODIFIER,,,,1;SCAP,downstream_gene_variant,,ENST00000320017,,,MODIFIER,,,,-1;SCAP,downstream_gene_variant,,ENST00000441517,,,MODIFIER,,,,-1;PTPN23,downstream_gene_variant,,ENST00000495653,,,MODIFIER,,,,1","A","ENSG00000076201","ENST00000265562","Transcript","missense_variant","missense_variant","4043/5237","3967/4911","1323/1636","V/I","Gtc/Atc","rs778612238;COSV55545470;COSV55549752",null,1,"PTPN23","HGNC","HGNC:14406","protein_coding","YES","CCDS2754.1","ENSP00000265562","Q9H3S7.166",null,"UPI000006EBC4",null,"NM_015466.4;NM_001304482.2","NM_015466.4","P1",null,"tolerated(0.33)","benign(0.001)","21/25",null,"CDD:cd14539;Gene3D:3.90.190.10;Pfam:PF00102;SMART:SM00194;Superfamily:SSF52799;PROSITE_profiles:PS50055",{"$nulls":8},"4.389e-05",0,"8.678e-05",0,0,0,"5.309e-05",0.0001633,"3.267e-05",0.0001633,"gnomAD_OTH",1.01632002042606E-4,0,0,0.000464807002572342,0,0,0,0,"7.721049769315869e-05",0.000990099040791392,0.000208854995435103,0.000990099040791392,"oth",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GCAGCGTCCGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4118059","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMARCC1",6599,"BI","GRCh38","chr3",47610252,47610252,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2857C>T","p.Arg953Ter","p.R953*","ENST00000254480","26/28",302,284,18,266,null,null,"SMARCC1,stop_gained,p.R953*,ENST00000254480,NM_003074.4,c.2857C>T,HIGH,YES,,,-1;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,,n.2747C>T,MODIFIER,,,,-1;SMARCC1,non_coding_transcript_exon_variant,,ENST00000492896,,n.350C>T,MODIFIER,,,,-1","A","ENSG00000173473","ENST00000254480","Transcript","stop_gained","stop_gained","2953/6354","2857/3318","953/1105","R/*","Cga/Tga","COSV54379396",null,-1,"SMARCC1","HGNC","HGNC:11104","protein_coding","YES","CCDS2758.1","ENSP00000254480","Q92922.201",null,"UPI000013CE3B",null,"NM_003074.4","NM_003074.4","P1",{"$nulls":3},"26/28",null,"PANTHER:PTHR12802;PANTHER:PTHR12802:SF9",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"TGCTCGTAATT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4118094","N","Unknown",{"$nulls":3},"muse;mutect2"]
["IP6K1",9807,"BI","GRCh38","chr3",49738305,49738305,"+","Missense_Mutation","SNP","C","C","T","rs745434505",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.341G>A","p.Arg114Gln","p.R114Q","ENST00000321599","2024-03-06",84,60,24,80,null,null,"IP6K1,missense_variant,p.R114Q,ENST00000613416,NM_001242829.1,c.341G>A,MODERATE,YES,tolerated(0.67),benign(0.271),-1;IP6K1,missense_variant,p.R114Q,ENST00000321599,NM_153273.4,c.341G>A,MODERATE,,tolerated(0.67),benign(0.271),-1;IP6K1,missense_variant,p.R114Q,ENST00000468463,,c.341G>A,MODERATE,,tolerated(0.35),probably_damaging(0.953),-1;IP6K1,5_prime_UTR_variant,,ENST00000395238,NM_001006115.2,c.-155G>A,MODIFIER,,,,-1;IP6K1,5_prime_UTR_variant,,ENST00000460540,,c.-155G>A,MODIFIER,,,,-1;IP6K1,non_coding_transcript_exon_variant,,ENST00000479464,,n.529G>A,MODIFIER,,,,-1","T","ENSG00000176095","ENST00000321599","Transcript","missense_variant","missense_variant","658/4471","341/1326","114/441","R/Q","cGg/cAg","rs745434505;COSV58664028",null,-1,"IP6K1","HGNC","HGNC:18360","protein_coding",null,"CCDS33760.1","ENSP00000323780","Q92551.156","A0A024R2X2.45","UPI0000163944","Q92551-1","NM_153273.4","NM_153273.4","P1",null,"tolerated(0.67)","benign(0.271)","2024-03-06",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR12400:SF73;PANTHER:PTHR12400;Superfamily:SSF56104",{"$nulls":8},"3.977e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TGCGCCGAGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4118597","N","Unknown",{"$nulls":3},"muse;varscan2"]
["DOCK3",1795,"BI","GRCh38","chr3",51380173,51380173,"+","Frame_Shift_Del","DEL","C","C","-","rs782552436",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5555del","p.Pro1852GlnfsTer45","p.P1852Qfs*45","ENST00000266037","52/53",50,41,9,58,null,null,"DOCK3,frameshift_variant,p.P1852Qfs*45,ENST00000266037,NM_004947.5,c.5555del,HIGH,YES,,,1","-","ENSG00000088538","ENST00000266037","Transcript","frameshift_variant","frameshift_variant","5886/9069","5549/6093","1850/2030","T/X","aCc/ac","rs782552436",null,1,"DOCK3","HGNC","HGNC:2989","protein_coding","YES","CCDS46835.1","ENSP00000266037","Q8IZD9.145",null,"UPI000007412C",null,"NM_004947.5","NM_004947.5","P1",{"$nulls":3},"52/53",null,"PANTHER:PTHR45653;PANTHER:PTHR45653:SF4",{"$nulls":8},"2.03e-05",0,"2.94e-05",0,"5.615e-05","4.719e-05","1.79e-05",0,0,"5.615e-05","gnomAD_EAS",{"$nulls":22},"HIGH",1,"deletion",1,6,null,1,"GTGATACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM269054;COSM2851820","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DNAH1",25981,"BI","GRCh38","chr3",52392892,52392892,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.10341A>G","p.Ile3447Met","p.I3447M","ENST00000420323","65/78",208,169,38,236,null,null,"DNAH1,missense_variant,p.I3447M,ENST00000420323,NM_015512.5,c.10341A>G,MODERATE,YES,tolerated(0.08),benign(0.062),1;DNAH1,downstream_gene_variant,,ENST00000480649,,,MODIFIER,,,,1;DNAH1,missense_variant,p.I347M,ENST00000490713,,c.1041A>G,MODERATE,,tolerated(0.12),benign(0.125),1;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,,n.10798A>G,MODIFIER,,,,1;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,,n.2127A>G,MODIFIER,,,,1;DNAH1,upstream_gene_variant,,ENST00000487254,,,MODIFIER,,,,1","G","ENSG00000114841","ENST00000420323","Transcript","missense_variant","missense_variant","10602/13104","10341/12798","3447/4265","I/M","atA/atG","COSV70230383",null,1,"DNAH1","HGNC","HGNC:2940","protein_coding","YES","CCDS46842.1","ENSP00000401514","Q9P2D7.145","A0A140VJI6.29","UPI00017EE9F6",null,"NM_015512.5",null,"P1",null,"tolerated(0.08)","benign(0.062)","65/78",null,"PANTHER:PTHR10676;PANTHER:PTHR10676:SF358;Gene3D:1.10.8.1220",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TACATACCCGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119035;COSM4119036","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NISCH",11188,"BI","GRCh38","chr3",52478125,52478125,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1016T>C","p.Leu339Pro","p.L339P","ENST00000345716","2024-10-21",102,75,27,122,null,null,"NISCH,missense_variant,p.L339P,ENST00000479054,,c.1016T>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;NISCH,missense_variant,p.L339P,ENST00000345716,NM_007184.4,c.1016T>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;NISCH,missense_variant,p.L339P,ENST00000488380,NM_001276293.2,c.1016T>C,MODERATE,,deleterious(0),probably_damaging(1),1;NISCH,missense_variant,p.L339P,ENST00000420808,NM_001276294.2,c.1016T>C,MODERATE,,deleterious(0),probably_damaging(1),1;NISCH,non_coding_transcript_exon_variant,,ENST00000464280,,n.541T>C,MODIFIER,,,,1;NISCH,downstream_gene_variant,,ENST00000490425,,,MODIFIER,,,,1;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,,n.1263T>C,MODIFIER,,,,1;NISCH,non_coding_transcript_exon_variant,,ENST00000481211,,n.400T>C,MODIFIER,,,,1;NISCH,upstream_gene_variant,,ENST00000474188,,,MODIFIER,,,,1;NISCH,upstream_gene_variant,,ENST00000485765,,,MODIFIER,,,,1","C","ENSG00000010322","ENST00000345716","Transcript","missense_variant","missense_variant","1054/5139","1016/4515","339/1504","L/P","cTg/cCg","COSV61900695",null,1,"NISCH","HGNC","HGNC:18006","protein_coding",null,"CCDS33767.1","ENSP00000339958","Q9Y2I1.148",null,"UPI000036715D","Q9Y2I1-1","NM_007184.4","NM_007184.4","P3",null,"deleterious(0)","probably_damaging(0.999)","2024-10-21",null,"PROSITE_profiles:PS51450;PANTHER:PTHR15454:SF35;PANTHER:PTHR15454;Gene3D:3.80.10.10;SMART:SM00365;Superfamily:SSF52075",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GGACCTGTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119088;COSM4119089","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STAB1",23166,"BI","GRCh38","chr3",52517338,52517338,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4508T>C","p.Ile1503Thr","p.I1503T","ENST00000321725","43/69",74,54,20,76,null,null,"STAB1,missense_variant,p.I1503T,ENST00000321725,NM_015136.3,c.4508T>C,MODERATE,YES,tolerated(0.47),benign(0.079),1;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,,n.747T>C,MODIFIER,,,,1;STAB1,upstream_gene_variant,,ENST00000462681,,,MODIFIER,,,,1;STAB1,upstream_gene_variant,,ENST00000462741,,,MODIFIER,,,,1;STAB1,upstream_gene_variant,,ENST00000481626,,,MODIFIER,,,,1","C","ENSG00000010327","ENST00000321725","Transcript","missense_variant","missense_variant","4584/7928","4508/7713","1503/2570","I/T","aTc/aCc","COSV58738137",null,1,"STAB1","HGNC","HGNC:18628","protein_coding","YES","CCDS33768.1","ENSP00000312946","Q9NY15.175",null,"UPI0000140C12",null,"NM_015136.3","NM_015136.3","P1",null,"tolerated(0.47)","benign(0.079)","43/69",null,"Gene3D:2.10.25.10;Pfam:PF12947;PROSITE_profiles:PS50026;PANTHER:PTHR24038;PANTHER:PTHR24038:SF8;SMART:SM00179;SMART:SM00181;Superfamily:SSF82153",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTCATCCACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119112","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CACNA1D",776,"BI","GRCh38","chr3",53751788,53751788,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3556C>T","p.Arg1186Trp","p.R1186W","ENST00000350061","28/48",185,132,53,235,null,null,"CACNA1D,missense_variant,p.R1206W,ENST00000288139,NM_000720.4,c.3616C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;CACNA1D,missense_variant,p.R1186W,ENST00000350061,NM_001128840.3,c.3556C>T,MODERATE,,deleterious(0),possibly_damaging(0.899),1;CACNA1D,missense_variant,p.R1186W,ENST00000422281,NM_001128839.3,c.3556C>T,MODERATE,,deleterious(0),probably_damaging(0.987),1;CACNA1D,missense_variant,p.R1186W,ENST00000636938,,c.3556C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.958),1;CACNA1D,missense_variant,p.R1210W,ENST00000637424,,c.3628C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;CACNA1D,missense_variant,p.R1186W,ENST00000636570,,c.3556C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CACNA1D,missense_variant,p.R1197W,ENST00000640483,,c.3589C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;CACNA1D,missense_variant,p.R879W,ENST00000481478,,c.2635C>T,MODERATE,,deleterious(0),probably_damaging(0.959),1;CACNA1D,missense_variant,p.R953W,ENST00000636627,,c.2857C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),1;CACNA1D,missense_variant,p.R249W,ENST00000645528,,c.745C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(1),1;CACNA1D,missense_variant,p.R44W,ENST00000638120,,c.130C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.84),1;CACNA1D,missense_variant,p.R147W,ENST00000636723,,c.439C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;CACNA1D,missense_variant,p.R46W,ENST00000638129,,c.136C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;CACNA1D,upstream_gene_variant,,ENST00000637081,,,MODIFIER,,,,1;CACNA1D,upstream_gene_variant,,ENST00000636448,,,MODIFIER,,,,1","T","ENSG00000157388","ENST00000350061","Transcript","missense_variant","missense_variant","4112/9369","3556/6486","1186/2161","R/W","Cgg/Tgg","COSV55451901",null,1,"CACNA1D","HGNC","HGNC:1391","protein_coding",null,"CCDS46848.1","ENSP00000288133","Q01668.202",null,"UPI000013DEF4","Q01668-1","NM_001128840.3","NM_001128840.3","A2",null,"deleterious(0)","possibly_damaging(0.899)","28/48",null,"PANTHER:PTHR45628;PANTHER:PTHR45628:SF11",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CCTTGCGGAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119332;COSM4119333","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRIG1",26018,"BI","GRCh38","chr3",66384063,66384063,"+","Missense_Mutation","SNP","C","C","T","rs548930200",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1999G>A","p.Ala667Thr","p.A667T","ENST00000273261","14/19",79,58,21,73,null,null,"LRIG1,missense_variant,p.A667T,ENST00000273261,NM_001377345.1&NM_001377344.1&NM_015541.3&NM_001377346.1,c.1999G>A,MODERATE,YES,tolerated(0.1),benign(0.007),-1;LRIG1,intron_variant,,ENST00000383703,,c.2002+69G>A,MODIFIER,,,,-1;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,NM_001377347.1&NM_001377349.1&NM_001377348.1,n.1381G>A,MODIFIER,,,,-1;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,,n.1015G>A,MODIFIER,,,,-1;SLC25A26,intron_variant,,ENST00000464350,,c.*1548-2121C>T,MODIFIER,,,,1","T","ENSG00000144749","ENST00000273261","Transcript","missense_variant","missense_variant","2614/5363","1999/3282","667/1093","A/T","Gca/Aca","rs548930200;COSV56241890",null,-1,"LRIG1","HGNC","HGNC:17360","protein_coding","YES","CCDS33783.1","ENSP00000273261","Q96JA1.154",null,"UPI000004C5BE","Q96JA1-1","NM_001377345.1;NM_001377344.1;NM_015541.3;NM_001377346.1","NM_015541.3","P1",null,"tolerated(0.1)","benign(0.007)","14/19",null,"Gene3D:2.60.40.10;PDB-ENSP_mappings:4u7m.A;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR24366;PANTHER:PTHR24366:SF75;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd05763",{"$nulls":8},"3.581e-05",0,"8.674e-05",0,0,0,"5.281e-05",0,0,"8.674e-05","gnomAD_AMR","6.0878301155753434e-05","2.4346300051547587e-05",0,0.000132590997964143,0,0,0,0,"7.715330139035359e-05",0,0.000208943005418404,0.000132590997964143,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCCTGCGTCAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119905","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRIG1",26018,"BI","GRCh38","chr3",66414929,66414929,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.638T>C","p.Leu213Pro","p.L213P","ENST00000273261","2024-05-19",160,116,43,147,null,null,"LRIG1,missense_variant,p.L213P,ENST00000273261,NM_001377345.1&NM_001377344.1&NM_015541.3&NM_001377346.1,c.638T>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;LRIG1,missense_variant,p.L213P,ENST00000383703,,c.638T>C,MODERATE,,deleterious(0),probably_damaging(0.999),-1;LRIG1,non_coding_transcript_exon_variant,,ENST00000498287,,n.591T>C,MODIFIER,,,,-1;LRIG1,non_coding_transcript_exon_variant,,ENST00000497721,,n.323T>C,MODIFIER,,,,-1;LRIG1,downstream_gene_variant,,ENST00000475366,,,MODIFIER,,,,-1;LRIG1,upstream_gene_variant,,ENST00000491821,,,MODIFIER,,,,-1","G","ENSG00000144749","ENST00000273261","Transcript","missense_variant","missense_variant","1253/5363","638/3282","213/1093","L/P","cTg/cCg","COSV56241908",null,-1,"LRIG1","HGNC","HGNC:17360","protein_coding","YES","CCDS33783.1","ENSP00000273261","Q96JA1.154",null,"UPI000004C5BE","Q96JA1-1","NM_001377345.1;NM_001377344.1;NM_015541.3;NM_001377346.1","NM_015541.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-05-19",null,"Gene3D:3.80.10.10;PDB-ENSP_mappings:4u7l.A;Pfam:PF13855;PROSITE_profiles:PS51450;PANTHER:PTHR24366;PANTHER:PTHR24366:SF75;SMART:SM00365;SMART:SM00369;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTGTCAGCCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4119924;COSM4119925","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PPP4R2",151987,"BI","GRCh38","chr3",72998089,72998089,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.51del","p.Lys19ArgfsTer14","p.K19Rfs*14","ENST00000356692","2024-02-09",219,177,42,215,null,null,"PPP4R2,frameshift_variant,p.K19Rfs*14,ENST00000356692,NM_001318026.1&NM_174907.4&NM_001318025.2&NM_001318027.2,c.51del,HIGH,YES,,,1;PPP4R2,frameshift_variant,p.K19Rfs*14,ENST00000488810,,c.51del,HIGH,,,,1;PPP4R2,frameshift_variant,p.K19Rfs*14,ENST00000495566,NM_001318028.2,c.51del,HIGH,,,,1;GXYLT2,frameshift_variant,p.G150Efs*?,ENST00000491839,,c.449del,HIGH,,,,1;PPP4R2,5_prime_UTR_variant,,ENST00000476505,,c.-64del,MODIFIER,,,,1;PPP4R2,frameshift_variant,p.K19Rfs*14,ENST00000482242,,c.51del,HIGH,,,,1;PPP4R2,non_coding_transcript_exon_variant,,ENST00000470976,,n.271del,MODIFIER,,,,1","-","ENSG00000163605","ENST00000356692","Transcript","frameshift_variant","frameshift_variant","274/4957","47/1254","16/417","R/X","aGg/ag",null,null,1,"PPP4R2","HGNC","HGNC:18296","protein_coding","YES","CCDS2917.1","ENSP00000349124","Q9NY27.136",null,"UPI000006F837","Q9NY27-1","NM_001318026.1;NM_174907.4;NM_001318025.2;NM_001318027.2","NM_174907.4","P1",{"$nulls":3},"2024-02-09",null,"Pfam:PF09184;PANTHER:PTHR16487",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"AGAAGAGGGGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PDZRN3",23024,"BI","GRCh38","chr3",73384720,73384720,"+","Missense_Mutation","SNP","C","C","T","rs139110477",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1846G>A","p.Gly616Ser","p.G616S","ENST00000263666","2024-10-10",116,78,37,111,null,null,"PDZRN3,missense_variant,p.G616S,ENST00000263666,NM_015009.3,c.1846G>A,MODERATE,YES,tolerated(0.78),benign(0.047),-1;PDZRN3,missense_variant,p.G273S,ENST00000462146,NM_001303141.1,c.817G>A,MODERATE,,tolerated(0.76),benign(0.047),-1;PDZRN3,missense_variant,p.G333S,ENST00000479530,NM_001303142.2,c.997G>A,MODERATE,,tolerated(0.77),benign(0.026),-1;PDZRN3,missense_variant,p.G273S,ENST00000466780,NM_001303140.2,c.817G>A,MODERATE,,tolerated(0.76),benign(0.047),-1;PDZRN3,missense_variant,p.G213S,ENST00000494559,,c.637G>A,MODERATE,,tolerated(0.69),benign(0.071),-1;PDZRN3,missense_variant,p.G314S,ENST00000492909,NM_001303139.1,c.940G>A,MODERATE,,tolerated(0.75),benign(0.006),-1;PDZRN3,downstream_gene_variant,,ENST00000466348,,,MODIFIER,,,,-1;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,,n.507G>A,MODIFIER,,,,-1;PDZRN3,downstream_gene_variant,,ENST00000484487,,,MODIFIER,,,,-1","T","ENSG00000121440","ENST00000263666","Transcript","missense_variant","missense_variant","1962/4251","1846/3201","616/1066","G/S","Ggc/Agc","rs139110477;COSV99732075",null,-1,"PDZRN3","HGNC","HGNC:17704","protein_coding","YES","CCDS33789.1","ENSP00000263666","Q9UPQ7.174",null,"UPI00001C1DE6","Q9UPQ7-1","NM_015009.3","NM_015009.3","P1",null,"tolerated(0.78)","benign(0.047)","2024-10-10",null,"PANTHER:PTHR15545;PANTHER:PTHR15545:SF5",0.0004,0.0008,0,1E-3,0,0,0.0004539,0,"5.982e-05",0.0003697,"5.783e-05",0,0.0002177,0,"2.65e-05",0,0,1E-3,"EAS","6.082480103941634e-05",1.70101004187017E-4,0,0,0,2.02184004592709E-4,0,0,"1.5433099179062992e-05",0,0,1.70101004187017E-4,"afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GTCGCCGCTGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4120143;COSM4120144;COSM4120145","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CRYBG3",131544,"BI","GRCh38","chr3",97877124,97877124,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5930C>T","p.Thr1977Ile","p.T1977I","ENST00000389622","2024-04-22",53,38,15,47,null,null,"CRYBG3,missense_variant,p.T1977I,ENST00000389622,NM_153605.4,c.5930C>T,MODERATE,YES,deleterious(0.04),benign(0.015),1;AC110491.2,upstream_gene_variant,,ENST00000624061,,,MODIFIER,YES,,,-1","T","ENSG00000080200","ENST00000389622","Transcript","missense_variant","missense_variant","6126/10779","5930/8913","1977/2970","T/I","aCa/aTa","COSV51712787",null,1,"CRYBG3","HGNC","HGNC:34427","protein_coding","YES","CCDS43113.2","ENSP00000374273","Q68DQ2.133",null,"UPI0001E6F891","Q68DQ2-3","NM_153605.4","NM_153605.4","P1",null,"deleterious(0.04)","benign(0.015)","2024-04-22",null,"PANTHER:PTHR11818;PANTHER:PTHR11818:SF38",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"AGAGACAGATT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4120684","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GABRR3",200959,"BI","GRCh38","chr3",98012543,98012543,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.331A>G","p.Arg111Gly","p.R111G","ENST00000472788","2024-04-09",59,44,15,88,null,null,"GABRR3,missense_variant,p.R111G,ENST00000621172,NM_001105580.2,c.331A>G,MODERATE,YES,deleterious(0),probably_damaging(0.977),-1;GABRR3,missense_variant,p.R111G,ENST00000472788,,c.331A>G,MODERATE,,deleterious(0),probably_damaging(0.977),-1;GABRR3,intron_variant,,ENST00000470589,,n.424-122A>G,MODIFIER,,,,-1","C","ENSG00000183185","ENST00000472788","Transcript","missense_variant","missense_variant","333/1416","331/1404","111/467","R/G","Agg/Ggg","COSV72084153",null,-1,"GABRR3","HGNC","HGNC:17969","protein_coding",null,"CCDS54617.1","ENSP00000420790","A8MPY1.105",null,"UPI000003F558",{"$nulls":3},"P1",null,"deleterious(0)","probably_damaging(0.977)","2024-04-09",null,"CDD:cd19005;PANTHER:PTHR18945;PANTHER:PTHR18945:SF196;Pfam:PF02931;TIGRFAM:TIGR00860;Gene3D:2.70.170.10;Superfamily:SSF63712;Prints:PR00252",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"ATGCCTGAGAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4120720","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBC1D23",55773,"BI","GRCh38","chr3",100320892,100320892,"+","Frame_Shift_Del","DEL","A","A","-","rs747637295",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1947del","p.Lys649AsnfsTer18","p.K649Nfs*18","ENST00000394144","18/19",58,36,21,50,null,null,"TBC1D23,frameshift_variant,p.K649Nfs*18,ENST00000394144,NM_001199198.3,c.1947del,HIGH,YES,,,1;TBC1D23,frameshift_variant,p.K634Nfs*18,ENST00000344949,NM_018309.5,c.1902del,HIGH,,,,1;TBC1D23,frameshift_variant,p.K512Nfs*18,ENST00000475134,,c.1536del,HIGH,,,,1;TBC1D23,non_coding_transcript_exon_variant,,ENST00000486274,,n.2331del,MODIFIER,,,,1;TBC1D23,non_coding_transcript_exon_variant,,ENST00000471273,,n.585del,MODIFIER,,,,1","-","ENSG00000036054","ENST00000394144","Transcript","frameshift_variant","frameshift_variant","1966/3697","1939/2100","647/699","K/X","Aaa/aa","rs747637295;COSV61367528",null,1,"TBC1D23","HGNC","HGNC:25622","protein_coding","YES","CCDS56265.1","ENSP00000377700","Q9NUY8.144",null,"UPI000013D5E5","Q9NUY8-1","NM_001199198.3","NM_001199198.3","P4",{"$nulls":3},"18/19",null,"PDB-ENSP_mappings:6jm5.A;PDB-ENSP_mappings:6jm5.B;PANTHER:PTHR13297",{"$nulls":8},1.226E-4,0,0.0001731,0,0,1.021E-4,"6.919e-05",0.0001893,4.618E-4,4.618E-4,"gnomAD_SAS","6.872379799460759e-06",0,0,0,0,0,0,0,"1.5577799786115065e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,8,"0;1",1,"ACATCCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1417275;COSM1417276","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ZBTB20",26137,"BI","GRCh38","chr3",114339156,114339156,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2075del","p.Pro692LeufsTer43","p.P692Lfs*43","ENST00000474710","2024-05-05",78,61,16,63,null,null,"ZBTB20,frameshift_variant,p.P692Lfs*43,ENST00000675478,NM_001348800.3&NM_001348803.2,c.2075del,HIGH,YES,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000357258,NM_015642.6&NM_001348801.2&NM_001348802.2&NM_001348804.2&NM_001348805.2,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000462705,NM_001164343.2,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000393785,NM_001164346.2,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000471418,NM_001164345.3,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P692Lfs*43,ENST00000676079,,c.2075del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000464560,NM_001164344.3,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P619Lfs*43,ENST00000481632,NM_001164347.2,c.1856del,HIGH,,,,-1;ZBTB20,frameshift_variant,p.P692Lfs*43,ENST00000474710,NM_001164342.2,c.2075del,HIGH,,,,-1;ZBTB20,downstream_gene_variant,,ENST00000479879,,,MODIFIER,,,,-1","-","ENSG00000181722","ENST00000474710","Transcript","frameshift_variant","frameshift_variant","2254/2757","2075/2226","692/741","P/X","cCt/ct",null,null,-1,"ZBTB20","HGNC","HGNC:13503","protein_coding",null,"CCDS54626.1","ENSP00000419153","Q9HC78.173",null,"UPI0000141957","Q9HC78-1","NM_001164342.2",null,"P4",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR24399;PANTHER:PTHR24399:SF19;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",null,"deletion",1,null,null,1,"CCTGCAGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1243009;COSM267785","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CCDC14",64770,"BI","GRCh38","chr3",123914885,123914885,"+","Missense_Mutation","SNP","G","G","A","rs763135281",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2633C>T","p.Thr878Met","p.T878M","ENST00000488653","2024-12-12",33,20,13,34,null,null,"CCDC14,missense_variant,p.T719M,ENST00000485727,NM_001366338.1&NM_001366336.1,c.2156C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CCDC14,missense_variant,p.T719M,ENST00000489746,NM_001366337.1&NM_001308317.2&NM_001366339.1,c.2156C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CCDC14,missense_variant,p.T878M,ENST00000488653,,c.2633C>T,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;CCDC14,missense_variant,p.T871M,ENST00000409697,NM_001366335.1,c.2612C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CCDC14,missense_variant,p.T830M,ENST00000433542,,c.2489C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CCDC14,missense_variant,p.T830M,ENST00000310351,NM_022757.5,c.2489C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CCDC14,intron_variant,,ENST00000479903,,c.667+16217C>T,MODIFIER,,,,-1;CCDC14,downstream_gene_variant,,ENST00000419247,,,MODIFIER,,,,-1;CCDC14,non_coding_transcript_exon_variant,,ENST00000483247,,n.474C>T,MODIFIER,,,,-1;CCDC14,intron_variant,,ENST00000463996,,n.66-17272C>T,MODIFIER,,,,-1;CCDC14,3_prime_UTR_variant,,ENST00000409657,,c.*2496C>T,MODIFIER,,,,-1;CCDC14,non_coding_transcript_exon_variant,,ENST00000495381,,n.2833C>T,MODIFIER,,,,-1","A","ENSG00000175455","ENST00000488653","Transcript","missense_variant","missense_variant","2724/4156","2633/2739","878/912","T/M","aCg/aTg","rs763135281;COSV59945484",null,-1,"CCDC14","HGNC","HGNC:25766","protein_coding","YES","CCDS3025.2","ENSP00000420180","Q49A88.121",null,"UPI00016632FB","Q49A88-6",{"$nulls":4},"deleterious(0)","probably_damaging(0.995)","2024-12-12",null,"Pfam:PF15254;PANTHER:PTHR22367",{"$nulls":8},"4.001e-06",0,"2.902e-05",0,0,0,0,0,0,"2.902e-05","gnomAD_AMR","1.3515000318875536e-05",0,0,0,0,0,0,0,"3.085660137003288e-05",0,0,"3.085660137003288e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TGAACGTTGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4112913;COSM4112914;COSM4112915","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SEC61A1",29927,"BI","GRCh38","chr3",128064903,128064903,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.643G>A","p.Ala215Thr","p.A215T","ENST00000243253","2024-08-12",85,59,26,71,null,null,"SEC61A1,missense_variant,p.A215T,ENST00000243253,NM_013336.4,c.643G>A,MODERATE,,deleterious(0),possibly_damaging(0.907),1;SEC61A1,missense_variant,p.A95T,ENST00000424880,,c.283G>A,MODERATE,,deleterious(0),possibly_damaging(0.907),1;SEC61A1,missense_variant,p.A221T,ENST00000464451,,c.661G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.907),1;RUVBL1,3_prime_UTR_variant,,ENST00000464873,NM_001319086.1,c.*309C>T,MODIFIER,,,,-1;RUVBL1,3_prime_UTR_variant,,ENST00000472125,,c.*125C>T,MODIFIER,,,,-1;SEC61A1,downstream_gene_variant,,ENST00000481210,,,MODIFIER,,,,1;SEC61A1,non_coding_transcript_exon_variant,,ENST00000483956,,n.5G>A,MODIFIER,,,,1;SEC61A1,upstream_gene_variant,,ENST00000498837,,,MODIFIER,,,,1;RUVBL1,3_prime_UTR_variant,,ENST00000585057,,c.*592C>T,MODIFIER,,,,-1","A","ENSG00000058262","ENST00000243253","Transcript","missense_variant","missense_variant","759/3568","643/1431","215/476","A/T","Gca/Aca","COSV54577633",null,1,"SEC61A1","HGNC","HGNC:18276","protein_coding",null,"CCDS3046.1","ENSP00000243253","P61619.157","B3KNF6.96","UPI00000041A9","P61619-1","NM_013336.4","NM_013336.4","P1",null,"deleterious(0)","possibly_damaging(0.907)","2024-08-12",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR10906;PANTHER:PTHR10906:SF19;PIRSF:PIRSF004557;Gene3D:1.10.3370.10;TIGRFAM:TIGR00967;Pfam:PF00344;Superfamily:SSF103491",{"$nulls":19},"6.7597698034660425e-06",0,0,"6.626910180784762e-05",0,0,0,0,0,0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TCATCGCACTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM203712","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACAD11",84129,"BI","GRCh38","chr3",132618665,132618665,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1383del","p.Phe461LeufsTer46","p.F461Lfs*46","ENST00000264990","2024-11-20",53,43,10,55,null,null,"ACAD11,frameshift_variant,p.F461Lfs*46,ENST00000264990,NM_032169.5,c.1383del,HIGH,YES,,,-1;ACAD11,frameshift_variant,p.F461Lfs*29,ENST00000481970,,c.1383del,HIGH,,,,-1;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,,n.214del,MODIFIER,,,,-1;ACAD11,frameshift_variant,p.F19Lfs*46,ENST00000510100,,c.57del,HIGH,,,,-1;NPHP3-ACAD11,3_prime_UTR_variant,,ENST00000471702,,c.*3370del,MODIFIER,,,,-1;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,,n.1281del,MODIFIER,,,,-1;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,,n.1714del,MODIFIER,,,,-1;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,,n.570del,MODIFIER,,,,-1;ACAD11,intron_variant,,ENST00000485198,,c.1197+8026del,MODIFIER,,,,-1;ACKR4,intron_variant,,ENST00000509820,,c.*85-21del,MODIFIER,,,,1","-","ENSG00000240303","ENST00000264990","Transcript","frameshift_variant","frameshift_variant","1441/3231","1383/2343","461/780","F/X","ttT/tt",null,null,-1,"ACAD11","HGNC","HGNC:30211","protein_coding","YES","CCDS3074.1","ENSP00000264990","Q709F0.150",null,"UPI0000223E4E","Q709F0-1","NM_032169.5","NM_032169.5","P1",{"$nulls":3},"2024-11-20",null,"PDB-ENSP_mappings:2wbi.A;PDB-ENSP_mappings:2wbi.B;CDD:cd01155;PANTHER:PTHR45741;Pfam:PF02771;Gene3D:1.10.540.10;Superfamily:SSF56645",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TGGAGCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RASA2",5922,"BI","GRCh38","chr3",141607706,141607706,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1967del","p.Asn656ThrfsTer21","p.N656Tfs*21","ENST00000286364","20/24",48,38,10,46,null,null,"RASA2,frameshift_variant,p.N656Tfs*21,ENST00000286364,NM_001303245.2&NM_001303246.2&NM_006506.5,c.1967del,HIGH,,,,1;RASA2,frameshift_variant,p.N660Tfs*21,ENST00000452898,,c.1979del,HIGH,YES,,,1;RASA2,non_coding_transcript_exon_variant,,ENST00000509118,,n.419del,MODIFIER,,,,1;RASA2,non_coding_transcript_exon_variant,,ENST00000509032,,n.461del,MODIFIER,,,,1;RASA2,non_coding_transcript_exon_variant,,ENST00000506365,,n.103del,MODIFIER,,,,1","-","ENSG00000155903","ENST00000286364","Transcript","frameshift_variant","frameshift_variant","2019/5638","1962/2550","654/849","V/X","gtA/gt",null,null,1,"RASA2","HGNC","HGNC:9872","protein_coding",null,"CCDS3117.1","ENSP00000286364","Q15283.173",null,"UPI00001351F5","Q15283-2","NM_001303245.2;NM_001303246.2;NM_006506.5","NM_006506.5","P4",{"$nulls":3},"20/24",null,"CDD:cd13370;Gene3D:2.30.29.30;Pfam:PF00169;SMART:SM00233;Superfamily:SSF50729;PROSITE_profiles:PS50003;PANTHER:PTHR10194;PANTHER:PTHR10194:SF21",{"$nulls":41},"HIGH",null,"deletion",1,5,null,1,"CCCAGTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3124745;COSM3124746","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["U2SURP",23350,"BI","GRCh38","chr3",143056370,143056370,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3015del","p.Lys1005AsnfsTer30","p.K1005Nfs*30","ENST00000473835","28/28",33,22,11,33,null,null,"U2SURP,frameshift_variant,p.K1005Nfs*30,ENST00000473835,NM_001320222.2&NM_001080415.2&NM_001320220.2,c.3015del,HIGH,YES,,,1;U2SURP,frameshift_variant,p.K1004Nfs*30,ENST00000493598,NM_001320219.2,c.3012del,HIGH,,,,1;U2SURP,frameshift_variant,p.K266Nfs*30,ENST00000467348,,c.796del,HIGH,,,,1;U2SURP,3_prime_UTR_variant,,ENST00000463563,,c.*1766del,MODIFIER,,,,1;U2SURP,3_prime_UTR_variant,,ENST00000488497,,c.*1693del,MODIFIER,,,,1;U2SURP,downstream_gene_variant,,ENST00000480029,,,MODIFIER,,,,1","-","ENSG00000163714","ENST00000473835","Transcript","frameshift_variant","frameshift_variant","3069/7424","3010/3090","1004/1029","K/X","Aaa/aa",null,null,1,"U2SURP","HGNC","HGNC:30855","protein_coding","YES","CCDS46928.1","ENSP00000418563","O15042.157",null,"UPI0000160746","O15042-1","NM_001320222.2;NM_001080415.2;NM_001320220.2","NM_001080415.2","P3",{"$nulls":3},"28/28",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR23140;PANTHER:PTHR23140:SF8",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"TCTCCTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1419683","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SIAH2",6478,"BI","GRCh38","chr3",150742280,150742280,"+","Missense_Mutation","SNP","G","G","A","rs758857423",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.836C>T","p.Thr279Met","p.T279M","ENST00000312960","2024-02-02",72,45,27,91,null,null,"SIAH2,missense_variant,p.T279M,ENST00000312960,NM_005067.7,c.836C>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.609),-1;SIAH2,downstream_gene_variant,,ENST00000482706,,,MODIFIER,,,,-1;AC011317.1,upstream_gene_variant,,ENST00000654592,,,MODIFIER,YES,,,-1;AC011317.1,upstream_gene_variant,,ENST00000659411,,,MODIFIER,,,,-1;AC011317.1,upstream_gene_variant,,ENST00000669560,,,MODIFIER,,,,-1","A","ENSG00000181788","ENST00000312960","Transcript","missense_variant","missense_variant","1156/2311","836/975","279/324","T/M","aCg/aTg","rs758857423;COSV57262093",null,-1,"SIAH2","HGNC","HGNC:10858","protein_coding","YES","CCDS3152.1","ENSP00000322457","O43255.178",null,"UPI0000071280",null,"NM_005067.7","NM_005067.7","P1",null,"deleterious(0.04)","possibly_damaging(0.609)","2024-02-02",null,"PDB-ENSP_mappings:5h9m.A;PDB-ENSP_mappings:5h9m.B;CDD:cd03829;PANTHER:PTHR45877:SF4;PANTHER:PTHR45877;Gene3D:2.60.210.10;Pfam:PF03145;Superfamily:SSF49599",{"$nulls":8},"7.956e-06",0,0,0,0,0,0,0,"6.533e-05","6.533e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GGGGCGTGGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3427204","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZBBX",79740,"BI","GRCh38","chr3",167298362,167298362,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1822T>G","p.Leu608Val","p.L608V","ENST00000392766","18/21",107,78,29,94,null,null,"ZBBX,missense_variant,p.L608V,ENST00000675490,NM_001199201.2,c.1822T>G,MODERATE,YES,tolerated(0.51),benign(0.031),-1;ZBBX,missense_variant,p.L608V,ENST00000455345,NM_001377489.1,c.1822T>G,MODERATE,,tolerated(0.57),benign(0.014),-1;ZBBX,missense_variant,p.L608V,ENST00000392766,NM_024687.3,c.1822T>G,MODERATE,,tolerated(0.57),benign(0.014),-1;ZBBX,missense_variant,p.L608V,ENST00000307529,,c.1822T>G,MODERATE,,tolerated(0.51),benign(0.031),-1;ZBBX,missense_variant,p.L579V,ENST00000392767,,c.1735T>G,MODERATE,,tolerated(0.31),benign(0.014),-1;ZBBX,missense_variant,p.L579V,ENST00000392764,NM_001199202.1,c.1735T>G,MODERATE,,tolerated(0.31),benign(0.014),-1;ZBBX,3_prime_UTR_variant,,ENST00000674903,,c.*533T>G,MODIFIER,,,,-1","C","ENSG00000169064","ENST00000392766","Transcript","missense_variant","missense_variant","2163/3250","1822/2403","608/800","L/V","Tta/Gta","COSV56789138;COSV56792270",null,-1,"ZBBX","HGNC","HGNC:26245","protein_coding",null,"CCDS3199.2","ENSP00000376519","A8MT70.97",null,"UPI000020A743","A8MT70-1","NM_024687.3",null,"A2",null,"tolerated(0.57)","benign(0.014)","18/21",null,"PANTHER:PTHR28634",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"1;1",null,"AAGTAAGTTGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4115024;COSM4115025","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KNG1",3827,"BI","GRCh38","chr3",186741914,186741915,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1523dup","p.Asn508LysfsTer2","p.N508Kfs*2","ENST00000644859","2024-10-10",49,34,15,38,null,null,"KNG1,frameshift_variant,p.N508Kfs*2,ENST00000644859,NM_001102416.3,c.1523dup,HIGH,YES,,,1;KNG1,intron_variant,,ENST00000287611,NM_000893.4,c.1203+320dup,MODIFIER,,,,1;KNG1,intron_variant,,ENST00000447445,NM_001166451.2,c.1095+320dup,MODIFIER,,,,1;AC068631.1,intron_variant,,ENST00000354642,,n.313+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000599314,,n.199+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000625303,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000625386,,n.110+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000625710,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000625741,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000625839,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000626151,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000626306,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000626633,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000626845,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000627015,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000627268,,n.264+1635dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000627469,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000627551,,n.135+1788dup,MODIFIER,YES,,,-1;AC068631.1,intron_variant,,ENST00000627830,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000627919,,n.108+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628020,,n.187+1712dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628190,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628253,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628505,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628601,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628728,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628831,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000628858,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000629106,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000629126,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000629451,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000629734,,n.312+158dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000630178,,n.135+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000630331,,n.54+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000630864,,n.111+1788dup,MODIFIER,,,,-1;AC068631.1,intron_variant,,ENST00000631299,,n.89+1788dup,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000596329,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000596632,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000609652,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000609726,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000625690,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000625869,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000626520,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000626586,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000626978,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000628291,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000628928,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000629201,,,MODIFIER,,,,-1;AC068631.1,downstream_gene_variant,,ENST00000629954,,,MODIFIER,,,,-1","A","ENSG00000113889","ENST00000644859","Transcript","frameshift_variant","frameshift_variant","1702-1703/4198","1518-1519/1935","506-507/644","-/X","-/A",null,null,1,"KNG1","HGNC","HGNC:6383","protein_coding","YES","CCDS43183.1","ENSP00000493985","P01042.225",null,"UPI000013D5AC","P01042-1","NM_001102416.3",null,"A2",{"$nulls":3},"2024-10-10",null,"PDB-ENSP_mappings:4ecb.A;PDB-ENSP_mappings:4ecb.B;PDB-ENSP_mappings:4ecc.A;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR13814;PANTHER:PTHR13814:SF12;Prints:PR00334",{"$nulls":41},"HIGH",null,"insertion",null,5,null,1,"AAACATAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["EIF4A2",1974,"BI","GRCh38","chr3",186785018,186785018,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.265A>G","p.Ile89Val","p.I89V","ENST00000323963","2024-04-11",132,96,35,121,null,null,"EIF4A2,missense_variant,p.I90V,ENST00000440191,,c.268A>G,MODERATE,YES,tolerated(0.14),benign(0.049),1;EIF4A2,missense_variant,p.I89V,ENST00000323963,NM_001967.4,c.265A>G,MODERATE,,tolerated(0.14),benign(0.082),1;EIF4A2,missense_variant,p.I89V,ENST00000445596,,c.265A>G,MODERATE,,tolerated(0.11),benign(0.082),1;EIF4A2,missense_variant,p.I72V,ENST00000498746,,c.214A>G,MODERATE,,tolerated(0.1),benign(0.082),1;RFC4,downstream_gene_variant,,ENST00000296273,NM_002916.4,,MODIFIER,,,,-1;RFC4,downstream_gene_variant,,ENST00000392481,NM_181573.2,,MODIFIER,YES,,,-1;RFC4,downstream_gene_variant,,ENST00000417876,,,MODIFIER,,,,-1;RFC4,downstream_gene_variant,,ENST00000433496,,,MODIFIER,,,,-1;EIF4A2,downstream_gene_variant,,ENST00000441007,,,MODIFIER,,,,1;SNORA63,upstream_gene_variant,,ENST00000363450,,,MODIFIER,YES,,,1;SNORA63B,upstream_gene_variant,,ENST00000363548,,,MODIFIER,YES,,,1;SNORA81,upstream_gene_variant,,ENST00000408493,,,MODIFIER,YES,,,1;SNORD2,downstream_gene_variant,,ENST00000459163,,,MODIFIER,YES,,,1;SNORA4,upstream_gene_variant,,ENST00000584302,,,MODIFIER,YES,,,1;MIR1248,upstream_gene_variant,,ENST00000629190,,,MODIFIER,YES,,,1;EIF4A2,missense_variant,p.I89V,ENST00000425053,,c.265A>G,MODERATE,,tolerated(0.13),benign(0.039),1;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,,n.563A>G,MODIFIER,,,,1;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465267,,n.302A>G,MODIFIER,,,,1;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465222,,n.652A>G,MODIFIER,,,,1;EIF4A2,non_coding_transcript_exon_variant,,ENST00000486805,,n.567A>G,MODIFIER,,,,1;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465032,,n.299A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000426808,,c.208+322A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000429589,,c.208+322A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000443963,,c.211+322A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000467585,,n.408+322A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000475653,,n.226+322A>G,MODIFIER,,,,1;EIF4A2,intron_variant,,ENST00000495049,,n.242+322A>G,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000461021,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000465792,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000466362,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000468362,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000475409,,,MODIFIER,,,,1;RFC4,downstream_gene_variant,,ENST00000479307,,,MODIFIER,,,,-1;EIF4A2,downstream_gene_variant,,ENST00000491473,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000492144,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000494445,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000496382,,,MODIFIER,,,,1;EIF4A2,upstream_gene_variant,,ENST00000497177,,,MODIFIER,,,,1;AC112907.3,upstream_gene_variant,,ENST00000577781,,,MODIFIER,YES,,,-1","G","ENSG00000156976","ENST00000323963","Transcript","missense_variant","missense_variant","299/1886","265/1224","89/407","I/V","Att/Gtt","COSV56217381",null,1,"EIF4A2","HGNC","HGNC:3284","protein_coding",null,"CCDS3282.1","ENSP00000326381","Q14240.208",null,"UPI0000000DD2","Q14240-1","NM_001967.4","NM_001967.4","P4",null,"tolerated(0.14)","benign(0.082)","2024-04-11",null,"PDB-ENSP_mappings:3bor.A;PROSITE_profiles:PS51192;CDD:cd18046;PANTHER:PTHR24031;PANTHER:PTHR24031:SF623;Gene3D:3.40.50.300;Pfam:PF00270;SMART:SM00487",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TTGCTATTTCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4115968","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TM4SF19",116211,"BI","GRCh38","chr3",196323977,196323977,"+","Missense_Mutation","SNP","G","G","A","rs1236617103",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.470C>T","p.Ser157Leu","p.S157L","ENST00000273695","2024-05-05",46,36,10,63,null,null,"TM4SF19,missense_variant,p.R156C,ENST00000446879,,c.466C>T,MODERATE,YES,tolerated_low_confidence(0.21),benign(0.007),-1;TM4SF19,missense_variant,p.S131L,ENST00000454715,NM_001204898.2,c.392C>T,MODERATE,,tolerated(0.09),benign(0.001),-1;TM4SF19,missense_variant,p.S157L,ENST00000273695,NM_001204897.2&NM_138461.4,c.470C>T,MODERATE,,tolerated(0.16),benign(0.003),-1;TM4SF19,missense_variant,p.R24C,ENST00000440822,,c.70C>T,MODERATE,,tolerated_low_confidence(0.17),benign(0.005),-1;TM4SF19-TCTEX1D2,missense_variant,p.S157L,ENST00000442633,,c.470C>T,MODERATE,YES,tolerated(0.16),benign(0.003),-1;TM4SF19-AS1,non_coding_transcript_exon_variant,,ENST00000452051,,n.236G>A,MODIFIER,YES,,,1;TM4SF19-AS1,non_coding_transcript_exon_variant,,ENST00000444939,,n.253G>A,MODIFIER,,,,1;TM4SF19-AS1,downstream_gene_variant,,ENST00000420226,,,MODIFIER,,,,1","A","ENSG00000145107","ENST00000273695","Transcript","missense_variant","missense_variant","596/1026","470/630","157/209","S/L","tCg/tTg","rs1236617103;COSV56556900",null,-1,"TM4SF19","HGNC","HGNC:25167","protein_coding",null,"CCDS3316.1","ENSP00000273695","Q96DZ7.124",null,"UPI000013D9CC","Q96DZ7-1","NM_001204897.2;NM_138461.4","NM_138461.4","P1",null,"tolerated(0.16)","benign(0.003)","2024-05-05",null,"Pfam:PF05805;PANTHER:PTHR14198;PANTHER:PTHR14198:SF22",{"$nulls":8},"3.985e-06","6.176e-05",0,0,0,0,0,0,0,"6.176e-05","gnomAD_AFR","1.3528700037568342e-05",0,0,"6.636579928454012e-05",0,0,0,0,"1.5434499800903723e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"AGAGCGAACGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4116385","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SLC49A3",84179,"BI","GRCh38","chr4",686657,686657,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.169A>G","p.Ile57Val","p.I57V","ENST00000404286","2024-02-10",124,86,38,131,null,null,"SLC49A3,missense_variant,p.I57V,ENST00000322224,NM_032219.4,c.169A>G,MODERATE,,tolerated(0.63),benign(0.007),-1;SLC49A3,missense_variant,p.I57V,ENST00000404286,NM_001294341.2,c.169A>G,MODERATE,YES,tolerated(0.58),benign(0.007),-1;SLC49A3,missense_variant,p.I57V,ENST00000515118,NM_001378060.1&NM_001378059.1&NM_001378061.1,c.169A>G,MODERATE,,tolerated(0.71),benign(0.009),-1;SLC49A3,missense_variant,p.I57V,ENST00000512249,,c.169A>G,MODERATE,,tolerated(1),benign(0.009),-1;SLC49A3,5_prime_UTR_variant,,ENST00000503156,,c.-24A>G,MODIFIER,,,,-1;SLC49A3,5_prime_UTR_variant,,ENST00000507165,,c.-24A>G,MODIFIER,,,,-1;SLC49A3,intron_variant,,ENST00000347950,NM_001378062.1&NM_001294342.2,c.136-33A>G,MODIFIER,,,,-1;MYL5,downstream_gene_variant,,ENST00000400159,NM_002477.1,,MODIFIER,YES,,,1;MYL5,downstream_gene_variant,,ENST00000505477,,,MODIFIER,,,,1;MYL5,downstream_gene_variant,,ENST00000506838,NM_001363650.2,,MODIFIER,,,,1;MYL5,downstream_gene_variant,,ENST00000511290,,,MODIFIER,,,,1;SLC49A3,non_coding_transcript_exon_variant,,ENST00000513740,,n.307A>G,MODIFIER,,,,-1;MYL5,downstream_gene_variant,,ENST00000503300,,,MODIFIER,,,,1;MYL5,downstream_gene_variant,,ENST00000503612,,,MODIFIER,,,,1;SLC49A3,upstream_gene_variant,,ENST00000512400,,,MODIFIER,,,,-1;MYL5,downstream_gene_variant,,ENST00000513662,,,MODIFIER,,,,1","C","ENSG00000169026","ENST00000404286","Transcript","missense_variant","missense_variant","185/1826","169/1683","57/560","I/V","Att/Gtt","COSV59140742",null,-1,"SLC49A3","HGNC","HGNC:26177","protein_coding","YES","CCDS75086.1","ENSP00000384616","Q6UXD7.115",null,"UPI00001D6976","Q6UXD7-1","NM_001294341.2",null,"P4",null,"tolerated(0.58)","benign(0.007)","2024-02-10",null,"Gene3D:1.20.1250.20;Pfam:PF07690;PANTHER:PTHR10924;PANTHER:PTHR10924:SF6;Superfamily:SSF103473;CDD:cd17399",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGCAATGACGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4125579","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RGS12",6002,"BI","GRCh38","chr4",3317462,3317464,"+","In_Frame_Del","DEL","AGG","AGG","-","rs1194911154",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1297_1299del","p.Glu433del","p.E433del","ENST00000336727","2024-01-17",71,64,7,86,null,null,"RGS12,inframe_deletion,p.E433del,ENST00000382788,NM_002926.3,c.1297_1299del,MODERATE,,,,1;RGS12,inframe_deletion,p.E433del,ENST00000344733,NM_198229.2,c.1297_1299del,MODERATE,YES,,,1;RGS12,inframe_deletion,p.E433del,ENST00000336727,,c.1297_1299del,MODERATE,,,,1;RGS12,upstream_gene_variant,,ENST00000511805,,,MODIFIER,,,,1;AL645949.1,downstream_gene_variant,,ENST00000600073,,,MODIFIER,,,,1;RGS12,inframe_deletion,p.E433del,ENST00000514268,,c.1297_1299del,MODERATE,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,,n.1400_1402del,MODIFIER,,,,1;RGS12,intron_variant,,ENST00000506631,,n.72+24368_72+24370del,MODIFIER,,,,1;AL645949.1,downstream_gene_variant,,ENST00000510094,,,MODIFIER,YES,,,1","-","ENSG00000159788","ENST00000336727","Transcript","inframe_deletion","inframe_deletion","1395-1397/4674","1292-1294/4344","431-432/1447","QE/Q","cAGGag/cag","rs1194911154",null,1,"RGS12","HGNC","HGNC:9994","protein_coding",null,"CCDS3366.1","ENSP00000338509","O14924.183",null,"UPI0000133830","O14924-1",null,null,"P4",{"$nulls":3},"2024-01-17",null,"PANTHER:PTHR45945:SF1;PANTHER:PTHR45945",{"$nulls":19},"6.760139967809664e-06","2.4313199901371263e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"MODERATE",null,"deletion",1,5,null,null,"TCCACCAGGAGGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["CPEB2",132864,"BI","GRCh38","chr4",15066234,15066234,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2941del","p.Cys981ValfsTer31","p.C981Vfs*31","ENST00000507071","2024-11-11",169,137,32,120,null,null,"CPEB2,frameshift_variant,p.C989Vfs*31,ENST00000538197,NM_001177382.2,c.2965del,HIGH,YES,,,1;CPEB2,frameshift_variant,p.C962Vfs*31,ENST00000442003,NM_001177381.2,c.2884del,HIGH,,,,1;CPEB2,frameshift_variant,p.C959Vfs*31,ENST00000382395,NM_001177383.2,c.2875del,HIGH,,,,1;CPEB2,frameshift_variant,p.C954Vfs*31,ENST00000382401,NM_001177384.2,c.2860del,HIGH,,,,1;CPEB2,frameshift_variant,p.C981Vfs*31,ENST00000507071,NM_182485.3,c.2941del,HIGH,,,,1;CPEB2,frameshift_variant,p.C951Vfs*31,ENST00000345451,NM_182646.3,c.2851del,HIGH,,,,1;CPEB2,downstream_gene_variant,,ENST00000509684,,,MODIFIER,,,,1;C1QTNF7-AS1,intron_variant,,ENST00000502344,,n.155-48353del,MODIFIER,YES,,,-1;C1QTNF7-AS1,intron_variant,,ENST00000513384,,n.253+24del,MODIFIER,,,,-1","-","ENSG00000137449","ENST00000507071","Transcript","frameshift_variant","frameshift_variant","2935/3327","2935/3081","979/1026","F/X","Ttt/tt",null,null,1,"CPEB2","HGNC","HGNC:21745","protein_coding",null,null,"ENSP00000424084",null,"A0A5K1VW93.2","UPI0001D04351",null,"NM_182485.3",null,"A2",{"$nulls":3},"2024-11-11",null,"Gene3D:3.30.40.130;Pfam:PF16366;PANTHER:PTHR12566;PANTHER:PTHR12566:SF8",{"$nulls":41},"HIGH",null,"deletion",1,6,null,null,"GCTCCCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1427381;COSM1427382","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["LIAS",11019,"BI","GRCh38","chr4",39460844,39460844,"+","Frame_Shift_Del","DEL","A","A","-","rs748571616",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.107del","p.Lys36ArgfsTer31","p.K36Rfs*31","ENST00000261434","2024-02-08",170,124,46,143,null,null,"LIAS,frameshift_variant,p.K36Rfs*31,ENST00000640888,NM_006859.4,c.107del,HIGH,YES,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000381846,NM_001278590.2,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000340169,NM_194451.3,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000261434,NM_001363700.2,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000638451,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000424936,NM_001278591.1,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000509519,NM_001278592.1,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000640349,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000513731,,c.107del,HIGH,,,,1;RPL9,upstream_gene_variant,,ENST00000295955,NM_001024921.3&NM_000661.5,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000449470,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000503040,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000503277,,,MODIFIER,YES,,,-1;RPL9,upstream_gene_variant,,ENST00000506581,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000508595,,,MODIFIER,,,,-1;LIAS,upstream_gene_variant,,ENST00000640672,,,MODIFIER,,,,1;RPL9,upstream_gene_variant,,ENST00000645496,,,MODIFIER,,,,-1;LIAS,non_coding_transcript_exon_variant,,ENST00000515061,,n.105del,MODIFIER,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000639422,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000640689,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000638422,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,p.K36Rfs*31,ENST00000638837,,c.107del,HIGH,,,,1;LIAS,frameshift_variant,,ENST00000640489,,c.*6del,HIGH,,,,1;LIAS,non_coding_transcript_exon_variant,,ENST00000640381,,n.167del,MODIFIER,,,,1;RPL9,upstream_gene_variant,,ENST00000437992,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000511075,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000514842,,,MODIFIER,,,,-1;LIAS,upstream_gene_variant,,ENST00000638430,,,MODIFIER,,,,1;LIAS,upstream_gene_variant,,ENST00000638816,,,MODIFIER,,,,1;RPL9,upstream_gene_variant,,ENST00000642337,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000644328,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000645585,,,MODIFIER,,,,-1;RPL9,upstream_gene_variant,,ENST00000645894,,,MODIFIER,,,,-1","-","ENSG00000121897","ENST00000261434","Transcript","frameshift_variant","frameshift_variant","131/1258","100/810","34/269","K/X","Aaa/aa","rs748571616",null,1,"LIAS","HGNC","HGNC:16429","protein_coding",null,"CCDS87218.1","ENSP00000261434",null,"A0A1X7SBR7.17","UPI0007DC7346",null,"NM_001363700.2",{"$nulls":5},"2024-02-08",null,"Pfam:PF16881;SMART:SM00729",{"$nulls":8},"5.062e-05",0,"9.735e-05",0,0,0,"4.562e-05",0,1.471E-4,1.471E-4,"gnomAD_SAS",{"$nulls":22},"HIGH",null,"deletion",5,7,null,1,"CCAGATAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM293646","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LIAS",11019,"BI","GRCh38","chr4",39470035,39470035,"+","Missense_Mutation","SNP","C","C","T","rs775053206",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.445C>T","p.Arg149Trp","p.R149W","ENST00000261434","2024-05-08",63,51,11,65,null,null,"LIAS,missense_variant,p.R252W,ENST00000640888,NM_006859.4,c.754C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;LIAS,missense_variant,p.R209W,ENST00000381846,NM_001278590.2,c.625C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;LIAS,missense_variant,p.R252W,ENST00000340169,NM_194451.3,c.754C>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;LIAS,missense_variant,p.R129W,ENST00000640672,,c.385C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;LIAS,missense_variant,p.R149W,ENST00000261434,NM_001363700.2,c.445C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;LIAS,missense_variant,p.R106W,ENST00000638451,,c.316C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;LIAS,missense_variant,p.R214W,ENST00000640349,,c.640C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;LIAS,missense_variant,p.R122W,ENST00000513731,,c.364C>T,MODERATE,,deleterious(0),probably_damaging(1),1;LIAS,downstream_gene_variant,,ENST00000515061,,,MODIFIER,,,,1;LIAS,upstream_gene_variant,,ENST00000639614,,,MODIFIER,,,,1;LIAS,3_prime_UTR_variant,,ENST00000639422,,c.*110C>T,MODIFIER,,,,1;LIAS,3_prime_UTR_variant,,ENST00000640689,,c.*1138C>T,MODIFIER,,,,1;LIAS,3_prime_UTR_variant,,ENST00000638422,,c.*277C>T,MODIFIER,,,,1;LIAS,3_prime_UTR_variant,,ENST00000638430,,c.*357C>T,MODIFIER,,,,1;LIAS,3_prime_UTR_variant,,ENST00000638816,,c.*153C>T,MODIFIER,,,,1;LIAS,non_coding_transcript_exon_variant,,ENST00000640381,,n.1595C>T,MODIFIER,,,,1;LIAS,non_coding_transcript_exon_variant,,ENST00000640816,,n.1162C>T,MODIFIER,,,,1;LIAS,non_coding_transcript_exon_variant,,ENST00000639475,,n.807C>T,MODIFIER,,,,1;LIAS,downstream_gene_variant,,ENST00000638837,,,MODIFIER,,,,1","T","ENSG00000121897","ENST00000261434","Transcript","missense_variant","missense_variant","476/1258","445/810","149/269","R/W","Cgg/Tgg","rs775053206;COSV54695847",null,1,"LIAS","HGNC","HGNC:16429","protein_coding",null,"CCDS87218.1","ENSP00000261434",null,"A0A1X7SBR7.17","UPI0007DC7346",null,"NM_001363700.2",{"$nulls":3},"deleterious(0)","probably_damaging(0.999)","2024-05-08",null,"PANTHER:PTHR10949:SF0;PANTHER:PTHR10949;Pfam:PF04055;Gene3D:3.20.20.70;SMART:SM00729;Superfamily:SSF102114",{"$nulls":8},"1.603e-05",0,0,0,0,0,"3.538e-05",0,0,"3.538e-05","gnomAD_NFE","1.3522299923351966e-05","2.4323799152625725e-05",0,"6.627779657719657e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"ATCCTCGGGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4124601","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRXCR1",389207,"BI","GRCh38","chr4",43030451,43030451,"+","Nonsense_Mutation","SNP","C","C","T","rs761349153",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.784C>T","p.Arg262Ter","p.R262*","ENST00000399770","2024-04-04",184,140,43,210,null,null,"GRXCR1,stop_gained,p.R262*,ENST00000399770,NM_001080476.3,c.784C>T,HIGH,YES,,,1","T","ENSG00000215203","ENST00000399770","Transcript","stop_gained","stop_gained","1338/1545","784/873","262/290","R/*","Cga/Tga","rs761349153;CM153971;COSV67670021",null,1,"GRXCR1","HGNC","HGNC:31673","protein_coding","YES","CCDS43225.1","ENSP00000382670","A8MXD5.104",null,"UPI00004191A5",null,"NM_001080476.3","NM_001080476.3","P1",{"$nulls":3},"2024-04-04",null,"CDD:cd03031;PANTHER:PTHR46990",{"$nulls":8},"3.207e-05",0,"2.896e-05",0,0.0001669,0,"2.65e-05",0,"3.268e-05",0.0001669,"gnomAD_EAS","2.0294999558245763e-05",0,0,0,0,0,0,0,"4.629340037354268e-05",0,0,"4.629340037354268e-05","nfe","likely_pathogenic","0;0;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"1;1;1",1,"TGTTTCGAAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM174288","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCTD8",386617,"BI","GRCh38","chr4",44448441,44448441,"+","Missense_Mutation","SNP","G","G","A","rs868320335",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.83C>T","p.Ala28Val","p.A28V","ENST00000360029","2024-01-02",18,11,7,26,null,null,"KCTD8,missense_variant,p.A28V,ENST00000360029,NM_198353.3,c.83C>T,MODERATE,YES,tolerated_low_confidence(0.26),benign(0.379),-1;KCTD8,upstream_gene_variant,,ENST00000515268,,,MODIFIER,,,,-1","A","ENSG00000183783","ENST00000360029","Transcript","missense_variant","missense_variant","369/2595","83/1422","28/473","A/V","gCg/gTg","rs868320335;COSV63590671",null,-1,"KCTD8","HGNC","HGNC:22394","protein_coding","YES","CCDS3467.1","ENSP00000353129","Q6ZWB6.119",null,"UPI00001C08D6",null,"NM_198353.3","NM_198353.3","P1",null,"tolerated_low_confidence(0.26)","benign(0.379)","2024-01-02",null,"PANTHER:PTHR14499:SF68;PANTHER:PTHR14499;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCGACGCGCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2848254","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GABRA2",2555,"BI","GRCh38","chr4",46312573,46312573,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.399del","p.Lys133AsnfsTer3","p.K133Nfs*3","ENST00000356504","2024-04-09",105,70,35,114,null,null,"GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000381620,NM_001377154.1&NM_001377146.1&NM_001377152.1&NM_000807.4,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000510861,,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000514090,NM_001377150.1&NM_001377147.1&NM_001377148.1&NM_001377153.1&NM_001377149.1,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000356504,NM_001114175.3&NM_001377151.1,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K49Nfs*3,ENST00000540012,,c.147del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000515082,NM_001377155.1,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000507069,NM_001377145.1&NM_001286827.3&NM_001377144.1&NM_001330690.2,c.399del,HIGH,YES,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000503806,,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000506961,,c.399del,HIGH,,,,-1;GABRA2,frameshift_variant,p.K133Nfs*3,ENST00000510233,,c.399del,HIGH,,,,-1;GABRA2,3_prime_UTR_variant,,ENST00000630416,,c.*130del,MODIFIER,,,,-1;GABRA2,3_prime_UTR_variant,,ENST00000513005,,c.*130del,MODIFIER,,,,-1;GABRA2,3_prime_UTR_variant,,ENST00000514193,,c.*130del,MODIFIER,,,,-1","-","ENSG00000151834","ENST00000356504","Transcript","frameshift_variant","frameshift_variant","1072/2770","399/1356","133/451","K/X","aaA/aa",null,null,-1,"GABRA2","HGNC","HGNC:4076","protein_coding",null,"CCDS3471.1","ENSP00000348897","P47869.187","A0A024R9X6.49","UPI000013DC88","P47869-1","NM_001114175.3;NM_001377151.1",null,"P1",{"$nulls":3},"2024-04-09",null,"Gene3D:2.70.170.10;Pfam:PF02931;PANTHER:PTHR18945;PANTHER:PTHR18945:SF218;Superfamily:SSF63712;TIGRFAM:TIGR00860;CDD:cd19035",{"$nulls":41},"HIGH",null,"deletion",2,null,null,1,"TACTGATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1429850;COSM5129197","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CENPC",1060,"BI","GRCh38","chr4",67519428,67519428,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.406del","p.Ile136TyrfsTer6","p.I136Yfs*6","ENST00000273853","2024-06-19",35,25,10,29,null,null,"CENPC,frameshift_variant,p.I136Yfs*6,ENST00000273853,NM_001362481.2&NM_001812.4,c.406del,HIGH,YES,,,-1;CENPC,frameshift_variant,p.I136Yfs*6,ENST00000506882,,c.406del,HIGH,,,,-1;CENPC,frameshift_variant,p.I43Yfs*6,ENST00000513216,,c.127del,HIGH,,,,-1;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,,n.554del,MODIFIER,,,,-1","-","ENSG00000145241","ENST00000273853","Transcript","frameshift_variant","frameshift_variant","554/6823","406/2832","136/943","I/X","Ata/ta",null,null,-1,"CENPC","HGNC","HGNC:1854","protein_coding","YES","CCDS47063.1","ENSP00000273853","Q03188.173",null,"UPI00004135A3","Q03188-1","NM_001362481.2;NM_001812.4","NM_001812.4","P1",{"$nulls":3},"2024-06-19",null,"PANTHER:PTHR16684;PANTHER:PTHR16684:SF12;Pfam:PF15622",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TTGATATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SDAD1",55153,"BI","GRCh38","chr4",75970368,75970368,"+","Frame_Shift_Del","DEL","T","T","-","rs763181092",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.824del","p.Lys275ArgfsTer15","p.K275Rfs*15","ENST00000356260","2024-10-22",67,50,17,39,null,null,"SDAD1,frameshift_variant,p.K275Rfs*15,ENST00000356260,NM_001288984.1&NM_018115.4,c.824del,HIGH,YES,,,-1;SDAD1,frameshift_variant,p.K238Rfs*15,ENST00000395711,NM_001288983.1,c.713del,HIGH,,,,-1;SDAD1,non_coding_transcript_exon_variant,,ENST00000513089,,n.188del,MODIFIER,,,,-1;SDAD1,non_coding_transcript_exon_variant,,ENST00000507396,,n.289del,MODIFIER,,,,-1;SDAD1,downstream_gene_variant,,ENST00000515836,,,MODIFIER,,,,-1;SDAD1,3_prime_UTR_variant,,ENST00000395710,,c.*680del,MODIFIER,,,,-1;SDAD1,downstream_gene_variant,,ENST00000503411,,,MODIFIER,,,,-1","-","ENSG00000198301","ENST00000356260","Transcript","frameshift_variant","frameshift_variant","928/3003","824/2064","275/687","K/X","aAg/ag","rs763181092",null,-1,"SDAD1","HGNC","HGNC:25537","protein_coding","YES","CCDS3573.2","ENSP00000348596","Q9NVU7.143",null,"UPI000020B02A","Q9NVU7-1","NM_001288984.1;NM_018115.4","NM_018115.4","P1",{"$nulls":3},"2024-10-22",null,"PANTHER:PTHR12730;PANTHER:PTHR12730:SF1;Superfamily:SSF48371;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TTCTTCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2831952","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["NAA11",84779,"BI","GRCh38","chr4",79325634,79325634,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.244C>T","p.Arg82Trp","p.R82W","ENST00000286794","2024-01-02",103,71,32,93,null,null,"NAA11,missense_variant,p.R82W,ENST00000286794,NM_032693.3,c.244C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;NAA11,upstream_gene_variant,,ENST00000513733,,,MODIFIER,,,,-1;NAA11,upstream_gene_variant,,ENST00000511542,,,MODIFIER,,,,-1","A","ENSG00000156269","ENST00000286794","Transcript","missense_variant","missense_variant","428/2031","244/690","82/229","R/W","Cgg/Tgg","COSV54514136;COSV54514397",null,-1,"NAA11","HGNC","HGNC:28125","protein_coding","YES","CCDS47084.1","ENSP00000286794","Q9BSU3.136",null,"UPI00000467CA",null,"NM_032693.3","NM_032693.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-01-02",null,"PROSITE_profiles:PS51186;CDD:cd04301;PANTHER:PTHR23091;PANTHER:PTHR23091:SF282;Gene3D:3.40.630.30;Pfam:PF00583;Superfamily:SSF55729",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"GCGCCGGTGTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4126198","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DKK2",27123,"BI","GRCh38","chr4",106924081,106924081,"+","Missense_Mutation","SNP","C","C","T","rs1224653488",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.653G>A","p.Arg218His","p.R218H","ENST00000285311","2024-04-04",140,107,33,166,null,null,"DKK2,missense_variant,p.R218H,ENST00000285311,NM_014421.3,c.653G>A,MODERATE,YES,deleterious(0),probably_damaging(0.98),-1;DKK2,missense_variant,p.R118H,ENST00000513208,,c.353G>A,MODERATE,,tolerated(0.17),probably_damaging(0.98),-1;DKK2,missense_variant,p.R172H,ENST00000510463,,c.515G>A,MODERATE,,deleterious(0.02),probably_damaging(0.996),-1;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,,n.1214G>A,MODIFIER,,,,-1;AC092445.1,intron_variant,,ENST00000650850,,n.931+3893C>T,MODIFIER,YES,,,1","T","ENSG00000155011","ENST00000285311","Transcript","missense_variant","missense_variant","1375/3654","653/780","218/259","R/H","cGc/cAc","rs1224653488;COSV53398183;COSV53400723",null,-1,"DKK2","HGNC","HGNC:2892","protein_coding","YES","CCDS3675.1","ENSP00000285311","Q9UBU2.153",null,"UPI0000048EF2",null,"NM_014421.3","NM_014421.3","P1",null,"deleterious(0)","probably_damaging(0.98)","2024-04-04",null,"Gene3D:2.10.80.10;PANTHER:PTHR12113;PANTHER:PTHR12113:SF12",{"$nulls":8},"3.983e-06",0,0,0,0,0,"8.821e-06",0,0,"8.821e-06","gnomAD_NFE",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"TCTTGCGTTGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4121195","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EGF",1950,"BI","GRCh38","chr4",109943970,109943970,"+","Missense_Mutation","SNP","G","G","A","rs373552129",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.638G>A","p.Arg213Gln","p.R213Q","ENST00000265171","2024-04-24",66,48,18,64,null,null,"EGF,missense_variant,p.R213Q,ENST00000265171,NM_001963.6,c.638G>A,MODERATE,YES,deleterious(0.01),benign(0.106),1;EGF,missense_variant,p.R213Q,ENST00000652245,NM_001357021.2,c.638G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.873),1;EGF,missense_variant,p.R213Q,ENST00000509793,NM_001178131.3,c.638G>A,MODERATE,,deleterious(0.01),benign(0.213),1;EGF,missense_variant,p.R213Q,ENST00000503392,NM_001178130.3,c.638G>A,MODERATE,,deleterious(0.01),benign(0.106),1;EGF,non_coding_transcript_exon_variant,,ENST00000502723,,n.681G>A,MODIFIER,,,,1","A","ENSG00000138798","ENST00000265171","Transcript","missense_variant","missense_variant","1091/6388","638/3624","213/1207","R/Q","cGg/cAg","rs373552129",null,1,"EGF","HGNC","HGNC:3229","protein_coding","YES","CCDS3689.1","ENSP00000265171","P01133.220",null,"UPI000013D5C8","P01133-1","NM_001963.6","NM_001963.6","P1",null,"deleterious(0.01)","benign(0.106)","2024-04-24",null,"Gene3D:2.120.10.30;PIRSF:PIRSF001778;PROSITE_profiles:PS51120;PANTHER:PTHR46513;PANTHER:PTHR46513:SF5;SMART:SM00135;Superfamily:SSF57184;Superfamily:SSF63825",{"$nulls":6},0.000227,0.0002326,"3.977e-05",0.000123,"2.891e-05",0,0,0,"2.637e-05",0.0004888,"3.266e-05",0.0004888,"gnomAD_OTH","6.088980080676265e-05",0.000146099002449773,0,0,0,0,0,0,"3.086610013269819e-05",0.000495049986056983,0,0.000146099002449773,"afr",{"$nulls":9},"MODERATE",1,"SNV",1,null,null,1,"TAAGCGGCTGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4121342","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KIAA1109",84162,"BI","GRCh38","chr4",122286585,122286585,"+","Missense_Mutation","SNP","C","C","T","rs1173813709",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.9082C>T","p.Arg3028Cys","p.R3028C","ENST00000264501","53/86",109,75,34,149,null,null,"KIAA1109,missense_variant,p.R3028C,ENST00000264501,,c.9082C>T,MODERATE,YES,tolerated(0.3),benign(0),1;KIAA1109,missense_variant,p.R3028C,ENST00000388738,NM_015312.3,c.9082C>T,MODERATE,,tolerated(0.3),benign(0),1;KIAA1109,missense_variant,p.R986C,ENST00000419325,,c.2956C>T,MODERATE,,tolerated(0.21),benign(0.013),1","T","ENSG00000138688","ENST00000264501","Transcript","missense_variant","missense_variant","9455/15896","9082/15018","3028/5005","R/C","Cgt/Tgt","rs1173813709;COSV52678142",null,1,"KIAA1109","HGNC","HGNC:26953","protein_coding","YES","CCDS43267.1","ENSP00000264501","Q2LD37.118",null,"UPI0000DD87B4","Q2LD37-1",null,null,"P1",null,"tolerated(0.3)","benign(0)","53/86",null,"PANTHER:PTHR31640",{"$nulls":8},"4.048e-06","6.457e-05",0,0,0,0,0,0,0,"6.457e-05","gnomAD_AFR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"GATTGCGTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM202929;COSM4121817","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAT4",79633,"BI","GRCh38","chr4",125321345,125321345,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4934G>A","p.Gly1645Asp","p.G1645D","ENST00000394329","2024-02-18",118,85,32,127,null,null,"FAT4,missense_variant,p.G1645D,ENST00000394329,NM_001291303.3&NM_001291285.2&NM_024582.5,c.4934G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;FAT4,intron_variant,,ENST00000674496,,c.-55+5368G>A,MODIFIER,,,,1;FAT4,non_coding_transcript_exon_variant,,ENST00000678072,,n.2540G>A,MODIFIER,,,,1","A","ENSG00000196159","ENST00000394329","Transcript","missense_variant","missense_variant","5969/17151","4934/14952","1645/4983","G/D","gGc/gAc","COSV67889691",null,1,"FAT4","HGNC","HGNC:23109","protein_coding","YES",null,"ENSP00000377862","Q6V0I7.154",null,"UPI000387DB11","Q6V0I7-1","NM_001291303.3;NM_001291285.2;NM_024582.5","NM_001291303.3","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-02-18",null,"Gene3D:2.60.40.60;PROSITE_profiles:PS50268;PANTHER:PTHR24025;PANTHER:PTHR24025:SF19;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CATTGGCACAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4121965;COSM4121966","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NAA15",80155,"BI","GRCh38","chr4",139349564,139349564,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.798del","p.Ala267HisfsTer8","p.A267Hfs*8","ENST00000296543","2024-07-20",57,40,17,40,null,null,"NAA15,frameshift_variant,p.A267Hfs*8,ENST00000296543,NM_057175.5,c.798del,HIGH,YES,,,1;NAA15,frameshift_variant,p.A267Hfs*8,ENST00000398947,,c.798del,HIGH,,,,1;NAA15,non_coding_transcript_exon_variant,,ENST00000480277,,n.634del,MODIFIER,,,,1;NAA15,upstream_gene_variant,,ENST00000468029,,,MODIFIER,,,,1","-","ENSG00000164134","ENST00000296543","Transcript","frameshift_variant","frameshift_variant","1067/6174","794/2601","265/866","E/X","gAa/ga",null,null,1,"NAA15","HGNC","HGNC:30782","protein_coding","YES","CCDS43270.1","ENSP00000296543","Q9BXJ9.179",null,"UPI000004B631","Q9BXJ9-1","NM_057175.5","NM_057175.5","P3",{"$nulls":3},"2024-07-20",null,"PDB-ENSP_mappings:6c95.A;PDB-ENSP_mappings:6c9m.A;PDB-ENSP_mappings:6c9m.C;PDB-ENSP_mappings:6ppl.B;PDB-ENSP_mappings:6pw9.B;PANTHER:PTHR22767;PANTHER:PTHR22767:SF6;Gene3D:1.25.40.1040;PIRSF:PIRSF000422;Pfam:PF12569;Superfamily:SSF48452",{"$nulls":41},"HIGH",1,"deletion",1,4,null,1,"GCTTGGAAAAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RAB33B",83452,"BI","GRCh38","chr4",139473037,139473037,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.601A>G","p.Ser201Gly","p.S201G","ENST00000305626","2024-02-02",128,81,47,144,null,null,"RAB33B,missense_variant,p.S201G,ENST00000305626,NM_031296.3,c.601A>G,MODERATE,,deleterious(0.03),benign(0.172),1;RAB33B,missense_variant,p.S249G,ENST00000652268,,c.745A>G,MODERATE,YES,deleterious(0.02),benign(0.188),1","G","ENSG00000172007","ENST00000305626","Transcript","missense_variant","missense_variant","676/4248","601/690","201/229","S/G","Agc/Ggc","COSV59777520",null,1,"RAB33B","HGNC","HGNC:16075","protein_coding",null,"CCDS3747.1","ENSP00000306496","Q9H082.170",null,"UPI000000123D",null,"NM_031296.3","NM_031296.3","P1",null,"deleterious(0.03)","benign(0.172)","2024-02-02",null,"PROSITE_profiles:PS51419;CDD:cd04115;PANTHER:PTHR24073:SF378;PANTHER:PTHR24073;Gene3D:3.40.50.300;SMART:SM00175;SMART:SM00176;SMART:SM00173;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TTAAGAGCCAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4122409","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MGST2",4258,"BI","GRCh38","chr4",139703529,139703529,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.309del","p.Lys103AsnfsTer8","p.K103Nfs*8","ENST00000265498","2024-04-05",67,50,17,71,null,null,"MGST2,frameshift_variant,p.K103Nfs*8,ENST00000616265,NM_001204366.1&NM_001204367.1,c.309del,HIGH,YES,,,1;MGST2,frameshift_variant,p.K103Nfs*8,ENST00000265498,NM_002413.5,c.309del,HIGH,,,,1;MGST2,frameshift_variant,,ENST00000506797,NM_001204368.2,c.*4del,HIGH,,,,1;MGST2,non_coding_transcript_exon_variant,,ENST00000515137,,n.296del,MODIFIER,,,,1;MGST2,non_coding_transcript_exon_variant,,ENST00000515067,,n.382del,MODIFIER,,,,1;MGST2,frameshift_variant,p.K103Nfs*8,ENST00000503816,,c.309del,HIGH,,,,1;H3P16,upstream_gene_variant,,ENST00000230495,,,MODIFIER,YES,,,-1","-","ENSG00000085871","ENST00000265498","Transcript","frameshift_variant","frameshift_variant","505/740","304/444","102/147","K/X","Aaa/aa","COSV55498546",null,1,"MGST2","HGNC","HGNC:7063","protein_coding",null,"CCDS3749.1","ENSP00000265498","Q99735.173",null,"UPI000000128A","Q99735-1","NM_002413.5","NM_002413.5","P1",{"$nulls":3},"2024-04-05",null,"PANTHER:PTHR10250:SF13;PANTHER:PTHR10250;Gene3D:1.20.120.550;Pfam:PF01124;Superfamily:SSF161084;Prints:PR00488",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"deletion",1,5,1,null,"GCTGCTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1427202","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MAML3",55534,"BI","GRCh38","chr4",139889477,139889478,"+","In_Frame_Ins","INS","-","-","GGT","rs777873701",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1956_1958dup","p.Pro654dup","p.P654dup","ENST00000509479","2024-02-05",47,40,7,44,null,null,"MAML3,inframe_insertion,p.P654dup,ENST00000509479,NM_018717.5,c.1956_1958dup,MODERATE,YES,,,-1;MAML3,inframe_insertion,p.P182dup,ENST00000398940,,c.540_542dup,MODERATE,,,,-1;MAML3,intron_variant,,ENST00000502696,,c.111-158813_111-158811dup,MODIFIER,,,,-1","GGT","ENSG00000196782","ENST00000509479","Transcript","inframe_insertion","inframe_insertion","2815-2816/6844","1958-1959/3417","653/1138","P/PP","cct/ccACCt","rs777873701",null,-1,"MAML3","HGNC","HGNC:16272","protein_coding","YES","CCDS54805.1","ENSP00000421180","Q96JK9.142",null,"UPI00001C1E1E",null,"NM_018717.5","NM_018717.5","P1",{"$nulls":3},"2024-02-05",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR15692:SF8;PANTHER:PTHR15692",{"$nulls":8},0.0001365,0,0.0001737,0,0,0,0.0001067,0.0001646,0.0004902,0.0004902,"gnomAD_SAS","8.802580123301595e-05","4.872110002906993e-05",0,0.000199282992980442,0,0,0,0,1.08081003418192E-4,0,2.09820005693472E-4,0.000199282992980442,"amr",{"$nulls":9},"MODERATE",1,"insertion",1,{"$nulls":3},"TGTGGAGGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM5834775;COSM5834776;COSM5834777;COSM5834778","N","Unknown",{"$nulls":3},"pindel;varscan2"]
["ZNF330",27309,"BI","GRCh38","chr4",141222378,141222378,"+","Frame_Shift_Del","DEL","A","A","-","rs770975379",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.14del","p.Lys5ArgfsTer18","p.K5Rfs*18","ENST00000262990","2024-02-10",31,22,9,48,null,null,"ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000262990,NM_014487.6&NM_001292002.2,c.14del,HIGH,YES,,,1;ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000512809,,c.14del,HIGH,,,,1;ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000503649,,c.14del,HIGH,,,,1;ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000512738,,c.14del,HIGH,,,,1;ZNF330,non_coding_transcript_exon_variant,,ENST00000515453,,n.201del,MODIFIER,,,,1;ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000506302,,c.14del,HIGH,,,,1;ZNF330,frameshift_variant,p.K5Rfs*18,ENST00000507532,,c.14del,HIGH,,,,1;ZNF330,non_coding_transcript_exon_variant,,ENST00000514826,,n.242del,MODIFIER,,,,1","-","ENSG00000109445","ENST00000262990","Transcript","frameshift_variant","frameshift_variant","227/1891","7/963","3/320","K/X","Aaa/aa","rs770975379",null,1,"ZNF330","HGNC","HGNC:15462","protein_coding","YES","CCDS3754.1","ENSP00000262990","Q9Y3S2.142",null,"UPI000006E4AB",null,"NM_014487.6;NM_001292002.2","NM_014487.6","P1",{"$nulls":3},"2024-02-10",null,"Pfam:PF06524;PANTHER:PTHR13214;MobiDB_lite:mobidb-lite",{"$nulls":8},"3.287e-05","6.275e-05",0.0001213,0,"5.61e-05",0,"9.107e-06",0,"3.358e-05",0.0001213,"gnomAD_AMR","6.790709903725656e-06",0,0,"6.652469892287627e-05",0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,7,null,null,"ATGCCTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM205433","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LRBA",987,"BI","GRCh38","chr4",150849468,150849468,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4112C>A","p.Ala1371Asp","p.A1371D","ENST00000357115","25/58",116,80,36,139,null,null,"LRBA,missense_variant,p.A1371D,ENST00000357115,NM_006726.4,c.4112C>A,MODERATE,YES,deleterious(0),possibly_damaging(0.578),-1;LRBA,missense_variant,p.A1371D,ENST00000651943,NM_001367550.1&NM_001364905.1,c.4112C>A,MODERATE,,deleterious(0),possibly_damaging(0.747),-1;LRBA,missense_variant,p.A1371D,ENST00000510413,NM_001199282.2,c.4112C>A,MODERATE,,deleterious(0),possibly_damaging(0.758),-1;LRBA,missense_variant,p.A1371D,ENST00000507224,,c.4112C>A,MODERATE,,deleterious(0),possibly_damaging(0.747),-1;LRBA,missense_variant,p.A609D,ENST00000651695,,c.1826C>A,MODERATE,,deleterious(0),possibly_damaging(0.861),-1;LRBA,missense_variant,p.A24D,ENST00000509835,,c.71C>A,MODERATE,,deleterious(0),possibly_damaging(0.783),-1;LRBA,upstream_gene_variant,,ENST00000502839,,,MODIFIER,,,,-1;LRBA,missense_variant,p.A1371D,ENST00000651035,,c.4112C>A,MODERATE,,deleterious(0),probably_damaging(0.928),-1","T","ENSG00000198589","ENST00000357115","Transcript","missense_variant","missense_variant","4586/10353","4112/8592","1371/2863","A/D","gCt/gAt","COSV63957351",null,-1,"LRBA","HGNC","HGNC:1742","protein_coding","YES","CCDS3773.1","ENSP00000349629","P50851.192",null,"UPI000013E35C","P50851-1","NM_006726.4",null,"A2",null,"deleterious(0)","possibly_damaging(0.578)","25/58",null,"PANTHER:PTHR13743;PANTHER:PTHR13743:SF62",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CACAAGCCATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4122724","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FBXW7",55294,"BI","GRCh38","chr4",152328233,152328233,"+","Missense_Mutation","SNP","G","G","A","rs867384286",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1393C>T","p.Arg465Cys","p.R465C","ENST00000281708","2024-11-14",256,171,84,242,null,null,"FBXW7,missense_variant,p.R465C,ENST00000603548,NM_033632.3,c.1393C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;FBXW7,missense_variant,p.R465C,ENST00000281708,NM_001349798.2,c.1393C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;FBXW7,missense_variant,p.R385C,ENST00000393956,NM_018315.5,c.1153C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;FBXW7,missense_variant,p.R347C,ENST00000296555,NM_001013415.2,c.1039C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;FBXW7,missense_variant,p.R465C,ENST00000603841,,c.1393C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;FBXW7,non_coding_transcript_exon_variant,,ENST00000647183,,n.942C>T,MODIFIER,,,,-1;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,,n.841C>T,MODIFIER,,,,-1;FBXW7,non_coding_transcript_exon_variant,,ENST00000604069,,n.580C>T,MODIFIER,,,,-1;FBXW7,upstream_gene_variant,,ENST00000604316,,,MODIFIER,,,,-1","A","ENSG00000109670","ENST00000281708","Transcript","missense_variant","missense_variant","2571/5639","1393/2124","465/707","R/C","Cgt/Tgt","rs867384286;COSV55891008;COSV55897912;COSV99654845",null,-1,"FBXW7","HGNC","HGNC:16712","protein_coding",null,"CCDS3777.1","ENSP00000281708","Q969H0.184",null,"UPI000007007E","Q969H0-1","NM_001349798.2","NM_001349798.2",null,null,"deleterious(0)","probably_damaging(1)","2024-11-14",null,"Gene3D:2.130.10.10;PDB-ENSP_mappings:2ovp.B;PDB-ENSP_mappings:2ovq.B;PDB-ENSP_mappings:2ovr.B;PDB-ENSP_mappings:5v4b.B;Pfam:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;PANTHER:PTHR44129;PANTHER:PTHR44129:SF9;SMART:SM00320;Superfamily:SSF50978;CDD:cd00200",{"$nulls":8},"4.325e-06",0,0,0,0,0,0,0,"3.714e-05","3.714e-05","gnomAD_SAS",{"$nulls":13},"likely_pathogenic","0;1;1;1",26619011,{"$nulls":6},"MODERATE",null,"SNV",1,null,"1;1;1;1",1,"ACAACGCACAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1154293;COSM170725;COSM170726;COSM170727;COSM22932","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAP9",79884,"BI","GRCh38","chr4",155352717,155352717,"+","Frame_Shift_Del","DEL","T","T","-","rs1215313075",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1700del","p.Lys567ArgfsTer13","p.K567Rfs*13","ENST00000311277","13/14",61,41,20,49,null,null,"MAP9,frameshift_variant,p.K567Rfs*13,ENST00000311277,NM_001039580.2,c.1700del,HIGH,YES,,,-1;MAP9,frameshift_variant,p.K567Rfs*13,ENST00000650955,,c.1700del,HIGH,,,,-1;MAP9,frameshift_variant,p.K543Rfs*13,ENST00000515654,,c.1628del,HIGH,,,,-1;MAP9,downstream_gene_variant,,ENST00000433024,,,MODIFIER,,,,-1;MAP9,upstream_gene_variant,,ENST00000503466,,,MODIFIER,,,,-1;MAP9,3_prime_UTR_variant,,ENST00000424373,,c.*400del,MODIFIER,,,,-1;AC097467.3,intron_variant,,ENST00000593387,,n.559+369del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000597939,,n.540-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000598252,,n.450-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000601977,,n.369-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000608092,,n.467+369del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000608406,,n.303-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000608463,,n.689+369del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000608544,,n.496-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000608762,,n.340+3266del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000609254,,n.436+369del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000609486,,n.576-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000609716,,n.492+369del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000610249,,n.834-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000630664,,n.209-1486del,MODIFIER,,,,1;AC097467.3,intron_variant,,ENST00000652141,,n.977+369del,MODIFIER,YES,,,1;AC097467.3,upstream_gene_variant,,ENST00000417474,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000594492,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000594666,,,MODIFIER,,,,1;AC097467.3,downstream_gene_variant,,ENST00000595229,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000596165,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000596754,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000597831,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000598890,,,MODIFIER,,,,1;AC097467.3,downstream_gene_variant,,ENST00000599555,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000600928,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000615177,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000616083,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000616339,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000618478,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000618537,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000620130,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000621683,,,MODIFIER,,,,1;AC097467.3,upstream_gene_variant,,ENST00000629939,,,MODIFIER,,,,1","-","ENSG00000164114","ENST00000311277","Transcript","frameshift_variant","frameshift_variant","1959/7328","1700/1944","567/647","K/X","aAg/ag","rs1215313075",null,-1,"MAP9","HGNC","HGNC:26118","protein_coding","YES","CCDS35493.1","ENSP00000310593","Q49MG5.110",null,"UPI000020B618","Q49MG5-1","NM_001039580.2","NM_001039580.2","P2",{"$nulls":3},"13/14",null,"PANTHER:PTHR14739;Low_complexity_(Seg):seg",{"$nulls":8},"4.431e-06",0,0,0,0,"5.257e-05",0,0,0,"5.257e-05","gnomAD_FIN",{"$nulls":22},"HIGH",1,"deletion",1,{"$nulls":3},"GCTTCCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1428159","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["GASK1B",51313,"BI","GRCh38","chr4",158170621,158170621,"+","Frame_Shift_Del","DEL","C","C","-","rs762957217",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.755del","p.Gly252AlafsTer23","p.G252Afs*23","ENST00000296530","2024-02-05",55,39,16,57,null,null,"GASK1B,frameshift_variant,p.G252Afs*23,ENST00000296530,NM_016613.7,c.755del,HIGH,,,,-1;GASK1B,frameshift_variant,p.G252Afs*23,ENST00000585682,NM_001128424.2,c.755del,HIGH,,,,-1;GASK1B,frameshift_variant,p.G252Afs*23,ENST00000393807,NM_001031700.3,c.755del,HIGH,YES,,,-1;GASK1B,frameshift_variant,p.G252Afs*23,ENST00000592057,,c.755del,HIGH,,,,-1;GASK1B,downstream_gene_variant,,ENST00000587787,,,MODIFIER,,,,-1;GASK1B,upstream_gene_variant,,ENST00000592586,,,MODIFIER,,,,-1;GASK1B,upstream_gene_variant,,ENST00000593260,,,MODIFIER,,,,-1;GASK1B,intron_variant,,ENST00000589306,,n.156+2247del,MODIFIER,,,,-1;FAM198B-AS1,upstream_gene_variant,,ENST00000503611,,,MODIFIER,YES,,,1;FAM198B-AS1,upstream_gene_variant,,ENST00000505532,,,MODIFIER,,,,1;FAM198B-AS1,upstream_gene_variant,,ENST00000509463,,,MODIFIER,,,,1;FAM198B-AS1,upstream_gene_variant,,ENST00000514381,,,MODIFIER,,,,1","-","ENSG00000164125","ENST00000296530","Transcript","frameshift_variant","frameshift_variant","1377/4985","755/1560","252/519","G/X","gGc/gc","rs762957217",null,-1,"GASK1B","HGNC","HGNC:25312","protein_coding",null,"CCDS3798.1","ENSP00000296530","Q6UWH4.120",null,"UPI000004C63B","Q6UWH4-1","NM_016613.7",null,"P1",{"$nulls":3},"2024-02-05",null,"Pfam:PF15051;PANTHER:PTHR15905;PANTHER:PTHR15905:SF1",{"$nulls":8},"1.203e-05",0,"8.684e-05",0,0,0,0,0,0,"8.684e-05","gnomAD_AMR",{"$nulls":22},"HIGH",null,"deletion",1,{"$nulls":3},"GGTGCGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1428278;COSM1428279;COSM1428280","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TLL1",7092,"BI","GRCh38","chr4",166014486,166014486,"+","Missense_Mutation","SNP","G","G","A","rs1175843502",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.968G>A","p.Arg323His","p.R323H","ENST00000061240","2024-08-21",244,152,92,264,null,null,"TLL1,missense_variant,p.R323H,ENST00000061240,NM_012464.5,c.968G>A,MODERATE,,tolerated(0.06),benign(0.012),1;TLL1,missense_variant,p.R323H,ENST00000507499,,c.968G>A,MODERATE,YES,tolerated(0.06),benign(0.033),1;TLL1,missense_variant,p.R323H,ENST00000513213,NM_001204760.2,c.968G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.628),1;TLL1,3_prime_UTR_variant,,ENST00000509505,,c.*613G>A,MODIFIER,,,,1","A","ENSG00000038295","ENST00000061240","Transcript","missense_variant","missense_variant","1636/7291","968/3042","323/1013","R/H","cGt/cAt","rs1175843502;COSV50293938",null,1,"TLL1","HGNC","HGNC:11843","protein_coding",null,"CCDS3811.1","ENSP00000061240","O43897.151",null,"UPI0000072EED","O43897-1","NM_012464.5","NM_012464.5","P1",null,"tolerated(0.06)","benign(0.012)","2024-08-21",null,"Gene3D:3.40.390.10;PDB-ENSP_mappings:3edi.A;Pfam:PF01400;PIRSF:PIRSF001199;PROSITE_profiles:PS51864;PANTHER:PTHR45645;PANTHER:PTHR45645:SF26;Superfamily:SSF55486;CDD:cd04281",{"$nulls":8},"3.982e-06",0,0,0,0,0,0,0,"3.266e-05","3.266e-05","gnomAD_SAS","1.3555500117945485e-05",0,0,0,0,0,"9.446439798921347e-05",0,0,0,0.000208594006835483,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CATACGTCCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4123330","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRAPPC11",60684,"BI","GRCh38","chr4",183693071,183693071,"+","Missense_Mutation","SNP","C","C","T","rs1291703230",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2161C>T","p.Arg721Trp","p.R721W","ENST00000334690","20/30",76,52,24,58,null,null,"TRAPPC11,missense_variant,p.R721W,ENST00000334690,NM_021942.6,c.2161C>T,MODERATE,YES,tolerated(0.08),probably_damaging(0.939),1;TRAPPC11,missense_variant,p.R721W,ENST00000357207,NM_199053.2,c.2161C>T,MODERATE,,tolerated(0.07),probably_damaging(0.996),1;TRAPPC11,missense_variant,p.R327W,ENST00000512476,,c.979C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;TRAPPC11,3_prime_UTR_variant,,ENST00000505676,,c.*275C>T,MODIFIER,,,,1","T","ENSG00000168538","ENST00000334690","Transcript","missense_variant","missense_variant","2337/4523","2161/3402","721/1133","R/W","Cgg/Tgg","rs1291703230;COSV58217093",null,1,"TRAPPC11","HGNC","HGNC:25751","protein_coding","YES","CCDS34112.1","ENSP00000335371","Q7Z392.124",null,"UPI000020B774","Q7Z392-1","NM_021942.6","NM_021942.6","P1",null,"tolerated(0.08)","probably_damaging(0.939)","20/30",null,"PANTHER:PTHR14374",{"$nulls":8},"3.99e-06",0,"2.918e-05",0,0,0,0,0,0,"2.918e-05","gnomAD_AMR","6.762149951100582e-06",0,0,0,0,0,0,0,"1.5429699487867765e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CAGCTCGGTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4123667","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TLR3",7098,"BI","GRCh38","chr4",186078995,186078995,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.603del","p.Lys201AsnfsTer2","p.K201Nfs*2","ENST00000296795","2024-03-05",35,22,13,41,null,null,"TLR3,frameshift_variant,p.K201Nfs*2,ENST00000296795,NM_003265.3,c.603del,HIGH,YES,,,1;TLR3,frameshift_variant,p.K201Nfs*2,ENST00000513189,,c.603del,HIGH,,,,1;TLR3,upstream_gene_variant,,ENST00000504367,,,MODIFIER,,,,1;TLR3,upstream_gene_variant,,ENST00000508051,,,MODIFIER,,,,1;TLR3,upstream_gene_variant,,ENST00000512264,,,MODIFIER,,,,1","-","ENSG00000164342","ENST00000296795","Transcript","frameshift_variant","frameshift_variant","697/6015","597/2715","199/904","L/X","ttA/tt","COSV57170713",null,1,"TLR3","HGNC","HGNC:11849","protein_coding","YES","CCDS3846.1","ENSP00000296795","O15455.200",null,"UPI0000049B3E","O15455-1","NM_003265.3","NM_003265.3","P1",{"$nulls":3},"2024-03-05",null,"PDB-ENSP_mappings:1ziw.A;PDB-ENSP_mappings:2a0z.A;PDB-ENSP_mappings:3ulu.A;PDB-ENSP_mappings:3ulv.A;PDB-ENSP_mappings:5gs0.A;PDB-ENSP_mappings:5gs0.B;Low_complexity_(Seg):seg;PROSITE_profiles:PS51450;PANTHER:PTHR24365:SF524;PANTHER:PTHR24365;Gene3D:3.80.10.10;Pfam:PF13516;SMART:SM00365;SMART:SM00369;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,6,1,1,"ATCTTTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SEMA5A",9037,"BI","GRCh38","chr5",9063030,9063030,"+","Missense_Mutation","SNP","G","G","A","rs2290734",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2375C>T","p.Ser792Leu","p.S792L","ENST00000382496","18/23",40,24,16,55,null,null,"SEMA5A,missense_variant,p.S792L,ENST00000382496,NM_003966.3,c.2375C>T,MODERATE,YES,tolerated(0.15),benign(0.003),-1;SEMA5A,missense_variant,p.S792L,ENST00000652226,,c.2375C>T,MODERATE,,tolerated(0.15),benign(0.003),-1","A","ENSG00000112902","ENST00000382496","Transcript","missense_variant","missense_variant","3041/11755","2375/3225","792/1074","S/L","tCg/tTg","rs2290734;COSV66796225",null,-1,"SEMA5A","HGNC","HGNC:10736","protein_coding","YES","CCDS3875.1","ENSP00000371936","Q13591.188","X5DR95.46","UPI000004F25D",null,"NM_003966.3","NM_003966.3","P1",null,"tolerated(0.15)","benign(0.003)","18/23",null,"Gene3D:2.20.100.10;Pfam:PF00090;Prints:PR01705;PROSITE_profiles:PS50092;PANTHER:PTHR11036;PANTHER:PTHR11036:SF78;SMART:SM00209;Superfamily:SSF82895",{"$nulls":8},"1.194e-05",0,0,"9.929e-05","5.441e-05",0,"8.804e-06",0,0,"9.929e-05","gnomAD_ASJ","6.758859854016919e-06",0,0,"6.621640204684809e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"ACCACGACGTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3141030","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEMA5A",9037,"BI","GRCh38","chr5",9154637,9154637,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1332G>T","p.Leu444Phe","p.L444F","ENST00000382496","2024-12-23",137,94,43,155,null,null,"SEMA5A,missense_variant,p.L444F,ENST00000382496,NM_003966.3,c.1332G>T,MODERATE,YES,deleterious(0.01),benign(0.261),-1;SEMA5A,missense_variant,p.L444F,ENST00000652226,,c.1332G>T,MODERATE,,deleterious(0.01),benign(0.261),-1","A","ENSG00000112902","ENST00000382496","Transcript","missense_variant","missense_variant","1998/11755","1332/3225","444/1074","L/F","ttG/ttT","COSV101227130;COSV66796236",null,-1,"SEMA5A","HGNC","HGNC:10736","protein_coding","YES","CCDS3875.1","ENSP00000371936","Q13591.188","X5DR95.46","UPI000004F25D",null,"NM_003966.3","NM_003966.3","P1",null,"deleterious(0.01)","benign(0.261)","2024-12-23",null,"Gene3D:2.130.10.10;Pfam:PF01403;PROSITE_profiles:PS51004;PANTHER:PTHR11036;PANTHER:PTHR11036:SF78;SMART:SM00630;Superfamily:SSF101912;CDD:cd11263",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"TCCAGCAAACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3856886","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MARCHF6",10299,"BI","GRCh38","chr5",10411474,10411474,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1833A>G","p.Ile611Met","p.I611M","ENST00000274140","19/26",89,83,6,90,null,null,"MARCHF6,missense_variant,p.I611M,ENST00000274140,NM_005885.4,c.1833A>G,MODERATE,YES,tolerated(0.31),benign(0.035),1;MARCHF6,missense_variant,p.I563M,ENST00000449913,NM_001270660.2,c.1689A>G,MODERATE,,tolerated(0.31),benign(0.384),1;MARCHF6,missense_variant,p.I506M,ENST00000503788,NM_001270661.2,c.1518A>G,MODERATE,,tolerated(0.38),benign(0.376),1;MARCHF6,missense_variant,p.I309M,ENST00000510792,,c.927A>G,MODERATE,,tolerated(0.4),benign(0.168),1;MARCHF6,upstream_gene_variant,,ENST00000505253,,,MODIFIER,,,,1;MARCHF6,non_coding_transcript_exon_variant,,ENST00000511802,,n.3233A>G,MODIFIER,,,,1;MARCHF6,non_coding_transcript_exon_variant,,ENST00000512449,,n.266A>G,MODIFIER,,,,1;MARCHF6,upstream_gene_variant,,ENST00000514312,,,MODIFIER,,,,1","G","ENSG00000145495","ENST00000274140","Transcript","missense_variant","missense_variant","2037/9641","1833/2733","611/910","I/M","atA/atG","COSV56882769",null,1,"MARCHF6","HGNC","HGNC:30550","protein_coding","YES","CCDS34135.1","ENSP00000274140","O60337.153",null,"UPI00001B94D6","O60337-4","NM_005885.4","NM_005885.4","P1",null,"tolerated(0.31)","benign(0.035)","19/26",null,"PANTHER:PTHR13145;PANTHER:PTHR13145:SF0",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCCATACTCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4126991","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ROPN1L",83853,"BI","GRCh38","chr5",10450000,10450000,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.304A>G","p.Lys102Glu","p.K102E","ENST00000274134","2024-03-05",104,69,35,97,null,null,"ROPN1L,missense_variant,p.K102E,ENST00000503804,,c.304A>G,MODERATE,YES,deleterious(0.05),benign(0.231),1;ROPN1L,missense_variant,p.K102E,ENST00000274134,NM_031916.5&NM_001201466.2,c.304A>G,MODERATE,,deleterious(0.05),benign(0.231),1;ROPN1L,non_coding_transcript_exon_variant,,ENST00000510520,,n.596A>G,MODIFIER,,,,1;ROPN1L,non_coding_transcript_exon_variant,,ENST00000512022,,n.391A>G,MODIFIER,,,,1;ROPN1L,non_coding_transcript_exon_variant,,ENST00000515762,,n.395A>G,MODIFIER,,,,1","G","ENSG00000145491","ENST00000274134","Transcript","missense_variant","missense_variant","593/1061","304/693","102/230","K/E","Aag/Gag","COSV56874101",null,1,"ROPN1L","HGNC","HGNC:24060","protein_coding",null,"CCDS3879.1","ENSP00000274134","Q96C74.120",null,"UPI000013D9F3",null,"NM_031916.5;NM_001201466.2","NM_031916.5","P1",null,"deleterious(0.05)","benign(0.231)","2024-03-05",null,"PANTHER:PTHR14952;PANTHER:PTHR14952:SF14",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AGTGGAAGAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4126995","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH5",1767,"BI","GRCh38","chr5",13922231,13922231,"+","Missense_Mutation","SNP","G","G","A","rs747116308",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.536C>T","p.Thr179Met","p.T179M","ENST00000265104","5/79",88,69,18,84,null,null,"DNAH5,missense_variant,p.T179M,ENST00000265104,NM_001369.2,c.536C>T,MODERATE,YES,tolerated(0.37),benign(0.003),-1;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,,n.895C>T,MODIFIER,,,,-1","A","ENSG00000039139","ENST00000265104","Transcript","missense_variant","missense_variant","641/15633","536/13875","179/4624","T/M","aCg/aTg","rs747116308;COSV54232720",null,-1,"DNAH5","HGNC","HGNC:2950","protein_coding","YES","CCDS3882.1","ENSP00000265104","Q8TE73.166",null,"UPI0000110101",null,"NM_001369.2",null,"P1",null,"tolerated(0.37)","benign(0.003)","5/79",null,"PANTHER:PTHR46532;PANTHER:PTHR46532:SF3",{"$nulls":8},"1.196e-05",0,0,0,0,0,"8.823e-06",0,"6.533e-05","6.533e-05","gnomAD_SAS","2.0295799913583323e-05","4.868549876846373e-05",0,0,0,0,0,0,"1.5430699932039715e-05",0,0,"4.868549876846373e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"GGCTCGTGGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3850553","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDH10",1008,"BI","GRCh38","chr5",24488110,24488110,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1920del","p.Glu641SerfsTer3","p.E641Sfs*3","ENST00000264463","2024-12-12",58,43,15,69,null,null,"CDH10,frameshift_variant,p.E641Sfs*3,ENST00000264463,NM_001317222.1&NM_001362460.1&NM_001317224.2&NM_006727.5,c.1920del,HIGH,YES,,,-1;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,,n.711del,MODIFIER,,,,-1;CDH10,3_prime_UTR_variant,,ENST00000510477,,c.*472del,MODIFIER,,,,-1;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,,n.443del,MODIFIER,,,,-1","-","ENSG00000040731","ENST00000264463","Transcript","frameshift_variant","frameshift_variant","2428/3438","1920/2367","640/788","K/X","aaA/aa",null,null,-1,"CDH10","HGNC","HGNC:1749","protein_coding","YES","CCDS3892.1","ENSP00000264463","Q9Y6N8.161","X5D8X5.51","UPI0000167B7B",null,"NM_001317222.1;NM_001362460.1;NM_001317224.2;NM_006727.5","NM_006727.5","P1",{"$nulls":3},"2024-12-12",null,"Pfam:PF01049;PANTHER:PTHR24027;PANTHER:PTHR24027:SF290",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"AGGCTCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1436903","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RANBP3L",202151,"BI","GRCh38","chr5",36251457,36251457,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1210C>A","p.His404Asn","p.H404N","ENST00000296604","13/14",66,47,19,73,null,null,"RANBP3L,missense_variant,p.H404N,ENST00000296604,NM_001323278.2&NM_001323279.2&NM_001323273.2&NM_145000.5&NM_001323280.1&NM_001323277.1,c.1210C>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;RANBP3L,missense_variant,p.H429N,ENST00000502994,NM_001323275.2&NM_001161429.3&NM_001323276.1&NM_001323274.1,c.1285C>A,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1","T","ENSG00000164188","ENST00000296604","Transcript","missense_variant","missense_variant","1696/4625","1210/1398","404/465","H/N","Cat/Aat","COSV56956240",null,-1,"RANBP3L","HGNC","HGNC:26353","protein_coding",null,"CCDS3918.1","ENSP00000296604","Q86VV4.135",null,"UPI000020C984","Q86VV4-1","NM_001323278.2;NM_001323279.2;NM_001323273.2;NM_145000.5;NM_001323280.1;NM_001323277.1","NM_145000.5","A2",null,"deleterious(0)","probably_damaging(0.996)","13/14",null,"CDD:cd13180;PANTHER:PTHR23138;PANTHER:PTHR23138:SF88;Gene3D:2.30.29.30;SMART:SM00160;Superfamily:SSF50729",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"ACGATGATGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3854990","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRIM23",373,"BI","GRCh38","chr5",65614189,65614189,"+","Frame_Shift_Del","DEL","T","T","-","rs1465925764",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.275del","p.Asn92IlefsTer69","p.N92Ifs*69","ENST00000231524","2024-03-11",109,75,33,89,null,null,"TRIM23,frameshift_variant,p.N92Ifs*69,ENST00000231524,NM_001656.4,c.275del,HIGH,YES,,,-1;TRIM23,frameshift_variant,p.N92Ifs*69,ENST00000381018,NM_033227.3,c.275del,HIGH,,,,-1;TRIM23,frameshift_variant,p.N92Ifs*69,ENST00000274327,NM_033228.3,c.275del,HIGH,,,,-1;TRIM23,downstream_gene_variant,,ENST00000513794,,,MODIFIER,,,,-1;TRIM23,upstream_gene_variant,,ENST00000508808,,,MODIFIER,,,,-1;TRIM23,frameshift_variant,p.N92Ifs*51,ENST00000505205,,c.275del,HIGH,,,,-1;TRIM23,3_prime_UTR_variant,,ENST00000506400,,c.*7del,MODIFIER,,,,-1","-","ENSG00000113595","ENST00000231524","Transcript","frameshift_variant","frameshift_variant","334/3863","275/1725","92/574","N/X","aAt/at","rs1465925764;COSV51550889",null,-1,"TRIM23","HGNC","HGNC:660","protein_coding","YES","CCDS3987.1","ENSP00000231524","P36406.196",null,"UPI0000125DB3","P36406-1","NM_001656.4","NM_001656.4","P1",{"$nulls":3},"2024-03-11",null,"PDB-ENSP_mappings:5vzv.A;PDB-ENSP_mappings:5vzv.B;PDB-ENSP_mappings:5vzv.C;PDB-ENSP_mappings:5vzw.F;PDB-ENSP_mappings:5vzw.G;Gene3D:3.30.40.10;PANTHER:PTHR11711;PANTHER:PTHR11711:SF163",{"$nulls":8},"3.982e-06",0,0,0,0,0,"8.806e-06",0,0,"8.806e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",null,"GCAAAATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4735981;COSM4735982","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["THBS4",7060,"BI","GRCh38","chr5",80071138,80071138,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1678G>A","p.Asp560Asn","p.D560N","ENST00000350881","13/22",268,195,73,303,null,null,"THBS4,missense_variant,p.D560N,ENST00000350881,NM_003248.6,c.1678G>A,MODERATE,YES,tolerated(0.38),probably_damaging(0.993),1;THBS4,missense_variant,p.D469N,ENST00000511733,NM_001306213.1&NM_001306212.1&NM_001306214.1,c.1405G>A,MODERATE,,tolerated(0.36),probably_damaging(0.993),1;THBS4,upstream_gene_variant,,ENST00000515510,,,MODIFIER,,,,1;THBS4-AS1,intron_variant,,ENST00000503007,,n.168-2364C>T,MODIFIER,,,,-1;THBS4-AS1,intron_variant,,ENST00000514042,,n.911+594C>T,MODIFIER,,,,-1;THBS4-AS1,intron_variant,,ENST00000661210,,n.94-2364C>T,MODIFIER,YES,,,-1","A","ENSG00000113296","ENST00000350881","Transcript","missense_variant","missense_variant","1868/3222","1678/2886","560/961","D/N","Gat/Aat","COSV63469695",null,1,"THBS4","HGNC","HGNC:11788","protein_coding","YES","CCDS4049.1","ENSP00000339730","P35443.193",null,"UPI000013D591",null,"NM_003248.6","NM_003248.6","P1",null,"tolerated(0.38)","probably_damaging(0.993)","13/22",null,"Gene3D:4.10.1080.10;Pfam:PF02412;PROSITE_profiles:PS51234;PANTHER:PTHR10199;PANTHER:PTHR10199:SF92;Superfamily:SSF103647;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGGGGATGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3856581","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ANKRD34B",340120,"BI","GRCh38","chr5",80559218,80559218,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.802C>T","p.Leu268Phe","p.L268F","ENST00000338682","2024-05-05",107,74,33,92,null,null,"ANKRD34B,missense_variant,p.L268F,ENST00000338682,NM_001004441.3,c.802C>T,MODERATE,YES,tolerated(0.06),benign(0.023),-1;ANKRD34B,downstream_gene_variant,,ENST00000508916,,,MODIFIER,,,,-1","A","ENSG00000189127","ENST00000338682","Transcript","missense_variant","missense_variant","1267/3730","802/1545","268/514","L/F","Ctc/Ttc","COSV58614095",null,-1,"ANKRD34B","HGNC","HGNC:33736","protein_coding","YES","CCDS34194.1","ENSP00000339802","A5PLL1.97",null,"UPI00003672FA",null,"NM_001004441.3","NM_001004441.3","P1",null,"tolerated(0.06)","benign(0.023)","2024-05-05",null,"PANTHER:PTHR24156;PANTHER:PTHR24156:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGGAGCTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3856607","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADGRV1",84059,"BI","GRCh38","chr5",90627370,90627370,"+","Missense_Mutation","SNP","A","A","G","rs1258586706",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.832A>G","p.Ile278Val","p.I278V","ENST00000405460","7/90",152,105,47,157,null,null,"ADGRV1,missense_variant,p.I278V,ENST00000405460,NM_032119.4,c.832A>G,MODERATE,YES,tolerated(1),benign(0.001),1;ADGRV1,downstream_gene_variant,,ENST00000508842,,,MODIFIER,,,,1;ADGRV1,non_coding_transcript_exon_variant,,ENST00000640109,,n.928A>G,MODIFIER,,,,1;ADGRV1,non_coding_transcript_exon_variant,,ENST00000640281,,n.891A>G,MODIFIER,,,,1;ADGRV1,non_coding_transcript_exon_variant,,ENST00000640083,,n.537A>G,MODIFIER,,,,1;ADGRV1,upstream_gene_variant,,ENST00000504142,,,MODIFIER,,,,1;ADGRV1,downstream_gene_variant,,ENST00000638316,,,MODIFIER,,,,1;ADGRV1,downstream_gene_variant,,ENST00000638638,,,MODIFIER,,,,1","G","ENSG00000164199","ENST00000405460","Transcript","missense_variant","missense_variant","931/19557","832/18921","278/6306","I/V","Ata/Gta","rs1258586706;COSV67987797",null,1,"ADGRV1","HGNC","HGNC:17416","protein_coding","YES","CCDS47246.1","ENSP00000384582","Q8WXG9.155",null,"UPI00002127A7","Q8WXG9-1","NM_032119.4","NM_032119.4","P1",null,"tolerated(1)","benign(0.001)","7/90",null,"Gene3D:2.60.40.2030;Pfam:PF03160;PANTHER:PTHR46682;Superfamily:SSF141072;Superfamily:SSF141072",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"ACCACATACTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3856814","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FER",2241,"BI","GRCh38","chr5",108832917,108832917,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.355C>T","p.Gln119Ter","p.Q119*","ENST00000281092","2024-04-20",113,78,34,123,null,null,"FER,stop_gained,p.Q119*,ENST00000281092,NM_005246.4&NM_001308028.2,c.355C>T,HIGH,YES,,,1;FER,stop_gained,p.Q119*,ENST00000628534,,c.355C>T,HIGH,,,,1;FER,non_coding_transcript_exon_variant,,ENST00000502752,NM_001308038.2,n.680C>T,MODIFIER,,,,1;FER,non_coding_transcript_exon_variant,,ENST00000509035,,n.574C>T,MODIFIER,,,,1;FER,downstream_gene_variant,,ENST00000513676,,,MODIFIER,,,,1;FER,intron_variant,,ENST00000504143,,c.207+34528C>T,MODIFIER,,,,1;AC008871.1,upstream_gene_variant,,ENST00000510935,,,MODIFIER,YES,,,-1","T","ENSG00000151422","ENST00000281092","Transcript","stop_gained","stop_gained","664/12044","355/2469","119/822","Q/*","Cag/Tag","COSV55294427",null,1,"FER","HGNC","HGNC:3655","protein_coding","YES","CCDS4098.1","ENSP00000281092","P16591.211","W0S0X4.54","UPI000013DC55","P16591-1","NM_005246.4;NM_001308028.2","NM_005246.4","P1",{"$nulls":3},"2024-04-20",null,"Gene3D:1.20.1270.60;PIRSF:PIRSF000632;PROSITE_profiles:PS51741;PANTHER:PTHR24418;PANTHER:PTHR24418:SF227;Superfamily:SSF103657;CDD:cd07686",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"TTCATCAGCAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4127026","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["APC",324,"BI","GRCh38","chr5",112780890,112780890,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.636del","p.Lys212AsnfsTer7","p.K212Nfs*7","ENST00000257430","2024-06-16",38,26,12,28,null,null,"APC,frameshift_variant,p.K212Nfs*7,ENST00000257430,NM_001354895.2&NM_001354906.2&NM_001354896.2&NM_000038.6&NM_001354903.2&NM_001354899.2&NM_001354900.2&NM_001354901.2&NM_001354905.2,c.636del,HIGH,YES,,,1;APC,frameshift_variant,p.K212Nfs*7,ENST00000508376,NM_001127510.3&NM_001354898.2&NM_001354904.2,c.636del,HIGH,,,,1;APC,frameshift_variant,p.K212Nfs*7,ENST00000512211,,c.636del,HIGH,,,,1;APC,frameshift_variant,p.K222Nfs*53,ENST00000507379,NM_001354897.2&NM_001354902.2&NM_001127511.3,c.666del,HIGH,,,,1;RNU6-482P,downstream_gene_variant,,ENST00000391068,,,MODIFIER,YES,,,1;APC,frameshift_variant,p.K212Nfs*7,ENST00000508624,,c.636del,HIGH,,,,1;CBX3P3,upstream_gene_variant,,ENST00000508108,,,MODIFIER,YES,,,-1","-","ENSG00000134982","ENST00000257430","Transcript","frameshift_variant","frameshift_variant","691/10704","632/8532","211/2843","E/X","gAa/ga",null,null,1,"APC","HGNC","HGNC:583","protein_coding","YES","CCDS4107.1","ENSP00000257430","P25054.248",null,"UPI000013CF60","P25054-1","NM_001354895.2;NM_001354906.2;NM_001354896.2;NM_000038.6;NM_001354903.2;NM_001354899.2;NM_001354900.2;NM_001354901.2;NM_001354905.2","NM_000038.6","P1",{"$nulls":3},"2024-06-16",null,"Gene3D:1.10.287.450;PDB-ENSP_mappings:1m5i.A;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR12607;PANTHER:PTHR12607:SF11;Superfamily:SSF82931",{"$nulls":41},"HIGH",1,"deletion",5,4,null,1,"ATATGGAAAAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["APC",324,"BI","GRCh38","chr5",112838900,112838900,"+","Nonsense_Mutation","SNP","C","C","G","rs879254092",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3306C>G","p.Tyr1102Ter","p.Y1102*","ENST00000257430","16/16",126,119,6,131,null,null,"APC,stop_gained,p.Y1102*,ENST00000257430,NM_001354895.2&NM_001354906.2&NM_001354896.2&NM_000038.6&NM_001354903.2&NM_001354899.2&NM_001354900.2&NM_001354901.2&NM_001354905.2,c.3306C>G,HIGH,YES,,,1;APC,stop_gained,p.Y1102*,ENST00000508376,NM_001127510.3&NM_001354898.2&NM_001354904.2,c.3306C>G,HIGH,,,,1;APC,stop_gained,p.Y1102*,ENST00000512211,,c.3306C>G,HIGH,,,,1;APC,stop_gained,p.Y1084*,ENST00000507379,NM_001354897.2&NM_001354902.2&NM_001127511.3,c.3252C>G,HIGH,,,,1;APC,downstream_gene_variant,,ENST00000504915,,,MODIFIER,,,,1;APC,3_prime_UTR_variant,,ENST00000508624,,c.*2628C>G,MODIFIER,,,,1;APC,3_prime_UTR_variant,,ENST00000502371,,c.*1504C>G,MODIFIER,,,,1;AC008575.1,intron_variant,,ENST00000520401,,c.230+9928C>G,MODIFIER,YES,,,1","G","ENSG00000134982","ENST00000257430","Transcript","stop_gained","stop_gained","3365/10704","3306/8532","1102/2843","Y/*","taC/taG","rs879254092;CD005361;CM085240;CM920046",null,1,"APC","HGNC","HGNC:583","protein_coding","YES","CCDS4107.1","ENSP00000257430","P25054.248",null,"UPI000013CF60","P25054-1","NM_001354895.2;NM_001354906.2;NM_001354896.2;NM_000038.6;NM_001354903.2;NM_001354899.2;NM_001354900.2;NM_001354901.2;NM_001354905.2","NM_000038.6","P1",{"$nulls":3},"16/16",null,"Pfam:PF16630;PANTHER:PTHR12607;PANTHER:PTHR12607:SF11",{"$nulls":32},"pathogenic",{"$nulls":8},"HIGH",null,"SNV",5,null,"1;1;1;1",1,"CCATACAGGTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["SEMA6A",57556,"BI","GRCh38","chr5",116477913,116477913,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1582T>C","p.Ser528Pro","p.S528P","ENST00000343348","15/19",164,110,54,177,null,null,"SEMA6A,missense_variant,p.S528P,ENST00000343348,NM_020796.5,c.1582T>C,MODERATE,,deleterious(0),possibly_damaging(0.819),-1;SEMA6A,missense_variant,p.S528P,ENST00000257414,NM_001300780.2,c.1582T>C,MODERATE,YES,deleterious(0),probably_damaging(0.91),-1;SEMA6A,missense_variant,p.S528P,ENST00000510263,,c.1582T>C,MODERATE,,deleterious(0),possibly_damaging(0.819),-1;SEMA6A,missense_variant,p.S98P,ENST00000515129,,c.292T>C,MODERATE,,deleterious(0.05),probably_damaging(0.992),-1;SEMA6A,non_coding_transcript_exon_variant,,ENST00000506114,,n.313T>C,MODIFIER,,,,-1;SEMA6A,downstream_gene_variant,,ENST00000514316,,,MODIFIER,,,,-1;SEMA6A,downstream_gene_variant,,ENST00000503402,,,MODIFIER,,,,-1;SEMA6A-AS1,intron_variant,,ENST00000508640,,n.191-17643A>G,MODIFIER,,,,1;SEMA6A-AS1,intron_variant,,ENST00000510682,,n.195-20548A>G,MODIFIER,,,,1;SEMA6A-AS1,intron_variant,,ENST00000514214,,n.89-20548A>G,MODIFIER,,,,1","G","ENSG00000092421","ENST00000343348","Transcript","missense_variant","missense_variant","2259/6828","1582/3093","528/1030","S/P","Tcc/Ccc","COSV56712232",null,-1,"SEMA6A","HGNC","HGNC:10738","protein_coding",null,"CCDS47256.1","ENSP00000345512","Q9H2E6.161",null,"UPI0000033629",null,"NM_020796.5","NM_020796.5","P4",null,"deleterious(0)","possibly_damaging(0.819)","15/19",null,"PANTHER:PTHR11036;PANTHER:PTHR11036:SF12;Pfam:PF01437;Gene3D:3.30.1680.10;SMART:SM00423;Superfamily:SSF103575",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TCTGGAGGCAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4127285","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC27A6",28965,"BI","GRCh38","chr5",129023704,129023704,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1254del","p.Gly419GlufsTer10","p.G419Efs*10","ENST00000262462","2024-06-10",56,45,11,50,null,null,"SLC27A6,frameshift_variant,p.G419Efs*10,ENST00000262462,NM_001317984.1&NM_001017372.3,c.1254del,HIGH,YES,,,1;SLC27A6,frameshift_variant,p.G419Efs*10,ENST00000395266,NM_014031.4,c.1254del,HIGH,,,,1;SLC27A6,frameshift_variant,p.G419Efs*10,ENST00000506176,,c.1254del,HIGH,,,,1","-","ENSG00000113396","ENST00000262462","Transcript","frameshift_variant","frameshift_variant","1899/2863","1249/1860","417/619","K/X","Aaa/aa",null,null,1,"SLC27A6","HGNC","HGNC:11000","protein_coding","YES","CCDS4145.1","ENSP00000262462","Q9Y2P4.138",null,"UPI0000038E83",null,"NM_001317984.1;NM_001017372.3","NM_001017372.3","P1",{"$nulls":3},"2024-06-10",null,"CDD:cd05938;PANTHER:PTHR43107;PANTHER:PTHR43107:SF10;Pfam:PF00501;Gene3D:3.40.50.12780;Superfamily:SSF56801",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"CATGTGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KDM3B",51780,"BI","GRCh38","chr5",138400001,138400001,"+","Missense_Mutation","SNP","G","G","A","rs758977082",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3188G>A","p.Arg1063Gln","p.R1063Q","ENST00000314358","2024-11-24",118,83,35,130,null,null,"KDM3B,missense_variant,p.R1063Q,ENST00000314358,NM_016604.4,c.3188G>A,MODERATE,YES,tolerated(0.12),benign(0.087),1;KDM3B,missense_variant,p.R61Q,ENST00000542866,,c.182G>A,MODERATE,,tolerated(0.42),benign(0.087),1;KDM3B,3_prime_UTR_variant,,ENST00000510866,,c.*2073G>A,MODIFIER,,,,1;KDM3B,3_prime_UTR_variant,,ENST00000507996,,c.*541G>A,MODIFIER,,,,1;KDM3B,downstream_gene_variant,,ENST00000504095,,,MODIFIER,,,,1","A","ENSG00000120733","ENST00000314358","Transcript","missense_variant","missense_variant","3299/6724","3188/5286","1063/1761","R/Q","cGg/cAg","rs758977082;COSV58691835",null,1,"KDM3B","HGNC","HGNC:1337","protein_coding","YES","CCDS34242.1","ENSP00000326563","Q7LBC6.136",null,"UPI000020C6A8","Q7LBC6-1","NM_016604.4","NM_016604.4","P1",null,"tolerated(0.12)","benign(0.087)","2024-11-24",null,"PANTHER:PTHR12549;PANTHER:PTHR12549:SF8",{"$nulls":8},"3.979e-06",0,0,0,0,0,"8.8e-06",0,0,"8.8e-06","gnomAD_NFE","1.3521400433091912e-05","2.4317900169990025e-05",0,0,0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"AAGCCGGCCAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3850439","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ANKHD1-EIF4EBP3",404734,"BI","GRCh38","chr5",140487055,140487055,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2244del","p.Gly749ValfsTer12","p.G749Vfs*12","ENST00000532219","14/36",52,35,17,41,null,null,"ANKHD1-EIF4EBP3,frameshift_variant,p.G749Vfs*12,ENST00000532219,NM_020690.5,c.2244del,HIGH,YES,,,1;ANKHD1,frameshift_variant,p.G749Vfs*12,ENST00000360839,NM_017747.3,c.2244del,HIGH,YES,,,1;ANKHD1,frameshift_variant,p.G768Vfs*12,ENST00000421134,,c.2301del,HIGH,,,,1;ANKHD1,frameshift_variant,p.A228Lfs*2,ENST00000246149,,c.680del,HIGH,,,,1;ANKHD1,frameshift_variant,p.A155Lfs*2,ENST00000412116,,c.462del,HIGH,,,,1;ANKHD1,5_prime_UTR_variant,,ENST00000297183,,c.-2608del,MODIFIER,,,,1;ANKHD1,non_coding_transcript_exon_variant,,ENST00000506755,,n.493del,MODIFIER,,,,1;ANKHD1,downstream_gene_variant,,ENST00000465435,,,MODIFIER,,,,1","-","ENSG00000254996","ENST00000532219","Transcript","frameshift_variant","frameshift_variant","2300/8246","2240/7854","747/2617","Q/X","cAa/ca",null,null,1,"ANKHD1-EIF4EBP3","HGNC","HGNC:33530","protein_coding","YES","CCDS4224.1","ENSP00000432016",null,null,"UPI0000074448",null,"NM_020690.5",null,"P1",{"$nulls":3},"14/36",null,"PROSITE_profiles:PS50297;PANTHER:PTHR23206;PANTHER:PTHR23206:SF5",{"$nulls":41},"HIGH",null,"deletion",2,4,null,null,"GAGTGCAAAAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["WDR55",54853,"BI","GRCh38","chr5",140669517,140669518,"+","Frame_Shift_Del","DEL","AA","AA","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1021_1022del","p.Lys341GlyfsTer16","p.K341Gfs*16","ENST00000358337","2024-07-07",36,27,8,32,null,null,"WDR55,frameshift_variant,p.K341Gfs*16,ENST00000358337,NM_017706.4,c.1021_1022del,HIGH,YES,,,1;HARS1,downstream_gene_variant,,ENST00000307633,NM_001258042.2,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000415192,NM_001289092.1,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000431330,NM_001289093.1,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000438307,NM_001258040.2,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000457527,NM_001258041.2,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000504156,NM_001289094.1&NM_002109.6,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000507746,,,MODIFIER,YES,,,-1;HARS1,downstream_gene_variant,,ENST00000509087,,,MODIFIER,,,,-1;DND1,downstream_gene_variant,,ENST00000542735,NM_194249.3,,MODIFIER,YES,,,-1;HARS1,downstream_gene_variant,,ENST00000675204,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675366,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675698,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675851,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000676327,,,MODIFIER,,,,-1;WDR55,non_coding_transcript_exon_variant,,ENST00000520764,,n.431_432del,MODIFIER,,,,1;HARS1,downstream_gene_variant,,ENST00000675355,,,MODIFIER,,,,-1;WDR55,frameshift_variant,p.K180Gfs*16,ENST00000504897,,c.538_539del,HIGH,,,,1;WDR55,3_prime_UTR_variant,,ENST00000506393,,c.*775_*776del,MODIFIER,,,,1;WDR55,non_coding_transcript_exon_variant,,ENST00000511232,,n.2569_2570del,MODIFIER,,,,1;HARS1,downstream_gene_variant,,ENST00000504366,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000506579,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000512396,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000643686,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000645491,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000646229,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000674523,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675094,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675763,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675827,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675898,,,MODIFIER,,,,-1;HARS1,downstream_gene_variant,,ENST00000675967,,,MODIFIER,,,,-1","-","ENSG00000120314","ENST00000358337","Transcript","frameshift_variant","frameshift_variant","1252-1253/4080","1015-1016/1152","339/383","K/X","AAa/a",null,null,1,"WDR55","HGNC","HGNC:25971","protein_coding","YES","CCDS4235.1","ENSP00000351100","Q9H6Y2.155",null,"UPI000013F1EC","Q9H6Y2-1","NM_017706.4",null,"P1",{"$nulls":3},"2024-07-07",null,"PANTHER:PTHR44156;PANTHER:PTHR44156:SF5;Gene3D:2.130.10.10;PIRSF:PIRSF038169",{"$nulls":41},"HIGH",1,"deletion",1,6,null,null,"CGGCGCAAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3239089","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PCDHB5",26167,"BI","GRCh38","chr5",141137762,141137762,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2328G>T","p.Gln776His","p.Q776H","ENST00000231134","2024-01-01",226,157,69,183,null,null,"PCDHB5,missense_variant,p.Q776H,ENST00000231134,NM_015669.5,c.2328G>T,MODERATE,YES,tolerated_low_confidence(0.15),benign(0.013),1;PCDHB5,downstream_gene_variant,,ENST00000623915,,,MODIFIER,,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.73-579C>A,MODIFIER,,,,-1;AC244517.2,intron_variant,,ENST00000624802,,n.364+34671C>A,MODIFIER,,,,-1;AC244517.2,intron_variant,,ENST00000625066,,n.59+14550C>A,MODIFIER,,,,-1;AC244517.2,intron_variant,,ENST00000625128,,n.207+34671C>A,MODIFIER,,,,-1","T","ENSG00000113209","ENST00000231134","Transcript","missense_variant","missense_variant","2557/3410","2328/2388","776/795","Q/H","caG/caT","COSV50647154;COSV50647363",null,1,"PCDHB5","HGNC","HGNC:8690","protein_coding","YES","CCDS4247.1","ENSP00000231134","Q9Y5E4.162",null,"UPI0000169DEA",null,"NM_015669.5","NM_015669.5","P1",null,"tolerated_low_confidence(0.15)","benign(0.013)","2024-01-01",null,"PANTHER:PTHR24028:SF90;PANTHER:PTHR24028",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"1;1",null,"CCCCAGGGCGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM420887","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDHGA2",56113,"BI","GRCh38","chr5",141338993,141338993,"+","Missense_Mutation","SNP","C","C","T","rs753861698",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.22C>T","p.Pro8Ser","p.P8S","ENST00000394576","2024-01-04",36,22,14,62,null,null,"PCDHGA2,missense_variant,p.P8S,ENST00000394576,NM_018915.4,c.22C>T,MODERATE,YES,tolerated_low_confidence(0.85),benign(0.005),1;PCDHGA2,missense_variant,p.P8S,ENST00000528330,NM_032009.3,c.22C>T,MODERATE,,tolerated_low_confidence(0.71),benign(0.007),1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+5888C>T,MODIFIER,YES,,,1;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.4,,MODIFIER,YES,,,1;PCDHGA1,downstream_gene_variant,,ENST00000378105,NM_031993.1,,MODIFIER,,,,1;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1,,MODIFIER,,,,1","T","ENSG00000081853","ENST00000394576","Transcript","missense_variant","missense_variant","234/4813","22/2799","8/932","P/S","Cca/Tca","rs753861698;COSV66938679;COSV66940847",null,1,"PCDHGA2","HGNC","HGNC:8700","protein_coding","YES","CCDS47289.1","ENSP00000378077","Q9Y5H1.158",null,"UPI0000072E67","Q9Y5H1-1","NM_018915.4","NM_018915.4","P1",null,"tolerated_low_confidence(0.85)","benign(0.005)","2024-01-04",null,"Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR24028:SF134;PANTHER:PTHR24028",{"$nulls":8},"4.836e-06",0,"4.161e-05",0,0,0,0,0,0,"4.161e-05","gnomAD_AMR",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"AGTTGCCACAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3851648;COSM3851649","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDHGB2",56103,"BI","GRCh38","chr5",141361388,141361388,"+","Missense_Mutation","SNP","A","A","G","rs373182240",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1253A>G","p.Tyr418Cys","p.Y418C","ENST00000522605","2024-01-04",142,85,56,154,null,null,"PCDHGB2,missense_variant,p.Y418C,ENST00000522605,NM_018923.2,c.1253A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;PCDHGB2,missense_variant,p.Y418C,ENST00000622527,NM_032096.1,c.1253A>G,MODERATE,,deleterious(0),probably_damaging(0.999),1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4,c.2424+14931A>G,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4,c.2424+19993A>G,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+28283A>G,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2409+8719A>G,MODIFIER,YES,,,1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4,c.2514+3767A>G,MODIFIER,YES,,,1;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2,,MODIFIER,YES,,,1;PCDHGA5,upstream_gene_variant,,ENST00000611914,NM_032054.1,,MODIFIER,,,,1;PCDHGA4,downstream_gene_variant,,ENST00000612927,NM_032053.3,,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2003+14931A>G,MODIFIER,,,,1","G","ENSG00000253910","ENST00000522605","Transcript","missense_variant","missense_variant","1253/4602","1253/2796","418/931","Y/C","tAc/tGc","rs373182240;COSV53968062",null,1,"PCDHGB2","HGNC","HGNC:8709","protein_coding","YES","CCDS54924.1","ENSP00000429018","Q9Y5G2.152",null,"UPI000006EE67","Q9Y5G2-1","NM_018923.2",null,"P1",null,"deleterious(0)","probably_damaging(0.999)","2024-01-04",null,"Gene3D:2.60.40.60;Pfam:PF00028;Prints:PR00205;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF144;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":19},"6.758859854016919e-06",0,0,0,0,0,0,0,"1.543160033179447e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGAATACAATC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3207016;COSM3207017","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDHGC5",56097,"BI","GRCh38","chr5",141489472,141489472,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.232A>C","p.Ser78Arg","p.S78R","ENST00000252087","2024-01-04",92,66,26,99,null,null,"PCDHGC5,missense_variant,p.S78R,ENST00000252087,NM_018929.3,c.232A>C,MODERATE,YES,tolerated(0.15),benign(0.011),1;PCDHGC5,missense_variant,p.S78R,ENST00000610789,NM_032407.1,c.232A>C,MODERATE,,tolerated(0.18),benign(0.005),1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.3,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGC4,intron_variant,,ENST00000306593,NM_018928.2,c.2442+1857A>C,MODIFIER,YES,,,1;PCDHGC3,intron_variant,,ENST00000308177,NM_002588.4,c.2431-5335A>C,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.3,c.2434-5335A>C,MODIFIER,YES,,,1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.4,c.2416-5335A>C,MODIFIER,YES,,,1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,c.2437-5335A>C,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2422-5335A>C,MODIFIER,YES,,,1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,c.2422-5335A>C,MODIFIER,YES,,,1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.2,c.1879-5335A>C,MODIFIER,,,,1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4,c.2398-5335A>C,MODIFIER,YES,,,1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,c.2419-5335A>C,MODIFIER,YES,,,1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,c.2422-5335A>C,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2410-5335A>C,MODIFIER,YES,,,1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4,c.2515-5335A>C,MODIFIER,YES,,,1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,c.2425-5335A>C,MODIFIER,YES,,,1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5,c.2416-5335A>C,MODIFIER,YES,,,1;PCDHGC3,intron_variant,,ENST00000617222,,c.184-5335A>C,MODIFIER,,,,1;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2,c.2398-5335A>C,MODIFIER,YES,,,1;PCDHGC3,intron_variant,,ENST00000617641,NM_032403.3,c.31-5335A>C,MODIFIER,,,,1;PCDHGC4,intron_variant,,ENST00000618371,,c.12+4287A>C,MODIFIER,,,,1;PCDHGC4,downstream_gene_variant,,ENST00000610539,,,MODIFIER,,,,1;PCDHGC4,downstream_gene_variant,,ENST00000617094,NM_032406.1,,MODIFIER,,,,1;PCDHGC3,intron_variant,,ENST00000622656,,n.297-5335A>C,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2004-5335A>C,MODIFIER,,,,1","C","ENSG00000240764","ENST00000252087","Transcript","missense_variant","missense_variant","392/4797","232/2835","78/944","S/R","Agc/Cgc","COSV52755197",null,1,"PCDHGC5","HGNC","HGNC:8718","protein_coding","YES","CCDS4263.1","ENSP00000252087","Q9Y5F6.156",null,"UPI000006D689","Q9Y5F6-1","NM_018929.3","NM_018929.3","P1",null,"tolerated(0.15)","benign(0.011)","2024-01-04",null,"Gene3D:2.60.40.60;Pfam:PF08266;Prints:PR00205;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF258;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCCTGAGCTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3852115;COSM3852116","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HTR4",3360,"BI","GRCh38","chr5",148451265,148451265,"+","Missense_Mutation","SNP","C","C","T","rs201201172",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1084G>A","p.Val362Ile","p.V362I","ENST00000521530","2024-06-06",157,109,48,155,null,null,"HTR4,missense_variant,p.V362I,ENST00000521530,NM_001040169.2,c.1084G>A,MODERATE,,tolerated_low_confidence(0.18),benign(0.009),-1;HTR4,3_prime_UTR_variant,,ENST00000521735,NM_199453.3,c.*23G>A,MODIFIER,,,,-1;HTR4,3_prime_UTR_variant,,ENST00000522588,,c.*94G>A,MODIFIER,,,,-1","T","ENSG00000164270","ENST00000521530","Transcript","missense_variant","missense_variant","1090/1323","1084/1164","362/387","V/I","Gtt/Att","rs201201172",null,-1,"HTR4","HGNC","HGNC:5299","protein_coding",null,"CCDS34270.1","ENSP00000428320","Q13639.187",null,"UPI000002A2CC","Q13639-2","NM_001040169.2",null,"P4",null,"tolerated_low_confidence(0.18)","benign(0.009)","2024-06-06",null,"PANTHER:PTHR24247;PANTHER:PTHR24247:SF179",{"$nulls":6},0.000227,0,"2.392e-05","6.153e-05","5.783e-05",0,0,0,"2.652e-05",0,0,0.000227,"AA","1.3525799658964388e-05","2.4338000002899207e-05",0,0,0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":11},"MODERATE",1,"SNV",1,{"$nulls":3},"CAGAACGGTGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM205810","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDX1",1044,"BI","GRCh38","chr5",150166922,150166922,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.46G>A","p.Gly16Ser","p.G16S","ENST00000231656","2024-01-03",14,10,4,28,null,null,"CDX1,missense_variant,p.G16S,ENST00000231656,NM_001804.3,c.46G>A,MODERATE,YES,tolerated(0.33),benign(0.057),1;CDX1,intron_variant,,ENST00000616154,,c.23+10G>A,MODIFIER,,,,1","A","ENSG00000113722","ENST00000231656","Transcript","missense_variant","missense_variant","145/1775","46/798","16/265","G/S","Ggc/Agc","COSV51568604",null,1,"CDX1","HGNC","HGNC:1805","protein_coding","YES","CCDS4304.1","ENSP00000231656","P47902.176",null,"UPI000013C953","P47902-1","NM_001804.3","NM_001804.3","P1",null,"tolerated(0.33)","benign(0.057)","2024-01-03",null,"MobiDB_lite:mobidb-lite;Pfam:PF04731;PANTHER:PTHR24332:SF16;PANTHER:PTHR24332",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACCCCGGCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3852745","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CCDC69",26112,"BI","GRCh38","chr5",151187394,151187394,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.385A>G","p.Thr129Ala","p.T129A","ENST00000355417","2024-05-09",61,43,18,54,null,null,"CCDC69,missense_variant,p.T129A,ENST00000355417,NM_015621.3,c.385A>G,MODERATE,YES,tolerated(1),benign(0),-1;CCDC69,non_coding_transcript_exon_variant,,ENST00000521308,,n.432A>G,MODIFIER,,,,-1;CCDC69,missense_variant,p.T114A,ENST00000518189,,c.340A>G,MODERATE,,tolerated(1),benign(0),-1;CCDC69,synonymous_variant,p.L83=,ENST00000522964,,c.249A>G,LOW,,,,-1;CCDC69,upstream_gene_variant,,ENST00000519448,,,MODIFIER,,,,-1","C","ENSG00000198624","ENST00000355417","Transcript","missense_variant","missense_variant","507/3398","385/891","129/296","T/A","Acc/Gcc","COSV62599942",null,-1,"CCDC69","HGNC","HGNC:24487","protein_coding","YES","CCDS4312.1","ENSP00000347586","A6NI79.97",null,"UPI000020CFF2",null,"NM_015621.3","NM_015621.3","P1",null,"tolerated(1)","benign(0)","2024-05-09",null,"PANTHER:PTHR24200:SF6;PANTHER:PTHR24200",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGGGTAGAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3852862","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CYFIP2",26999,"BI","GRCh38","chr5",157389375,157389375,"+","Missense_Mutation","SNP","G","G","A","rs369611074",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3469G>A","p.Ala1157Thr","p.A1157T","ENST00000616178","30/32",52,40,11,40,null,null,"CYFIP2,missense_variant,p.A1132T,ENST00000620254,NM_001037333.3,c.3394G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;CYFIP2,missense_variant,p.A1106T,ENST00000521420,NM_001291721.2,c.3316G>A,MODERATE,,deleterious(0),probably_damaging(0.993),1;CYFIP2,missense_variant,p.A1132T,ENST00000618329,NM_014376.4,c.3394G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;CYFIP2,missense_variant,p.A1157T,ENST00000616178,NM_001291722.2,c.3469G>A,MODERATE,YES,deleterious(0),probably_damaging(0.953),1;CYFIP2,missense_variant,p.A996T,ENST00000435847,,c.2986G>A,MODERATE,,deleterious(0),probably_damaging(0.982),1;CYFIP2,missense_variant,p.A936T,ENST00000522463,,c.2806G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;AC008676.3,intron_variant,,ENST00000519499,,c.-2232-12869C>T,MODIFIER,YES,,,-1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000523383,,n.315G>A,MODIFIER,,,,1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000519663,,n.291G>A,MODIFIER,,,,1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522775,,n.412G>A,MODIFIER,,,,1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000522884,,n.412G>A,MODIFIER,,,,1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000524058,,n.309G>A,MODIFIER,,,,1;AC008676.1,upstream_gene_variant,,ENST00000508443,,,MODIFIER,YES,,,-1;AC008676.1,upstream_gene_variant,,ENST00000520658,,,MODIFIER,,,,-1","A","ENSG00000055163","ENST00000616178","Transcript","missense_variant","missense_variant","3609/4210","3469/3837","1157/1278","A/T","Gcc/Acc","rs369611074",null,1,"CYFIP2","HGNC","HGNC:13760","protein_coding","YES","CCDS78077.1","ENSP00000479719","Q96F07.148",null,"UPI0000DC89D8","Q96F07-1","NM_001291722.2",{"$nulls":3},"deleterious(0)","probably_damaging(0.953)","30/32",null,"PANTHER:PTHR12195:SF3;PANTHER:PTHR12195;Pfam:PF05994;PIRSF:PIRSF008153;Prints:PR01698",{"$nulls":6},0,0.0001168,"4.037e-06",0,0,0,0,0,"8.912e-06",0,0,0.0001168,"EA","1.3514099919120781e-05",0,0,"6.621640204684809e-05",0,0,0,0,"1.5427300240844488e-05",0,0,{"$nulls":11},"MODERATE",1,"SNV",1,null,null,1,"GGAGCGCCATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3853179","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["THG1L",54974,"BI","GRCh38","chr5",157739432,157739432,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.850del","p.Asp284MetfsTer11","p.D284Mfs*11","ENST00000231198","2024-06-06",136,95,41,138,null,null,"THG1L,frameshift_variant,p.D284Mfs*11,ENST00000231198,NM_017872.5&NM_001317825.2&NM_001317824.2&NM_001317826.2,c.850del,HIGH,YES,,,1;LSM11,upstream_gene_variant,,ENST00000286307,NM_173491.4,,MODIFIER,YES,,,1;THG1L,3_prime_UTR_variant,,ENST00000521655,,c.*380del,MODIFIER,,,,1;THG1L,3_prime_UTR_variant,,ENST00000523575,,c.*210del,MODIFIER,,,,1","-","ENSG00000113272","ENST00000231198","Transcript","frameshift_variant","frameshift_variant","868/2885","847/897","283/298","G/X","Ggg/gg",null,null,1,"THG1L","HGNC","HGNC:26053","protein_coding","YES","CCDS4341.1","ENSP00000231198","Q9NWX6.151",null,"UPI0000073782",null,"NM_017872.5;NM_001317825.2;NM_001317824.2;NM_001317826.2","NM_017872.5","P1",{"$nulls":3},"2024-06-06",null,"PDB-ENSP_mappings:3otb.A;PDB-ENSP_mappings:3otb.B;PDB-ENSP_mappings:3otc.A;PDB-ENSP_mappings:3otc.B;PDB-ENSP_mappings:3otd.A;PDB-ENSP_mappings:3otd.B;PDB-ENSP_mappings:3ote.A;PDB-ENSP_mappings:3ote.B;PANTHER:PTHR12729;PANTHER:PTHR12729:SF6;PIRSF:PIRSF028980;Gene3D:3.30.70.3000",{"$nulls":41},"HIGH",1,"deletion",1,3,null,1,"ATCATCGGGGAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TLX3",30012,"BI","GRCh38","chr5",171309459,171309459,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.94G>A","p.Ala32Thr","p.A32T","ENST00000296921","2024-01-03",14,8,6,17,null,null,"TLX3,missense_variant,p.A32T,ENST00000296921,NM_021025.4,c.94G>A,MODERATE,YES,tolerated(0.48),benign(0.007),1;AC091980.2,intron_variant,,ENST00000619056,,n.244+75C>T,MODIFIER,YES,,,-1","A","ENSG00000164438","ENST00000296921","Transcript","missense_variant","missense_variant","212/1534","94/876","32/291","A/T","Gca/Aca","COSV51540640",null,1,"TLX3","HGNC","HGNC:13532","protein_coding","YES","CCDS34288.1","ENSP00000296921","O43711.168",null,"UPI000013E3AA",null,"NM_021025.4","NM_021025.4","P1",null,"tolerated(0.48)","benign(0.007)","2024-01-03",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR45921:SF1;PANTHER:PTHR45921",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACAGCGCACCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3853685","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HRH2",3274,"BI","GRCh38","chr5",175684275,175684275,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1042A>G","p.Thr348Ala","p.T348A","ENST00000231683","2024-01-01",224,208,14,232,null,null,"HRH2,missense_variant,p.T348A,ENST00000636584,NM_001367711.1,c.1042A>G,MODERATE,YES,tolerated(0.15),benign(0.003),1;HRH2,missense_variant,p.T348A,ENST00000377291,NM_001131055.2,c.1042A>G,MODERATE,,tolerated(0.29),benign(0),1;HRH2,missense_variant,p.T348A,ENST00000231683,,c.1042A>G,MODERATE,,tolerated(0.23),benign(0.006),1;HRH2,missense_variant,p.T348A,ENST00000624694,,c.1042A>G,MODERATE,,tolerated(0.22),benign(0.005),1","G","ENSG00000113749","ENST00000231683","Transcript","missense_variant","missense_variant","1042/1080","1042/1080","348/359","T/A","Aca/Gca","COSV51574779",null,1,"HRH2","HGNC","HGNC:5183","protein_coding",null,null,"ENSP00000231683","P25021.176",null,"UPI00000007CC","P25021-1",null,null,"P4",null,"tolerated(0.23)","benign(0.006)","2024-01-01",null,"Prints:PR00531;PANTHER:PTHR24247;PANTHER:PTHR24247:SF226",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"GTGGGACAGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3853813;COSM3853814","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SNCB",6620,"BI","GRCh38","chr5",176626504,176626505,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.175dup","p.Thr59AsnfsTer34","p.T59Nfs*34","ENST00000310112","2024-05-07",29,21,8,58,null,null,"SNCB,frameshift_variant,p.T45Nfs*34,ENST00000614675,NM_001318036.2&NM_001318034.1,c.133dup,HIGH,,,,-1;SNCB,frameshift_variant,p.T59Nfs*34,ENST00000393693,NM_001318037.2&NM_003085.5&NM_001363140.2,c.175dup,HIGH,YES,,,-1;SNCB,frameshift_variant,p.T59Nfs*34,ENST00000310112,NM_001318035.2&NM_001001502.3,c.175dup,HIGH,,,,-1;SNCB,frameshift_variant,p.T59Nfs*34,ENST00000510387,,c.175dup,HIGH,,,,-1;SNCB,frameshift_variant,p.T59Nfs*34,ENST00000506696,,c.175dup,HIGH,,,,-1;EIF4E1B,upstream_gene_variant,,ENST00000318682,NM_001375362.1&NM_001099408.2,,MODIFIER,,,,1;EIF4E1B,upstream_gene_variant,,ENST00000510660,,,MODIFIER,,,,1;EIF4E1B,upstream_gene_variant,,ENST00000647833,,,MODIFIER,YES,,,1;MIR4281,downstream_gene_variant,,ENST00000580852,,,MODIFIER,YES,,,-1;EIF4E1B,upstream_gene_variant,,ENST00000510473,,,MODIFIER,,,,1;SNCB,non_coding_transcript_exon_variant,,ENST00000508006,,n.772dup,MODIFIER,,,,-1;EIF4E1B,upstream_gene_variant,,ENST00000515458,,,MODIFIER,,,,1","T","ENSG00000074317","ENST00000310112","Transcript","frameshift_variant","frameshift_variant","426-427/1383","175-176/405","59/134","T/NX","acc/aAcc",null,null,-1,"SNCB","HGNC","HGNC:11140","protein_coding",null,"CCDS4406.1","ENSP00000308057","Q16143.177",null,"UPI000003173C",null,"NM_001318035.2;NM_001001502.3",null,"P1",{"$nulls":3},"2024-05-07",null,"PANTHER:PTHR13820:SF4;PANTHER:PTHR13820;Pfam:PF01387;Gene3D:1.10.287.700;Superfamily:SSF118375;Prints:PR01211",{"$nulls":41},"HIGH",null,"insertion",1,null,null,1,"CCTTGGTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PDLIM7",9260,"BI","GRCh38","chr5",177490891,177490891,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.551A>C","p.Glu184Ala","p.E184A","ENST00000355841","2024-07-13",80,62,18,87,null,null,"PDLIM7,missense_variant,p.E184A,ENST00000355841,NM_005451.5,c.551A>C,MODERATE,YES,tolerated(0.42),benign(0.001),-1;PDLIM7,missense_variant,p.E150A,ENST00000359895,NM_203352.3,c.449A>C,MODERATE,,tolerated(0.53),benign(0.001),-1;PDLIM7,missense_variant,p.E184A,ENST00000393551,,c.551A>C,MODERATE,,tolerated(0.13),benign(0.031),-1;PDLIM7,missense_variant,p.E184A,ENST00000355572,NM_213636.2,c.551A>C,MODERATE,,tolerated(0.29),benign(0.01),-1;PDLIM7,missense_variant,p.E184A,ENST00000505074,,c.551A>C,MODERATE,,tolerated(0.21),possibly_damaging(0.628),-1;PDLIM7,downstream_gene_variant,,ENST00000393546,,,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000506161,,,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000506537,,,MODIFIER,,,,-1;PDLIM7,missense_variant,p.E184A,ENST00000486828,,c.551A>C,MODERATE,,tolerated(0.34),benign(0.001),-1;PDLIM7,3_prime_UTR_variant,,ENST00000493815,,c.*106A>C,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000463411,,,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000503346,,,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000503827,,,MODIFIER,,,,-1;PDLIM7,downstream_gene_variant,,ENST00000504318,,,MODIFIER,,,,-1;AC145098.1,upstream_gene_variant,,ENST00000506025,,,MODIFIER,YES,,,1","G","ENSG00000196923","ENST00000355841","Transcript","missense_variant","missense_variant","639/1712","551/1374","184/457","E/A","gAg/gCg","COSV62883410",null,-1,"PDLIM7","HGNC","HGNC:22958","protein_coding","YES","CCDS4422.1","ENSP00000348099","Q9NR12.174",null,"UPI0000073DEF","Q9NR12-1","NM_005451.5","NM_005451.5","P1",null,"tolerated(0.42)","benign(0.001)","2024-07-13",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR24214;PANTHER:PTHR24214:SF0",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCTCCTCATCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3854035;COSM3854036","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["WRNIP1",56897,"BI","GRCh38","chr6",2785118,2785118,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1839del","p.Val614CysfsTer5","p.V614Cfs*5","ENST00000380773","2024-07-07",89,67,22,128,null,null,"WRNIP1,frameshift_variant,p.V614Cfs*5,ENST00000380773,NM_020135.3,c.1839del,HIGH,YES,,,1;WRNIP1,frameshift_variant,p.V394Cfs*5,ENST00000380769,,c.1179del,HIGH,,,,1;WRNIP1,frameshift_variant,p.V614Cfs*5,ENST00000618555,,c.1839del,HIGH,,,,1;WRNIP1,frameshift_variant,p.V589Cfs*5,ENST00000380771,NM_130395.3,c.1764del,HIGH,,,,1;WRNIP1,frameshift_variant,p.V230Cfs*5,ENST00000380764,,c.687del,HIGH,,,,1","-","ENSG00000124535","ENST00000380773","Transcript","frameshift_variant","frameshift_variant","2064/3898","1834/1998","612/665","P/X","Ccc/cc",null,null,1,"WRNIP1","HGNC","HGNC:20876","protein_coding","YES","CCDS4475.1","ENSP00000370150","Q96S55.160",null,"UPI000004A506","Q96S55-1","NM_020135.3","NM_020135.3","P3",{"$nulls":3},"2024-07-07",null,"Gene3D:1.10.3710.10;Pfam:PF12002;PANTHER:PTHR13779;Superfamily:SSF48019",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"CCACTGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["JARID2",3720,"BI","GRCh38","chr6",15496491,15496491,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1272del","p.Arg425GlyfsTer36","p.R425Gfs*36","ENST00000341776","2024-07-18",90,64,26,83,null,null,"JARID2,frameshift_variant,p.R425Gfs*36,ENST00000341776,NM_004973.4,c.1272del,HIGH,YES,,,1;JARID2,frameshift_variant,p.R253Gfs*36,ENST00000397311,NM_001267040.1,c.756del,HIGH,,,,1;JARID2,upstream_gene_variant,,ENST00000474854,,,MODIFIER,,,,1","-","ENSG00000008083","ENST00000341776","Transcript","frameshift_variant","frameshift_variant","1737/6003","1266/3741","422/1246","V/X","gtG/gt",null,null,1,"JARID2","HGNC","HGNC:6196","protein_coding","YES","CCDS4533.1","ENSP00000341280","Q92833.174",null,"UPI0000161C67","Q92833-1","NM_004973.4","NM_004973.4","P4",{"$nulls":3},"2024-07-18",null,"PDB-ENSP_mappings:6c23.B;PDB-ENSP_mappings:6c23.E;PDB-ENSP_mappings:6c24.B;PDB-ENSP_mappings:6c24.E;PANTHER:PTHR10694;PANTHER:PTHR10694:SF44;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",1,6,null,null,"GGAGGTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1239175;COSM4338124","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KIF13A",63971,"BI","GRCh38","chr6",17837569,17837569,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.845del","p.Leu282TrpfsTer44","p.L282Wfs*44","ENST00000259711","10/39",24,14,10,18,null,null,"KIF13A,frameshift_variant,p.L282Wfs*44,ENST00000378814,NM_001105568.3,c.845del,HIGH,,,,-1;KIF13A,frameshift_variant,p.L282Wfs*44,ENST00000259711,NM_022113.6,c.845del,HIGH,,,,-1;KIF13A,frameshift_variant,p.L282Wfs*44,ENST00000378826,NM_001105566.3,c.845del,HIGH,,,,-1;KIF13A,frameshift_variant,p.L282Wfs*44,ENST00000378843,NM_001105567.3,c.845del,HIGH,,,,-1;KIF13A,frameshift_variant,p.L282Wfs*44,ENST00000636847,,c.845del,HIGH,YES,,,-1","-","ENSG00000137177","ENST00000259711","Transcript","frameshift_variant","frameshift_variant","1017/6007","845/5418","282/1805","L/X","tTg/tg",null,null,-1,"KIF13A","HGNC","HGNC:14566","protein_coding",null,"CCDS47381.1","ENSP00000259711","Q9H1H9.162",null,"UPI0000E20DA3","Q9H1H9-1","NM_022113.6","NM_022113.6","P4",{"$nulls":3},"10/39",null,"Gene3D:3.40.850.10;Pfam:PF00225;PROSITE_profiles:PS50067;PANTHER:PTHR24115;PANTHER:PTHR24115:SF458;SMART:SM00129;Superfamily:SSF52540;CDD:cd01365",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"AACCCCAAGGTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PGBD1",84547,"BI","GRCh38","chr6",28301932,28301932,"+","Missense_Mutation","SNP","G","G","A","rs1181275574",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2078G>A","p.Gly693Asp","p.G693D","ENST00000259883","2024-07-07",214,138,76,197,null,null,"PGBD1,missense_variant,p.G693D,ENST00000259883,NM_001184743.1&NM_032507.3,c.2078G>A,MODERATE,YES,tolerated(0.24),benign(0.005),1","A","ENSG00000137338","ENST00000259883","Transcript","missense_variant","missense_variant","2483/3100","2078/2430","693/809","G/D","gGc/gAc","rs1181275574;COSV52554026",null,1,"PGBD1","HGNC","HGNC:19398","protein_coding","YES","CCDS4648.1","ENSP00000259883","Q96JS3.134",null,"UPI000006ED63",null,"NM_001184743.1;NM_032507.3",null,"P1",null,"tolerated(0.24)","benign(0.005)","2024-07-07",null,"Pfam:PF13843;PANTHER:PTHR47055;PANTHER:PTHR47055:SF1",{"$nulls":8},"3.979e-06",0,0,0,0,0,"8.802e-06",0,0,"8.802e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GGATGGCATTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3861168","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PGBD1",84547,"BI","GRCh38","chr6",28302135,28302136,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2285dup","p.Leu762PhefsTer7","p.L762Ffs*7","ENST00000259883","2024-07-07",72,52,20,67,null,null,"PGBD1,frameshift_variant,p.L762Ffs*7,ENST00000259883,NM_001184743.1&NM_032507.3,c.2285dup,HIGH,YES,,,1","T","ENSG00000137338","ENST00000259883","Transcript","frameshift_variant","frameshift_variant","2686-2687/3100","2281-2282/2430","761/809","I/IX","att/aTtt",null,null,1,"PGBD1","HGNC","HGNC:19398","protein_coding","YES","CCDS4648.1","ENSP00000259883","Q96JS3.134",null,"UPI000006ED63",null,"NM_001184743.1;NM_032507.3",null,"P1",{"$nulls":3},"2024-07-07",null,"Pfam:PF13843;PANTHER:PTHR47055;PANTHER:PTHR47055:SF1",{"$nulls":41},"HIGH",1,"insertion",1,4,null,null,"ACTCAATTTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZNF311",282890,"BI","GRCh38","chr6",28996128,28996128,"+","Missense_Mutation","SNP","T","T","C","rs1335931553",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.874A>G","p.Met292Val","p.M292V","ENST00000377179","2024-07-07",82,58,24,96,null,null,"ZNF311,missense_variant,p.M292V,ENST00000377179,NM_001010877.5&NM_001350637.4&NM_001382360.1,c.874A>G,MODERATE,YES,tolerated(0.4),benign(0),-1;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,,n.1684A>G,MODIFIER,,,,-1","C","ENSG00000197935","ENST00000377179","Transcript","missense_variant","missense_variant","1442/2782","874/2001","292/666","M/V","Atg/Gtg","rs1335931553;COSV65853167",null,-1,"ZNF311","HGNC","HGNC:13847","protein_coding","YES","CCDS34357.1","ENSP00000366384","Q5JNZ3.137","A0A1U9X8W3.15","UPI000020D71E",null,"NM_001010877.5;NM_001350637.4;NM_001382360.1","NM_001382360.1","P1",null,"tolerated(0.4)","benign(0)","2024-07-07",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24377;PANTHER:PTHR24377:SF273;SMART:SM00355;Superfamily:SSF57667;Superfamily:SSF57667",{"$nulls":8},"4.049e-06",0,0,0,"5.467e-05",0,0,0,0,"5.467e-05","gnomAD_EAS","2.0294699424994178e-05","2.4339200535905547e-05",0,0,0,0,0,0,"3.0871800845488906e-05",0,0,"3.0871800845488906e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"GTGCATAGAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3861216","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRR3",80742,"BI","GRCh38","chr6",30562108,30562108,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.448del","p.Gln150ArgfsTer55","p.Q150Rfs*55","ENST00000376560","2024-03-04",161,118,43,143,null,null,"PRR3,frameshift_variant,p.Q150Rfs*55,ENST00000376560,NM_025263.4,c.448del,HIGH,YES,,,1;PRR3,frameshift_variant,p.Q129Rfs*55,ENST00000376557,NM_001077497.3,c.385del,HIGH,,,,1;GNL1,upstream_gene_variant,,ENST00000376621,NM_005275.3,,MODIFIER,YES,,,-1;PRR3,non_coding_transcript_exon_variant,,ENST00000498336,,n.658del,MODIFIER,,,,1;PRR3,non_coding_transcript_exon_variant,,ENST00000481741,,n.597del,MODIFIER,,,,1;PRR3,non_coding_transcript_exon_variant,,ENST00000470703,,n.2082del,MODIFIER,,,,1;PRR3,downstream_gene_variant,,ENST00000491173,,,MODIFIER,,,,1","-","ENSG00000204576","ENST00000376560","Transcript","frameshift_variant","frameshift_variant","494/1845","444/567","148/188","D/X","gaC/ga",null,null,1,"PRR3","HGNC","HGNC:21149","protein_coding","YES","CCDS43440.1","ENSP00000365744","P79522.150","Q96QB9.154","UPI000000D739","P79522-1","NM_025263.4","NM_025263.4","P1",{"$nulls":3},"2024-03-04",null,"PANTHER:PTHR47398;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"GGATGACCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["HLA-B",3106,"BI","GRCh38","chr6",31355415,31355415,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.797A>G","p.Gln266Arg","p.Q266R","ENST00000412585","2024-04-08",93,63,30,131,null,null,"HLA-B,missense_variant,p.Q266R,ENST00000412585,NM_005514.8,c.797A>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(1),-1;HLA-B,missense_variant,p.Q266R,ENST00000639848,,c.797A>G,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.997),-1;HLA-B,downstream_gene_variant,,ENST00000434333,,,MODIFIER,,,,-1;HLA-B,upstream_gene_variant,,ENST00000640094,,,MODIFIER,,,,-1;MIR6891,upstream_gene_variant,,ENST00000618788,,,MODIFIER,YES,,,-1;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,,n.1063A>G,MODIFIER,,,,-1;HLA-B,non_coding_transcript_exon_variant,,ENST00000463574,,n.388A>G,MODIFIER,,,,-1;HLA-B,downstream_gene_variant,,ENST00000474381,,,MODIFIER,,,,-1;HLA-B,upstream_gene_variant,,ENST00000481849,,,MODIFIER,,,,-1;HLA-B,upstream_gene_variant,,ENST00000497377,,,MODIFIER,,,,-1;AL671883.2,upstream_gene_variant,,ENST00000603274,,,MODIFIER,YES,,,1","C","ENSG00000234745","ENST00000412585","Transcript","missense_variant","missense_variant","818/1536","797/1089","266/362","Q/R","cAg/cGg","COSV69521648",null,-1,"HLA-B","HGNC","HGNC:4932","protein_coding",null,"CCDS34394.1","ENSP00000399168","P01889.204","E5FQ95.86","UPI0000000B17",null,"NM_005514.8","NM_005514.8","P1",null,"deleterious_low_confidence(0)","probably_damaging(1)","2024-04-08",null,"PDB-ENSP_mappings:1a1m.A;PDB-ENSP_mappings:1a1n.A;PDB-ENSP_mappings:1a1o.A;PDB-ENSP_mappings:1a9b.A;PDB-ENSP_mappings:1a9b.D;PDB-ENSP_mappings:1a9e.A;PDB-ENSP_mappings:1agb.A;PDB-ENSP_mappings:1agc.A;PDB-ENSP_mappings:1agd.A;PDB-ENSP_mappings:1age.A;PDB-ENSP_mappings:1agf.A;PDB-ENSP_mappings:1cg9.A;PDB-ENSP_mappings:1e27.A;PDB-ENSP_mappings:1e28.A;PDB-ENSP_mappings:1hsa.A;PDB-ENSP_mappings:1hsa.D;PDB-ENSP_mappings:1jgd.A;PDB-ENSP_mappings:1jge.A;PDB-ENSP_mappings:1k5n.A;PDB-ENSP_mappings:1m05.A;PDB-ENSP_mappings:1m05.C;PDB-ENSP_mappings:1m6o.A;PDB-ENSP_mappings:1mi5.A;PDB-ENSP_mappings:1n2r.A;PDB-ENSP_mappings:1of2.A;PDB-ENSP_mappings:1ogt.A;PDB-ENSP_mappings:1sys.A;PDB-ENSP_mappings:1syv.A;PDB-ENSP_mappings:1uxs.A;PDB-ENSP_mappings:1uxw.A;PDB-ENSP_mappings:1w0v.A;PDB-ENSP_mappings:1w0w.A;PDB-ENSP_mappings:1xh3.A;PDB-ENSP_mappings:1xr8.A;PDB-ENSP_mappings:1xr9.A;PDB-ENSP_mappings:1zhk.A;PDB-ENSP_mappings:1zhl.A;PDB-ENSP_mappings:1zsd.A;Gene3D:2.60.40.10;PDB-ENSP_mappings:2a83.A;PDB-ENSP_mappings:2ak4.A;PDB-ENSP_mappings:2ak4.F;PDB-ENSP_mappings:2ak4.K;PDB-ENSP_mappings:2ak4.Q;PDB-ENSP_mappings:2axf.A;PDB-ENSP_mappings:2axg.A;PDB-ENSP_mappings:2bsr.A;PDB-ENSP_mappings:2bss.A;PDB-ENSP_mappings:2bst.A;PDB-ENSP_mappings:2bvo.A;PDB-ENSP_mappings:2bvp.A;PDB-ENSP_mappings:2bvq.A;PDB-ENSP_mappings:2h6p.A;PDB-ENSP_mappings:2hjl.A;PDB-ENSP_mappings:2nw3.A;PDB-ENSP_mappings:2nx5.A;PDB-ENSP_mappings:2nx5.F;PDB-ENSP_mappings:2nx5.K;PDB-ENSP_mappings:2nx5.Q;PDB-ENSP_mappings:2rfx.A;PDB-ENSP_mappings:2ypk.A;PDB-ENSP_mappings:2ypl.A;PDB-ENSP_mappings:3b3i.A;PDB-ENSP_mappings:3b6s.A;PDB-ENSP_mappings:3bp4.A;PDB-ENSP_mappings:3bp7.A;PDB-ENSP_mappings:3bw9.A;PDB-ENSP_mappings:3bwa.A;PDB-ENSP_mappings:3c9n.A;PDB-ENSP_mappings:3czf.A;PDB-ENSP_mappings:3d18.A;PDB-ENSP_mappings:3dtx.A;PDB-ENSP_mappings:3dx6.A;PDB-ENSP_mappings:3dx7.A;PDB-ENSP_mappings:3dx8.A;PDB-ENSP_mappings:3dxa.A;PDB-ENSP_mappings:3dxa.F;PDB-ENSP_mappings:3dxa.K;PDB-ENSP_mappings:3ffc.A;PDB-ENSP_mappings:3ffc.F;PDB-ENSP_mappings:3hcv.A;PDB-ENSP_mappings:3kpl.A;PDB-ENSP_mappings:3kpm.A;PDB-ENSP_mappings:3kpn.A;PDB-ENSP_mappings:3kpo.A;PDB-ENSP_mappings:3kpp.A;PDB-ENSP_mappings:3kpq.A;PDB-ENSP_mappings:3kpr.A;PDB-ENSP_mappings:3kpr.F;PDB-ENSP_mappings:3kps.A;PDB-ENSP_mappings:3kww.A;PDB-ENSP_mappings:3kxf.A;PDB-ENSP_mappings:3kxf.C;PDB-ENSP_mappings:3kxf.I;PDB-ENSP_mappings:3kxf.K;PDB-ENSP_mappings:3l3d.A;PDB-ENSP_mappings:3l3g.A;PDB-ENSP_mappings:3l3i.A;PDB-ENSP_mappings:3l3j.A;PDB-ENSP_mappings:3l3k.A;PDB-ENSP_mappings:3lkn.A;PDB-ENSP_mappings:3lko.A;PDB-ENSP_mappings:3lkp.A;PDB-ENSP_mappings:3lkq.A;PDB-ENSP_mappings:3lkr.A;PDB-ENSP_mappings:3lks.A;PDB-ENSP_mappings:3ln4.A;PDB-ENSP_mappings:3ln5.A;PDB-ENSP_mappings:3lv3.A;PDB-ENSP_mappings:3mv7.A;PDB-ENSP_mappings:3mv8.A;PDB-ENSP_mappings:3mv9.A;PDB-ENSP_mappings:3sjv.A;PDB-ENSP_mappings:3sjv.F;PDB-ENSP_mappings:3sjv.K;PDB-ENSP_mappings:3sjv.P;PDB-ENSP_mappings:3skm.A;PDB-ENSP_mappings:3sko.A;PDB-ENSP_mappings:3spv.A;PDB-ENSP_mappings:3upr.A;PDB-ENSP_mappings:3upr.C;PDB-ENSP_mappings:3vcl.A;PDB-ENSP_mappings:3vfs.A;PDB-ENSP_mappings:3vft.A;PDB-ENSP_mappings:3vfu.A;PDB-ENSP_mappings:3vfv.A;PDB-ENSP_mappings:3vfw.A;PDB-ENSP_mappings:3vh8.A;PDB-ENSP_mappings:3vh8.D;PDB-ENSP_mappings:3vri.A;PDB-ENSP_mappings:3vrj.A;PDB-ENSP_mappings:3w39.A;PDB-ENSP_mappings:3w39.D;PDB-ENSP_mappings:3wuw.A;PDB-ENSP_mappings:3x11.A;PDB-ENSP_mappings:3x12.A;PDB-ENSP_mappings:3x13.A;PDB-ENSP_mappings:3x14.A;PDB-ENSP_mappings:4g8g.A;PDB-ENSP_mappings:4g8i.A;PDB-ENSP_mappings:4g9d.A;PDB-ENSP_mappings:4g9f.A;PDB-ENSP_mappings:4jqv.A;PDB-ENSP_mappings:4jqx.A;PDB-ENSP_mappings:4lcy.A;PDB-ENSP_mappings:4lcy.F;PDB-ENSP_mappings:4lnr.A;PDB-ENSP_mappings:4mji.A;PDB-ENSP_mappings:4mji.F;PDB-ENSP_mappings:4o2c.A;PDB-ENSP_mappings:4o2e.A;PDB-ENSP_mappings:4o2e.D;PDB-ENSP_mappings:4o2f.A;PDB-ENSP_mappings:4o2f.D;PDB-ENSP_mappings:4pr5.A;PDB-ENSP_mappings:4prn.A;PDB-ENSP_mappings:4qrp.A;PDB-ENSP_mappings:4qrp.F;PDB-ENSP_mappings:4qrq.A;PDB-ENSP_mappings:4qrr.A;PDB-ENSP_mappings:4qrs.A;PDB-ENSP_mappings:4qrt.A;PDB-ENSP_mappings:4qru.A;PDB-ENSP_mappings:4u1h.A;PDB-ENSP_mappings:4u1i.A;PDB-ENSP_mappings:4u1j.A;PDB-ENSP_mappings:4u1k.A;PDB-ENSP_mappings:4u1k.D;PDB-ENSP_mappings:4u1l.A;PDB-ENSP_mappings:4u1l.D;PDB-ENSP_mappings:4u1m.A;PDB-ENSP_mappings:4u1n.A;PDB-ENSP_mappings:4u1s.A;PDB-ENSP_mappings:4xxc.A;PDB-ENSP_mappings:5b38.A;PDB-ENSP_mappings:5b39.A;PDB-ENSP_mappings:5def.A;PDB-ENSP_mappings:5deg.A;PDB-ENSP_mappings:5eo0.A;PDB-ENSP_mappings:5eo1.A;PDB-ENSP_mappings:5ib1.A;PDB-ENSP_mappings:5ib2.A;PDB-ENSP_mappings:5ib3.A;PDB-ENSP_mappings:5ib4.A;PDB-ENSP_mappings:5ib5.A;PDB-ENSP_mappings:5ib5.D;PDB-ENSP_mappings:5ieh.A;PDB-ENSP_mappings:5iek.A;PDB-ENSP_mappings:5im7.A;PDB-ENSP_mappings:5im7.C;PDB-ENSP_mappings:5inc.A;PDB-ENSP_mappings:5inc.C;PDB-ENSP_mappings:5ind.A;PDB-ENSP_mappings:5ind.C;PDB-ENSP_mappings:5t6w.A;PDB-ENSP_mappings:5t6x.A;PDB-ENSP_mappings:5t6y.A;PDB-ENSP_mappings:5t6z.A;PDB-ENSP_mappings:5t70.A;PDB-ENSP_mappings:5txs.A;PDB-ENSP_mappings:5u98.A;PDB-ENSP_mappings:5u98.D;PDB-ENSP_mappings:5v5l.A;PDB-ENSP_mappings:5v5l.C;PDB-ENSP_mappings:5v5m.A;PDB-ENSP_mappings:5v5m.C;PDB-ENSP_mappings:5vud.A;PDB-ENSP_mappings:5vue.A;PDB-ENSP_mappings:5vuf.A;PDB-ENSP_mappings:5vwd.A;PDB-ENSP_mappings:5vwf.A;PDB-ENSP_mappings:5vwh.A;PDB-ENSP_mappings:5vwj.A;PDB-ENSP_mappings:5vz5.A;PDB-ENSP_mappings:5wmn.A;PDB-ENSP_mappings:5wmn.C;PDB-ENSP_mappings:5wmp.A;PDB-ENSP_mappings:5wmq.A;PDB-ENSP_mappings:5wmr.A;PDB-ENSP_mappings:5xos.A;PDB-ENSP_mappings:5xot.A;PDB-ENSP_mappings:6at5.A;PDB-ENSP_mappings:6avf.H;PDB-ENSP_mappings:6avg.F;PDB-ENSP_mappings:6avg.G;PDB-ENSP_mappings:6bj2.A;PDB-ENSP_mappings:6bj3.A;PDB-ENSP_mappings:6bj8.A;PDB-ENSP_mappings:6bxp.A;PDB-ENSP_mappings:6bxq.B;PDB-ENSP_mappings:6d29.A;PDB-ENSP_mappings:6d2b.A;PDB-ENSP_mappings:6d2r.A;PDB-ENSP_mappings:6d2t.A;PDB-ENSP_mappings:6mt3.A;PDB-ENSP_mappings:6mt4.A;PDB-ENSP_mappings:6mt5.A;PDB-ENSP_mappings:6mt6.A;PDB-ENSP_mappings:6mtl.A;PDB-ENSP_mappings:6mtm.A;PDB-ENSP_mappings:6p23.A;PDB-ENSP_mappings:6p27.A;PDB-ENSP_mappings:6p2c.A;PDB-ENSP_mappings:6p2f.A;PDB-ENSP_mappings:6p2s.A;PDB-ENSP_mappings:6pyl.A;PDB-ENSP_mappings:6pyv.A;PDB-ENSP_mappings:6pyw.A;PDB-ENSP_mappings:6pz5.A;Pfam:PF07654;PROSITE_profiles:PS50835;PANTHER:PTHR16675;PANTHER:PTHR16675:SF186;SMART:SM00407;Superfamily:SSF48726;CDD:cd07698",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,1,"ACTTCTGGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3861665","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC39A7",7922,"BI","GRCh38","chr6",33201265,33201265,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.25del","p.His9ThrfsTer8","p.H9Tfs*8","ENST00000374675","2024-02-08",180,125,55,177,null,null,"SLC39A7,frameshift_variant,p.H9Tfs*8,ENST00000374677,NM_006979.3&NM_001288777.2,c.25del,HIGH,YES,,,1;SLC39A7,frameshift_variant,p.H9Tfs*8,ENST00000374675,NM_001077516.2,c.25del,HIGH,,,,1;SLC39A7,intron_variant,,ENST00000444757,,c.141+332del,MODIFIER,,,,1;HSD17B8,upstream_gene_variant,,ENST00000374662,NM_014234.5,,MODIFIER,YES,,,1;RXRB,upstream_gene_variant,,ENST00000374680,NM_021976.5,,MODIFIER,,,,-1;RXRB,upstream_gene_variant,,ENST00000374685,NM_001291989.1&NM_001270401.2,,MODIFIER,YES,,,-1;RNY4P10,downstream_gene_variant,,ENST00000365571,,,MODIFIER,YES,,,1;SLC39A7,upstream_gene_variant,,ENST00000463972,,,MODIFIER,,,,1;HSD17B8,upstream_gene_variant,,ENST00000469186,,,MODIFIER,,,,1;RXRB,upstream_gene_variant,,ENST00000481441,,,MODIFIER,,,,-1;RXRB,upstream_gene_variant,,ENST00000483281,,,MODIFIER,,,,-1","-","ENSG00000112473","ENST00000374675","Transcript","frameshift_variant","frameshift_variant","137/2153","20/1410","7/469","A/X","gCc/gc",null,null,1,"SLC39A7","HGNC","HGNC:4927","protein_coding",null,"CCDS43453.1","ENSP00000363807","Q92504.172","A0A024RCX7.35","UPI0000046C3F",null,"NM_001077516.2",null,"P1",{"$nulls":3},"2024-02-08",null,"Cleavage_site_(Signalp):SignalP-noTM;Transmembrane_helices:TMhelix",{"$nulls":19},"6.762879820598755e-06",0,0,0,0,0,0,0,"1.5436900866916403e-05",0,0,{"$nulls":11},"HIGH",null,"deletion",1,5,null,null,"TGGGGGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RGL2",5863,"BI","GRCh38","chr6",33296187,33296188,"+","Frame_Shift_Ins","INS","-","-","C","rs762949421",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.608dup","p.Ser204GlnfsTer3","p.S204Qfs*3","ENST00000497454","2024-06-18",217,158,58,264,null,null,"RGL2,frameshift_variant,p.S204Qfs*3,ENST00000497454,NM_001243738.1&NM_004761.5,c.608dup,HIGH,YES,,,-1;PFDN6,intron_variant,,ENST00000463584,,c.261-634dup,MODIFIER,,,,1;RGL2,downstream_gene_variant,,ENST00000425946,,,MODIFIER,,,,-1;TAPBP,downstream_gene_variant,,ENST00000434618,NM_003190.5,,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,,n.513dup,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000485077,,n.931dup,MODIFIER,,,,-1;RGL2,intron_variant,,ENST00000491168,,n.302+226dup,MODIFIER,,,,-1;RGL2,upstream_gene_variant,,ENST00000471319,,,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,,n.519dup,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000494550,,n.645dup,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000478610,,n.508dup,MODIFIER,,,,-1;RGL2,non_coding_transcript_exon_variant,,ENST00000460988,,n.723dup,MODIFIER,,,,-1;RGL2,upstream_gene_variant,,ENST00000476616,,,MODIFIER,,,,-1","C","ENSG00000237441","ENST00000497454","Transcript","frameshift_variant","frameshift_variant","722-723/2896","608-609/2334","203/777","G/GX","ggc/ggGc","rs762949421",null,-1,"RGL2","HGNC","HGNC:9769","protein_coding","YES","CCDS4774.1","ENSP00000420211","O15211.172","A0A024RCS9.49","UPI0000001621","O15211-1","NM_001243738.1;NM_004761.5","NM_004761.5","P1",{"$nulls":3},"2024-06-18",null,"Low_complexity_(Seg):seg;PROSITE_profiles:PS50212;CDD:cd06224;PANTHER:PTHR23113;PANTHER:PTHR23113:SF213;Gene3D:1.20.870.10;SMART:SM00229;Superfamily:SSF48366",{"$nulls":8},0.000249,0.0003106,"8.696e-05",0.0005025,0,0,0.0003929,0.0003291,"9.825e-05",0.0005025,"gnomAD_ASJ","6.778279839636525e-06",0,0,0,0,0,0,0,0,0,0.000209379999432712,{"$nulls":11},"HIGH",1,"insertion",1,{"$nulls":3},"GCGCTGCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1443766;COSM4611468","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SYNGAP1",8831,"BI","GRCh38","chr6",33451772,33451772,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3903del","p.Leu1302TrpfsTer8","p.L1302Wfs*8","ENST00000646630","19/19",52,34,18,33,null,null,"SYNGAP1,frameshift_variant,p.L1302Wfs*8,ENST00000646630,NM_006772.3,c.3903del,HIGH,YES,,,1;SYNGAP1,frameshift_variant,p.L1302Wfs*8,ENST00000629380,,c.3903del,HIGH,,,,1;SYNGAP1,frameshift_variant,p.L1243Wfs*8,ENST00000428982,,c.3726del,HIGH,,,,1;SYNGAP1,frameshift_variant,p.P1301Lfs*?,ENST00000644458,,c.3902del,HIGH,,,,1;SYNGAP1,frameshift_variant,p.P1242Lfs*61,ENST00000645250,,c.3725del,HIGH,,,,1;SYNGAP1,frameshift_variant,p.P1285Lfs*?,ENST00000449372,NM_001130066.2,c.3854del,HIGH,,,,1;SYNGAP1,3_prime_UTR_variant,,ENST00000418600,,c.*57del,MODIFIER,,,,1;ZBTB9,upstream_gene_variant,,ENST00000395064,NM_152735.4,,MODIFIER,YES,,,1;ZBTB9,upstream_gene_variant,,ENST00000612407,,,MODIFIER,,,,1;ZBTB9,upstream_gene_variant,,ENST00000612775,,,MODIFIER,,,,1;ZBTB9,upstream_gene_variant,,ENST00000621915,,,MODIFIER,,,,1;SYNGAP1,downstream_gene_variant,,ENST00000628646,,,MODIFIER,,,,1;SYNGAP1,non_coding_transcript_exon_variant,,ENST00000636146,,n.107del,MODIFIER,,,,1;SYNGAP1,downstream_gene_variant,,ENST00000636436,,,MODIFIER,,,,1;SYNGAP1,3_prime_UTR_variant,,ENST00000293748,,c.*83del,MODIFIER,,,,1;SYNGAP1,downstream_gene_variant,,ENST00000470232,,,MODIFIER,,,,1;SYNGAP1-AS1,intron_variant,,ENST00000630418,,n.184+2498del,MODIFIER,YES,,,-1;SYNGAP1-AS1,downstream_gene_variant,,ENST00000614205,,,MODIFIER,,,,-1","-","ENSG00000197283","ENST00000646630","Transcript","frameshift_variant","frameshift_variant","4098/6015","3898/4032","1300/1343","P/X","Ccc/cc",null,null,1,"SYNGAP1","HGNC","HGNC:11497","protein_coding","YES","CCDS34434.2","ENSP00000496007","Q96PV0.167","A0A1U9X8L0.22","UPI0000470C44","Q96PV0-1","NM_006772.3","NM_006772.3","P4",{"$nulls":3},"19/19",null,"Pfam:PF12004;PANTHER:PTHR10194;PANTHER:PTHR10194:SF25;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",null,"deletion",null,5,null,1,"CAGCTTCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SNRPC",6631,"BI","GRCh38","chr6",34767984,34767985,"+","Frame_Shift_Ins","INS","-","-","C","rs1472546666",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.243dup","p.Ser82GlnfsTer104","p.S82Qfs*104","ENST00000244520","2024-04-06",98,63,34,51,null,null,"SNRPC,frameshift_variant,p.S103Qfs*104,ENST00000374017,,c.306dup,HIGH,YES,,,1;SNRPC,frameshift_variant,p.S82Qfs*104,ENST00000244520,NM_003093.3,c.243dup,HIGH,,,,1;SNRPC,frameshift_variant,p.S41Qfs*104,ENST00000374018,,c.120dup,HIGH,,,,1;SNRPC,non_coding_transcript_exon_variant,,ENST00000474635,,n.235dup,MODIFIER,,,,1","C","ENSG00000124562","ENST00000244520","Transcript","frameshift_variant","frameshift_variant","276-277/806","237-238/480","79-80/159","-/X","-/C","rs1472546666",null,1,"SNRPC","HGNC","HGNC:11157","protein_coding",null,"CCDS34436.1","ENSP00000244520","P09234.185","Q5TAL4.135","UPI00001352E7",null,"NM_003093.3","NM_003093.3","P1",{"$nulls":3},"2024-04-06",null,"PDB-ENSP_mappings:6qx9.1C;Low_complexity_(Seg):seg;HAMAP:MF_03153;PANTHER:PTHR31148:SF1;PANTHER:PTHR31148;PIRSF:PIRSF037969",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",null,"insertion",1,6,null,null,"CCACCTCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CPNE5",57699,"BI","GRCh38","chr6",36742429,36742429,"+","Missense_Mutation","SNP","G","G","A","rs938648583",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1621C>T","p.Arg541Cys","p.R541C","ENST00000244751","21/21",188,144,44,186,null,null,"CPNE5,missense_variant,p.R541C,ENST00000244751,NM_001376889.1&NM_020939.2,c.1621C>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.973),-1;CPNE5,missense_variant,p.R249C,ENST00000393189,NM_001376888.1&NM_001376890.1&NM_001314020.2&NM_001376891.1&NM_001376894.1&NM_001314019.2&NM_001314018.1&NM_001376892.1&NM_001376895.1&NM_001376893.1,c.745C>T,MODERATE,,deleterious(0.01),probably_damaging(0.973),-1;CPNE5,non_coding_transcript_exon_variant,,ENST00000459703,,n.904C>T,MODIFIER,,,,-1;CPNE5,non_coding_transcript_exon_variant,,ENST00000493411,,n.801C>T,MODIFIER,,,,-1;CPNE5,downstream_gene_variant,,ENST00000633929,,,MODIFIER,,,,-1;Z85996.1,downstream_gene_variant,,ENST00000494644,,,MODIFIER,YES,,,1","A","ENSG00000124772","ENST00000244751","Transcript","missense_variant","missense_variant","1688/3342","1621/1782","541/593","R/C","Cgc/Tgc","rs938648583;COSV55197391",null,-1,"CPNE5","HGNC","HGNC:2318","protein_coding","YES","CCDS4825.1","ENSP00000244751","Q9HCH3.148",null,"UPI0000127C15","Q9HCH3-1","NM_001376889.1;NM_020939.2","NM_020939.2","P1",null,"deleterious(0.04)","probably_damaging(0.973)","21/21",null,"PROSITE_profiles:PS50234;CDD:cd01459;PANTHER:PTHR10857;PANTHER:PTHR10857:SF51;Pfam:PF07002",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CAGGCGGGCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3873542","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PIM1",5292,"BI","GRCh38","chr6",37173001,37173001,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.613C>T","p.Arg205Ter","p.R205*","ENST00000373509","2024-05-06",129,90,39,109,null,null,"PIM1,stop_gained,p.R205*,ENST00000373509,NM_002648.4&NM_001243186.2,c.613C>T,HIGH,YES,,,1;PIM1,non_coding_transcript_exon_variant,,ENST00000468243,,n.333C>T,MODIFIER,,,,1;PIM1,non_coding_transcript_exon_variant,,ENST00000479509,,n.125C>T,MODIFIER,,,,1","T","ENSG00000137193","ENST00000373509","Transcript","stop_gained","stop_gained","1037/2703","613/942","205/313","R/*","Cga/Tga","COSV65165948",null,1,"PIM1","HGNC","HGNC:8986","protein_coding","YES","CCDS4830.1","ENSP00000362608","P11309.235","A0A024RD25.39","UPI0000001060","P11309-1","NM_002648.4;NM_001243186.2","NM_002648.4","P1",{"$nulls":3},"2024-05-06",null,"Gene3D:1.10.510.10;PDB-ENSP_mappings:1xqz.A;PDB-ENSP_mappings:1xr1.A;PDB-ENSP_mappings:1xws.A;PDB-ENSP_mappings:1yhs.A;PDB-ENSP_mappings:1yi3.A;PDB-ENSP_mappings:1yi4.A;PDB-ENSP_mappings:1ywv.A;PDB-ENSP_mappings:1yxs.A;PDB-ENSP_mappings:1yxt.A;PDB-ENSP_mappings:1yxu.A;PDB-ENSP_mappings:1yxu.B;PDB-ENSP_mappings:1yxu.C;PDB-ENSP_mappings:1yxu.D;PDB-ENSP_mappings:1yxv.A;PDB-ENSP_mappings:1yxx.A;PDB-ENSP_mappings:2bik.B;PDB-ENSP_mappings:2bil.B;PDB-ENSP_mappings:2bzh.B;PDB-ENSP_mappings:2bzi.B;PDB-ENSP_mappings:2bzj.A;PDB-ENSP_mappings:2bzk.B;PDB-ENSP_mappings:2c3i.B;PDB-ENSP_mappings:2j2i.B;PDB-ENSP_mappings:2o3p.A;PDB-ENSP_mappings:2o63.A;PDB-ENSP_mappings:2o64.A;PDB-ENSP_mappings:2o65.A;PDB-ENSP_mappings:2obj.A;PDB-ENSP_mappings:2oi4.X;PDB-ENSP_mappings:2xix.A;PDB-ENSP_mappings:2xiy.A;PDB-ENSP_mappings:2xiz.A;PDB-ENSP_mappings:2xj0.A;PDB-ENSP_mappings:2xj1.A;PDB-ENSP_mappings:2xj2.A;PDB-ENSP_mappings:3a99.A;PDB-ENSP_mappings:3bgp.A;PDB-ENSP_mappings:3bgq.A;PDB-ENSP_mappings:3bgz.A;PDB-ENSP_mappings:3bwf.A;PDB-ENSP_mappings:3c4e.A;PDB-ENSP_mappings:3c4e.B;PDB-ENSP_mappings:3c4e.C;PDB-ENSP_mappings:3c4e.D;PDB-ENSP_mappings:3cxw.A;PDB-ENSP_mappings:3cy2.A;PDB-ENSP_mappings:3cy3.A;PDB-ENSP_mappings:3dcv.A;PDB-ENSP_mappings:3f2a.A;PDB-ENSP_mappings:3jpv.A;PDB-ENSP_mappings:3jxw.A;PDB-ENSP_mappings:3jy0.A;PDB-ENSP_mappings:3jya.A;PDB-ENSP_mappings:3ma3.A;PDB-ENSP_mappings:3qf9.A;PDB-ENSP_mappings:3r00.A;PDB-ENSP_mappings:3r01.A;PDB-ENSP_mappings:3r02.A;PDB-ENSP_mappings:3r04.A;PDB-ENSP_mappings:3t9i.A;PDB-ENSP_mappings:3uix.A;PDB-ENSP_mappings:3umw.A;PDB-ENSP_mappings:3umx.A;PDB-ENSP_mappings:3vbq.A;PDB-ENSP_mappings:3vbt.A;PDB-ENSP_mappings:3vbv.A;PDB-ENSP_mappings:3vbw.A;PDB-ENSP_mappings:3vbx.A;PDB-ENSP_mappings:3vby.A;PDB-ENSP_mappings:3vc4.A;PDB-ENSP_mappings:3we8.A;PDB-ENSP_mappings:4a7c.A;PDB-ENSP_mappings:4alu.A;PDB-ENSP_mappings:4alv.A;PDB-ENSP_mappings:4alw.A;PDB-ENSP_mappings:4as0.A;PDB-ENSP_mappings:4bzn.A;PDB-ENSP_mappings:4bzo.A;PDB-ENSP_mappings:4dtk.A;PDB-ENSP_mappings:4enx.A;PDB-ENSP_mappings:4eny.A;PDB-ENSP_mappings:4gw8.A;PDB-ENSP_mappings:4i41.A;PDB-ENSP_mappings:4iaa.A;PDB-ENSP_mappings:4jx3.A;PDB-ENSP_mappings:4jx7.A;PDB-ENSP_mappings:4k0y.A;PDB-ENSP_mappings:4k18.A;PDB-ENSP_mappings:4k1b.A;PDB-ENSP_mappings:4ll5.A;PDB-ENSP_mappings:4lm5.A;PDB-ENSP_mappings:4lmu.A;PDB-ENSP_mappings:4mbi.A;PDB-ENSP_mappings:4mbl.A;PDB-ENSP_mappings:4med.A;PDB-ENSP_mappings:4mta.A;PDB-ENSP_mappings:4n6y.A;PDB-ENSP_mappings:4n6z.A;PDB-ENSP_mappings:4n70.A;PDB-ENSP_mappings:4rbl.A;PDB-ENSP_mappings:4rc2.A;PDB-ENSP_mappings:4rc3.A;PDB-ENSP_mappings:4rc4.A;PDB-ENSP_mappings:4rpv.A;PDB-ENSP_mappings:4ty1.A;PDB-ENSP_mappings:4wrs.A;PDB-ENSP_mappings:4wsy.A;PDB-ENSP_mappings:4wt6.A;PDB-ENSP_mappings:4xh6.A;PDB-ENSP_mappings:4xhk.B;PDB-ENSP_mappings:5c1q.B;PDB-ENSP_mappings:5dgz.A;PDB-ENSP_mappings:5dhj.A;PDB-ENSP_mappings:5dia.A;PDB-ENSP_mappings:5dwr.A;PDB-ENSP_mappings:5eol.A;PDB-ENSP_mappings:5iis.A;PDB-ENSP_mappings:5ipj.A;PDB-ENSP_mappings:5kcx.A;PDB-ENSP_mappings:5kgd.A;PDB-ENSP_mappings:5kge.A;PDB-ENSP_mappings:5kgg.A;PDB-ENSP_mappings:5kgi.A;PDB-ENSP_mappings:5kgk.A;PDB-ENSP_mappings:5kzi.A;PDB-ENSP_mappings:5mzl.A;PDB-ENSP_mappings:5n4n.A;PDB-ENSP_mappings:5n4o.A;PDB-ENSP_mappings:5n4r.A;PDB-ENSP_mappings:5n4u.A;PDB-ENSP_mappings:5n4v.A;PDB-ENSP_mappings:5n4x.A;PDB-ENSP_mappings:5n4y.A;PDB-ENSP_mappings:5n4z.A;PDB-ENSP_mappings:5n50.A;PDB-ENSP_mappings:5n51.A;PDB-ENSP_mappings:5n52.A;PDB-ENSP_mappings:5n5l.A;PDB-ENSP_mappings:5n5m.A;PDB-ENSP_mappings:5ndt.A;PDB-ENSP_mappings:5o11.A;PDB-ENSP_mappings:5o12.A;PDB-ENSP_mappings:5o13.A;PDB-ENSP_mappings:5tel.A;PDB-ENSP_mappings:5tex.A;PDB-ENSP_mappings:5toe.A;PDB-ENSP_mappings:5tur.A;PDB-ENSP_mappings:5v80.A;PDB-ENSP_mappings:5v82.A;PDB-ENSP_mappings:5vua.B;PDB-ENSP_mappings:5vub.B;PDB-ENSP_mappings:5vuc.B;PDB-ENSP_mappings:6ayd.A;PDB-ENSP_mappings:6bsk.A;PDB-ENSP_mappings:6kzi.A;PDB-ENSP_mappings:6l11.A;PDB-ENSP_mappings:6l12.A;PDB-ENSP_mappings:6l13.A;PDB-ENSP_mappings:6l14.A;PDB-ENSP_mappings:6l15.A;PDB-ENSP_mappings:6l16.A;PDB-ENSP_mappings:6mt0.A;PDB-ENSP_mappings:6no8.A;PDB-ENSP_mappings:6no9.A;PDB-ENSP_mappings:6pcw.A;PDB-ENSP_mappings:6pdi.A;PDB-ENSP_mappings:6pdn.A;PDB-ENSP_mappings:6pdo.A;PDB-ENSP_mappings:6pdp.A;PDB-ENSP_mappings:6qxk.B;Pfam:PF00069;PIRSF:PIRSF037993;PROSITE_profiles:PS50011;PANTHER:PTHR22984;PANTHER:PTHR22984:SF26;SMART:SM00220;Superfamily:SSF56112;CDD:cd14100",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"GGACCCGAGTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3873580","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH8",1769,"BI","GRCh38","chr6",38823633,38823633,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3141G>T","p.Gln1047His","p.Q1047H","ENST00000359357","26/91",69,59,9,57,null,null,"DNAH8,missense_variant,p.Q1264H,ENST00000327475,NM_001206927.2,c.3792G>T,MODERATE,YES,tolerated(0.09),possibly_damaging(0.784),1;DNAH8,missense_variant,p.Q1047H,ENST00000359357,NM_001371.4,c.3141G>T,MODERATE,,tolerated(0.09),benign(0.022),1;DNAH8,missense_variant,p.Q1264H,ENST00000449981,,c.3792G>T,MODERATE,,tolerated(0.09),possibly_damaging(0.669),1;AL035555.1,upstream_gene_variant,,ENST00000391284,,,MODIFIER,YES,,,-1","T","ENSG00000124721","ENST00000359357","Transcript","missense_variant","missense_variant","3395/13864","3141/13473","1047/4490","Q/H","caG/caT","COSV59455240",null,1,"DNAH8","HGNC","HGNC:2952","protein_coding",null,null,"ENSP00000352312","Q96JB1.136",null,"UPI00003677EB","Q96JB1-1","NM_001371.4",null,"A2",null,"tolerated(0.09)","benign(0.022)","26/91",null,"PANTHER:PTHR10676;PANTHER:PTHR10676:SF361",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"GAACAGGAGAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3873695;COSM3873696;COSM3873697","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH8",1769,"BI","GRCh38","chr6",39030189,39030189,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.13270G>A","p.Val4424Ile","p.V4424I","ENST00000359357","91/91",132,125,7,104,null,null,"DNAH8,missense_variant,p.V4641I,ENST00000327475,NM_001206927.2,c.13921G>A,MODERATE,YES,tolerated(0.16),benign(0.269),1;DNAH8,missense_variant,p.V4424I,ENST00000359357,NM_001371.4,c.13270G>A,MODERATE,,tolerated(0.19),possibly_damaging(0.525),1","A","ENSG00000124721","ENST00000359357","Transcript","missense_variant","missense_variant","13524/13864","13270/13473","4424/4490","V/I","Gta/Ata","COSV59455265",null,1,"DNAH8","HGNC","HGNC:2952","protein_coding",null,null,"ENSP00000352312","Q96JB1.136",null,"UPI00003677EB","Q96JB1-1","NM_001371.4",null,"A2",null,"tolerated(0.19)","possibly_damaging(0.525)","91/91",null,"Gene3D:3.10.490.20;Pfam:PF18199;PANTHER:PTHR10676;PANTHER:PTHR10676:SF361",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CCAAGGTACTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3873818;COSM3873819","N","Unknown",{"$nulls":3},"muse;mutect2"]
["EYS",346007,"BI","GRCh38","chr6",65344117,65344117,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1520G>A","p.Cys507Tyr","p.C507Y","ENST00000370621","10/44",84,50,33,77,null,null,"EYS,missense_variant,p.C507Y,ENST00000503581,NM_001142800.2,c.1520G>A,MODERATE,,tolerated(0.06),benign(0.314),-1;EYS,missense_variant,p.C507Y,ENST00000370621,NM_001292009.1,c.1520G>A,MODERATE,YES,tolerated(0.06),benign(0.166),-1;EYS,missense_variant,p.C507Y,ENST00000393380,NM_001142801.2,c.1520G>A,MODERATE,,tolerated(0.07),benign(0.397),-1;EYS,missense_variant,p.C507Y,ENST00000342421,NM_198283.1,c.1520G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.601),-1","T","ENSG00000188107","ENST00000370621","Transcript","missense_variant","missense_variant","2047/10485","1520/9498","507/3165","C/Y","tGc/tAc","COSV60986007;COSV60989197",null,-1,"EYS","HGNC","HGNC:21555","protein_coding","YES","CCDS78156.1","ENSP00000359655","Q5T1H1.126",null,"UPI0001AE72B3","Q5T1H1-3","NM_001292009.1",null,"P4",null,"tolerated(0.06)","benign(0.166)","10/44",{"$nulls":21},"6.800320079491939e-06","2.4421200578217395e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CAGTGCAGTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3875107;COSM3875108","N","Unknown",{"$nulls":3},"muse;varscan2"]
["COL9A1",1297,"BI","GRCh38","chr6",70281418,70281418,"+","Frame_Shift_Del","DEL","G","G","-","rs941174282",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.848del","p.Pro283LeufsTer45","p.P283Lfs*45","ENST00000357250","8/38",45,37,8,50,null,null,"COL9A1,frameshift_variant,p.P283Lfs*45,ENST00000357250,NM_001851.6,c.848del,HIGH,YES,,,-1;COL9A1,frameshift_variant,p.P40Lfs*45,ENST00000320755,NM_001377290.1&NM_078485.4&NM_001377289.1,c.119del,HIGH,,,,-1;COL9A1,frameshift_variant,p.P283Lfs*53,ENST00000370496,NM_001377291.1,c.848del,HIGH,,,,-1;COL9A1,upstream_gene_variant,,ENST00000489611,,,MODIFIER,,,,-1;COL9A1,frameshift_variant,p.P40Lfs*80,ENST00000644493,,c.119del,HIGH,,,,-1","-","ENSG00000112280","ENST00000357250","Transcript","frameshift_variant","frameshift_variant","1008/3697","848/2766","283/921","P/X","cCt/ct","rs941174282",null,-1,"COL9A1","HGNC","HGNC:2217","protein_coding","YES","CCDS4971.1","ENSP00000349790","P20849.212",null,"UPI000020D14B","P20849-1","NM_001851.6","NM_001851.6","P1",{"$nulls":3},"8/38",null,"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023:SF981;Low_complexity_(Seg):seg",{"$nulls":8},"8.007e-06","6.295e-05",0,0,0,0,"8.858e-06",0,0,"6.295e-05","gnomAD_AFR","6.821100214438047e-06","2.4584500351920724e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,null,null,1,"ACTCCAGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["COL9A1",1297,"BI","GRCh38","chr6",70281424,70281424,"+","Missense_Mutation","SNP","C","C","G","rs745369282",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.842G>C","p.Gly281Ala","p.G281A","ENST00000357250","8/38",44,34,10,50,null,null,"COL9A1,missense_variant,p.G281A,ENST00000357250,NM_001851.6,c.842G>C,MODERATE,YES,deleterious(0.04),probably_damaging(0.999),-1;COL9A1,missense_variant,p.G38A,ENST00000320755,NM_001377290.1&NM_078485.4&NM_001377289.1,c.113G>C,MODERATE,,tolerated(0.07),probably_damaging(0.998),-1;COL9A1,missense_variant,p.G281A,ENST00000370496,NM_001377291.1,c.842G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;COL9A1,upstream_gene_variant,,ENST00000489611,,,MODIFIER,,,,-1;COL9A1,missense_variant,p.G38A,ENST00000644493,,c.113G>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),-1","G","ENSG00000112280","ENST00000357250","Transcript","missense_variant","missense_variant","1002/3697","842/2766","281/921","G/A","gGc/gCc","rs745369282;COSV57878243;COSV57881698",null,-1,"COL9A1","HGNC","HGNC:2217","protein_coding","YES","CCDS4971.1","ENSP00000349790","P20849.212",null,"UPI000020D14B","P20849-1","NM_001851.6","NM_001851.6","P1",null,"deleterious(0.04)","probably_damaging(0.999)","8/38",null,"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023:SF981;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"8.017e-06",0,"2.901e-05",0,0,0,"8.875e-06",0,0,"2.901e-05","gnomAD_AMR",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GGGGGCCCGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;varscan2"]
["MYO6",4646,"BI","GRCh38","chr6",75881794,75881794,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2392T>C","p.Trp798Arg","p.W798R","ENST00000369981","23/36",144,98,46,156,null,null,"MYO6,missense_variant,p.W798R,ENST00000369981,,c.2392T>C,MODERATE,YES,deleterious(0.02),probably_damaging(0.999),1;MYO6,missense_variant,p.W798R,ENST00000664640,NM_001368865.1,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;MYO6,missense_variant,p.W798R,ENST00000369977,NM_004999.4,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;MYO6,missense_variant,p.W798R,ENST00000369985,NM_001300899.2&NM_001368138.1,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.993),1;MYO6,missense_variant,p.W798R,ENST00000369975,NM_001368136.1,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.996),1;MYO6,missense_variant,p.W798R,ENST00000615563,,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.993),1;MYO6,missense_variant,p.W798R,ENST00000672093,NM_001368866.1&NM_001368137.1,c.2392T>C,MODERATE,,deleterious(0.02),possibly_damaging(0.889),1;MYO6,missense_variant,p.W801R,ENST00000627432,,c.2401T>C,MODERATE,,deleterious(0.02),possibly_damaging(0.84),1;MYO6,missense_variant,p.W798R,ENST00000662603,,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),1;MYO6,missense_variant,p.W798R,ENST00000664209,,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),1;MYO6,missense_variant,p.W798R,ENST00000653423,,c.2392T>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),1;MYO6,3_prime_UTR_variant,,ENST00000671923,,c.*499T>C,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000653917,,c.*499T>C,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000663400,,c.*417T>C,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000662184,,c.*499T>C,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000462633,,c.*1948T>C,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000660420,,c.*2348T>C,MODIFIER,,,,1","C","ENSG00000196586","ENST00000369981","Transcript","missense_variant","missense_variant","2671/8692","2392/3888","798/1295","W/R","Tgg/Cgg","COSV64119515",null,1,"MYO6","HGNC","HGNC:7605","protein_coding","YES",null,"ENSP00000358998",null,"E7EW20.72","UPI0001AE7292",{"$nulls":3},"A1",null,"deleterious(0.02)","probably_damaging(0.999)","23/36",null,"PANTHER:PTHR13140:SF745;PANTHER:PTHR13140;Gene3D:1.10.3060.20;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"TTCAGTGGTGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3875601;COSM3875602","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRDM13",59336,"BI","GRCh38","chr6",99614647,99614647,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2012G>A","p.Gly671Asp","p.G671D","ENST00000369215","2024-04-04",59,37,22,50,null,null,"PRDM13,missense_variant,p.G671D,ENST00000369215,NM_021620.4,c.2012G>A,MODERATE,YES,tolerated_low_confidence(0.33),benign(0),1;PRDM13,3_prime_UTR_variant,,ENST00000369214,,c.*1674G>A,MODIFIER,,,,1","A","ENSG00000112238","ENST00000369215","Transcript","missense_variant","missense_variant","2214/3129","2012/2124","671/707","G/D","gGc/gAc","COSV65030063",null,1,"PRDM13","HGNC","HGNC:13998","protein_coding","YES","CCDS43487.1","ENSP00000358217","Q9H4Q3.153",null,"UPI000047099D",null,"NM_021620.4","NM_021620.4","P1",null,"tolerated_low_confidence(0.33)","benign(0)","2024-04-04",null,"PANTHER:PTHR16515;PANTHER:PTHR16515:SF21;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCCCGGCTATC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3857086;COSM3857087","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATG5",9474,"BI","GRCh38","chr6",106186664,106186664,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.704del","p.Lys235ArgfsTer4","p.K235Rfs*4","ENST00000343245","2024-08-08",57,39,17,53,null,null,"ATG5,frameshift_variant,p.K235Rfs*4,ENST00000369076,NM_001286108.1&NM_004849.4,c.704del,HIGH,YES,,,-1;ATG5,frameshift_variant,p.K235Rfs*4,ENST00000343245,NM_001286106.1,c.704del,HIGH,,,,-1;ATG5,frameshift_variant,p.K157Rfs*4,ENST00000635758,NM_001286107.1,c.470del,HIGH,,,,-1;ATG5,3_prime_UTR_variant,,ENST00000360666,NM_001286111.1,c.*58del,MODIFIER,,,,-1;ATG5,3_prime_UTR_variant,,ENST00000613993,,c.*120del,MODIFIER,,,,-1;ATG5,intron_variant,,ENST00000636437,,c.457+15308del,MODIFIER,,,,-1;ATG5,non_coding_transcript_exon_variant,,ENST00000475645,,n.471del,MODIFIER,,,,-1;ATG5,3_prime_UTR_variant,,ENST00000369070,,c.*441del,MODIFIER,,,,-1;ATG5,3_prime_UTR_variant,,ENST00000646025,,c.*140del,MODIFIER,,,,-1;ATG5,intron_variant,,ENST00000636335,,c.457+15308del,MODIFIER,,,,-1","-","ENSG00000057663","ENST00000343245","Transcript","frameshift_variant","frameshift_variant","904/3092","704/828","235/275","K/X","aAg/ag",null,null,-1,"ATG5","HGNC","HGNC:589","protein_coding",null,"CCDS5055.1","ENSP00000343313","Q9H1Y0.176","A9UGY9.113","UPI0000125C62","Q9H1Y0-1","NM_001286106.1",null,"P1",{"$nulls":3},"2024-08-08",null,"PDB-ENSP_mappings:4gdk.B;PDB-ENSP_mappings:4gdk.E;PDB-ENSP_mappings:4gdl.B;PDB-ENSP_mappings:4naw.B;PDB-ENSP_mappings:4naw.F;PDB-ENSP_mappings:4naw.J;PDB-ENSP_mappings:4naw.N;PDB-ENSP_mappings:4tq0.A;PDB-ENSP_mappings:4tq0.C;PDB-ENSP_mappings:4tq0.E;PDB-ENSP_mappings:4tq1.A;PDB-ENSP_mappings:5d7g.A;PDB-ENSP_mappings:5d7g.C;PDB-ENSP_mappings:5d7g.E;PDB-ENSP_mappings:5d7g.G;PDB-ENSP_mappings:5npv.A;PDB-ENSP_mappings:5npv.C;PDB-ENSP_mappings:5npw.A;PDB-ENSP_mappings:5npw.C;PDB-ENSP_mappings:5npw.E;PDB-ENSP_mappings:5npw.G;PANTHER:PTHR13040;Gene3D:3.10.20.90;Pfam:PF04106",{"$nulls":41},"HIGH",null,"deletion",1,null,null,1,"TGATTCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3154369","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SLC22A16",85413,"BI","GRCh38","chr6",110456866,110456866,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.205T>C","p.Trp69Arg","p.W69R","ENST00000368919","2024-02-08",95,65,29,100,null,null,"SLC22A16,missense_variant,p.W69R,ENST00000368919,NM_033125.4,c.205T>C,MODERATE,YES,tolerated(0.57),benign(0.067),-1;SLC22A16,missense_variant,p.W26R,ENST00000437378,,c.76T>C,MODERATE,,tolerated(0.58),benign(0.067),-1;SLC22A16,missense_variant,p.W26R,ENST00000424139,,c.76T>C,MODERATE,,tolerated(0.57),benign(0.067),-1;SLC22A16,intron_variant,,ENST00000330550,,c.165+34T>C,MODIFIER,,,,-1;SLC22A16,intron_variant,,ENST00000434949,,c.23+34T>C,MODIFIER,,,,-1;SLC22A16,upstream_gene_variant,,ENST00000451557,,,MODIFIER,,,,-1;SLC22A16,non_coding_transcript_exon_variant,,ENST00000461487,,n.272T>C,MODIFIER,,,,-1","G","ENSG00000004809","ENST00000368919","Transcript","missense_variant","missense_variant","244/1959","205/1734","69/577","W/R","Tgg/Cgg","COSV57930999",null,-1,"SLC22A16","HGNC","HGNC:20302","protein_coding","YES","CCDS5084.1","ENSP00000357915","Q86VW1.151","A0A0K0K1K9.30","UPI000000DC13","Q86VW1-1","NM_033125.4","NM_033125.4","P4",null,"tolerated(0.57)","benign(0.067)","2024-02-08",null,"PANTHER:PTHR24064;PANTHER:PTHR24064:SF186",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACTCCAATTAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3857505;COSM3857506","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SOGA3",387104,"BI","GRCh38","chr6",127515893,127515893,"+","Frame_Shift_Del","DEL","C","C","-","rs778091058",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.722del","p.Gly241AlafsTer133","p.G241Afs*133","ENST00000525778","2024-02-07",55,43,12,62,null,null,"SOGA3,frameshift_variant,p.G241Afs*133,ENST00000525778,NM_001012279.3,c.722del,HIGH,YES,,,-1;SOGA3,frameshift_variant,p.G241Afs*133,ENST00000465909,,c.722del,HIGH,,,,-1;SOGA3,downstream_gene_variant,,ENST00000467753,,,MODIFIER,,,,-1;C6orf58,upstream_gene_variant,,ENST00000498112,,,MODIFIER,,,,1;AL096711.2,frameshift_variant,p.G241Afs*133,ENST00000481848,,c.722del,HIGH,YES,,,-1","-","ENSG00000214338","ENST00000525778","Transcript","frameshift_variant","frameshift_variant","1468/4077","722/2844","241/947","G/X","gGc/gc","rs778091058;COSV100846885",null,-1,"SOGA3","HGNC","HGNC:21494","protein_coding","YES","CCDS43505.1","ENSP00000434570","Q5TF21.118",null,"UPI0000419273",null,"NM_001012279.3",null,"P4",{"$nulls":3},"2024-02-07",null,"PANTHER:PTHR15742;PANTHER:PTHR15742:SF2;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","6.777269845770206e-06",0,0,"6.633940211031586e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",1,"deletion",5,null,"0;1",null,"CTGCCGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1440305","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AHI1",54806,"BI","GRCh38","chr6",135463146,135463146,"+","Frame_Shift_Del","DEL","T","T","-","rs753874898",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.910del","p.Thr304GlnfsTer23","p.T304Qfs*23","ENST00000265602","2024-08-29",43,23,20,42,null,null,"AHI1,frameshift_variant,p.T304Qfs*23,ENST00000265602,NM_001134831.2&NM_001350503.1&NM_001350504.1,c.910del,HIGH,YES,,,-1;AHI1,frameshift_variant,p.T304Qfs*23,ENST00000367800,NM_001134830.1,c.910del,HIGH,,,,-1;AHI1,frameshift_variant,p.T304Qfs*23,ENST00000457866,NM_017651.4,c.910del,HIGH,,,,-1;AHI1,frameshift_variant,p.T304Qfs*23,ENST00000327035,NM_001134832.1,c.910del,HIGH,,,,-1;AHI1,frameshift_variant,p.T286Qfs*?,ENST00000524469,,c.856del,HIGH,,,,-1;AHI1,frameshift_variant,p.T304Qfs*23,ENST00000531788,,c.910del,HIGH,,,,-1","-","ENSG00000135541","ENST00000265602","Transcript","frameshift_variant","frameshift_variant","1269/6063","910/3591","304/1196","T/X","Aca/ca","rs753874898",null,-1,"AHI1","HGNC","HGNC:21575","protein_coding","YES","CCDS47483.1","ENSP00000265602","Q8N157.162",null,"UPI00000701FB","Q8N157-1","NM_001134831.2;NM_001350503.1;NM_001350504.1","NM_001134831.2","P1",{"$nulls":3},"2024-08-29",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR44499",{"$nulls":8},1.203E-4,"7.721e-05",1.507E-4,0.0004665,0.000143,0.0001609,"7.151e-05",0,0.0001645,0.0004665,"gnomAD_ASJ",{"$nulls":13},"pathogenic",{"$nulls":8},"HIGH",1,"deletion",1,null,1,1,"TTTTTGTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1440637","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["HECA",51696,"BI","GRCh38","chr6",139167171,139167171,"+","Missense_Mutation","SNP","G","G","A","rs766148085",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1159G>A","p.Ala387Thr","p.A387T","ENST00000367658","2024-02-04",61,40,21,40,null,null,"HECA,missense_variant,p.A387T,ENST00000367658,NM_016217.3,c.1159G>A,MODERATE,YES,tolerated(0.6),possibly_damaging(0.617),1;AL031772.1,non_coding_transcript_exon_variant,,ENST00000649069,,n.458C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000415194,,n.494+3229C>T,MODIFIER,,,,-1;AL158850.1,intron_variant,,ENST00000585874,,n.582+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000586229,,n.494+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000586266,,n.511+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000587577,,n.385+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000588529,,n.386-701C>T,MODIFIER,YES,,,-1;AL031772.1,intron_variant,,ENST00000588638,,n.385+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000589192,,n.385+3229C>T,MODIFIER,,,,-1;AL031772.1,intron_variant,,ENST00000590679,,n.555+3229C>T,MODIFIER,,,,-1;AL031772.1,downstream_gene_variant,,ENST00000585447,,,MODIFIER,,,,-1;AL031772.1,downstream_gene_variant,,ENST00000591102,,,MODIFIER,,,,-1","A","ENSG00000112406","ENST00000367658","Transcript","missense_variant","missense_variant","1476/5646","1159/1632","387/543","A/T","Gcg/Acg","rs766148085;COSV62768641",null,1,"HECA","HGNC","HGNC:21041","protein_coding","YES","CCDS5194.1","ENSP00000356630","Q9UBI9.126",null,"UPI000006D0F2",null,"NM_016217.3","NM_016217.3","P1",null,"tolerated(0.6)","possibly_damaging(0.617)","2024-02-04",null,"Pfam:PF16002;PANTHER:PTHR13425;PANTHER:PTHR13425:SF3",{"$nulls":8},"2.388e-05",0,0,0,0.0002177,0,"8.802e-06",0.0001631,0,0.0002177,"gnomAD_EAS","6.7616001615533605e-06",0,0,0,0,0.00020226500055287,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TGGCCGCGCTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3858649","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CITED2",10370,"BI","GRCh38","chr6",139373417,139373417,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.528del","p.Gly177AlafsTer42","p.G177Afs*42","ENST00000367651","2024-02-02",45,32,13,46,null,null,"CITED2,frameshift_variant,p.G177Afs*42,ENST00000367651,NM_006079.5,c.528del,HIGH,,,,-1;CITED2,frameshift_variant,p.G177Afs*42,ENST00000536159,NM_001168388.2,c.528del,HIGH,,,,-1;CITED2,frameshift_variant,p.G182Afs*42,ENST00000537332,NM_001168389.2,c.543del,HIGH,YES,,,-1;CITED2,intron_variant,,ENST00000618718,,c.476+52del,MODIFIER,,,,-1;AL592429.2,intron_variant,,ENST00000650173,,n.510-55660del,MODIFIER,YES,,,1","-","ENSG00000164442","ENST00000367651","Transcript","frameshift_variant","frameshift_variant","772/2382","528/813","176/270","P/X","ccC/cc",null,null,-1,"CITED2","HGNC","HGNC:1987","protein_coding",null,"CCDS5195.1","ENSP00000356623","Q99967.183","D9ZGF1.82","UPI00000373B9","Q99967-1","NM_006079.5","NM_006079.5","P2",{"$nulls":3},"2024-02-02",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR17045;PANTHER:PTHR17045:SF7;Pfam:PF04487",{"$nulls":41},"HIGH",null,"deletion",1,null,null,1,"GCCGCCGGGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["PHACTR2",9749,"BI","GRCh38","chr6",143774142,143774142,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1487del","p.Asn496ThrfsTer22","p.N496Tfs*22","ENST00000427704","2024-08-13",81,56,24,83,null,null,"PHACTR2,frameshift_variant,p.N496Tfs*22,ENST00000427704,NM_014721.3,c.1487del,HIGH,,,,1;PHACTR2,frameshift_variant,p.N427Tfs*22,ENST00000367582,NM_001100165.2,c.1280del,HIGH,,,,1;PHACTR2,frameshift_variant,p.N507Tfs*22,ENST00000440869,NM_001100164.2,c.1520del,HIGH,YES,,,1;PHACTR2,frameshift_variant,p.N484Tfs*22,ENST00000367584,,c.1451del,HIGH,,,,1;PHACTR2,frameshift_variant,p.N416Tfs*22,ENST00000305766,NM_001100166.2,c.1247del,HIGH,,,,1;PHACTR2,upstream_gene_variant,,ENST00000536245,,,MODIFIER,,,,1","-","ENSG00000112419","ENST00000427704","Transcript","frameshift_variant","frameshift_variant","1613/9531","1483/1905","495/634","K/X","Aaa/aa",null,null,1,"PHACTR2","HGNC","HGNC:20956","protein_coding",null,"CCDS47492.1","ENSP00000391763","O75167.140",null,"UPI0000419279","O75167-1","NM_014721.3",null,"P4",{"$nulls":3},"2024-08-13",null,"PROSITE_profiles:PS51073;PANTHER:PTHR12751;PANTHER:PTHR12751:SF5;SMART:SM00707;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",null,"deletion",1,4,null,null,"GAGGACAAAAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["UTRN",7402,"BI","GRCh38","chr6",144522037,144522039,"+","In_Frame_Del","DEL","CTT","CTT","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5603_5605del","p.Leu1868del","p.L1868del","ENST00000367545","39/74",138,108,30,148,null,null,"UTRN,inframe_deletion,p.L1868del,ENST00000367545,NM_007124.2,c.5603_5605del,MODERATE,YES,,,1","-","ENSG00000152818","ENST00000367545","Transcript","inframe_deletion","inframe_deletion","5599-5601/12339","5599-5601/10302","1867/3433","L/-","CTT/-",null,null,1,"UTRN","HGNC","HGNC:12635","protein_coding","YES","CCDS34547.1","ENSP00000356515","P46939.204",null,"UPI00003673F1","P46939-1","NM_007124.2",null,"P1",{"$nulls":3},"39/74",null,"PIRSF:PIRSF002341;PANTHER:PTHR12268;PANTHER:PTHR12268:SF15",{"$nulls":41},"MODERATE",1,"deletion",5,4,null,null,"TCATCACTTCTTCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["LATS1",9113,"BI","GRCh38","chr6",149683642,149683642,"+","Missense_Mutation","SNP","C","C","T","rs147658805",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1447G>A","p.Ala483Thr","p.A483T","ENST00000253339","2024-03-07",174,141,33,179,null,null,"LATS1,missense_variant,p.A483T,ENST00000543571,NM_001350392.2&NM_004690.4&NM_001350340.2&NM_001350339.2,c.1447G>A,MODERATE,YES,tolerated_low_confidence(0.18),possibly_damaging(0.717),-1;LATS1,missense_variant,p.A483T,ENST00000253339,,c.1447G>A,MODERATE,,tolerated_low_confidence(0.18),possibly_damaging(0.717),-1;LATS1,missense_variant,p.A483T,ENST00000392273,NM_001270519.1,c.1447G>A,MODERATE,,tolerated(0.14),probably_damaging(0.998),-1;LATS1,downstream_gene_variant,,ENST00000458696,,,MODIFIER,,,,-1;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,,n.1284G>A,MODIFIER,,,,-1;LATS1,3_prime_UTR_variant,,ENST00000441107,,c.*1134G>A,MODIFIER,,,,-1;LATS1,downstream_gene_variant,,ENST00000542720,,,MODIFIER,,,,-1","T","ENSG00000131023","ENST00000253339","Transcript","missense_variant","missense_variant","1675/4256","1447/3393","483/1130","A/T","Gct/Act","rs147658805",null,-1,"LATS1","HGNC","HGNC:6514","protein_coding",null,"CCDS34551.1","ENSP00000253339","O95835.193",null,"UPI0000073DC2","O95835-1",null,null,"P1",null,"tolerated_low_confidence(0.18)","possibly_damaging(0.717)","2024-03-07",null,"Low_complexity_(Seg):seg;PANTHER:PTHR24356:SF138;PANTHER:PTHR24356",0.0002,0.0008,0,0,0,0,0.0004539,0,"1.988e-05",3.076E-4,0,0,0,0,0,0,0,0.0008,"AFR",0.000101454003015533,3.65159008651971E-4,0,0,0,0,0,0,0,0,0,3.65159008651971E-4,"afr",{"$nulls":9},"MODERATE",null,"SNV",1,null,null,1,"TGTAGCAGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3859025;COSM3859026;COSM3859027","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AKAP12",9590,"BI","GRCh38","chr6",151351230,151351230,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2844del","p.Thr949ArgfsTer23","p.T949Rfs*23","ENST00000253332","2024-03-04",112,84,28,118,null,null,"AKAP12,frameshift_variant,p.T949Rfs*23,ENST00000402676,NM_005100.4,c.2844del,HIGH,YES,,,1;AKAP12,frameshift_variant,p.T949Rfs*23,ENST00000253332,,c.2844del,HIGH,,,,1;AKAP12,frameshift_variant,p.T851Rfs*23,ENST00000354675,NM_144497.2,c.2550del,HIGH,,,,1;AKAP12,frameshift_variant,p.T844Rfs*23,ENST00000359755,NM_001370346.1,c.2529del,HIGH,,,,1;AKAP12,downstream_gene_variant,,ENST00000490177,,,MODIFIER,,,,1","-","ENSG00000131016","ENST00000253332","Transcript","frameshift_variant","frameshift_variant","3028/6597","2839/5349","947/1782","P/X","Ccc/cc",null,null,1,"AKAP12","HGNC","HGNC:370","protein_coding",null,"CCDS5229.1","ENSP00000253332","Q02952.183",null,"UPI000013CDC7","Q02952-1",null,null,"P3",{"$nulls":3},"2024-03-04",null,"PANTHER:PTHR23209;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",null,"deletion",1,5,null,null,"GAAGAACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4660749","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SYNE1",23345,"BI","GRCh38","chr6",152416850,152416850,"+","Missense_Mutation","SNP","G","G","A","rs769949513",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5587C>T","p.Arg1863Trp","p.R1863W","ENST00000367255","41/146",94,65,28,116,null,null,"SYNE1,missense_variant,p.R1863W,ENST00000367255,NM_182961.4,c.5587C>T,MODERATE,YES,deleterious(0),probably_damaging(0.987),-1;SYNE1,missense_variant,p.R1870W,ENST00000423061,NM_033071.3,c.5608C>T,MODERATE,,deleterious(0),probably_damaging(0.964),-1;SYNE1,missense_variant,p.R1883W,ENST00000341594,,c.5647C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,,n.5805C>T,MODIFIER,,,,-1","A","ENSG00000131018","ENST00000367255","Transcript","missense_variant","missense_variant","6152/27708","5587/26394","1863/8797","R/W","Cgg/Tgg","rs769949513;COSV54992747",null,-1,"SYNE1","HGNC","HGNC:17089","protein_coding","YES","CCDS5236.2","ENSP00000356224","Q8NF91.188",null,"UPI000204AF58","Q8NF91-1","NM_182961.4","NM_182961.4","P3",null,"deleterious(0)","probably_damaging(0.987)","41/146",null,"PANTHER:PTHR14514;PANTHER:PTHR14514:SF3;Superfamily:SSF46966;CDD:cd00176",{"$nulls":8},"3.983e-06","6.155e-05",0,0,0,0,0,0,0,"6.155e-05","gnomAD_AFR","6.761690201528836e-06","2.4323799152625725e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTGCCGCCTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1441591;COSM1441592;COSM1441593;COSM3859610;COSM3859611","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RNASET2",8635,"BI","GRCh38","chr6",166938942,166938944,"+","In_Frame_Del","DEL","CTT","CTT","-","rs781239107",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.397_399del","p.Lys133del","p.K133del","ENST00000476238","2024-07-10",128,104,24,122,null,null,"RNASET2,inframe_deletion,p.K133del,ENST00000508775,NM_003730.6,c.397_399del,MODERATE,,,,-1;RNASET2,inframe_deletion,p.K95del,ENST00000366855,,c.283_285del,MODERATE,,,,-1;RNASET2,inframe_deletion,p.K183del,ENST00000620173,,c.547_549del,MODERATE,YES,,,-1;RNASET2,inframe_deletion,p.R117del,ENST00000611959,,c.351_353del,MODERATE,,,,-1;RNASET2,inframe_deletion,p.K133del,ENST00000478180,,c.397_399del,MODERATE,,,,-1;RNASET2,inframe_deletion,p.K133del,ENST00000476238,,c.397_399del,MODERATE,,,,-1;AL159163.1,inframe_deletion,p.K114del,ENST00000507747,,c.339_341del,MODERATE,YES,,,-1;RNASET2,non_coding_transcript_exon_variant,,ENST00000496851,,n.297_299del,MODIFIER,,,,-1;RNASET2,non_coding_transcript_exon_variant,,ENST00000467705,,n.195_197del,MODIFIER,,,,-1;RNASET2,non_coding_transcript_exon_variant,,ENST00000509073,,n.286_288del,MODIFIER,,,,-1;RNASET2,3_prime_UTR_variant,,ENST00000421787,,c.*751_*753del,MODIFIER,,,,-1;RNASET2,3_prime_UTR_variant,,ENST00000028008,,c.*185_*187del,MODIFIER,,,,-1;RNASET2,non_coding_transcript_exon_variant,,ENST00000358165,,n.379_381del,MODIFIER,,,,-1;RNASET2,non_coding_transcript_exon_variant,,ENST00000499370,,n.1343_1345del,MODIFIER,,,,-1","-","ENSG00000026297","ENST00000476238","Transcript","inframe_deletion","inframe_deletion","465-467/887","397-399/771","133/256","K/-","AAG/-","rs781239107",null,-1,"RNASET2","HGNC","HGNC:21686","protein_coding",null,"CCDS5295.1","ENSP00000422846","O00584.169",null,"UPI0000001C84","O00584-1",{"$nulls":6},"2024-07-10",null,"PDB-ENSP_mappings:3t0o.A;CDD:cd01061;PANTHER:PTHR11240;PANTHER:PTHR11240:SF22;Pfam:PF00445;Gene3D:3.90.730.10;Superfamily:SSF55895",{"$nulls":6},0.0009381,0.0001212,"1.609e-05",0,0,0,0,0,"3.588e-05",0,0,0.0009381,"AA","2.704899998207111e-05","2.4322600438608788e-05",0,0,0,0,0,0,"3.0867999157635495e-05",0.000494559993967413,0,"3.0867999157635495e-05","nfe",{"$nulls":9},"MODERATE",null,"deletion",5,null,null,1,"AAAGTACTTCTTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["SMOC2",64094,"BI","GRCh38","chr6",168598944,168598944,"+","Missense_Mutation","SNP","C","C","T","rs367887452",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.764C>T","p.Thr255Met","p.T255M","ENST00000356284","2024-08-13",28,22,6,33,null,null,"SMOC2,missense_variant,p.T266M,ENST00000354536,NM_022138.3,c.797C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;SMOC2,missense_variant,p.T255M,ENST00000356284,NM_001166412.2,c.764C>T,MODERATE,,deleterious(0),probably_damaging(0.958),1","T","ENSG00000112562","ENST00000356284","Transcript","missense_variant","missense_variant","951/3082","764/1341","255/446","T/M","aCg/aTg","rs367887452;COSV62436469",null,1,"SMOC2","HGNC","HGNC:20323","protein_coding",null,"CCDS55076.1","ENSP00000348630","Q9H3U7.167",null,"UPI00000421E5","Q9H3U7-1","NM_001166412.2","NM_001166412.2","P1",null,"deleterious(0)","probably_damaging(0.958)","2024-08-13",null,"PROSITE_profiles:PS51162;CDD:cd00191;PANTHER:PTHR12352:SF21;PANTHER:PTHR12352;PROSITE_patterns:PS00484;Pfam:PF00086;Gene3D:4.10.800.10;SMART:SM00211;Superfamily:SSF57610",{"$nulls":8},"7.995e-06",0,0,0,"5.442e-05",0,"8.867e-06",0,0,"5.442e-05","gnomAD_EAS","6.765720172552392e-06",0,0,0,0,0,0,0,"1.544070073578041e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CTCCACGGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2855116","N","Unknown",{"$nulls":3},"muse;varscan2"]
["AIMP2",7965,"BI","GRCh38","chr7",6023536,6023536,"+","Missense_Mutation","SNP","G","G","A","rs770771902",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.808G>A","p.Ala270Thr","p.A270T","ENST00000223029","2024-04-04",45,31,14,44,null,null,"AIMP2,missense_variant,p.A270T,ENST00000223029,NM_001326606.1&NM_006303.4,c.808G>A,MODERATE,YES,tolerated(0.1),benign(0.057),1;AIMP2,missense_variant,p.A192T,ENST00000400479,NM_001326611.2&NM_001326609.1&NM_001326610.1&NM_001362785.1&NM_001362787.1,c.574G>A,MODERATE,,tolerated(0.07),benign(0.057),1;AIMP2,missense_variant,p.A201T,ENST00000395236,NM_001326607.1,c.601G>A,MODERATE,,tolerated(0.06),benign(0.057),1;EIF2AK1,3_prime_UTR_variant,,ENST00000199389,NM_001134335.1&NM_014413.4,c.*1137C>T,MODIFIER,YES,,,-1;EIF2AK1,3_prime_UTR_variant,,ENST00000422786,,c.*205C>T,MODIFIER,,,,-1;EIF2AK1,downstream_gene_variant,,ENST00000490523,,,MODIFIER,,,,-1","A","ENSG00000106305","ENST00000223029","Transcript","missense_variant","missense_variant","900/1198","808/963","270/320","A/T","Gct/Act","rs770771902;COSV52240490",null,1,"AIMP2","HGNC","HGNC:20609","protein_coding","YES","CCDS5344.1","ENSP00000223029","Q13155.178","A0A024QZY1.39","UPI000012ED59","Q13155-1","NM_001326606.1;NM_006303.4","NM_006303.4","P1",null,"tolerated(0.1)","benign(0.057)","2024-04-04",null,"PDB-ENSP_mappings:5a1n.B;PDB-ENSP_mappings:5a34.B;PDB-ENSP_mappings:5a34.D;PDB-ENSP_mappings:5a34.F;PDB-ENSP_mappings:5a34.H;PDB-ENSP_mappings:5a5h.B;PDB-ENSP_mappings:5a5h.D;PDB-ENSP_mappings:5a5h.F;PDB-ENSP_mappings:5a5h.H;PDB-ENSP_mappings:5y6l.D;PDB-ENSP_mappings:6iy6.C;PDB-ENSP_mappings:6iy6.D;PDB-ENSP_mappings:6iy6.I;PDB-ENSP_mappings:6iy6.J;CDD:cd03200;PANTHER:PTHR13438;Gene3D:1.20.1050.130;Pfam:PF00043;Superfamily:SSF47616",{"$nulls":8},"3.614e-05",0,"2.892e-05",0,0.0003806,0,0,0,"3.266e-05",0.0003806,"gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGCTCGCTGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3881953","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GLI3",2737,"BI","GRCh38","chr7",42148279,42148279,"+","Missense_Mutation","SNP","C","C","T","rs750890677",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.314G>A","p.Arg105His","p.R105H","ENST00000395925","2024-03-15",31,26,5,34,null,null,"GLI3,missense_variant,p.R105H,ENST00000395925,NM_000168.6,c.314G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.997),-1;GLI3,missense_variant,p.R105H,ENST00000678429,,c.314G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),-1;GLI3,missense_variant,p.R105H,ENST00000677605,,c.314G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),-1;GLI3,missense_variant,p.R46H,ENST00000677288,,c.137G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.999),-1;GLI3,missense_variant,p.R46H,ENST00000479210,,c.137G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),-1;GLI3,missense_variant,p.R46H,ENST00000647255,,c.137G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.961),-1;GLI3,missense_variant,p.R46H,ENST00000642432,,c.137G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.944),-1;GLI3,missense_variant,p.R46H,ENST00000643264,,c.137G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.961),-1","T","ENSG00000106571","ENST00000395925","Transcript","missense_variant","missense_variant","595/8405","314/4743","105/1580","R/H","cGc/cAc","rs750890677;COSV67889940",null,-1,"GLI3","HGNC","HGNC:4319","protein_coding","YES","CCDS5465.1","ENSP00000379258","P10071.212",null,"UPI000020EE4C",null,"NM_000168.6","NM_000168.6","P2",null,"deleterious_low_confidence(0)","probably_damaging(0.997)","2024-03-15",null,"PANTHER:PTHR45718;PANTHER:PTHR45718:SF5",{"$nulls":8},"2.016e-05",0,0,0,0,0,0,0,1.649E-4,1.649E-4,"gnomAD_SAS","6.764069894416025e-06",0,0,0,0,0,0,0,"1.5436900866916403e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"TCCCGCGGTAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3881034","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PGAM2",5224,"BI","GRCh38","chr7",44062769,44062769,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.757A>G","p.Lys253Glu","p.K253E","ENST00000297283","2024-03-03",53,42,11,51,null,null,"PGAM2,missense_variant,p.K253E,ENST00000297283,NM_000290.4,c.757A>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.699),-1;DBNL,3_prime_UTR_variant,,ENST00000448521,NM_001014436.3,c.*1853T>C,MODIFIER,,,,1;DBNL,3_prime_UTR_variant,,ENST00000432854,,c.*1853T>C,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000440166,NM_001284313.2,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000452661,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000452943,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000456905,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000468694,NM_001122956.2&NM_001362723.2,,MODIFIER,YES,,,1;DBNL,downstream_gene_variant,,ENST00000490734,NM_001284315.1,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000494774,NM_014063.7,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000497184,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000411855,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000423561,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000429716,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000439815,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000441840,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000441904,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000449997,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000458579,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000464762,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000485932,,,MODIFIER,,,,1;DBNL,downstream_gene_variant,,ENST00000498733,,,MODIFIER,,,,1;AC017116.1,upstream_gene_variant,,ENST00000425727,,,MODIFIER,,,,1;AC017116.1,upstream_gene_variant,,ENST00000445938,,,MODIFIER,YES,,,1","C","ENSG00000164708","ENST00000297283","Transcript","missense_variant","missense_variant","795/837","757/762","253/253","K/E","Aag/Gag","COSV51978606",null,-1,"PGAM2","HGNC","HGNC:8889","protein_coding","YES","CCDS34624.1","ENSP00000297283","P15259.199",null,"UPI000013E3E8",null,"NM_000290.4","NM_000290.4","P1",null,"deleterious(0.01)","possibly_damaging(0.699)","2024-03-03",null,"PANTHER:PTHR11931:SF8;PANTHER:PTHR11931",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TCACTTGGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3881174","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLM",27434,"BI","GRCh38","chr7",44080815,44080815,"+","Frame_Shift_Del","DEL","G","G","-","rs745933237",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.290del","p.Pro97GlnfsTer6","p.P97Qfs*6","ENST00000242248","2024-02-11",122,91,31,144,null,null,"POLM,frameshift_variant,p.P97Qfs*6,ENST00000242248,NM_013284.4&NM_001362683.2,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000335195,NM_001284331.1,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000395831,NM_001284330.2,c.290del,HIGH,YES,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000452049,,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000414235,,c.290del,HIGH,,,,-1;POLM,upstream_gene_variant,,ENST00000492971,,,MODIFIER,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000458246,,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000430942,,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000435068,,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000434229,,c.290del,HIGH,,,,-1;POLM,frameshift_variant,p.P97Qfs*6,ENST00000445616,,c.290del,HIGH,,,,-1;POLM,non_coding_transcript_exon_variant,,ENST00000492605,,n.330del,MODIFIER,,,,-1;POLM,non_coding_transcript_exon_variant,,ENST00000492312,,n.336del,MODIFIER,,,,-1;POLM,non_coding_transcript_exon_variant,,ENST00000492321,,n.363del,MODIFIER,,,,-1;POLM,non_coding_transcript_exon_variant,,ENST00000497300,,n.329del,MODIFIER,,,,-1;POLM,non_coding_transcript_exon_variant,,ENST00000483644,,n.334del,MODIFIER,,,,-1;POLM,upstream_gene_variant,,ENST00000418926,,,MODIFIER,,,,-1","-","ENSG00000122678","ENST00000242248","Transcript","frameshift_variant","frameshift_variant","382/2806","290/1485","97/494","P/X","cCa/ca","rs745933237",null,-1,"POLM","HGNC","HGNC:9185","protein_coding",null,"CCDS34625.1","ENSP00000242248","Q9NP87.164",null,"UPI000004129C","Q9NP87-1","NM_013284.4;NM_001362683.2","NM_013284.4","P1",{"$nulls":3},"2024-02-11",null,"PDB-ENSP_mappings:2dun.A;PDB-ENSP_mappings:2htf.A;Gene3D:3.40.50.10190;PIRSF:PIRSF000817;PIRSF:PIRSF501176;PROSITE_profiles:PS50172;PANTHER:PTHR11276;PANTHER:PTHR11276:SF24;Superfamily:SSF52113;CDD:cd18442",{"$nulls":8},"1.209e-05",0,"5.846e-05",0,0,0,"8.949e-06",0,0,"5.846e-05","gnomAD_AMR","1.3521899745683186e-05","2.4324999685632065e-05",0,0,0,0,0,0,"1.5433099179062992e-05",0,0,{"$nulls":11},"HIGH",null,"deletion",1,{"$nulls":3},"AGAGCTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1450885","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AEBP1",165,"BI","GRCh38","chr7",44104735,44104735,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.70C>T","p.Arg24Cys","p.R24C","ENST00000223357","2024-01-21",30,15,14,29,null,null,"AEBP1,missense_variant,p.R24C,ENST00000223357,NM_001129.5,c.70C>T,MODERATE,YES,tolerated_low_confidence(0.14),benign(0),1;AEBP1,upstream_gene_variant,,ENST00000449162,,,MODIFIER,,,,1;AEBP1,upstream_gene_variant,,ENST00000455443,,,MODIFIER,,,,1;AEBP1,upstream_gene_variant,,ENST00000454218,,,MODIFIER,,,,1;AEBP1,upstream_gene_variant,,ENST00000453052,,,MODIFIER,,,,1","T","ENSG00000106624","ENST00000223357","Transcript","missense_variant","missense_variant","391/4097","70/3477","24/1158","R/C","Cgc/Tgc","COSV56258774",null,1,"AEBP1","HGNC","HGNC:303","protein_coding","YES","CCDS5476.1","ENSP00000223357","Q8IUX7.155",null,"UPI00000746E2","Q8IUX7-1","NM_001129.5","NM_001129.5","P1",null,"tolerated_low_confidence(0.14)","benign(0)","2024-01-21",null,"PANTHER:PTHR11532;PANTHER:PTHR11532:SF48;Cleavage_site_(Signalp):SignalP-noTM;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GAGGGCGCCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3881185","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ABCA13",154664,"BI","GRCh38","chr7",48278346,48278347,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.7157dup","p.Thr2387HisfsTer12","p.T2387Hfs*12","ENST00000435803","18/62",19,14,5,31,null,null,"ABCA13,frameshift_variant,p.T2387Hfs*12,ENST00000435803,NM_152701.5,c.7157dup,HIGH,YES,,,1;ABCA13,upstream_gene_variant,,ENST00000544596,,,MODIFIER,,,,1;ABCA13,upstream_gene_variant,,ENST00000611776,,,MODIFIER,,,,1","T","ENSG00000179869","ENST00000435803","Transcript","frameshift_variant","frameshift_variant","7178-7179/17188","7152-7153/15177","2384-2385/5058","-/X","-/T",null,null,1,"ABCA13","HGNC","HGNC:14638","protein_coding","YES","CCDS47584.1","ENSP00000411096",null,"A0A0A0MT16.43","UPI00043788D8",null,"NM_152701.5","NM_152701.5","P1",{"$nulls":3},"18/62",null,"PANTHER:PTHR19229;PANTHER:PTHR19229:SF113",{"$nulls":41},"HIGH",1,"insertion",1,5,null,null,"ATAGACTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["COBL",23242,"BI","GRCh38","chr7",51219864,51219865,"+","Frame_Shift_Ins","INS","-","-","G","rs778516787",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.121dup","p.His41ProfsTer31","p.H41Pfs*31","ENST00000265136","2024-02-13",74,46,28,83,null,null,"COBL,frameshift_variant,p.H41Pfs*31,ENST00000395542,NM_001287436.2&NM_001346441.2,c.121dup,HIGH,YES,,,-1;COBL,frameshift_variant,p.H41Pfs*31,ENST00000265136,NM_001346443.2&NM_001346442.2&NM_015198.5,c.121dup,HIGH,,,,-1;COBL,frameshift_variant,p.H41Pfs*31,ENST00000441453,NM_001287438.3,c.121dup,HIGH,,,,-1;COBL,frameshift_variant,p.H41Pfs*31,ENST00000395540,NM_001346444.1,c.121dup,HIGH,,,,-1;COBL,frameshift_variant,p.H41Pfs*31,ENST00000632460,,c.121dup,HIGH,,,,-1;COBL,frameshift_variant,p.H25Pfs*31,ENST00000648294,,c.73dup,HIGH,,,,-1;COBL,frameshift_variant,p.H25Pfs*31,ENST00000449281,,c.73dup,HIGH,,,,-1","G","ENSG00000106078","ENST00000265136","Transcript","frameshift_variant","frameshift_variant","297-298/5301","121-122/3786","41/1261","H/PX","cac/cCac","rs778516787",null,-1,"COBL","HGNC","HGNC:22199","protein_coding",null,"CCDS34637.1","ENSP00000265136","O75128.138",null,"UPI00001A9480","O75128-1","NM_001346443.2;NM_001346442.2;NM_015198.5","NM_015198.5","P1",{"$nulls":3},"2024-02-13",null,"PANTHER:PTHR47008;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.999e-05",0,"5.785e-05",0,0,0,"2.66e-05",0,0,"5.785e-05","gnomAD_AMR","6.767820195818786e-06",0,0,0,0,0,0,0,0,0,0.000208943005418404,{"$nulls":11},"HIGH",null,"insertion",1,{"$nulls":3},"CATCGTGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1451394;COSM4673431;COSM4673432;COSM5830703","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["AUTS2",26053,"BI","GRCh38","chr7",70790670,70790670,"+","Missense_Mutation","SNP","C","C","T","rs769208197",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3454C>T","p.Arg1152Trp","p.R1152W","ENST00000342771","19/19",44,35,9,53,null,null,"AUTS2,missense_variant,p.R1152W,ENST00000342771,NM_015570.4,c.3454C>T,MODERATE,YES,deleterious(0),probably_damaging(0.989),1;AUTS2,missense_variant,p.R1151W,ENST00000644939,,c.3451C>T,MODERATE,,deleterious(0),probably_damaging(0.961),1;AUTS2,missense_variant,p.R1128W,ENST00000406775,NM_001127231.3,c.3382C>T,MODERATE,,deleterious(0),probably_damaging(0.989),1;AUTS2,missense_variant,p.R694W,ENST00000644506,,c.2080C>T,MODERATE,,deleterious(0),probably_damaging(0.989),1;AUTS2,missense_variant,p.R904W,ENST00000611706,,c.2710C>T,MODERATE,,deleterious(0),probably_damaging(0.989),1;AUTS2,missense_variant,p.R880W,ENST00000615871,,c.2638C>T,MODERATE,,deleterious(0),probably_damaging(0.989),1;AUTS2,missense_variant,p.R679W,ENST00000644359,,c.2035C>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;AUTS2,missense_variant,p.R774W,ENST00000647140,,c.2320C>T,MODERATE,,deleterious(0),probably_damaging(0.924),1;AUTS2,downstream_gene_variant,,ENST00000449547,,,MODIFIER,,,,1;AUTS2,downstream_gene_variant,,ENST00000418686,,,MODIFIER,,,,1;AUTS2,downstream_gene_variant,,ENST00000439256,,,MODIFIER,,,,1;AUTS2,downstream_gene_variant,,ENST00000464768,,,MODIFIER,,,,1;AUTS2,downstream_gene_variant,,ENST00000498384,,,MODIFIER,,,,1;AUTS2,downstream_gene_variant,,ENST00000646193,,,MODIFIER,,,,1","T","ENSG00000158321","ENST00000342771","Transcript","missense_variant","missense_variant","4633/7469","3454/3780","1152/1259","R/W","Cgg/Tgg","rs769208197;COSV61410361",null,1,"AUTS2","HGNC","HGNC:14262","protein_coding","YES","CCDS5539.1","ENSP00000344087","Q8WXX7.153",null,"UPI0000126665","Q8WXX7-1","NM_015570.4","NM_015570.4","P4",null,"deleterious(0)","probably_damaging(0.989)","19/19",null,"PANTHER:PTHR14429;PANTHER:PTHR14429:SF5",{"$nulls":8},"4.069e-06",0,0,0,0,0,"9.154e-06",0,0,"9.154e-06","gnomAD_NFE","6.763149940525182e-06",0,0,0,0,0,0,0,"1.543829966976773e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"ACGAGCGGGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3882153","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GTF2IRD1",9569,"BI","GRCh38","chr7",74558972,74558972,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2264C>A","p.Pro755His","p.P755H","ENST00000265755","21/27",147,140,7,149,null,null,"GTF2IRD1,missense_variant,p.P740H,ENST00000476977,,c.2219C>A,MODERATE,,deleterious(0),probably_damaging(1),1;GTF2IRD1,missense_variant,p.P755H,ENST00000265755,NM_016328.3,c.2264C>A,MODERATE,,deleterious(0),probably_damaging(1),1;GTF2IRD1,missense_variant,p.P772H,ENST00000455841,NM_001199207.2,c.2315C>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;GTF2IRD1,missense_variant,p.P740H,ENST00000424337,NM_005685.4,c.2219C>A,MODERATE,,deleterious(0),probably_damaging(1),1;GTF2IRD1,missense_variant,p.P118H,ENST00000470715,,c.353C>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;GTF2IRD1,non_coding_transcript_exon_variant,,ENST00000489094,,n.2168C>A,MODIFIER,,,,1","A","ENSG00000006704","ENST00000265755","Transcript","missense_variant","missense_variant","2657/3430","2264/2880","755/959","P/H","cCc/cAc","COSV99734680",null,1,"GTF2IRD1","HGNC","HGNC:4661","protein_coding",null,"CCDS5571.1","ENSP00000265755","Q9UHL9.185",null,"UPI000012AE30","Q9UHL9-1","NM_016328.3",null,"A2",null,"deleterious(0)","probably_damaging(1)","21/27",null,"PDB-ENSP_mappings:2dzr.A;PROSITE_profiles:PS51139;PANTHER:PTHR46304;PANTHER:PTHR46304:SF3;Gene3D:3.90.1460.10;PIRSF:PIRSF016441;Pfam:PF02946;Superfamily:SSF117773",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AAAGCCCTGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["SSC4D",136853,"BI","GRCh38","chr7",76390192,76390192,"+","Missense_Mutation","SNP","C","C","T","rs369525573",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1595G>A","p.Arg532Gln","p.R532Q","ENST00000275560","2024-11-11",99,76,23,70,null,null,"SSC4D,missense_variant,p.R532Q,ENST00000275560,NM_080744.2,c.1595G>A,MODERATE,YES,tolerated(0.16),benign(0.015),-1;SSC4D,non_coding_transcript_exon_variant,,ENST00000492979,,n.366G>A,MODIFIER,,,,-1","T","ENSG00000146700","ENST00000275560","Transcript","missense_variant","missense_variant","1945/2800","1595/1728","532/575","R/Q","cGa/cAa","rs369525573",null,-1,"SSC4D","HGNC","HGNC:14461","protein_coding","YES","CCDS5585.1","ENSP00000275560","Q8WTU2.141",null,"UPI000006D197","Q8WTU2-1","NM_080744.2","NM_080744.2","P1",null,"tolerated(0.16)","benign(0.015)","2024-11-11",null,"Gene3D:3.10.250.10;Pfam:PF00530;PROSITE_profiles:PS50287;PANTHER:PTHR19331;PANTHER:PTHR19331:SF439;SMART:SM00202;Superfamily:SSF56487",{"$nulls":6},0,0.0003488,"5.969e-05",0,"2.891e-05",0,0,0,1.144E-4,0.0001631,0,0.0003488,"EA",1.14882001071237E-4,"7.290049688890576e-05",0,"6.631299766013399e-05",0,0,0,0,2.00562004465609E-4,0,0,2.00562004465609E-4,"nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"GGCCTCGGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3028803","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DTX2",113878,"BI","GRCh38","chr7",76492245,76492245,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1001C>A","p.Ala334Glu","p.A334E","ENST00000324432","2024-06-12",54,39,15,51,null,null,"DTX2,missense_variant,p.A334E,ENST00000324432,NM_020892.2,c.1001C>A,MODERATE,YES,deleterious(0),possibly_damaging(0.644),1;DTX2,missense_variant,p.A334E,ENST00000430490,NM_001102594.1,c.1001C>A,MODERATE,,deleterious(0),possibly_damaging(0.644),1;DTX2,missense_variant,p.A334E,ENST00000413936,NM_001102595.1,c.1001C>A,MODERATE,,deleterious(0),possibly_damaging(0.644),1;DTX2,missense_variant,p.A243E,ENST00000446600,,c.728C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.644),1;DTX2,missense_variant,p.A334E,ENST00000446820,NM_001102596.2,c.1001C>A,MODERATE,,deleterious(0),probably_damaging(0.942),1;DTX2,missense_variant,p.A32E,ENST00000435251,,c.95C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;DTX2,non_coding_transcript_exon_variant,,ENST00000467729,,n.249C>A,MODIFIER,,,,1","A","ENSG00000091073","ENST00000324432","Transcript","missense_variant","missense_variant","1511/2769","1001/1869","334/622","A/E","gCg/gAg","COSV56861703",null,1,"DTX2","HGNC","HGNC:15973","protein_coding","YES","CCDS5587.1","ENSP00000322885","Q86UW9.156",null,"UPI00001413A2","Q86UW9-1","NM_020892.2",null,"P4",null,"deleterious(0)","possibly_damaging(0.644)","2024-06-12",null,"PANTHER:PTHR12622;PANTHER:PTHR12622:SF21",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCAGGCGCTCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3882463","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEMA3D",223117,"BI","GRCh38","chr7",85018274,85018274,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1523A>C","p.Asn508Thr","p.N508T","ENST00000284136","13/17",54,36,18,56,null,null,"SEMA3D,missense_variant,p.N508T,ENST00000284136,NM_152754.2,c.1523A>C,MODERATE,YES,tolerated(0.19),benign(0),-1;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,,n.649A>C,MODIFIER,,,,-1","G","ENSG00000153993","ENST00000284136","Transcript","missense_variant","missense_variant","1567/6265","1523/2334","508/777","N/T","aAc/aCc","COSV52396295",null,-1,"SEMA3D","HGNC","HGNC:10726","protein_coding","YES","CCDS34676.1","ENSP00000284136","O95025.164",null,"UPI0000135A66",null,"NM_152754.2",null,"P1",null,"tolerated(0.19)","benign(0)","13/17",null,"PROSITE_profiles:PS51004;CDD:cd11252;PANTHER:PTHR11036:SF36;PANTHER:PTHR11036;Pfam:PF01403;Gene3D:2.130.10.10;SMART:SM00630;Superfamily:SSF101912",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CCATGTTCAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3882951","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RUNDC3B",154661,"BI","GRCh38","chr7",87777802,87777802,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.854A>G","p.Tyr285Cys","p.Y285C","ENST00000338056","2024-09-12",34,27,7,48,null,null,"RUNDC3B,missense_variant,p.Y285C,ENST00000338056,NM_138290.3,c.854A>G,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;RUNDC3B,missense_variant,p.Y268C,ENST00000394654,NM_001134405.2,c.803A>G,MODERATE,,deleterious(0),probably_damaging(0.996),1;RUNDC3B,missense_variant,p.Y268C,ENST00000493037,NM_001134406.2,c.803A>G,MODERATE,,deleterious(0),probably_damaging(0.995),1;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,,n.570A>G,MODIFIER,,,,1","G","ENSG00000105784","ENST00000338056","Transcript","missense_variant","missense_variant","1265/4099","854/1422","285/473","Y/C","tAc/tGc","COSV56694191",null,1,"RUNDC3B","HGNC","HGNC:30286","protein_coding","YES","CCDS5609.1","ENSP00000337732","Q96NL0.117",null,"UPI0000071425","Q96NL0-1","NM_138290.3",{"$nulls":3},"deleterious(0)","probably_damaging(0.996)","2024-09-12",null,"PANTHER:PTHR46251;PANTHER:PTHR46251:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"GGGTTACCTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3883080","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RBM48",84060,"BI","GRCh38","chr7",92528910,92528910,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.97C>T","p.Pro33Ser","p.P33S","ENST00000265732","2024-01-05",38,29,9,41,null,null,"RBM48,missense_variant,p.P33S,ENST00000265732,NM_001363367.1&NM_001363366.1&NM_032120.4,c.97C>T,MODERATE,,tolerated(0.1),benign(0.241),1;RBM48,missense_variant,p.P33S,ENST00000481551,,c.97C>T,MODERATE,YES,tolerated(0.12),possibly_damaging(0.655),1;RBM48,5_prime_UTR_variant,,ENST00000496410,,c.-337C>T,MODIFIER,,,,1;PEX1,upstream_gene_variant,,ENST00000248633,NM_000466.3,,MODIFIER,YES,,,-1;PEX1,upstream_gene_variant,,ENST00000428214,NM_001282677.2,,MODIFIER,,,,-1;PEX1,upstream_gene_variant,,ENST00000438045,NM_001282678.2,,MODIFIER,,,,-1;PEX1,upstream_gene_variant,,ENST00000484913,,,MODIFIER,,,,-1","T","ENSG00000127993","ENST00000265732","Transcript","missense_variant","missense_variant","116/4667","97/1104","33/367","P/S","Cct/Tct","COSV50401533",null,1,"RBM48","HGNC","HGNC:21785","protein_coding",null,"CCDS43615.1","ENSP00000265732","Q5RL73.134",null,"UPI000020F54D","Q5RL73-1","NM_001363367.1;NM_001363366.1;NM_032120.4","NM_032120.4","P4",null,"tolerated(0.1)","benign(0.241)","2024-01-05",null,"PANTHER:PTHR20957:SF1;PANTHER:PTHR20957",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GACGGCCTCGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3883372","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NPTX2",4885,"BI","GRCh38","chr7",98627186,98627186,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.910G>A","p.Val304Ile","p.V304I","ENST00000265634","2024-04-05",61,39,22,65,null,null,"NPTX2,missense_variant,p.V304I,ENST00000265634,NM_002523.3,c.910G>A,MODERATE,YES,tolerated(0.98),benign(0.015),1;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,,n.776G>A,MODIFIER,,,,1","A","ENSG00000106236","ENST00000265634","Transcript","missense_variant","missense_variant","1087/2713","910/1296","304/431","V/I","Gtc/Atc","COSV55717645",null,1,"NPTX2","HGNC","HGNC:7953","protein_coding","YES","CCDS5657.1","ENSP00000265634","P47972.168",null,"UPI000013040F",null,"NM_002523.3","NM_002523.3","P1",null,"tolerated(0.98)","benign(0.015)","2024-04-05",null,"Gene3D:2.60.120.200;Pfam:PF00354;PROSITE_profiles:PS51828;PANTHER:PTHR19277;PANTHER:PTHR19277:SF1;SMART:SM00159;Superfamily:SSF49899;CDD:cd00152",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGTTTGTCAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3883680","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRRAP",8295,"BI","GRCh38","chr7",98971939,98971939,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.7812G>T","p.Glu2604Asp","p.E2604D","ENST00000359863","52/72",79,47,32,85,null,null,"TRRAP,missense_variant,p.E2604D,ENST00000359863,NM_001244580.1,c.7812G>T,MODERATE,,tolerated(0.18),benign(0),1;TRRAP,missense_variant,p.E2611D,ENST00000456197,NM_001375524.1,c.7833G>T,MODERATE,YES,tolerated(0.18),benign(0.023),1;TRRAP,missense_variant,p.E2586D,ENST00000628380,,c.7758G>T,MODERATE,,tolerated(0.18),benign(0.003),1;TRRAP,missense_variant,p.E2586D,ENST00000355540,NM_003496.3,c.7758G>T,MODERATE,,tolerated(0.18),benign(0.003),1;TRRAP,missense_variant,p.E2586D,ENST00000446306,,c.7758G>T,MODERATE,,tolerated(0.18),benign(0.003),1;TRRAP,missense_variant,p.E82D,ENST00000360902,,c.246G>T,MODERATE,,tolerated(0.34),benign(0),1;TRRAP,upstream_gene_variant,,ENST00000480695,,,MODIFIER,,,,1","T","ENSG00000196367","ENST00000359863","Transcript","missense_variant","missense_variant","8021/12677","7812/11580","2604/3859","E/D","gaG/gaT","COSV62846604",null,1,"TRRAP","HGNC","HGNC:12347","protein_coding",null,"CCDS59066.1","ENSP00000352925","Q9Y4A5.198",null,"UPI00004575B4","Q9Y4A5-1","NM_001244580.1",null,"A2",null,"tolerated(0.18)","benign(0)","52/72",null,"PANTHER:PTHR11139;PANTHER:PTHR11139:SF1;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CGAGAGGTGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3883754;COSM3883755","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC12A9",56996,"BI","GRCh38","chr7",100854737,100854738,"+","Frame_Shift_Ins","INS","-","-","G","rs766637822",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.305dup","p.Gly103ArgfsTer26","p.G103Rfs*26","ENST00000354161","2024-03-14",121,100,21,127,null,null,"SLC12A9,frameshift_variant,p.G103Rfs*26,ENST00000354161,NM_001363494.1&NM_001363493.2&NM_020246.4,c.305dup,HIGH,YES,,,1;SLC12A9,frameshift_variant,p.G103Rfs*26,ENST00000540482,NM_001267812.1,c.305dup,HIGH,,,,1;SLC12A9,frameshift_variant,p.G103Rfs*26,ENST00000434158,,c.305dup,HIGH,,,,1;SLC12A9,intron_variant,,ENST00000415287,NM_001267814.2,c.181+365dup,MODIFIER,,,,1;SLC12A9,intron_variant,,ENST00000416675,,c.181+365dup,MODIFIER,,,,1;SLC12A9,intron_variant,,ENST00000418037,,c.-345+1908dup,MODIFIER,,,,1;SLC12A9,intron_variant,,ENST00000461016,,n.229-5142dup,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000475623,,,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000462106,,n.437dup,MODIFIER,,,,1;SLC12A9,intron_variant,,ENST00000448342,,c.-36+1904dup,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000467972,,,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000475687,,,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000487651,,,MODIFIER,,,,1;SLC12A9,upstream_gene_variant,,ENST00000497958,,,MODIFIER,,,,1;SLC12A9-AS1,upstream_gene_variant,,ENST00000412754,,,MODIFIER,YES,,,-1","G","ENSG00000146828","ENST00000354161","Transcript","frameshift_variant","frameshift_variant","464-465/3315","299-300/2745","100/914","Q/QX","cag/caGg","rs766637822",null,1,"SLC12A9","HGNC","HGNC:17435","protein_coding","YES","CCDS5707.1","ENSP00000275730","Q9BXP2.143",null,"UPI000006CD28","Q9BXP2-1","NM_001363494.1;NM_001363493.2;NM_020246.4","NM_020246.4","P1",{"$nulls":3},"2024-03-14",null,"Gene3D:1.20.1740.10;Pfam:PF00324;PANTHER:PTHR11827;PANTHER:PTHR11827:SF98",{"$nulls":8},"1.194e-05",0,0,0,0,0,"2.641e-05",0,0,"2.641e-05","gnomAD_NFE","6.765169928257819e-06",0,0,0,0,0,0,0,"1.5435400200658478e-05",0,0,{"$nulls":11},"HIGH",1,"insertion",1,6,null,null,"CGTGCAGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CDHR3",222256,"BI","GRCh38","chr7",106032683,106032683,"+","Missense_Mutation","SNP","C","C","T","rs1326346871",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2644C>T","p.His882Tyr","p.H882Y","ENST00000317716","19/19",23,18,5,29,null,null,"CDHR3,missense_variant,p.H882Y,ENST00000317716,NM_152750.5,c.2644C>T,MODERATE,YES,deleterious_low_confidence(0.01),possibly_damaging(0.446),1;CDHR3,missense_variant,p.H794Y,ENST00000478080,NM_001301161.2,c.2380C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.446),1;CDHR3,3_prime_UTR_variant,,ENST00000466045,,c.*311C>T,MODIFIER,,,,1;CDHR3,downstream_gene_variant,,ENST00000470188,,,MODIFIER,,,,1;AC004836.1,upstream_gene_variant,,ENST00000623032,,,MODIFIER,YES,,,1;CDHR3,non_coding_transcript_exon_variant,,ENST00000468143,,n.495C>T,MODIFIER,,,,1","T","ENSG00000128536","ENST00000317716","Transcript","missense_variant","missense_variant","2699/6448","2644/2658","882/885","H/Y","Cac/Tac","rs1326346871;COSV58418447",null,1,"CDHR3","HGNC","HGNC:26308","protein_coding","YES","CCDS47684.1","ENSP00000325954","Q6ZTQ4.130",null,"UPI00001C0C6E","Q6ZTQ4-1","NM_152750.5","NM_152750.5","P1",null,"deleterious_low_confidence(0.01)","possibly_damaging(0.446)","19/19",null,"PANTHER:PTHR24027;PANTHER:PTHR24027:SF417;MobiDB_lite:mobidb-lite",{"$nulls":8},"4.066e-06","6.612e-05",0,0,0,0,0,0,0,"6.612e-05","gnomAD_AFR","2.028179915214423e-05","7.297140109585598e-05",0,0,0,0,0,0,0,0,0,"7.297140109585598e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AACCACACCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3876990;COSM3876991;COSM3876992","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FOXP2",93986,"BI","GRCh38","chr7",114663464,114663465,"+","Frame_Shift_Ins","INS","-","-","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1790dup","p.Asn597LysfsTer13","p.N597Kfs*13","ENST00000350908","15/17",79,61,18,75,null,null,"FOXP2,frameshift_variant,p.N597Kfs*13,ENST00000350908,NM_014491.4&NM_001172766.3,c.1790dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N622Kfs*13,ENST00000408937,NM_148898.4,c.1865dup,HIGH,YES,,,1;FOXP2,frameshift_variant,p.N614Kfs*13,ENST00000403559,NM_148900.3,c.1841dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N412Kfs*13,ENST00000393491,,c.1235dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N594Kfs*13,ENST00000635534,,c.1781dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N580Kfs*13,ENST00000634411,,c.1739dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N597Kfs*13,ENST00000393494,,c.1790dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N576Kfs*13,ENST00000393498,,c.1727dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N598Kfs*13,ENST00000635638,,c.1793dup,HIGH,,,,1;FOXP2,frameshift_variant,p.N577Kfs*13,ENST00000634623,,c.1730dup,HIGH,,,,1;FOXP2,non_coding_transcript_exon_variant,,ENST00000634664,,n.265dup,MODIFIER,,,,1;FOXP2,3_prime_UTR_variant,,ENST00000441290,,c.*1790dup,MODIFIER,,,,1;FOXP2,3_prime_UTR_variant,,ENST00000412402,,c.*1508dup,MODIFIER,,,,1;FOXP2,3_prime_UTR_variant,,ENST00000635109,,c.*1587dup,MODIFIER,,,,1;FOXP2,3_prime_UTR_variant,,ENST00000393489,,c.*1584dup,MODIFIER,,,,1","A","ENSG00000128573","ENST00000350908","Transcript","frameshift_variant","frameshift_variant","2340-2341/6543","1784-1785/2148","595/715","V/VX","gta/gtAa",null,null,1,"FOXP2","HGNC","HGNC:13875","protein_coding",null,"CCDS5760.1","ENSP00000265436","O15409.195",null,"UPI000012ADEC","O15409-1","NM_014491.4;NM_001172766.3","NM_014491.4","P4",{"$nulls":3},"15/17",null,"PANTHER:PTHR45796:SF8;PANTHER:PTHR45796",{"$nulls":41},"HIGH",null,"insertion",1,6,null,1,"CTTAGTAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1447410;COSM5091910","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["WNT16",51384,"BI","GRCh38","chr7",121339238,121339238,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.991A>G","p.Thr331Ala","p.T331A","ENST00000222462","2024-04-04",107,97,10,75,null,null,"WNT16,missense_variant,p.T331A,ENST00000222462,NM_057168.2,c.991A>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;WNT16,missense_variant,p.T321A,ENST00000361301,NM_016087.2,c.961A>G,MODERATE,,tolerated(0.07),probably_damaging(0.998),1","G","ENSG00000002745","ENST00000222462","Transcript","missense_variant","missense_variant","1284/3150","991/1098","331/365","T/A","Acc/Gcc","COSV55976250",null,1,"WNT16","HGNC","HGNC:16267","protein_coding","YES","CCDS5781.1","ENSP00000222462","Q9UBV4.154",null,"UPI000005104C","Q9UBV4-1","NM_057168.2","NM_057168.2","P2",null,"deleterious(0)","probably_damaging(0.998)","2024-04-04",null,"PANTHER:PTHR12027:SF70;PANTHER:PTHR12027;Gene3D:3.30.2460.20;Pfam:PF00110;SMART:SM00097",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACAACACCCAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3877588;COSM3877589","N","Unknown",{"$nulls":3},"muse;mutect2"]
["IQUB",154865,"BI","GRCh38","chr7",123479801,123479802,"+","Frame_Shift_Ins","INS","-","-","A","rs1386200642",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1403dup","p.Leu468PhefsTer3","p.L468Ffs*3","ENST00000324698","2024-08-13",49,40,9,40,null,null,"IQUB,frameshift_variant,p.L468Ffs*3,ENST00000466202,NM_001282855.1&NM_001321293.1,c.1403dup,HIGH,YES,,,-1;IQUB,frameshift_variant,p.L468Ffs*3,ENST00000324698,NM_178827.5,c.1403dup,HIGH,,,,-1;IQUB,frameshift_variant,p.L468Ffs*3,ENST00000484508,,c.1403dup,HIGH,,,,-1;IQUB,intron_variant,,ENST00000469057,,c.1235-10418dup,MODIFIER,,,,-1","A","ENSG00000164675","ENST00000324698","Transcript","frameshift_variant","frameshift_variant","1511-1512/3034","1403-1404/2376","468/791","L/FX","ttg/ttTg","rs1386200642",null,-1,"IQUB","HGNC","HGNC:21995","protein_coding",null,"CCDS5787.1","ENSP00000324882","Q8NA54.134","A0A024R771.46","UPI000013E3DF","Q8NA54-1","NM_178827.5","NM_178827.5","P1",{"$nulls":3},"2024-08-13",null,"PANTHER:PTHR21074",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","6.770940217393218e-06",0,0,0,0,0,0,0,0,0,0.000209204998100176,{"$nulls":11},"HIGH",null,"insertion",1,{"$nulls":3},"TTATCCAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM5367716","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["GPR37",2861,"BI","GRCh38","chr7",124764420,124764420,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.557C>T","p.Ala186Val","p.A186V","ENST00000303921","2024-01-02",127,85,41,137,null,null,"GPR37,missense_variant,p.A186V,ENST00000303921,NM_005302.5,c.557C>T,MODERATE,YES,tolerated(0.09),benign(0.003),-1","A","ENSG00000170775","ENST00000303921","Transcript","missense_variant","missense_variant","1373/5298","557/1842","186/613","A/V","gCc/gTc","COSV58257504",null,-1,"GPR37","HGNC","HGNC:4494","protein_coding","YES","CCDS5792.1","ENSP00000306449","O15354.165",null,"UPI0000001C92",null,"NM_005302.5","NM_005302.5","P1",null,"tolerated(0.09)","benign(0.003)","2024-01-02",null,"PANTHER:PTHR46216;PANTHER:PTHR46216:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCCCGGCTCTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3877763","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAX4",5078,"BI","GRCh38","chr7",127611116,127611116,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1004G>A","p.Gly335Asp","p.G335D","ENST00000639438","2024-12-12",14,10,4,14,null,null,"PAX4,missense_variant,p.G335D,ENST00000639438,NM_001366110.1,c.1004G>A,MODERATE,YES,deleterious_low_confidence(0),benign(0.023),-1;PAX4,missense_variant,p.G327D,ENST00000341640,,c.980G>A,MODERATE,,deleterious_low_confidence(0),benign(0),-1;PAX4,intron_variant,,ENST00000338516,,c.914-131G>A,MODIFIER,,,,-1;PAX4,intron_variant,,ENST00000378740,NM_001366111.1,c.914-131G>A,MODIFIER,,,,-1;PAX4,downstream_gene_variant,,ENST00000611453,,,MODIFIER,,,,-1;PAX4,non_coding_transcript_exon_variant,,ENST00000463946,,n.1435G>A,MODIFIER,,,,-1;PAX4,intron_variant,,ENST00000483494,,n.1517-131G>A,MODIFIER,,,,-1;PAX4,downstream_gene_variant,,ENST00000477423,,,MODIFIER,,,,-1","T","ENSG00000106331","ENST00000639438","Transcript","missense_variant","missense_variant","1410/2234","1004/1056","335/351","G/D","gGc/gAc","COSV58389420",null,-1,"PAX4","HGNC","HGNC:8618","protein_coding","YES",null,"ENSP00000491782",null,"A0A1W2PPX4.25","UPI0005CFF46A",null,"NM_001366110.1","NM_001366110.1","A2",null,"deleterious_low_confidence(0)","benign(0.023)","2024-12-12",null,"PANTHER:PTHR45636:SF8;PANTHER:PTHR45636",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"GAGAGCCACTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3877874","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CYREN",78996,"BI","GRCh38","chr7",135166618,135166618,"+","Frame_Shift_Del","DEL","A","A","-","rs1402345687",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.467del","p.Phe156SerfsTer5","p.F156Sfs*5","ENST00000393114","2024-04-04",94,62,32,113,null,null,"CYREN,frameshift_variant,p.F101Sfs*5,ENST00000424142,,c.302del,HIGH,,,,-1;CYREN,frameshift_variant,p.F156Sfs*5,ENST00000393114,NM_001305629.1&NM_001363329.1&NM_001363330.1&NM_024033.4,c.467del,HIGH,YES,,,-1;CYREN,frameshift_variant,p.F101Sfs*5,ENST00000620897,NM_001243755.1,c.302del,HIGH,,,,-1;CYREN,frameshift_variant,p.F101Sfs*5,ENST00000483029,NM_001243754.1,c.302del,HIGH,,,,-1;CYREN,3_prime_UTR_variant,,ENST00000617987,NM_001243751.1&NM_001243749.1&NM_001243752.1&NM_001243753.1,c.*294del,MODIFIER,,,,-1;CYREN,3_prime_UTR_variant,,ENST00000430372,,c.*298del,MODIFIER,,,,-1;TMEM140,downstream_gene_variant,,ENST00000275767,NM_018295.5,,MODIFIER,YES,,,1;CYREN,non_coding_transcript_exon_variant,,ENST00000472428,,n.680del,MODIFIER,,,,-1;CYREN,non_coding_transcript_exon_variant,,ENST00000477820,,n.513del,MODIFIER,,,,-1;CYREN,intron_variant,,ENST00000459937,NM_001305630.1,n.356+2131del,MODIFIER,,,,-1;CYREN,downstream_gene_variant,,ENST00000488161,,,MODIFIER,,,,-1;CYREN,non_coding_transcript_exon_variant,,ENST00000481410,,n.702del,MODIFIER,,,,-1;CYREN,downstream_gene_variant,,ENST00000486115,,,MODIFIER,,,,-1;CYREN,downstream_gene_variant,,ENST00000487774,,,MODIFIER,,,,-1;AC083862.1,upstream_gene_variant,,ENST00000608819,,,MODIFIER,YES,,,1;AC083862.2,upstream_gene_variant,,ENST00000670978,,,MODIFIER,YES,,,1","-","ENSG00000122783","ENST00000393114","Transcript","frameshift_variant","frameshift_variant","661/1494","467/474","156/157","F/X","tTc/tc","rs1402345687",null,-1,"CYREN","HGNC","HGNC:22432","protein_coding","YES","CCDS5838.2","ENSP00000376823","Q9BWK5.126",null,"UPI00003742B5","Q9BWK5-1","NM_001305629.1;NM_001363329.1;NM_001363330.1;NM_024033.4","NM_024033.4","P2",{"$nulls":3},"2024-04-04",null,"PANTHER:PTHR14566;Pfam:PF15325",{"$nulls":19},"6.75803994454327e-06","2.4313199901371263e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"TAGCTGAAAAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ARHGEF5",7984,"BI","GRCh38","chr7",144378765,144378765,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4540del","p.Gln1514ArgfsTer24","p.Q1514Rfs*24","ENST00000056217","14/15",248,186,61,192,null,null,"ARHGEF5,frameshift_variant,p.Q1514Rfs*24,ENST00000056217,NM_005435.4,c.4540del,HIGH,YES,,,1;ARHGEF5,frameshift_variant,p.Q714Rfs*24,ENST00000474817,,c.2139del,HIGH,,,,1;ARHGEF5,frameshift_variant,p.Q436Rfs*24,ENST00000471847,,c.1306del,HIGH,,,,1","-","ENSG00000050327","ENST00000056217","Transcript","frameshift_variant","frameshift_variant","4647/5482","4535/4794","1512/1597","S/X","tCc/tc",null,null,1,"ARHGEF5","HGNC","HGNC:13209","protein_coding","YES","CCDS34771.1","ENSP00000056217","Q12774.179",null,"UPI00004028DC","Q12774-1","NM_005435.4","NM_005435.4","P1",{"$nulls":3},"14/15",null,"Gene3D:2.30.30.40;PROSITE_profiles:PS50002;PANTHER:PTHR12845;PANTHER:PTHR12845:SF2;Superfamily:SSF50044;Superfamily:SSF50729",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"AAGACTCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3729953","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZNF786",136051,"BI","GRCh38","chr7",149071398,149071398,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1374T>G","p.Cys458Trp","p.C458W","ENST00000491431","2024-04-04",36,30,6,37,null,null,"ZNF786,missense_variant,p.C458W,ENST00000491431,NM_152411.4,c.1374T>G,MODERATE,YES,deleterious(0),probably_damaging(1),-1;ZNF786,missense_variant,p.C372W,ENST00000316286,,c.1116T>G,MODERATE,,deleterious(0),probably_damaging(1),-1","C","ENSG00000197362","ENST00000491431","Transcript","missense_variant","missense_variant","1452/3209","1374/2349","458/782","C/W","tgT/tgG","COSV60276637",null,-1,"ZNF786","HGNC","HGNC:21806","protein_coding","YES","CCDS47738.1","ENSP00000417470","Q8N393.145",null,"UPI000013FD40","Q8N393-1","NM_152411.4","NM_152411.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-04-04",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24384;PANTHER:PTHR24384;PANTHER:PTHR24384:SF188;PANTHER:PTHR24384:SF188;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGCCACACTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3879141","N","Unknown",{"$nulls":3},"muse;mutect2"]
["REPIN1",29803,"BI","GRCh38","chr7",150372055,150372055,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.814C>T","p.Arg272Cys","p.R272C","ENST00000397281","2024-04-04",65,47,17,73,null,null,"REPIN1,missense_variant,p.R272C,ENST00000397281,NM_001362746.2&NM_013400.3,c.814C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;REPIN1,missense_variant,p.R272C,ENST00000444957,NM_001099696.2&NM_001362747.2,c.814C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;REPIN1,missense_variant,p.R272C,ENST00000425389,,c.814C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;REPIN1,missense_variant,p.R329C,ENST00000489432,NM_001362745.2&NM_001099695.2,c.985C>T,MODERATE,YES,deleterious(0.03),benign(0.297),1;REPIN1,missense_variant,p.R332C,ENST00000488943,,c.994C>T,MODERATE,,deleterious(0.03),probably_damaging(0.987),1;REPIN1,missense_variant,p.R331C,ENST00000475514,,c.991C>T,MODERATE,,deleterious(0.02),probably_damaging(0.987),1;REPIN1,3_prime_UTR_variant,,ENST00000479668,,c.*699C>T,MODIFIER,,,,1;REPIN1,3_prime_UTR_variant,,ENST00000466559,,c.*699C>T,MODIFIER,,,,1;ZNF775,intron_variant,,ENST00000478789,,c.-50+3114C>T,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000482680,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000518514,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000519397,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000518462,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000467980,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000469309,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000473391,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000486714,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000487455,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000495535,,,MODIFIER,,,,1;REPIN1,downstream_gene_variant,,ENST00000522266,,,MODIFIER,,,,1;REPIN1-AS1,intron_variant,,ENST00000488310,,n.98+438G>A,MODIFIER,YES,,,-1","T","ENSG00000214022","ENST00000397281","Transcript","missense_variant","missense_variant","1303/3292","814/1704","272/567","R/C","Cgc/Tgc","COSV68292483",null,1,"REPIN1","HGNC","HGNC:17922","protein_coding",null,"CCDS43677.1","ENSP00000380451","Q9BWE0.151","A0A090N8H1.49","UPI0000071834","Q9BWE0-3","NM_001362746.2;NM_013400.3",null,"P2",null,"deleterious(0.02)","probably_damaging(0.999)","2024-04-04",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24406;PANTHER:PTHR24406:SF10;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"GGAAGCGCTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3879246;COSM3879247","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KMT2C",58508,"BI","GRCh38","chr7",152148105,152148105,"+","Missense_Mutation","SNP","G","G","A","rs764910946",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.13822C>T","p.Arg4608Cys","p.R4608C","ENST00000262189","52/59",73,50,23,90,null,null,"KMT2C,missense_variant,p.R4608C,ENST00000262189,NM_170606.3,c.13822C>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.825),-1;KMT2C,missense_variant,p.R2169C,ENST00000360104,,c.6505C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.528),-1;KMT2C,missense_variant,p.R1225C,ENST00000424877,,c.3673C>T,MODERATE,,deleterious(0.02),benign(0.007),-1;KMT2C,downstream_gene_variant,,ENST00000418061,,,MODIFIER,,,,-1;KMT2C,downstream_gene_variant,,ENST00000485241,,,MODIFIER,,,,-1;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,,n.11704C>T,MODIFIER,,,,-1","A","ENSG00000055609","ENST00000262189","Transcript","missense_variant","missense_variant","14039/16860","13822/14736","4608/4911","R/C","Cgc/Tgc","rs764910946;COSV51423935",null,-1,"KMT2C","HGNC","HGNC:13726","protein_coding","YES","CCDS5931.1","ENSP00000262189","Q8NEZ4.183",null,"UPI0000141B9F","Q8NEZ4-1","NM_170606.3","NM_170606.3","P1",null,"tolerated(0.06)","possibly_damaging(0.825)","52/59",null,"Gene3D:3.30.160.360;Pfam:PF05965;PROSITE_profiles:PS51543;PANTHER:PTHR45888;PANTHER:PTHR45888:SF1",{"$nulls":8},"1.594e-05",0,0,0,"5.438e-05","4.643e-05",0,0,"6.545e-05","6.545e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TGGGCGCCCAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM312890;COSM312891","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KMT2C",58508,"BI","GRCh38","chr7",152177007,152177008,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.8445dup","p.Ser2816IlefsTer6","p.S2816Ifs*6","ENST00000262189","38/59",123,86,37,90,null,null,"KMT2C,frameshift_variant,p.S2816Ifs*6,ENST00000262189,NM_170606.3,c.8445dup,HIGH,YES,,,-1;KMT2C,frameshift_variant,p.S322Ifs*6,ENST00000360104,,c.961dup,HIGH,,,,-1;KMT2C,downstream_gene_variant,,ENST00000558665,,,MODIFIER,,,,-1;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,,n.6156dup,MODIFIER,,,,-1","T","ENSG00000055609","ENST00000262189","Transcript","frameshift_variant","frameshift_variant","8662-8663/16860","8445-8446/14736","2815-2816/4911","-/X","-/A",null,null,-1,"KMT2C","HGNC","HGNC:13726","protein_coding","YES","CCDS5931.1","ENSP00000262189","Q8NEZ4.183",null,"UPI0000141B9F","Q8NEZ4-1","NM_170606.3","NM_170606.3","P1",{"$nulls":3},"38/59",null,"PANTHER:PTHR45888;PANTHER:PTHR45888:SF1;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"insertion",1,null,null,1,"AGTGGATTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MSR1",4481,"BI","GRCh38","chr8",16155119,16155119,"+","Frame_Shift_Del","DEL","T","T","-","rs1197417676",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.843del","p.Gly282GlufsTer18","p.G282Efs*18","ENST00000262101","2024-06-10",83,60,22,52,null,null,"MSR1,frameshift_variant,p.G282Efs*18,ENST00000262101,NM_138715.3,c.843del,HIGH,,,,-1;MSR1,frameshift_variant,p.G282Efs*18,ENST00000350896,NM_138716.2,c.843del,HIGH,,,,-1;MSR1,frameshift_variant,p.G282Efs*18,ENST00000381998,NM_002445.4,c.843del,HIGH,,,,-1;MSR1,frameshift_variant,p.G300Efs*18,ENST00000445506,NM_001363744.1,c.897del,HIGH,YES,,,-1;MSR1,frameshift_variant,p.G282Efs*18,ENST00000355282,,c.843del,HIGH,,,,-1;MSR1,frameshift_variant,p.G72Efs*18,ENST00000522672,,c.213del,HIGH,,,,-1;MSR1,3_prime_UTR_variant,,ENST00000519060,,c.*202del,MODIFIER,,,,-1","-","ENSG00000038945","ENST00000262101","Transcript","frameshift_variant","frameshift_variant","901/3618","843/1356","281/451","K/X","aaA/aa","rs1197417676",null,-1,"MSR1","HGNC","HGNC:7376","protein_coding",null,"CCDS5995.1","ENSP00000262101","P21757.199",null,"UPI000012F686","P21757-1","NM_138715.3","NM_138715.3","P2",{"$nulls":3},"2024-06-10",null,"Pfam:PF01391;PANTHER:PTHR19331:SF440;PANTHER:PTHR19331;MobiDB_lite:mobidb-lite",{"$nulls":19},"6.772219876438612e-06",0,0,0,0,0,"9.423289884580299e-05",0,0,0,0,{"$nulls":11},"HIGH",null,"deletion",1,null,null,1,"ATCTCCTTTTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FAM160B2",0,"BI","GRCh38","chr8",22101813,22101813,"+","Nonsense_Mutation","SNP","C","C","T","rs756579712",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1813C>T","p.Arg605Ter","p.R605*","ENST00000289921","14/17",30,24,6,42,null,null,"FAM160B2,stop_gained,p.R605*,ENST00000289921,NM_001354251.2&NM_022749.7&NM_001354250.2,c.1813C>T,HIGH,YES,,,1;FAM160B2,stop_gained,p.R605*,ENST00000450006,,c.1813C>T,HIGH,,,,1;FAM160B2,non_coding_transcript_exon_variant,,ENST00000496599,,n.154C>T,MODIFIER,,,,1;FAM160B2,non_coding_transcript_exon_variant,,ENST00000477614,,n.447C>T,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000427751,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000462914,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000464226,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000474579,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000488968,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000491733,,,MODIFIER,,,,1;FAM160B2,downstream_gene_variant,,ENST00000498344,,,MODIFIER,,,,1;FAM160B2,upstream_gene_variant,,ENST00000523633,,,MODIFIER,,,,1","T","ENSG00000158863","ENST00000289921","Transcript","stop_gained","stop_gained","1917/4316","1813/2232","605/743","R/*","Cga/Tga","rs756579712;COSV57157966",null,1,"FAM160B2","HGNC","HGNC:16492","protein_coding","YES","CCDS6021.2","ENSP00000289921","Q86V87.107",null,"UPI00006C5119",null,"NM_001354251.2;NM_022749.7;NM_001354250.2","NM_022749.7","P1",{"$nulls":3},"14/17",null,"PANTHER:PTHR21705;PANTHER:PTHR21705:SF9",{"$nulls":8},"8.068e-06",0,0,0,"5.57e-05",0,"8.919e-06",0,0,"5.57e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"SNV",5,null,"0;1",null,"TCCTCCGAGTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1456030;COSM1456031","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LGI3",203190,"BI","GRCh38","chr8",22148903,22148903,"+","Missense_Mutation","SNP","C","C","T","rs757547343",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.904G>A","p.Gly302Ser","p.G302S","ENST00000306317","2024-08-08",55,38,17,47,null,null,"LGI3,missense_variant,p.G302S,ENST00000306317,NM_139278.4,c.904G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;LGI3,missense_variant,p.G278S,ENST00000424267,,c.832G>A,MODERATE,,deleterious(0),probably_damaging(0.953),-1;LGI3,downstream_gene_variant,,ENST00000517694,,,MODIFIER,,,,-1;LGI3,non_coding_transcript_exon_variant,,ENST00000520124,,n.2347G>A,MODIFIER,,,,-1;LGI3,downstream_gene_variant,,ENST00000518365,,,MODIFIER,,,,-1","T","ENSG00000168481","ENST00000306317","Transcript","missense_variant","missense_variant","1168/3241","904/1647","302/548","G/S","Ggc/Agc","rs757547343;COSV60443691",null,-1,"LGI3","HGNC","HGNC:18711","protein_coding","YES","CCDS6025.1","ENSP00000302297","Q8N145.148",null,"UPI0000070742","Q8N145-1","NM_139278.4","NM_139278.4","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-08-08",null,"PROSITE_profiles:PS50912;PANTHER:PTHR24367;PANTHER:PTHR24367:SF10;Pfam:PF03736;Superfamily:SSF50952",{"$nulls":8},"7.977e-06",0,0,0,"5.438e-05",0,0,0,"3.268e-05","5.438e-05","gnomAD_EAS","6.760410087736091e-06",0,0,0,0,0,0,0,0,0,0.000208507000934332,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGAGCCGCCAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1098032","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ENTPD4",9583,"BI","GRCh38","chr8",23444466,23444466,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.553C>A","p.Leu185Ile","p.L185I","ENST00000358689","2024-05-13",164,126,38,110,null,null,"ENTPD4,missense_variant,p.L185I,ENST00000358689,NM_004901.5,c.553C>A,MODERATE,YES,tolerated(0.18),probably_damaging(0.953),-1;ENTPD4,missense_variant,p.L185I,ENST00000356206,,c.553C>A,MODERATE,,tolerated(0.17),probably_damaging(0.953),-1;ENTPD4,missense_variant,p.L185I,ENST00000417069,NM_001128930.2,c.553C>A,MODERATE,,tolerated(0.18),probably_damaging(0.921),-1;ENTPD4,missense_variant,p.L60I,ENST00000519839,,c.178C>A,MODERATE,,tolerated(0.12),possibly_damaging(0.81),-1;ENTPD4,downstream_gene_variant,,ENST00000518718,,,MODIFIER,,,,-1;ENTPD4,non_coding_transcript_exon_variant,,ENST00000523958,,n.733C>A,MODIFIER,,,,-1;ENTPD4,upstream_gene_variant,,ENST00000520936,,,MODIFIER,,,,-1","T","ENSG00000197217","ENST00000358689","Transcript","missense_variant","missense_variant","741/5803","553/1851","185/616","L/I","Ctc/Atc","COSV62269347",null,-1,"ENTPD4","HGNC","HGNC:14573","protein_coding","YES","CCDS6041.1","ENSP00000351520","Q9Y227.173",null,"UPI0000129FB4","Q9Y227-1","NM_004901.5","NM_004901.5","A1",null,"tolerated(0.18)","probably_damaging(0.953)","2024-05-13",null,"CDD:cd00012;PANTHER:PTHR11782;PANTHER:PTHR11782:SF29;Pfam:PF01150;Gene3D:3.30.420.40",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGGGAGGATTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3899035","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EBF2",64641,"BI","GRCh38","chr8",26042175,26042175,"+","Missense_Mutation","SNP","C","C","T","rs1176695970",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.208G>A","p.Val70Ile","p.V70I","ENST00000520164","2024-02-16",128,97,30,89,null,null,"EBF2,missense_variant,p.V70I,ENST00000520164,NM_022659.4,c.208G>A,MODERATE,YES,deleterious(0.03),benign(0.081),-1;EBF2,upstream_gene_variant,,ENST00000408929,,,MODIFIER,,,,-1;EBF2,non_coding_transcript_exon_variant,,ENST00000517825,,n.527G>A,MODIFIER,,,,-1","T","ENSG00000221818","ENST00000520164","Transcript","missense_variant","missense_variant","762/5166","208/1728","70/575","V/I","Gtc/Atc","rs1176695970;COSV101282277;COSV68777405",null,-1,"EBF2","HGNC","HGNC:19090","protein_coding","YES","CCDS43726.1","ENSP00000430241","Q9HAK2.151",null,"UPI0000DD7EC9","Q9HAK2-1","NM_022659.4","NM_022659.4","P1",null,"deleterious(0.03)","benign(0.081)","2024-02-16",null,"Gene3D:2.60.40.3180;Pfam:PF16422;PANTHER:PTHR10747;PANTHER:PTHR10747:SF33;CDD:cd11606",{"$nulls":19},"6.763249984942377e-06",0,0,0,0,0,0,0,"1.5432100553880446e-05",0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1;1",null,"CAGGACGAAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3432305;COSM3432306","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCARA5",286133,"BI","GRCh38","chr8",27966521,27966521,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.134C>G","p.Ala45Gly","p.A45G","ENST00000354914","2024-03-09",217,176,41,153,null,null,"SCARA5,missense_variant,p.A45G,ENST00000354914,NM_173833.6,c.134C>G,MODERATE,YES,tolerated(0.14),benign(0.014),-1;SCARA5,missense_variant,p.A45G,ENST00000380385,,c.134C>G,MODERATE,,tolerated_low_confidence(0.44),benign(0.022),-1;SCARA5,missense_variant,p.A45G,ENST00000524352,,c.134C>G,MODERATE,,tolerated(0.07),benign(0.051),-1;SCARA5,intron_variant,,ENST00000518030,,c.112+20983C>G,MODIFIER,,,,-1","C","ENSG00000168079","ENST00000354914","Transcript","missense_variant","missense_variant","566/3971","134/1488","45/495","A/G","gCa/gGa",null,null,-1,"SCARA5","HGNC","HGNC:28701","protein_coding","YES","CCDS6064.1","ENSP00000346990","Q6ZMJ2.138",null,"UPI000015FA6D","Q6ZMJ2-1","NM_173833.6","NM_173833.6","P1",null,"tolerated(0.14)","benign(0.014)","2024-03-09",null,"PANTHER:PTHR19331;PANTHER:PTHR19331:SF447;HAMAP:MF_03070",{"$nulls":41},"MODERATE",1,"SNV",2,{"$nulls":3},"TGCTTGCCCGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3899348;COSM3899349","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NSD3",54904,"BI","GRCh38","chr8",38347690,38347691,"+","Frame_Shift_Del","DEL","AT","AT","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.481_482del","p.Ile161ProfsTer8","p.I161Pfs*8","ENST00000317025","2024-02-24",170,139,31,99,null,null,"NSD3,frameshift_variant,p.I161Pfs*8,ENST00000317025,NM_023034.2,c.481_482del,HIGH,YES,,,-1;NSD3,frameshift_variant,p.I161Pfs*8,ENST00000433384,,c.481_482del,HIGH,,,,-1;NSD3,frameshift_variant,p.I161Pfs*8,ENST00000527502,,c.481_482del,HIGH,,,,-1;NSD3,frameshift_variant,p.I161Pfs*8,ENST00000316985,NM_017778.2,c.481_482del,HIGH,,,,-1;NSD3,frameshift_variant,p.I161Pfs*8,ENST00000529223,,c.481_482del,HIGH,,,,-1;NSD3,downstream_gene_variant,,ENST00000534155,,,MODIFIER,,,,-1;NSD3,downstream_gene_variant,,ENST00000534539,,,MODIFIER,,,,-1","-","ENSG00000147548","ENST00000317025","Transcript","frameshift_variant","frameshift_variant","998-999/10768","481-482/4314","161/1437","I/X","ATc/c",null,null,-1,"NSD3","HGNC","HGNC:12767","protein_coding","YES","CCDS43729.1","ENSP00000313983","Q9BZ95.179",null,"UPI000006F297","Q9BZ95-1","NM_023034.2","NM_023034.2","P4",{"$nulls":3},"2024-02-24",null,"PDB-ENSP_mappings:2ncz.B;PANTHER:PTHR22884:SF473;PANTHER:PTHR22884",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"TTCTGGATAGTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["BHLHE22",27319,"BI","GRCh38","chr8",64581149,64581149,"+","Missense_Mutation","SNP","C","C","T","rs1250934563",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.359C>T","p.Pro120Leu","p.P120L","ENST00000321870","2024-01-01",21,14,7,10,null,null,"BHLHE22,missense_variant,p.P120L,ENST00000321870,NM_152414.5,c.359C>T,MODERATE,YES,tolerated_low_confidence(0.32),benign(0.001),1;AC090136.3,intron_variant,,ENST00000517909,,n.171+569G>A,MODIFIER,,,,-1;AC090136.3,intron_variant,,ENST00000665275,,n.94+569G>A,MODIFIER,YES,,,-1;AC090136.3,intron_variant,,ENST00000670034,,n.204+569G>A,MODIFIER,,,,-1;AC090136.3,upstream_gene_variant,,ENST00000520834,,,MODIFIER,,,,-1;AC090136.3,upstream_gene_variant,,ENST00000658391,,,MODIFIER,,,,-1","T","ENSG00000180828","ENST00000321870","Transcript","missense_variant","missense_variant","785/3263","359/1146","120/381","P/L","cCg/cTg","rs1250934563;COSV58862038",null,1,"BHLHE22","HGNC","HGNC:11963","protein_coding","YES","CCDS6179.1","ENSP00000318799","Q8NFJ8.125",null,"UPI0000070A3C",null,"NM_152414.5","NM_152414.5","P1",null,"tolerated_low_confidence(0.32)","benign(0.001)","2024-01-01",null,"PANTHER:PTHR19290;PANTHER:PTHR19290:SF52",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","2.7307100026519038e-05",0,0,0.000199786998564377,0,0,0,0,"1.550819979456719e-05",0,0,0.000199786998564377,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"CCTGCCGGCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3900955","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRDM14",63978,"BI","GRCh38","chr8",70058695,70058695,"+","Missense_Mutation","SNP","C","C","T","rs1308927556",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1331G>A","p.Arg444Gln","p.R444Q","ENST00000276594","2024-06-08",98,75,23,78,null,null,"PRDM14,missense_variant,p.R444Q,ENST00000276594,NM_024504.4,c.1331G>A,MODERATE,YES,tolerated(0.05),probably_damaging(0.999),-1","T","ENSG00000147596","ENST00000276594","Transcript","missense_variant","missense_variant","1458/2269","1331/1716","444/571","R/Q","cGg/cAg","rs1308927556;COSV52573004",null,-1,"PRDM14","HGNC","HGNC:14001","protein_coding","YES","CCDS6206.1","ENSP00000276594","Q9GZV8.177",null,"UPI0000132186",null,"NM_024504.4","NM_024504.4","P1",null,"tolerated(0.05)","probably_damaging(0.999)","2024-06-08",null,"Gene3D:3.30.160.60;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR16515;PANTHER:PTHR16515:SF19;SMART:SM00355;Superfamily:SSF57667",{"$nulls":8},"3.976e-06",0,0,0,0,0,0,0,"3.266e-05","3.266e-05","gnomAD_SAS","6.7614200816024095e-06","2.4322600438608788e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GGTCCCGCTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3901322","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NCOA2",10499,"BI","GRCh38","chr8",70121330,70121330,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4355T>G","p.Met1452Arg","p.M1452R","ENST00000452400","22/23",36,33,3,23,null,null,"NCOA2,missense_variant,p.M1452R,ENST00000452400,NM_001321703.2&NM_001321711.2&NM_006540.4&NM_001321707.2&NM_001321713.2&NM_001321712.2,c.4355T>G,MODERATE,YES,deleterious_low_confidence(0),benign(0.263),-1;NCOA2,missense_variant,p.M578R,ENST00000518363,,c.1733T>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.713),-1;NCOA2,intron_variant,,ENST00000518287,,c.*1330+2474T>G,MODIFIER,,,,-1","C","ENSG00000140396","ENST00000452400","Transcript","missense_variant","missense_variant","4540/8430","4355/4395","1452/1464","M/R","aTg/aGg","COSV51220284",null,-1,"NCOA2","HGNC","HGNC:7669","protein_coding","YES","CCDS47872.1","ENSP00000399968","Q15596.221",null,"UPI000012FE42",null,"NM_001321703.2;NM_001321711.2;NM_006540.4;NM_001321707.2;NM_001321713.2;NM_001321712.2","NM_006540.4","P1",null,"deleterious_low_confidence(0)","benign(0.263)","22/23",null,"PIRSF:PIRSF038181;PANTHER:PTHR10684;PANTHER:PTHR10684:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TAATCATATCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3901332","N","Unknown",{"$nulls":3},"muse;mutect2"]
["LACTB2",51110,"BI","GRCh38","chr8",70644142,70644142,"+","Missense_Mutation","SNP","G","G","A","rs369180364",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.515C>T","p.Thr172Met","p.T172M","ENST00000276590","2024-04-07",365,287,77,244,null,null,"LACTB2,missense_variant,p.T172M,ENST00000276590,NM_016027.3,c.515C>T,MODERATE,YES,deleterious(0),probably_damaging(0.94),-1;LACTB2,missense_variant,p.T172M,ENST00000522447,,c.515C>T,MODERATE,,deleterious(0),probably_damaging(0.94),-1;LACTB2,non_coding_transcript_exon_variant,,ENST00000517601,,n.111C>T,MODIFIER,,,,-1;LACTB2,upstream_gene_variant,,ENST00000522558,,,MODIFIER,,,,-1;LACTB2-AS1,intron_variant,,ENST00000499227,,n.258-7671G>A,MODIFIER,YES,,,1;LACTB2-AS1,intron_variant,,ENST00000518152,,n.339-1903G>A,MODIFIER,,,,1;LACTB2-AS1,intron_variant,,ENST00000518553,,n.231-7671G>A,MODIFIER,,,,1;LACTB2-AS1,intron_variant,,ENST00000519167,,n.235-2009G>A,MODIFIER,,,,1","A","ENSG00000147592","ENST00000276590","Transcript","missense_variant","missense_variant","580/1526","515/867","172/288","T/M","aCg/aTg","rs369180364",null,-1,"LACTB2","HGNC","HGNC:18512","protein_coding","YES","CCDS6208.1","ENSP00000276590","Q53H82.110","A0A024R811.42","UPI00000382DA",null,"NM_016027.3","NM_016027.3","P1",null,"deleterious(0)","probably_damaging(0.94)","2024-04-07",null,"PDB-ENSP_mappings:4ad9.A;PDB-ENSP_mappings:4ad9.B;PDB-ENSP_mappings:4ad9.C;PDB-ENSP_mappings:4ad9.D;PDB-ENSP_mappings:4ad9.E;PDB-ENSP_mappings:4ad9.F;CDD:cd07722;PANTHER:PTHR23131:SF0;PANTHER:PTHR23131;Pfam:PF00753;Gene3D:3.60.15.10;SMART:SM00849;Superfamily:SSF56281",{"$nulls":6},0,0.0001163,"5.979e-05",0,0,0,"5.444e-05",0,"7.042e-05",0,0.0001967,0.0001967,"gnomAD_SAS","4.060200080857612e-05",0,0,0,0,0,0,0,"7.720340363448486e-05",0,2.08768004085868E-4,"7.720340363448486e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"ATACCGTTGTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2874788","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZFHX4",79776,"BI","GRCh38","chr8",76852742,76852742,"+","Missense_Mutation","SNP","G","G","A","rs544904221",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5821G>A","p.Glu1941Lys","p.E1941K","ENST00000651372","2024-10-11",77,63,14,51,null,null,"ZFHX4,missense_variant,p.E1941K,ENST00000651372,NM_024721.5,c.5821G>A,MODERATE,YES,deleterious(0.03),benign(0.037),1;ZFHX4,missense_variant,p.E1915K,ENST00000518282,,c.5743G>A,MODERATE,,deleterious(0.03),benign(0.015),1;ZFHX4,downstream_gene_variant,,ENST00000523885,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000651020,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000650716,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000519536,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000522409,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000523625,,,MODIFIER,,,,1","A","ENSG00000091656","ENST00000651372","Transcript","missense_variant","missense_variant","6241/13987","5821/10851","1941/3616","E/K","Gaa/Aaa","rs544904221;COSV51441830",null,1,"ZFHX4","HGNC","HGNC:30939","protein_coding","YES","CCDS47878.2","ENSP00000498627","Q86UP3.164",null,"UPI0000424CC7","Q86UP3-5","NM_024721.5","NM_024721.5","P4",null,"deleterious(0.03)","benign(0.037)","2024-10-11",null,"PANTHER:PTHR45891;PANTHER:PTHR45891:SF2",0.0002,0,0,0,1E-3,0,null,null,"7.647e-05",0,2.321E-4,0,0,0,"9.774e-05",0,0,1E-3,"EUR","4.056519901496358e-05",0,0,"6.626029789913446e-05",0,0,0,0,"7.716529944445938e-05",0,0,"7.716529944445938e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",1,"AAGGCGAAAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3651060;COSM3651061","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZFHX4",79776,"BI","GRCh38","chr8",76854853,76854854,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.7939dup","p.Arg2647LysfsTer29","p.R2647Kfs*29","ENST00000651372","2024-10-11",80,63,17,76,null,null,"ZFHX4,frameshift_variant,p.R2647Kfs*29,ENST00000651372,NM_024721.5,c.7939dup,HIGH,YES,,,1;ZFHX4,frameshift_variant,p.R2621Kfs*29,ENST00000518282,,c.7861dup,HIGH,,,,1;ZFHX4,downstream_gene_variant,,ENST00000523885,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000651020,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000650716,,,MODIFIER,,,,1;ZFHX4,downstream_gene_variant,,ENST00000522409,,,MODIFIER,,,,1","A","ENSG00000091656","ENST00000651372","Transcript","frameshift_variant","frameshift_variant","8352-8353/13987","7932-7933/10851","2644-2645/3616","-/X","-/A",null,null,1,"ZFHX4","HGNC","HGNC:30939","protein_coding","YES","CCDS47878.2","ENSP00000498627","Q86UP3.164",null,"UPI0000424CC7","Q86UP3-5","NM_024721.5","NM_024721.5","P4",{"$nulls":3},"2024-10-11",null,"Gene3D:1.10.10.60;Pfam:PF00046;PROSITE_patterns:PS00027;PROSITE_profiles:PS50071;PANTHER:PTHR45891;PANTHER:PTHR45891:SF2;SMART:SM00389;Superfamily:SSF46689;CDD:cd00086",{"$nulls":41},"HIGH",1,"insertion",null,7,null,1,"GGGCTGAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SLC7A13",157724,"BI","GRCh38","chr8",86214435,86214435,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1391T>C","p.Leu464Pro","p.L464P","ENST00000297524","2024-04-04",71,54,17,30,null,null,"SLC7A13,missense_variant,p.L464P,ENST00000297524,NM_138817.3,c.1391T>C,MODERATE,YES,tolerated(0.19),benign(0),-1;SLC7A13,3_prime_UTR_variant,,ENST00000419776,,c.*190T>C,MODIFIER,,,,-1;SLC7A13,downstream_gene_variant,,ENST00000520624,,,MODIFIER,,,,-1;AC084128.1,downstream_gene_variant,,ENST00000523112,,,MODIFIER,YES,,,1","G","ENSG00000164893","ENST00000297524","Transcript","missense_variant","missense_variant","1495/1867","1391/1413","464/470","L/P","cTc/cCc","COSV52535107",null,-1,"SLC7A13","HGNC","HGNC:23092","protein_coding","YES","CCDS34917.1","ENSP00000297524","Q8TCU3.123",null,"UPI000006DF39","Q8TCU3-1","NM_138817.3","NM_138817.3","P1",null,"tolerated(0.19)","benign(0)","2024-04-04",null,"PANTHER:PTHR11785;PANTHER:PTHR11785:SF238",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGGGAGGCAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3901838","N","Unknown",{"$nulls":3},"muse;mutect2"]
["RUNX1T1",862,"BI","GRCh38","chr8",91970785,91970785,"+","Missense_Mutation","SNP","G","G","A","rs1462140811",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1412C>T","p.Ala471Val","p.A471V","ENST00000265814","2024-11-12",94,68,25,82,null,null,"RUNX1T1,missense_variant,p.A471V,ENST00000613302,NM_001198627.1&NM_001198630.2,c.1412C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A471V,ENST00000617740,NM_001198626.1&NM_001198629.2,c.1412C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A471V,ENST00000523629,NM_175634.3,c.1412C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A471V,ENST00000614812,NM_001198631.1,c.1412C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A530V,ENST00000436581,NM_001198679.1,c.1589C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),-1;RUNX1T1,missense_variant,p.A444V,ENST00000613886,NM_001198632.1&NM_004349.4,c.1331C>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;RUNX1T1,missense_variant,p.A451V,ENST00000615601,NM_001198633.1,c.1352C>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;RUNX1T1,missense_variant,p.A471V,ENST00000265814,NM_001198628.1,c.1412C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A444V,ENST00000396218,,c.1331C>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;RUNX1T1,missense_variant,p.A444V,ENST00000518844,NM_001198625.2,c.1331C>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;RUNX1T1,missense_variant,p.A434V,ENST00000422361,NM_175636.2,c.1301C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A434V,ENST00000360348,NM_175635.3,c.1301C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;RUNX1T1,missense_variant,p.A482V,ENST00000520724,NM_001198634.2,c.1445C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,,c.*776C>T,MODIFIER,,,,-1;RUNX1T1,3_prime_UTR_variant,,ENST00000521751,,c.*283C>T,MODIFIER,,,,-1;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,,n.376C>T,MODIFIER,,,,-1","A","ENSG00000079102","ENST00000265814","Transcript","missense_variant","missense_variant","1606/7284","1412/1815","471/604","A/V","gCg/gTg","rs1462140811;COSV56138272",null,-1,"RUNX1T1","HGNC","HGNC:1535","protein_coding",null,"CCDS6256.1","ENSP00000265814","Q06455.205",null,"UPI000012F7B4","Q06455-1","NM_001198628.1",null,"A2",null,"deleterious(0)","probably_damaging(0.988)","2024-11-12",null,"Coiled-coils_(Ncoils):Coil;CDD:cd06503;PANTHER:PTHR10379:SF5;PANTHER:PTHR10379;Prints:PR01875",{"$nulls":8},"3.991e-06",0,0,0,0,0,"8.811e-06",0,0,"8.811e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"GCTCCGCCTCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM170016;COSM33136;COSM3902038","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ESRP1",54845,"BI","GRCh38","chr8",94674383,94674383,"+","Frame_Shift_Del","DEL","A","A","-","rs775950025",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1535del","p.Asn512ThrfsTer2","p.N512Tfs*2","ENST00000433389","2024-12-16",130,74,56,80,null,null,"ESRP1,frameshift_variant,p.N512Tfs*2,ENST00000433389,NM_017697.4,c.1535del,HIGH,YES,,,1;ESRP1,frameshift_variant,p.N512Tfs*2,ENST00000358397,NM_001034915.3,c.1535del,HIGH,,,,1;ESRP1,frameshift_variant,p.N512Tfs*2,ENST00000423620,NM_001122826.2,c.1535del,HIGH,,,,1;ESRP1,frameshift_variant,p.N512Tfs*2,ENST00000454170,NM_001122827.2,c.1535del,HIGH,,,,1;ESRP1,frameshift_variant,p.N512Tfs*2,ENST00000646773,NM_001122825.2,c.1535del,HIGH,,,,1;ESRP1,frameshift_variant,p.N378Tfs*2,ENST00000519505,,c.1131del,HIGH,,,,1;ESRP1,frameshift_variant,p.N371Tfs*2,ENST00000517610,,c.1112del,HIGH,,,,1","-","ENSG00000104413","ENST00000433389","Transcript","frameshift_variant","frameshift_variant","1673/3768","1528/2046","510/681","K/X","Aaa/aa","rs775950025",null,1,"ESRP1","HGNC","HGNC:25966","protein_coding","YES","CCDS47897.1","ENSP00000405738","Q6NXG1.138",null,"UPI0000210327","Q6NXG1-1","NM_017697.4","NM_017697.4","P4",{"$nulls":3},"2024-12-16",null,"PDB-ENSP_mappings:2rvj.A;CDD:cd12742;PANTHER:PTHR13976:SF37;PANTHER:PTHR13976;Gene3D:3.30.70.330;SMART:SM00360;Superfamily:SSF54928",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,7,null,1,"TGTCATAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1458727;COSM1458728;COSM6039545","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["DCAF13",25879,"BI","GRCh38","chr8",103441588,103441588,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1220A>C","p.Gln407Pro","p.Q407P","ENST00000612750","2024-10-11",211,156,55,157,null,null,"DCAF13,missense_variant,p.Q559P,ENST00000297579,,c.1676A>C,MODERATE,YES,deleterious(0.02),possibly_damaging(0.889),1;DCAF13,missense_variant,p.Q559P,ENST00000616836,,c.1676A>C,MODERATE,,deleterious(0.02),possibly_damaging(0.889),1;DCAF13,missense_variant,p.Q407P,ENST00000612750,NM_015420.7,c.1220A>C,MODERATE,,tolerated(0.08),benign(0.334),1;AC012213.5,intron_variant,,ENST00000649416,,c.2-33804T>G,MODIFIER,YES,,,-1;DCAF13,downstream_gene_variant,,ENST00000521999,,,MODIFIER,,,,1;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,,n.4614A>C,MODIFIER,,,,1;DCAF13,non_coding_transcript_exon_variant,,ENST00000611541,,n.2107A>C,MODIFIER,,,,1","C","ENSG00000164934","ENST00000612750","Transcript","missense_variant","missense_variant","1281/1970","1220/1338","407/445","Q/P","cAg/cCg","COSV52572588",null,1,"DCAF13","HGNC","HGNC:24535","protein_coding",null,null,"ENSP00000484962","Q9NV06.149",null,"UPI000004A085","Q9NV06-1","NM_015420.7","NM_015420.7","P1",null,"tolerated(0.08)","benign(0.334)","2024-10-11",null,"PANTHER:PTHR22851;PANTHER:PTHR22851:SF0;Pfam:PF04158",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GGAACAGCGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3884292","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RIMS2",9699,"BI","GRCh38","chr8",103500933,103500933,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.47C>T","p.Ala16Val","p.A16V","ENST00000666250","2024-01-31",64,58,5,56,null,null,"RIMS2,missense_variant,p.A16V,ENST00000666250,NM_001348490.2&NM_001348489.2,c.47C>T,MODERATE,YES,tolerated_low_confidence(0.06),possibly_damaging(0.611),1;RIMS2,missense_variant,p.A16V,ENST00000668113,NM_001348488.2&NM_001348484.2&NM_001348491.2&NM_001348486.2&NM_001348494.2&NM_001348497.2,c.47C>T,MODERATE,,tolerated_low_confidence(0.07),benign(0.146),1;RIMS2,missense_variant,p.A16V,ENST00000504942,NM_001348487.2&NM_001348492.2&NM_001348496.2&NM_001348495.2&NM_001100117.3&NM_001348493.2&NM_001348485.2,c.47C>T,MODERATE,,deleterious_low_confidence(0.04),possibly_damaging(0.564),1;RIMS2,missense_variant,p.A16V,ENST00000632716,,c.47C>T,MODERATE,,deleterious_low_confidence(0.05),probably_damaging(0.996),1;AC012213.5,intron_variant,,ENST00000649416,,c.-232+863G>A,MODIFIER,YES,,,-1;AC012213.1,intron_variant,,ENST00000523422,,n.277+467G>A,MODIFIER,,,,-1;AC012213.1,upstream_gene_variant,,ENST00000517376,,,MODIFIER,YES,,,-1","T","ENSG00000176406","ENST00000666250","Transcript","missense_variant","missense_variant","238/7564","47/4779","16/1592","A/V","gCg/gTg","COSV68485582",null,1,"RIMS2","HGNC","HGNC:17283","protein_coding","YES",null,"ENSP00000499454",null,"A0A590UJL1.3","UPI00114B5792",null,"NM_001348490.2;NM_001348489.2",{"$nulls":3},"tolerated_low_confidence(0.06)","possibly_damaging(0.611)","2024-01-31",null,"MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,1,"CCCGGCGGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3884293;COSM3884294","N","Unknown",{"$nulls":3},"muse;mutect2"]
["LRP12",29967,"BI","GRCh38","chr8",104491041,104491041,"+","Missense_Mutation","SNP","G","G","A","rs748604344",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2212C>T","p.Arg738Cys","p.R738C","ENST00000276654","2024-07-07",111,92,19,109,null,null,"LRP12,missense_variant,p.R738C,ENST00000276654,NM_013437.4,c.2212C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.818),-1;LRP12,missense_variant,p.R719C,ENST00000424843,NM_001135703.2,c.2155C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),-1;LRP12,downstream_gene_variant,,ENST00000523007,,,MODIFIER,,,,-1;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,,n.1565C>T,MODIFIER,,,,-1;LRP12,downstream_gene_variant,,ENST00000522046,,,MODIFIER,,,,-1","A","ENSG00000147650","ENST00000276654","Transcript","missense_variant","missense_variant","2321/4112","2212/2580","738/859","R/C","Cgc/Tgc","rs748604344;COSV52628819",null,-1,"LRP12","HGNC","HGNC:31708","protein_coding","YES","CCDS6303.1","ENSP00000276654","Q9Y561.176",null,"UPI0000047A9F",null,"NM_013437.4",null,"P4",null,"deleterious(0)","possibly_damaging(0.818)","2024-07-07",null,"PANTHER:PTHR45645;PANTHER:PTHR45645:SF13",{"$nulls":8},"1.593e-05",0,"2.893e-05",0,0,0,"8.809e-06",0,"6.533e-05","6.533e-05","gnomAD_SAS","6.7629698605742306e-06",0,0,0,0,0,0,0,"1.5433099179062992e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCAGCGTAGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1173364","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PKHD1L1",93035,"BI","GRCh38","chr8",109445358,109445359,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5495dup","p.Val1833SerfsTer36","p.V1833Sfs*36","ENST00000378402","38/78",79,66,13,59,null,null,"PKHD1L1,frameshift_variant,p.V1833Sfs*36,ENST00000378402,NM_177531.6,c.5495dup,HIGH,YES,,,1","C","ENSG00000205038","ENST00000378402","Transcript","frameshift_variant","frameshift_variant","5609-5610/19969","5489-5490/12732","1830/4243","S/SX","agc/agCc",null,null,1,"PKHD1L1","HGNC","HGNC:20313","protein_coding","YES","CCDS47911.1","ENSP00000367655","Q86WI1.128",null,"UPI0000E5B020",null,"NM_177531.6","NM_177531.6","P1",{"$nulls":3},"38/78",null,"Gene3D:2.60.40.10;PANTHER:PTHR46769;PANTHER:PTHR46769:SF2;SMART:SM00429;Superfamily:SSF81296",{"$nulls":41},"HIGH",1,"insertion",1,6,null,null,"CAGCAGCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SYBU",55638,"BI","GRCh38","chr8",109618950,109618950,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.319A>C","p.Ser107Arg","p.S107R","ENST00000276646","2024-03-07",167,127,40,151,null,null,"SYBU,missense_variant,p.S104R,ENST00000399066,NM_001099756.1,c.310A>C,MODERATE,,tolerated(0.3),probably_damaging(0.962),-1;SYBU,missense_variant,p.S106R,ENST00000533895,NM_017786.6,c.316A>C,MODERATE,,tolerated(0.3),benign(0.164),-1;SYBU,missense_variant,p.S107R,ENST00000422135,NM_001099744.1,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S107R,ENST00000433638,NM_001099750.1,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S107R,ENST00000276646,NM_001099754.2,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S107R,ENST00000440310,NM_001099752.1,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S112R,ENST00000424158,,c.334A>C,MODERATE,YES,tolerated(0.3),probably_damaging(0.949),-1;SYBU,missense_variant,p.S106R,ENST00000528647,NM_001099751.1,c.316A>C,MODERATE,,tolerated(0.3),benign(0.164),-1;SYBU,missense_variant,p.S107R,ENST00000408908,NM_001099748.1,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S106R,ENST00000446070,NM_001099743.2&NM_001099747.2&NM_001099753.2,c.316A>C,MODERATE,,tolerated(0.3),benign(0.164),-1;SYBU,missense_variant,p.S39R,ENST00000532779,,c.115A>C,MODERATE,,tolerated(0.24),benign(0.255),-1;SYBU,missense_variant,p.S107R,ENST00000533171,NM_001099745.2,c.319A>C,MODERATE,,tolerated(0.3),probably_damaging(0.931),-1;SYBU,missense_variant,p.S106R,ENST00000529190,,c.316A>C,MODERATE,,tolerated(0.39),benign(0.164),-1;SYBU,missense_variant,p.S107R,ENST00000524720,,c.319A>C,MODERATE,,tolerated(0.14),probably_damaging(0.931),-1;SYBU,missense_variant,p.S107R,ENST00000534501,,c.319A>C,MODERATE,,tolerated(0.22),probably_damaging(0.931),-1;SYBU,missense_variant,p.S106R,ENST00000533821,,c.316A>C,MODERATE,,tolerated(0.39),benign(0.164),-1;SYBU,5_prime_UTR_variant,,ENST00000408889,NM_001099746.1,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000533065,NM_001099755.2,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000528331,NM_001099749.2,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000532189,,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000528045,,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000528569,,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000530841,,c.-39A>C,MODIFIER,,,,-1;SYBU,5_prime_UTR_variant,,ENST00000531230,,c.-39A>C,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000528716,,,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000534184,,,MODIFIER,,,,-1;SYBU,non_coding_transcript_exon_variant,,ENST00000527664,,n.254A>C,MODIFIER,,,,-1;SYBU,non_coding_transcript_exon_variant,,ENST00000531284,,n.439A>C,MODIFIER,,,,-1","G","ENSG00000147642","ENST00000276646","Transcript","missense_variant","missense_variant","482/3083","319/1992","107/663","S/R","Agt/Cgt","COSV52619536",null,-1,"SYBU","HGNC","HGNC:26011","protein_coding",null,"CCDS47912.1","ENSP00000276646","Q9NX95.140",null,"UPI00000407AB","Q9NX95-1","NM_001099754.2","NM_001099754.2","P4",null,"tolerated(0.3)","probably_damaging(0.931)","2024-03-07",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR16208;PANTHER:PTHR16208:SF4",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"ATCACTTCCAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3884749;COSM4906488","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SNTB1",6641,"BI","GRCh38","chr8",120693790,120693791,"+","Frame_Shift_Ins","INS","-","-","G","rs762352897",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.689dup","p.Ser231ValfsTer31","p.S231Vfs*31","ENST00000395601","2024-03-08",141,118,22,94,null,null,"SNTB1,frameshift_variant,p.S231Vfs*31,ENST00000395601,,c.689dup,HIGH,YES,,,-1;SNTB1,frameshift_variant,p.S231Vfs*31,ENST00000517992,NM_021021.4,c.689dup,HIGH,,,,-1;SNTB1,non_coding_transcript_exon_variant,,ENST00000519177,,n.409dup,MODIFIER,,,,-1;SNTB1,non_coding_transcript_exon_variant,,ENST00000519298,,n.118dup,MODIFIER,,,,-1;SNTB1,frameshift_variant,p.S231Vfs*31,ENST00000648490,,c.689dup,HIGH,,,,-1","G","ENSG00000172164","ENST00000395601","Transcript","frameshift_variant","frameshift_variant","1104-1105/5164","689-690/1617","230/538","P/PX","ccg/ccCg","rs762352897",null,-1,"SNTB1","HGNC","HGNC:11168","protein_coding","YES","CCDS6334.1","ENSP00000378965","Q13884.177",null,"UPI0000135B20","Q13884-1",null,null,"P1",{"$nulls":3},"2024-03-08",null,"Gene3D:2.30.29.30;PROSITE_profiles:PS50003;PANTHER:PTHR10554;PANTHER:PTHR10554:SF11;SMART:SM00233;Superfamily:SSF50729;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"7.971e-06",0,0,0,0,0,"1.761e-05",0,0,"1.761e-05","gnomAD_NFE","2.028400012932252e-05",0,0,0,0,0,0,0,"4.6302000555442646e-05",0,0,"4.6302000555442646e-05","nfe",{"$nulls":9},"HIGH",1,"insertion",5,{"$nulls":3},"GATGACGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4612832","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZHX2",22882,"BI","GRCh38","chr8",122952282,122952282,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.772G>A","p.Val258Ile","p.V258I","ENST00000314393","2024-03-04",212,155,57,176,null,null,"ZHX2,missense_variant,p.V258I,ENST00000314393,NM_001362797.2&NM_014943.5,c.772G>A,MODERATE,YES,tolerated(0.58),benign(0.152),1;ZHX2,downstream_gene_variant,,ENST00000534247,,,MODIFIER,,,,1","A","ENSG00000178764","ENST00000314393","Transcript","missense_variant","missense_variant","1346/4361","772/2514","258/837","V/I","Gtc/Atc","COSV58714190",null,1,"ZHX2","HGNC","HGNC:18513","protein_coding","YES","CCDS6336.1","ENSP00000314709","Q9Y6X8.173",null,"UPI0000073CCB",null,"NM_001362797.2;NM_014943.5","NM_014943.5","P1",null,"tolerated(0.58)","benign(0.152)","2024-03-04",null,"PANTHER:PTHR15467;PANTHER:PTHR15467:SF5",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCAAGGTCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3896507","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ANXA13",312,"BI","GRCh38","chr8",123695522,123695522,"+","Frame_Shift_Del","DEL","T","T","-","rs759218332",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.451del","p.Ile151SerfsTer20","p.I151Sfs*20","ENST00000419625","2024-06-11",276,212,63,204,null,null,"ANXA13,frameshift_variant,p.I192Sfs*20,ENST00000262219,NM_001003954.3,c.574del,HIGH,YES,,,-1;ANXA13,frameshift_variant,p.I151Sfs*20,ENST00000419625,NM_004306.4,c.451del,HIGH,,,,-1;ANXA13,downstream_gene_variant,,ENST00000520519,,,MODIFIER,,,,-1","-","ENSG00000104537","ENST00000419625","Transcript","frameshift_variant","frameshift_variant","510/1456","451/951","151/316","I/X","Atc/tc","rs759218332",null,-1,"ANXA13","HGNC","HGNC:536","protein_coding",null,"CCDS47917.1","ENSP00000390809","P27216.172",null,"UPI000021055D","P27216-1","NM_004306.4","NM_004306.4","A1",{"$nulls":3},"2024-06-11",null,"Gene3D:1.10.220.10;PDB-ENSP_mappings:6b3i.A;PDB-ENSP_mappings:6b3i.B;PDB-ENSP_mappings:6b3i.C;Pfam:PF00191;PROSITE_patterns:PS00223;PROSITE_profiles:PS51897;PANTHER:PTHR10502;PANTHER:PTHR10502:SF175;SMART:SM00335;Superfamily:SSF47874",{"$nulls":8},"1.196e-05",0,"2.901e-05",0,0,0,"1.762e-05",0,0,"2.901e-05","gnomAD_AMR",{"$nulls":22},"HIGH",null,"deletion",1,{"$nulls":3},"CCAGGATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1454676","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TATDN1",83940,"BI","GRCh38","chr8",124488606,124488606,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.882del","p.Pro295LeufsTer19","p.P295Lfs*19","ENST00000276692","2024-12-12",76,64,12,51,null,null,"TATDN1,frameshift_variant,p.P295Lfs*19,ENST00000276692,NM_032026.4,c.882del,HIGH,,,,-1;TATDN1,frameshift_variant,p.P241Lfs*19,ENST00000630259,NM_001317890.1,c.720del,HIGH,,,,-1;TATDN1,frameshift_variant,p.P248Lfs*19,ENST00000519548,NM_001146160.1&NM_001317891.1,c.741del,HIGH,,,,-1;RNF139,3_prime_UTR_variant,,ENST00000303545,NM_007218.4,c.*967del,MODIFIER,YES,,,1;RNF139,downstream_gene_variant,,ENST00000517684,,,MODIFIER,,,,1;TATDN1,downstream_gene_variant,,ENST00000522810,NM_001317889.1,,MODIFIER,YES,,,-1;TATDN1,3_prime_UTR_variant,,ENST00000523214,,c.*370del,MODIFIER,,,,-1;TATDN1,3_prime_UTR_variant,,ENST00000522927,,c.*401del,MODIFIER,,,,-1;TATDN1,non_coding_transcript_exon_variant,,ENST00000523631,,n.1920del,MODIFIER,,,,-1;AC090198.1,non_coding_transcript_exon_variant,,ENST00000518639,,n.102del,MODIFIER,YES,,,1","-","ENSG00000147687","ENST00000276692","Transcript","frameshift_variant","frameshift_variant","921/1029","882/894","294/297","F/X","ttT/tt",null,null,-1,"TATDN1","HGNC","HGNC:24220","protein_coding",null,"CCDS6351.1","ENSP00000276692","Q6P1N9.118",null,"UPI000006F5CF","Q6P1N9-1","NM_032026.4","NM_032026.4","P1",{"$nulls":3},"2024-12-12",null,"PDB-ENSP_mappings:2xio.A;CDD:cd01310;PANTHER:PTHR10060;PANTHER:PTHR10060:SF44;PIRSF:PIRSF005902;Gene3D:3.20.20.140;Superfamily:SSF51556",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"TCCAGGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["KCNQ3",3786,"BI","GRCh38","chr8",132137986,132137986,"+","Frame_Shift_Del","DEL","T","T","-","rs762289015",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1599del","p.Lys533AsnfsTer6","p.K533Nfs*6","ENST00000388996","2024-12-15",171,123,48,130,null,null,"KCNQ3,frameshift_variant,p.K533Nfs*6,ENST00000388996,NM_004519.4,c.1599del,HIGH,YES,,,-1;KCNQ3,frameshift_variant,p.K412Nfs*6,ENST00000621976,,c.1236del,HIGH,,,,-1;KCNQ3,frameshift_variant,p.K533Nfs*6,ENST00000519445,,c.1599del,HIGH,,,,-1;KCNQ3,frameshift_variant,p.K413Nfs*6,ENST00000521134,NM_001204824.1,c.1239del,HIGH,,,,-1;KCNQ3,frameshift_variant,p.K424Nfs*6,ENST00000638588,,c.1272del,HIGH,,,,-1;KCNQ3,3_prime_UTR_variant,,ENST00000639496,,c.*223del,MODIFIER,,,,-1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,,n.2327del,MODIFIER,,,,-1","-","ENSG00000184156","ENST00000388996","Transcript","frameshift_variant","frameshift_variant","2162/11583","1599/2619","533/872","K/X","aaA/aa","rs762289015;COSV101196388",null,-1,"KCNQ3","HGNC","HGNC:6297","protein_coding","YES","CCDS34943.1","ENSP00000373648","O43525.190",null,"UPI00001279F0","O43525-1","NM_004519.4","NM_004519.4","P2",{"$nulls":3},"2024-12-15",null,"Pfam:PF03520;PANTHER:PTHR11537;PANTHER:PTHR11537:SF5",{"$nulls":8},"3.242e-05",0,0,0,0,0.0003193,"1.772e-05",0,0,0.0003193,"gnomAD_FIN",{"$nulls":13},"uncertain_significance;pathogenic","0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"1;1",1,"CTTGAATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1454918","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ZFAT",57623,"BI","GRCh38","chr8",134602731,134602731,"+","Missense_Mutation","SNP","A","A","G","rs764782858",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.988T>C","p.Tyr330His","p.Y330H","ENST00000377838","2024-06-16",53,40,13,45,null,null,"ZFAT,missense_variant,p.Y318H,ENST00000520727,NM_001289394.2&NM_001029939.4,c.952T>C,MODERATE,,tolerated(0.66),benign(0.007),-1;ZFAT,missense_variant,p.Y330H,ENST00000377838,NM_020863.4,c.988T>C,MODERATE,YES,tolerated(0.66),benign(0.007),-1;ZFAT,missense_variant,p.Y318H,ENST00000429442,,c.952T>C,MODERATE,,tolerated(0.61),benign(0.015),-1;ZFAT,missense_variant,p.Y318H,ENST00000520214,NM_001167583.3,c.952T>C,MODERATE,,tolerated(0.66),benign(0.007),-1;ZFAT,missense_variant,p.Y318H,ENST00000520356,NM_001174158.2,c.952T>C,MODERATE,,tolerated(0.66),benign(0.026),-1;ZFAT,missense_variant,p.Y268H,ENST00000523399,NM_001174157.2,c.802T>C,MODERATE,,tolerated(0.6),benign(0.01),-1;AC015599.3,downstream_gene_variant,,ENST00000611506,,,MODIFIER,YES,,,1;AC015599.2,downstream_gene_variant,,ENST00000613742,,,MODIFIER,YES,,,1;AC015599.1,downstream_gene_variant,,ENST00000620907,,,MODIFIER,YES,,,1;ZFAT,downstream_gene_variant,,ENST00000523040,,,MODIFIER,,,,-1;ZFAT,missense_variant,p.Y330H,ENST00000523243,,c.988T>C,MODERATE,,tolerated(0.59),benign(0.012),-1;ZFAT,3_prime_UTR_variant,,ENST00000523924,,c.*970T>C,MODIFIER,,,,-1;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,,n.1093T>C,MODIFIER,,,,-1;ZFAT,upstream_gene_variant,,ENST00000519827,,,MODIFIER,,,,-1;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,,,MODIFIER,YES,,,1","G","ENSG00000066827","ENST00000377838","Transcript","missense_variant","missense_variant","1156/4594","988/3732","330/1243","Y/H","Tat/Cat","rs764782858;COSV100914398;COSV64740502",null,-1,"ZFAT","HGNC","HGNC:19899","protein_coding","YES","CCDS47924.1","ENSP00000367069","Q9P243.170",null,"UPI0000210061","Q9P243-1","NM_020863.4","NM_020863.4","A2",null,"tolerated(0.66)","benign(0.007)","2024-06-16",null,"PDB-ENSP_mappings:2rsh.A;PDB-ENSP_mappings:2rsi.A;PDB-ENSP_mappings:2rsj.A;PDB-ENSP_mappings:2ruv.A;PDB-ENSP_mappings:2rv6.A;PDB-ENSP_mappings:2rv7.A;Gene3D:3.30.160.60;PROSITE_patterns:PS00028;PANTHER:PTHR24388;PANTHER:PTHR24388:SF73;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GCAATAGTCGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3897026;COSM3897027","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC45A4",57210,"BI","GRCh38","chr8",141218258,141218258,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1382T>C","p.Met461Thr","p.M461T","ENST00000517878","2024-05-09",70,57,12,72,null,null,"SLC45A4,missense_variant,p.M410T,ENST00000519067,NM_001286648.1,c.1229T>C,MODERATE,,tolerated(0.12),benign(0.089),-1;SLC45A4,missense_variant,p.M461T,ENST00000517878,NM_001286646.2,c.1382T>C,MODERATE,YES,deleterious(0.01),benign(0.041),-1;SLC45A4,missense_variant,p.M410T,ENST00000024061,NM_001080431.2,c.1229T>C,MODERATE,,tolerated(0.1),benign(0.125),-1;SLC45A4,downstream_gene_variant,,ENST00000519986,,,MODIFIER,,,,-1;SLC45A4,downstream_gene_variant,,ENST00000520137,,,MODIFIER,,,,-1","G","ENSG00000022567","ENST00000517878","Transcript","missense_variant","missense_variant","1975/7418","1382/2427","461/808","M/T","aTg/aCg","COSV50142715",null,-1,"SLC45A4","HGNC","HGNC:29196","protein_coding","YES","CCDS75795.1","ENSP00000428137",null,"E7EV90.62","UPI0001E8F5C7",null,"NM_001286646.2","NM_001286646.2",null,null,"deleterious(0.01)","benign(0.041)","2024-05-09",null,"PANTHER:PTHR19432;PANTHER:PTHR19432:SF7;Superfamily:SSF103473;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTGCATGTCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3897237;COSM4906485","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PTP4A3",11156,"BI","GRCh38","chr8",141426961,141426961,"+","Missense_Mutation","SNP","C","C","T","rs941573806",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.221C>T","p.Ala74Val","p.A74V","ENST00000329397","2024-03-05",324,256,66,290,null,null,"PTP4A3,missense_variant,p.A74V,ENST00000521578,NM_032611.3,c.221C>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.675),1;PTP4A3,missense_variant,p.A74V,ENST00000329397,,c.221C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.675),1;PTP4A3,missense_variant,p.A74V,ENST00000349124,NM_007079.3,c.221C>T,MODERATE,,deleterious(0.02),probably_damaging(0.994),1;PTP4A3,missense_variant,p.A74V,ENST00000520105,,c.221C>T,MODERATE,,deleterious(0.02),probably_damaging(0.994),1;PTP4A3,intron_variant,,ENST00000524028,,c.106-823C>T,MODIFIER,,,,1;PTP4A3,downstream_gene_variant,,ENST00000523147,,,MODIFIER,,,,1","T","ENSG00000184489","ENST00000329397","Transcript","missense_variant","missense_variant","1074/2785","221/522","74/173","A/V","gCg/gTg","rs941573806;COSV61472132",null,1,"PTP4A3","HGNC","HGNC:9636","protein_coding",null,"CCDS6383.1","ENSP00000332274","O75365.166",null,"UPI000004981B","O75365-1",null,null,"P1",null,"deleterious(0.02)","possibly_damaging(0.675)","2024-03-05",null,"PDB-ENSP_mappings:1r6h.A;PDB-ENSP_mappings:1v3a.A;PDB-ENSP_mappings:2mbc.A;PDB-ENSP_mappings:5tsr.A;PDB-ENSP_mappings:5tsr.C;Superfamily:SSF52799;SMART:SM00404;Gene3D:3.90.190.10;PANTHER:PTHR23339:SF100;PANTHER:PTHR23339;CDD:cd18535",{"$nulls":8},"1.22e-05",0,"8.69e-05",0,0,0,0,0,0,"8.69e-05","gnomAD_AMR","9.461380250286311e-05",0,0,0.000860698986798524,0,0,0,0,"1.5431100109708495e-05",0,0,0.000860698986798524,"amr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TGGGGCGCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3319965","N","Unknown",{"$nulls":3},"muse;varscan2"]
["ARC",23237,"BI","GRCh38","chr8",142613577,142613577,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.695G>A","p.Gly232Asp","p.G232D","ENST00000356613","2024-01-03",61,48,13,45,null,null,"ARC,missense_variant,p.G232D,ENST00000356613,NM_015193.5,c.695G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.976),-1;ARC,upstream_gene_variant,,ENST00000581404,,,MODIFIER,,,,-1","T","ENSG00000198576","ENST00000356613","Transcript","missense_variant","missense_variant","903/2950","695/1191","232/396","G/D","gGc/gAc","COSV63078863",null,-1,"ARC","HGNC","HGNC:648","protein_coding","YES","CCDS34950.1","ENSP00000349022","Q7LC44.127",null,"UPI0000163B0F",null,"NM_015193.5","NM_015193.5","P1",null,"deleterious(0.01)","probably_damaging(0.976)","2024-01-03",null,"PANTHER:PTHR15962",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGCCGCCCACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3897318","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LYNX1-SLURP2",111188157,"BI","GRCh38","chr8",142764640,142764640,"+","Missense_Mutation","SNP","C","C","T","rs770280004",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.361G>A","p.Ala121Thr","p.A121T","ENST00000615007","2024-05-05",107,80,27,84,null,null,"LYNX1-SLURP2,missense_variant,p.A121T,ENST00000615007,NM_023946.5,c.361G>A,MODERATE,YES,tolerated(0.1),benign(0.132),-1;SLURP2,missense_variant,p.A87T,ENST00000317543,NM_177458.3,c.259G>A,MODERATE,YES,tolerated(0.06),benign(0.267),-1;SLURP2,intron_variant,,ENST00000521396,NM_001356372.2,c.137-53G>A,MODIFIER,,,,-1;LYNX1-SLURP2,intron_variant,,ENST00000523332,,c.*34-53G>A,MODIFIER,,,,-1;AC083841.1,intron_variant,,ENST00000523657,,n.380+1145C>T,MODIFIER,YES,,,1","T","ENSG00000284505","ENST00000615007","Transcript","missense_variant","missense_variant","991/1293","361/396","121/131","A/T","Gct/Act","rs770280004;COSV58186957",null,-1,"LYNX1-SLURP2","HGNC","HGNC:52291","protein_coding","YES","CCDS34951.1","ENSP00000479586",null,null,"UPI0000168665",null,"NM_023946.5",null,"P1",null,"tolerated(0.1)","benign(0.132)","2024-05-05",null,"Gene3D:2.10.60.10;Pfam:PF00021;PANTHER:PTHR16983;PANTHER:PTHR16983:SF14;Superfamily:SSF57302;CDD:cd00117",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCAAGCGATGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3897326;COSM3897327","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLEC",5339,"BI","GRCh38","chr8",143918972,143918972,"+","Missense_Mutation","SNP","G","G","A","rs781877026",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.11260C>T","p.Arg3754Cys","p.R3754C","ENST00000322810","32/32",128,99,28,105,null,null,"PLEC,missense_variant,p.R3754C,ENST00000322810,NM_201380.4,c.11260C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;PLEC,missense_variant,p.R3617C,ENST00000345136,NM_201384.3,c.10849C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3644C,ENST00000436759,NM_000445.5,c.10930C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3595C,ENST00000354958,NM_201379.3,c.10783C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3617C,ENST00000354589,NM_201382.4,c.10849C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3621C,ENST00000357649,NM_201383.3,c.10861C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3603C,ENST00000356346,NM_201378.4,c.10807C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3585C,ENST00000398774,NM_201381.3,c.10753C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R3640C,ENST00000527096,,c.10918C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLEC,missense_variant,p.R2517C,ENST00000527303,,c.7549C>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),-1","A","ENSG00000178209","ENST00000322810","Transcript","missense_variant","missense_variant","11430/15249","11260/14055","3754/4684","R/C","Cgc/Tgc","rs781877026;COSV59636573",null,-1,"PLEC","HGNC","HGNC:9069","protein_coding","YES","CCDS43772.1","ENSP00000323856","Q15149.229",null,"UPI0000233FCD","Q15149-1","NM_201380.4",null,"P1",null,"deleterious(0)","probably_damaging(0.996)","32/32",null,"PANTHER:PTHR23169;PANTHER:PTHR23169:SF20",{"$nulls":8},"2.429e-05",1.294E-4,0,0,0,"5.109e-05","8.863e-06",0.0001659,"3.268e-05",0.0001659,"gnomAD_OTH","3.380070120329037e-05","7.29395032976754e-05",0,"6.624269735766575e-05",0,0,0,0,0,0.000495049986056983,0,"7.29395032976754e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CATGCGTTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3897709;COSM3897710;COSM3897711;COSM3897712;COSM3897713;COSM3897714;COSM4906489","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VPS28",51160,"BI","GRCh38","chr8",144424226,144424226,"+","Missense_Mutation","SNP","C","C","T","rs782009994",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.445G>A","p.Ala149Thr","p.A149T","ENST00000292510","2024-08-10",89,72,17,90,null,null,"VPS28,missense_variant,p.A149T,ENST00000377348,NM_183057.2,c.445G>A,MODERATE,YES,tolerated(0.07),benign(0.141),-1;VPS28,missense_variant,p.A149T,ENST00000529182,,c.445G>A,MODERATE,,tolerated(0.07),benign(0.141),-1;VPS28,missense_variant,p.A149T,ENST00000292510,NM_016208.4,c.445G>A,MODERATE,,tolerated(0.08),benign(0.021),-1;VPS28,missense_variant,p.A149T,ENST00000526054,,c.445G>A,MODERATE,,tolerated(0.08),benign(0.021),-1;VPS28,missense_variant,p.A132T,ENST00000533806,,c.394G>A,MODERATE,,tolerated(0.06),benign(0.021),-1;VPS28,missense_variant,p.A149T,ENST00000531032,,c.445G>A,MODERATE,,tolerated(0.06),benign(0.021),-1;TONSL,downstream_gene_variant,,ENST00000409379,NM_013432.5,,MODIFIER,YES,,,-1;VPS28,downstream_gene_variant,,ENST00000530790,,,MODIFIER,,,,-1;VPS28,downstream_gene_variant,,ENST00000524521,,,MODIFIER,,,,-1;VPS28,downstream_gene_variant,,ENST00000526734,,,MODIFIER,,,,-1;VPS28,3_prime_UTR_variant,,ENST00000526204,,c.*1568G>A,MODIFIER,,,,-1;VPS28,3_prime_UTR_variant,,ENST00000530836,,c.*1072G>A,MODIFIER,,,,-1;VPS28,non_coding_transcript_exon_variant,,ENST00000530983,,n.1932G>A,MODIFIER,,,,-1;VPS28,non_coding_transcript_exon_variant,,ENST00000526977,,n.1427G>A,MODIFIER,,,,-1;VPS28,non_coding_transcript_exon_variant,,ENST00000528142,,n.1299G>A,MODIFIER,,,,-1;VPS28,non_coding_transcript_exon_variant,,ENST00000527797,,n.1255G>A,MODIFIER,,,,-1;TONSL,downstream_gene_variant,,ENST00000497613,,,MODIFIER,,,,-1;VPS28,downstream_gene_variant,,ENST00000531924,,,MODIFIER,,,,-1","T","ENSG00000160948","ENST00000292510","Transcript","missense_variant","missense_variant","539/948","445/666","149/221","A/T","Gcc/Acc","rs782009994;COSV52872397",null,-1,"VPS28","HGNC","HGNC:18178","protein_coding",null,"CCDS6425.1","ENSP00000292510","Q9UK41.165","Q548N1.127","UPI0000000B09","Q9UK41-1","NM_016208.4","NM_016208.4","P1",null,"tolerated(0.08)","benign(0.021)","2024-08-10",null,"PROSITE_profiles:PS51310;PANTHER:PTHR12937;PANTHER:PTHR12937:SF0;PIRSF:PIRSF017535;Pfam:PF03997;Gene3D:1.20.120.1130;Superfamily:SSF140427",{"$nulls":8},"4.073e-06",0,0,0,0,0,"9.027e-06",0,0,"9.027e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CATGGCGCGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3898243;COSM3898244","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KANK1",23189,"BI","GRCh38","chr9",730125,730125,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2773C>T","p.Pro925Ser","p.P925S","ENST00000382297","2024-04-12",52,48,4,46,null,null,"KANK1,missense_variant,p.P925S,ENST00000619269,NM_001256877.2,c.2773C>T,MODERATE,YES,tolerated(0.79),benign(0.001),1;KANK1,missense_variant,p.P925S,ENST00000382303,NM_001256876.2,c.2773C>T,MODERATE,,tolerated(0.79),benign(0.001),1;KANK1,missense_variant,p.P925S,ENST00000674102,NM_001354334.1,c.2773C>T,MODERATE,,tolerated(0.79),benign(0.001),1;KANK1,missense_variant,p.P767S,ENST00000382293,NM_001354333.1&NM_001354335.1&NM_001354336.1&NM_001354337.1&NM_001354339.1&NM_001354338.1&NM_001354340.1&NM_001354341.1&NM_001354343.1&NM_153186.5&NM_001354342.1&NM_001354344.1,c.2299C>T,MODERATE,,tolerated(0.78),benign(0.001),1;KANK1,missense_variant,p.P925S,ENST00000382297,NM_001354331.1&NM_001354332.1&NM_015158.5,c.2773C>T,MODERATE,,tolerated(0.79),benign(0.001),1;KANK1,upstream_gene_variant,,ENST00000382286,,,MODIFIER,,,,1;KANK1,upstream_gene_variant,,ENST00000382289,,,MODIFIER,,,,1;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,,n.2909C>T,MODIFIER,,,,1;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,,n.2908C>T,MODIFIER,,,,1","T","ENSG00000107104","ENST00000382297","Transcript","missense_variant","missense_variant","2916/5070","2773/4059","925/1352","P/S","Cct/Tct","COSV63213013",null,1,"KANK1","HGNC","HGNC:19309","protein_coding",null,"CCDS34976.1","ENSP00000371734","Q14678.171",null,"UPI00001AF26E","Q14678-1","NM_001354331.1;NM_001354332.1;NM_015158.5","NM_015158.5","P1",null,"tolerated(0.79)","benign(0.001)","2024-04-12",null,"PANTHER:PTHR24168;PANTHER:PTHR24168:SF19;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CCCAGCCTGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3907768;COSM3907769;COSM3907770","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MYORG",57462,"BI","GRCh38","chr9",34372399,34372399,"+","Missense_Mutation","SNP","G","G","A","rs556518887",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.545C>T","p.Ala182Val","p.A182V","ENST00000297625","2024-02-02",12,8,4,9,null,null,"MYORG,missense_variant,p.A182V,ENST00000297625,NM_020702.5,c.545C>T,MODERATE,YES,tolerated(0.29),benign(0.003),-1;MYORG,intron_variant,,ENST00000379142,,c.217-68C>T,MODIFIER,,,,-1","A","ENSG00000164976","ENST00000297625","Transcript","missense_variant","missense_variant","714/6447","545/2145","182/714","A/V","gCg/gTg","rs556518887;COSV52627510",null,-1,"MYORG","HGNC","HGNC:19918","protein_coding","YES","CCDS78391.1","ENSP00000297625","Q6NSJ0.126",null,"UPI0001588862",null,"NM_020702.5","NM_020702.5","P1",null,"tolerated(0.29)","benign(0.003)","2024-02-02",null,"PANTHER:PTHR43053:SF4;PANTHER:PTHR43053",0.0002,0,0,0,1E-3,0,null,null,"1.052e-05",0,0,0,0,0,"2.501e-05",0,0,1E-3,"EUR","6.76023000778514e-06",0,0,0,0,0,0,0,"1.5436400644830428e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGGCCGCCGCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3907011","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TRPM3",80036,"BI","GRCh38","chr9",70635212,70635212,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1637del","p.Lys546SerfsTer24","p.K546Sfs*24","ENST00000357533","2024-12-25",77,50,27,77,null,null,"TRPM3,frameshift_variant,p.K515Sfs*24,ENST00000677713,NM_001366149.2&NM_001366145.2&NM_001366147.2,c.1544del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K515Rfs*12,ENST00000377110,NM_001366141.2&NM_001007471.4,c.1544del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K416Rfs*12,ENST00000360823,NM_206944.5&NM_206947.4,c.1247del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K391Sfs*24,ENST00000377105,NM_024971.6,c.1172del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K546Sfs*24,ENST00000357533,NM_001366142.2,c.1637del,HIGH,YES,,,-1;TRPM3,frameshift_variant,p.K416Rfs*12,ENST00000396292,NM_206946.5,c.1247del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K416Rfs*12,ENST00000358082,,c.1247del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K391Rfs*12,ENST00000396285,NM_020952.6,c.1172del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K391Sfs*24,ENST00000408909,,c.1172del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K391Sfs*24,ENST00000396280,NM_206945.5,c.1172del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K515Rfs*12,ENST00000377111,NM_001366143.2&NM_001366150.2&NM_001366151.2&NM_001366146.2&NM_001366148.2&NM_001366152.2,c.1544del,HIGH,,,,-1;TRPM3,frameshift_variant,p.K391Sfs*24,ENST00000677594,NM_001366154.2,c.1172del,HIGH,,,,-1","-","ENSG00000083067","ENST00000357533","Transcript","frameshift_variant","frameshift_variant;splice_region_variant","1637/5145","1637/5136","546/1711","K/X","aAg/ag",null,null,-1,"TRPM3","HGNC","HGNC:17992","protein_coding","YES",null,"ENSP00000350140",null,"A2A3F7.94","UPI000066DA55",null,"NM_001366142.2",null,"A2",{"$nulls":3},"2024-12-25",null,"PANTHER:PTHR13800;PANTHER:PTHR13800:SF7",{"$nulls":41},"HIGH",1,"deletion",5,null,null,1,"CTTACCTTTTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TMC1",117531,"BI","GRCh38","chr9",72792287,72792287,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1501C>T","p.Pro501Ser","p.P501S","ENST00000297784","17/24",267,192,75,346,null,null,"TMC1,missense_variant,p.P501S,ENST00000297784,NM_138691.3,c.1501C>T,MODERATE,YES,tolerated(0.14),benign(0.132),1;TMC1,missense_variant,p.P501S,ENST00000645208,,c.1501C>T,MODERATE,,tolerated(0.14),benign(0.132),1;TMC1,missense_variant,p.P355S,ENST00000651183,,c.1063C>T,MODERATE,,tolerated(0.16),benign(0.01),1;TMC1,missense_variant,p.P501S,ENST00000340019,,c.1501C>T,MODERATE,,tolerated(0.14),benign(0.132),1;TMC1,missense_variant,p.P459S,ENST00000645773,,c.1375C>T,MODERATE,,tolerated(0.15),benign(0.003),1;TMC1,missense_variant,p.P355S,ENST00000646619,,c.1063C>T,MODERATE,,tolerated(0.17),benign(0.015),1;TMC1,non_coding_transcript_exon_variant,,ENST00000645787,,n.1541C>T,MODIFIER,,,,1;TMC1,missense_variant,p.P355S,ENST00000645053,,c.1063C>T,MODERATE,,tolerated(0.17),benign(0.003),1;TMC1,missense_variant,p.P355S,ENST00000644967,,c.1063C>T,MODERATE,,tolerated(0.16),benign(0.132),1;TMC1,missense_variant,p.P43S,ENST00000486417,,c.127C>T,MODERATE,,tolerated(0.09),benign(0.007),1;TMC1,non_coding_transcript_exon_variant,,ENST00000650689,,n.1799C>T,MODIFIER,,,,1","T","ENSG00000165091","ENST00000297784","Transcript","missense_variant","missense_variant","2234/5340","1501/2283","501/760","P/S","Cca/Tca","COSV52777730",null,1,"TMC1","HGNC","HGNC:16513","protein_coding","YES","CCDS6643.1","ENSP00000297784","Q8TDI8.137",null,"UPI0000161FA9",null,"NM_138691.3","NM_138691.3","P2",null,"tolerated(0.14)","benign(0.132)","17/24",null,"PANTHER:PTHR23302;PANTHER:PTHR23302:SF18",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTGGACCACCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3907920","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PHF2",5253,"BI","GRCh38","chr9",93660330,93660330,"+","Frame_Shift_Del","DEL","A","A","-","rs769717544",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1475del","p.Lys492ArgfsTer6","p.K492Rfs*6","ENST00000359246","2024-12-22",18,12,6,22,null,null,"PHF2,frameshift_variant,p.K492Rfs*6,ENST00000359246,NM_005392.4,c.1475del,HIGH,YES,,,1;PHF2,intron_variant,,ENST00000375376,,c.192+7065del,MODIFIER,,,,1;PHF2,intron_variant,,ENST00000610682,,c.240-13443del,MODIFIER,,,,1","-","ENSG00000197724","ENST00000359246","Transcript","frameshift_variant","frameshift_variant","1658/5392","1468/3291","490/1096","K/X","Aaa/aa","rs769717544",null,1,"PHF2","HGNC","HGNC:8920","protein_coding","YES","CCDS35069.1","ENSP00000352185","O75151.155",null,"UPI0000211A97",null,"NM_005392.4","NM_005392.4","P1",{"$nulls":3},"2024-12-22",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR23123;PANTHER:PTHR23123:SF14",{"$nulls":8},1.683E-4,"7.313e-05",0.0002202,0.0002134,2.387E-4,0,1.884E-4,0.0001792,0.0001441,2.387E-4,"gnomAD_EAS",{"$nulls":22},"HIGH",1,"deletion",1,7,null,null,"GTGTCCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM198796","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["FKTN",2218,"BI","GRCh38","chr9",105607940,105607940,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.769G>T","p.Ala257Ser","p.A257S","ENST00000223528","2024-06-10",61,40,21,88,null,null,"FKTN,missense_variant,p.A257S,ENST00000357998,NM_001351502.2&NM_001351497.2&NM_001351499.2&NM_001351496.2&NM_001351500.2&NM_001079802.2,c.769G>T,MODERATE,YES,tolerated(0.6),benign(0),1;FKTN,missense_variant,p.A257S,ENST00000223528,NM_006731.2&NM_001351501.2&NM_001351498.2,c.769G>T,MODERATE,,tolerated(0.6),benign(0),1;FKTN,missense_variant,p.A257S,ENST00000675668,,c.769G>T,MODERATE,,tolerated(0.61),benign(0.042),1;FKTN,missense_variant,p.A257S,ENST00000676310,,c.769G>T,MODERATE,,tolerated(0.61),benign(0.042),1;FKTN,missense_variant,p.A257S,ENST00000674633,,c.769G>T,MODERATE,,tolerated(0.68),benign(0.015),1;FKTN,missense_variant,p.A257S,ENST00000448551,NM_001198963.2,c.769G>T,MODERATE,,tolerated(0.68),benign(0.366),1;FKTN,missense_variant,p.A257S,ENST00000675695,,c.769G>T,MODERATE,,tolerated(0.34),benign(0.053),1;FKTN,missense_variant,p.A257S,ENST00000674563,,c.769G>T,MODERATE,,tolerated(0.63),benign(0.077),1;FKTN,missense_variant,p.A257S,ENST00000642177,,c.769G>T,MODERATE,,tolerated(0.63),benign(0.077),1;FKTN,3_prime_UTR_variant,,ENST00000675736,,c.*377G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000602526,,c.*807G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000675232,,c.*904G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000676192,,c.*689G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000602661,,c.*377G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000675443,,c.*377G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000642952,,c.*767G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000642537,,c.*631G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000645933,,c.*767G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000642644,,c.*892G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000676371,,c.*576G>T,MODIFIER,,,,1;FKTN,3_prime_UTR_variant,,ENST00000374705,,c.*696G>T,MODIFIER,,,,1;FKTN,non_coding_transcript_exon_variant,,ENST00000676011,,n.1936G>T,MODIFIER,,,,1","T","ENSG00000106692","ENST00000223528","Transcript","missense_variant","missense_variant","893/7364","769/1386","257/461","A/S","Gca/Tca","COSV56310192",null,1,"FKTN","HGNC","HGNC:3622","protein_coding",null,"CCDS6766.1","ENSP00000223528","O75072.161",null,"UPI000012A5A6","O75072-1","NM_006731.2;NM_001351501.2;NM_001351498.2",null,"P1",null,"tolerated(0.6)","benign(0)","2024-06-10",null,"PANTHER:PTHR15407:SF28;PANTHER:PTHR15407",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CTCGAGCATTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3902756;COSM3902757","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PALM2AKAP2",445815,"BI","GRCh38","chr9",109942771,109942771,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.490del","p.Val164SerfsTer15","p.V164Sfs*15","ENST00000374531","2024-07-07",44,30,14,48,null,null,"PALM2AKAP2,frameshift_variant,p.V196Sfs*15,ENST00000314527,NM_053016.6,c.586del,HIGH,,,,1;PALM2AKAP2,frameshift_variant,p.V164Sfs*15,ENST00000374531,NM_001037293.2,c.490del,HIGH,,,,1;PALM2AKAP2,frameshift_variant,p.V162Sfs*15,ENST00000483909,,c.484del,HIGH,,,,1;PALM2AKAP2,frameshift_variant,p.V196Sfs*15,ENST00000413420,,c.586del,HIGH,,,,1;PALM2AKAP2,frameshift_variant,,ENST00000497711,,,HIGH,,,,1;PALM2AKAP2,intron_variant,,ENST00000302798,NM_147150.3,c.496+10747del,MODIFIER,,,,1;PALM2AKAP2,intron_variant,,ENST00000374530,NM_007203.5,c.496+10747del,MODIFIER,YES,,,1","-","ENSG00000157654","ENST00000374531","Transcript","frameshift_variant","frameshift_variant","560/4492","486/1140","162/379","E/X","gaG/ga",null,null,1,"PALM2AKAP2","HGNC","HGNC:33529","protein_coding",null,"CCDS35099.1","ENSP00000363656","Q8IXS6.121",null,"UPI0000458813",null,"NM_001037293.2",{"$nulls":5},"2024-07-07",null,"Pfam:PF03285;PANTHER:PTHR10498;PANTHER:PTHR10498:SF21",{"$nulls":41},"HIGH",null,"deletion",1,4,null,null,"CCCAGAGGGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZFP37",7539,"BI","GRCh38","chr9",113044136,113044136,"+","Frame_Shift_Del","DEL","T","T","-","rs563751025",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.482del","p.Asn161IlefsTer24","p.N161Ifs*24","ENST00000374227","2024-04-04",76,44,31,71,null,null,"ZFP37,frameshift_variant,p.N161Ifs*24,ENST00000374227,NM_003408.3,c.482del,HIGH,,,,-1;ZFP37,frameshift_variant,p.N162Ifs*24,ENST00000555206,NM_001282518.2,c.485del,HIGH,,,,-1;ZFP37,frameshift_variant,p.N176Ifs*24,ENST00000553380,NM_001282515.2,c.527del,HIGH,YES,,,-1;ZNF883,intron_variant,,ENST00000619044,NM_001101338.1,c.-879+5875del,MODIFIER,YES,,,-1","-","ENSG00000136866","ENST00000374227","Transcript","frameshift_variant","frameshift_variant","518/6277","482/1893","161/630","N/X","aAt/at","rs563751025",null,-1,"ZFP37","HGNC","HGNC:12863","protein_coding",null,"CCDS6787.1","ENSP00000363344","Q9Y6Q3.176",null,"UPI000013D04B","Q9Y6Q3-1","NM_003408.3","NM_003408.3",{"$nulls":4},"2024-04-04",null,"PANTHER:PTHR24381;PANTHER:PTHR24381:SF147;MobiDB_lite:mobidb-lite",{"$nulls":8},"3.664e-05",0,"8.942e-05",0,"5.515e-05","4.688e-05","1.789e-05",0,"6.869e-05","8.942e-05","gnomAD_AMR","1.3543700333684683e-05",0,0,0,0,0,0,0,"1.5449699276359752e-05",0.000496523978654295,0,{"$nulls":11},"HIGH",null,"deletion",1,{"$nulls":3},"AAATTATTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1241918;COSM4338837","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TNC",3371,"BI","GRCh38","chr9",115063922,115063922,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3634A>G","p.Thr1212Ala","p.T1212A","ENST00000350763","2024-12-28",122,86,36,113,null,null,"TNC,missense_variant,p.T1212A,ENST00000350763,NM_002160.4,c.3634A>G,MODERATE,YES,deleterious(0.03),possibly_damaging(0.654),-1;TNC,missense_variant,p.T1212A,ENST00000341037,,c.3634A>G,MODERATE,,tolerated(0.07),possibly_damaging(0.597),-1;TNC,missense_variant,p.T1212A,ENST00000423613,,c.3634A>G,MODERATE,,tolerated(0.06),possibly_damaging(0.823),-1;TNC,intron_variant,,ENST00000535648,,c.3215-6497A>G,MODIFIER,,,,-1;TNC,intron_variant,,ENST00000537320,,c.3214+9681A>G,MODIFIER,,,,-1;TNC,intron_variant,,ENST00000542877,,c.3215-6497A>G,MODIFIER,,,,-1;TNC,intron_variant,,ENST00000544972,,c.266+725A>G,MODIFIER,,,,-1;TNC,upstream_gene_variant,,ENST00000635336,,,MODIFIER,,,,-1;TNC,intron_variant,,ENST00000473855,,n.170+9681A>G,MODIFIER,,,,-1;TNC,intron_variant,,ENST00000498724,,n.39+9681A>G,MODIFIER,,,,-1;TNC,upstream_gene_variant,,ENST00000476680,,,MODIFIER,,,,-1;DELEC1,intron_variant,,ENST00000648852,,n.277-5074T>C,MODIFIER,,,,1;DELEC1,intron_variant,,ENST00000649121,,n.79-20333T>C,MODIFIER,,,,1","C","ENSG00000041982","ENST00000350763","Transcript","missense_variant","missense_variant","3946/8500","3634/6606","1212/2201","T/A","Acc/Gcc","COSV60786053",null,-1,"TNC","HGNC","HGNC:5318","protein_coding","YES","CCDS6811.1","ENSP00000265131","P24821.224",null,"UPI000013D5BD","P24821-1","NM_002160.4","NM_002160.4","P1",null,"deleterious(0.03)","possibly_damaging(0.654)","2024-12-28",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR46708;PANTHER:PTHR46708:SF1;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GACGGTGAGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3903442","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RABGAP1",23637,"BI","GRCh38","chr9",123098762,123098763,"+","Frame_Shift_Ins","INS","-","-","A","rs749213218",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2789dup","p.Asn930LysfsTer7","p.N930Kfs*7","ENST00000373647","23/26",64,39,25,72,null,null,"RABGAP1,frameshift_variant,p.N930Kfs*7,ENST00000373647,NM_012197.4,c.2789dup,HIGH,YES,,,1;RABGAP1,3_prime_UTR_variant,,ENST00000456584,,c.*1015dup,MODIFIER,,,,1;RABGAP1,downstream_gene_variant,,ENST00000480054,,,MODIFIER,,,,1","A","ENSG00000011454","ENST00000373647","Transcript","frameshift_variant","frameshift_variant","2904-2905/4986","2781-2782/3210","927-928/1069","-/X","-/A","rs749213218",null,1,"RABGAP1","HGNC","HGNC:17155","protein_coding","YES","CCDS6848.2","ENSP00000362751","Q9Y3P9.164",null,"UPI00000373F8","Q9Y3P9-1","NM_012197.4","NM_012197.4","P1",{"$nulls":3},"23/26",null,"PANTHER:PTHR22957;PANTHER:PTHR22957:SF439",{"$nulls":8},"4.02e-06",0,0,0,0,0,0,0,"3.316e-05","3.316e-05","gnomAD_SAS",{"$nulls":22},"HIGH",1,"insertion",1,8,null,null,"GAGATTAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1459918;COSM1459919","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PTPA",5524,"BI","GRCh38","chr9",129123125,129123125,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.203A>G","p.Tyr68Cys","p.Y68C","ENST00000337738","2024-03-11",166,104,62,125,null,null,"PTPA,missense_variant,p.Y68C,ENST00000337738,NM_178001.2,c.203A>G,MODERATE,YES,deleterious(0.03),benign(0),1;PTPA,missense_variant,p.Y74C,ENST00000348141,,c.221A>G,MODERATE,,tolerated(0.26),benign(0.006),1;PTPA,missense_variant,p.Y68C,ENST00000358994,NM_021131.5,c.203A>G,MODERATE,,tolerated(0.27),benign(0.003),1;PTPA,missense_variant,p.Y68C,ENST00000393370,NM_178000.3,c.203A>G,MODERATE,,tolerated(0.27),benign(0.003),1;PTPA,missense_variant,p.Y33C,ENST00000452489,NM_001193397.1,c.98A>G,MODERATE,,tolerated(0.28),benign(0.003),1;PTPA,missense_variant,p.Y68C,ENST00000355007,NM_178003.3,c.203A>G,MODERATE,,tolerated(0.19),benign(0.009),1;PTPA,missense_variant,p.Y33C,ENST00000417728,,c.98A>G,MODERATE,,tolerated(0.28),benign(0.005),1;PTPA,missense_variant,p.Y68C,ENST00000445241,,c.203A>G,MODERATE,,deleterious(0.03),benign(0),1;PTPA,missense_variant,p.Y68C,ENST00000455292,,c.203A>G,MODERATE,,deleterious(0.03),benign(0),1;PTPA,missense_variant,p.Y91C,ENST00000417504,,c.272A>G,MODERATE,,tolerated(0.3),benign(0.024),1;PTPA,missense_variant,p.Y33C,ENST00000453358,,c.98A>G,MODERATE,,tolerated(0.29),benign(0.003),1;PTPA,missense_variant,p.Y33C,ENST00000440346,,c.98A>G,MODERATE,,tolerated(0.34),benign(0.011),1;PTPA,5_prime_UTR_variant,,ENST00000414331,,c.-14A>G,MODIFIER,,,,1;PTPA,intron_variant,,ENST00000347048,,c.129+2515A>G,MODIFIER,,,,1;PTPA,intron_variant,,ENST00000357197,NM_001271832.1,c.129+2515A>G,MODIFIER,,,,1","G","ENSG00000119383","ENST00000337738","Transcript","missense_variant","missense_variant","490/2845","203/1077","68/358","Y/C","tAc/tGc","COSV61234485",null,1,"PTPA","HGNC","HGNC:9308","protein_coding","YES",null,"ENSP00000337448","Q15257.183",null,"UPI000013D6D5","Q15257-1","NM_178001.2",{"$nulls":3},"deleterious(0.03)","benign(0)","2024-03-11",null,"PDB-ENSP_mappings:2g62.A;PDB-ENSP_mappings:2hv6.A;PDB-ENSP_mappings:2hv6.B;PDB-ENSP_mappings:2hv7.A;PDB-ENSP_mappings:2hv7.B;PDB-ENSP_mappings:2hv7.C;PDB-ENSP_mappings:2hv7.D;PDB-ENSP_mappings:2hv7.E;PDB-ENSP_mappings:2hv7.F;PDB-ENSP_mappings:2hv7.G;PDB-ENSP_mappings:2hv7.H;PDB-ENSP_mappings:2ixm.A;PDB-ENSP_mappings:4lac.B;PDB-ENSP_mappings:4ny3.A;PDB-ENSP_mappings:4ny3.B;CDD:cd04087;PANTHER:PTHR10012:SF0;PANTHER:PTHR10012;PIRSF:PIRSF016325;Pfam:PF03095;Superfamily:SSF140984",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"CGAGTACAGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3904675","N","Unknown",{"$nulls":3},"muse;varscan2"]
["ASS1",445,"BI","GRCh38","chr9",130464153,130464154,"+","Frame_Shift_Ins","INS","-","-","C","rs1554983717",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.412dup","p.Gln138ProfsTer12","p.Q138Pfs*12","ENST00000352480","2024-05-15",69,50,19,98,null,null,"ASS1,frameshift_variant,p.Q138Pfs*12,ENST00000372394,,c.412dup,HIGH,YES,,,1;ASS1,frameshift_variant,p.Q138Pfs*12,ENST00000372393,NM_000050.4,c.412dup,HIGH,,,,1;ASS1,frameshift_variant,p.Q138Pfs*12,ENST00000352480,NM_054012.4,c.412dup,HIGH,,,,1;ASS1,frameshift_variant,p.Q138Pfs*12,ENST00000422569,,c.412dup,HIGH,,,,1;ASS1,intron_variant,,ENST00000443588,,c.364-2566dup,MODIFIER,,,,1;ASS1,non_coding_transcript_exon_variant,,ENST00000467695,,n.121dup,MODIFIER,,,,1;ASS1,upstream_gene_variant,,ENST00000493984,,,MODIFIER,,,,1","C","ENSG00000130707","ENST00000352480","Transcript","frameshift_variant","frameshift_variant","446-447/1532","406-407/1239","136/412","A/AX","gcc/gCcc","rs1554983717",null,1,"ASS1","HGNC","HGNC:758","protein_coding",null,"CCDS6933.1","ENSP00000253004","P00966.222","Q5T6L4.141","UPI00000015D6",null,"NM_054012.4","NM_054012.4","P1",{"$nulls":3},"2024-05-15",null,"PDB-ENSP_mappings:2nz2.A;HAMAP:MF_00005;CDD:cd01999;PANTHER:PTHR11587;PANTHER:PTHR11587:SF5;Gene3D:3.40.50.620;TIGRFAM:TIGR00032;Pfam:PF00764;Superfamily:SSF52402",{"$nulls":32},"likely_pathogenic",{"$nulls":8},"HIGH",null,"insertion",1,6,1,1,"CACTGGCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FCN1",2219,"BI","GRCh38","chr9",134916381,134916381,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.184C>G","p.Pro62Ala","p.P62A","ENST00000371806","2024-02-09",358,241,116,376,null,null,"FCN1,missense_variant,p.P62A,ENST00000371806,NM_002003.5,c.184C>G,MODERATE,,tolerated(0.06),possibly_damaging(0.506),-1;FCN1,missense_variant,p.P62A,ENST00000616356,,c.184C>G,MODERATE,YES,deleterious_low_confidence(0.02),possibly_damaging(0.542),-1","C","ENSG00000085265","ENST00000371806","Transcript","missense_variant","missense_variant","225/7588","184/981","62/326","P/A","Cca/Gca","COSV65662552",null,-1,"FCN1","HGNC","HGNC:3623","protein_coding",null,"CCDS6985.1","ENSP00000360871","O00602.176",null,"UPI000012A5A7",null,"NM_002003.5","NM_002003.5","P1",null,"tolerated(0.06)","possibly_damaging(0.506)","2024-02-09",null,"PANTHER:PTHR19143;PANTHER:PTHR19143:SF337;Pfam:PF01391",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CTTTGGCCCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3905484","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEC16A",9919,"BI","GRCh38","chr9",136456091,136456091,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5626T>C","p.Trp1876Arg","p.W1876R","ENST00000313050","17/30",131,99,32,140,null,null,"SEC16A,missense_variant,p.W1876R,ENST00000290037,NM_001276418.1,c.5626T>C,MODERATE,,deleterious(0),probably_damaging(1),-1;SEC16A,missense_variant,p.W1876R,ENST00000313050,NM_014866.2,c.5626T>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SEC16A,missense_variant,p.W1698R,ENST00000371706,,c.5092T>C,MODERATE,,deleterious(0),probably_damaging(0.984),-1;SEC16A,missense_variant,p.W1698R,ENST00000431893,,c.5092T>C,MODERATE,,deleterious(0),probably_damaging(0.984),-1;SEC16A,missense_variant,p.W598R,ENST00000453963,,c.1792T>C,MODERATE,,deleterious(0),probably_damaging(0.995),-1;SEC16A,missense_variant,p.W270R,ENST00000277537,,c.808T>C,MODERATE,,deleterious(0),probably_damaging(0.991),-1","G","ENSG00000148396","ENST00000313050","Transcript","missense_variant","missense_variant","5700/8806","5626/7074","1876/2357","W/R","Tgg/Cgg","COSV51530560",null,-1,"SEC16A","HGNC","HGNC:29006","protein_coding","YES","CCDS55351.1","ENSP00000325827","O15027.174",null,"UPI0000F0888B","O15027-1","NM_014866.2",null,"P3",null,"deleterious(0)","probably_damaging(1)","17/30",null,"PANTHER:PTHR13402;PANTHER:PTHR13402:SF13",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"CAGCCACGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3905696;COSM3905697","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CELF2",10659,"BI","GRCh38","chr10",11165622,11165622,"+","Missense_Mutation","SNP","G","G","A","rs1202642426",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.190G>A","p.Gly64Arg","p.G64R","ENST00000416382","2024-02-13",41,25,16,42,null,null,"CELF2,missense_variant,p.G40R,ENST00000417956,NM_001326318.2&NM_001326317.2&NM_001326324.2&NM_001326330.2&NM_001326329.2&NM_001326334.2&NM_001326333.2&NM_001326339.2&NM_001326338.2&NM_001326346.1&NM_001025076.2,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G71R,ENST00000542579,NM_001326342.2&NM_001326341.2&NM_006561.3,c.211G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000399850,NM_001326349.1&NM_001326348.1,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G64R,ENST00000416382,NM_001025077.3,c.190G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G64R,ENST00000631460,NM_001326335.2&NM_001326337.2&NM_001326332.2,c.190G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G76R,ENST00000636488,NM_001326325.2&NM_001326326.2,c.226G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000632728,NM_001326345.1,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G76R,ENST00000637215,NM_001326327.2,c.226G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000609692,,c.118G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;CELF2,missense_variant,p.G71R,ENST00000632065,NM_001326343.2&NM_001326340.2,c.211G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000608830,NM_001326344.1&NM_001326347.1&NM_001083591.1,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000638035,NM_001326320.2&NM_001326328.2,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G64R,ENST00000631816,NM_001326336.2&NM_001326331.2,c.190G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000354897,NM_001326323.2&NM_001326319.2&NM_001326321.2,c.118G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G71R,ENST00000633077,,c.211G>A,MODERATE,,deleterious(0),probably_damaging(1),1;CELF2,missense_variant,p.G40R,ENST00000609870,,c.118G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;CELF2,missense_variant,p.G64R,ENST00000633200,,c.190G>A,MODERATE,,deleterious(0),probably_damaging(1),1;AL136320.1,downstream_gene_variant,,ENST00000417273,,,MODIFIER,YES,,,-1","A","ENSG00000048740","ENST00000416382","Transcript","missense_variant","missense_variant","257/6894","190/1527","64/508","G/R","Gga/Aga","rs1202642426;COSV100256705;COSV59973961",null,1,"CELF2","HGNC","HGNC:2550","protein_coding",null,"CCDS44354.1","ENSP00000406451","O95319.157",null,"UPI0000072DD8","O95319-1","NM_001025077.3",null,"A2",null,"deleterious(0)","probably_damaging(1)","2024-02-13",null,"Gene3D:3.30.70.330;PDB-ENSP_mappings:4lmz.A;Pfam:PF00076;PROSITE_profiles:PS50102;PANTHER:PTHR24012;PANTHER:PTHR24012:SF699;SMART:SM00360;Superfamily:SSF54928;CDD:cd12631",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1;1",null,"CTTACGGAGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4011552;COSM4011553","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAM107B",83641,"BI","GRCh38","chr10",14774404,14774404,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.260G>A","p.Gly87Asp","p.G87D","ENST00000181796","2024-01-05",303,200,103,252,null,null,"FAM107B,missense_variant,p.G87D,ENST00000181796,NM_031453.3,c.260G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.967),-1;FAM107B,missense_variant,p.G87D,ENST00000487335,,c.260G>A,MODERATE,,deleterious(0.01),probably_damaging(0.967),-1","T","ENSG00000065809","ENST00000181796","Transcript","missense_variant","missense_variant","494/3785","260/921","87/306","G/D","gGc/gAc","COSV51679373",null,-1,"FAM107B","HGNC","HGNC:23726","protein_coding","YES","CCDS7102.1","ENSP00000181796","Q9H098.125",null,"UPI00001C0E1E","Q9H098-2","NM_031453.3",null,"A2",null,"deleterious_low_confidence(0)","probably_damaging(0.967)","2024-01-05",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR16768;PANTHER:PTHR16768:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"CACTGCCATTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM212317","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EGR2",1959,"BI","GRCh38","chr10",62813443,62813443,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1195G>A","p.Ala399Thr","p.A399T","ENST00000242480","2024-02-02",229,171,58,265,null,null,"EGR2,missense_variant,p.A399T,ENST00000242480,NM_001136177.3&NM_000399.5,c.1195G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.659),-1;EGR2,missense_variant,p.A399T,ENST00000439032,NM_001136178.1,c.1195G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.659),-1;EGR2,missense_variant,p.A349T,ENST00000411732,NM_001321037.2&NM_001136179.3,c.1045G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.659),-1;ADO,downstream_gene_variant,,ENST00000373783,NM_032804.6,,MODIFIER,YES,,,1;EGR2,downstream_gene_variant,,ENST00000637191,,,MODIFIER,,,,-1;EGR2,intron_variant,,ENST00000639815,,n.109-481G>A,MODIFIER,,,,-1;EGR2,downstream_gene_variant,,ENST00000493899,,,MODIFIER,,,,-1","T","ENSG00000122877","ENST00000242480","Transcript","missense_variant","missense_variant","1532/2979","1195/1431","399/476","A/T","Gcc/Acc","COSV54346491",null,-1,"EGR2","HGNC","HGNC:3239","protein_coding","YES","CCDS7267.1","ENSP00000242480","P11161.211",null,"UPI000013CB07","P11161-1","NM_001136177.3;NM_000399.5","NM_000399.5","A2",null,"deleterious(0.02)","possibly_damaging(0.659)","2024-02-02",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_profiles:PS50157;PANTHER:PTHR23235;PANTHER:PTHR23235:SF54;SMART:SM00355;Superfamily:SSF57667",{"$nulls":19},"6.758859854016919e-06",0,0,0,0,0,0,0,"1.543160033179447e-05",0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACAGGCGAAGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM919434","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EGR2",1959,"BI","GRCh38","chr10",62813814,62813814,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.824del","p.Gly275AlafsTer6","p.G275Afs*6","ENST00000242480","2024-02-02",46,36,10,58,null,null,"EGR2,frameshift_variant,p.G275Afs*6,ENST00000242480,NM_001136177.3&NM_000399.5,c.824del,HIGH,YES,,,-1;EGR2,frameshift_variant,p.G275Afs*6,ENST00000439032,NM_001136178.1,c.824del,HIGH,,,,-1;EGR2,frameshift_variant,p.G225Afs*6,ENST00000411732,NM_001321037.2&NM_001136179.3,c.674del,HIGH,,,,-1;EGR2,downstream_gene_variant,,ENST00000637191,,,MODIFIER,,,,-1;EGR2,intron_variant,,ENST00000639815,,n.109-852del,MODIFIER,,,,-1;EGR2,downstream_gene_variant,,ENST00000493899,,,MODIFIER,,,,-1","-","ENSG00000122877","ENST00000242480","Transcript","frameshift_variant","frameshift_variant","1161/2979","824/1431","275/476","G/X","gGc/gc","COSV99653876",null,-1,"EGR2","HGNC","HGNC:3239","protein_coding","YES","CCDS7267.1","ENSP00000242480","P11161.211",null,"UPI000013CB07","P11161-1","NM_001136177.3;NM_000399.5","NM_000399.5","A2",{"$nulls":3},"2024-02-02",null,"PANTHER:PTHR23235;PANTHER:PTHR23235:SF54",{"$nulls":19},"6.760410087736091e-06",0,0,0,0,0.000201693997951224,0,0,0,0,0,{"$nulls":3},1,{"$nulls":7},"HIGH",1,"deletion",1,null,1,1,"CTGGGGCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1348560","N","Unknown",{"$nulls":3},"pindel;varscan2"]
["COL13A1",1305,"BI","GRCh38","chr10",69930521,69930521,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1623del","p.Glu543ArgfsTer51","p.E543Rfs*51","ENST00000398978","29/40",36,23,12,48,null,null,"COL13A1,frameshift_variant,p.E554Rfs*51,ENST00000645393,NM_001368882.1,c.1656del,HIGH,YES,,,1;COL13A1,frameshift_variant,p.E543Rfs*51,ENST00000398978,NM_001130103.2,c.1623del,HIGH,,,,1;COL13A1,frameshift_variant,p.E521Rfs*51,ENST00000354547,NM_080801.4,c.1557del,HIGH,,,,1;COL13A1,frameshift_variant,p.E542Rfs*22,ENST00000357811,NM_001368883.1,c.1620del,HIGH,,,,1;COL13A1,frameshift_variant,p.E525Rfs*22,ENST00000673842,NM_001368895.1,c.1569del,HIGH,,,,1;COL13A1,frameshift_variant,p.E486Rfs*22,ENST00000674121,NM_001368886.1&NM_001368897.1&NM_001368896.1,c.1452del,HIGH,,,,1;COL13A1,frameshift_variant,p.E486Rfs*36,ENST00000520267,NM_001368898.1&NM_080798.4,c.1452del,HIGH,,,,1;COL13A1,frameshift_variant,p.E483Rfs*36,ENST00000398969,,c.1443del,HIGH,,,,1;COL13A1,frameshift_variant,p.E485Rfs*22,ENST00000673628,NM_001368885.1,c.1448del,HIGH,,,,1;COL13A1,frameshift_variant,p.E460Rfs*22,ENST00000673641,,c.1373del,HIGH,,,,1;COL13A1,frameshift_variant,p.E524Rfs*51,ENST00000522165,NM_001320951.2&NM_001368884.1&NM_080800.4,c.1566del,HIGH,,,,1;COL13A1,frameshift_variant,p.E521Rfs*36,ENST00000517713,NM_080802.4,c.1557del,HIGH,,,,1;COL13A1,frameshift_variant,p.E314Rfs*51,ENST00000674050,,c.934del,HIGH,,,,1;COL13A1,frameshift_variant,p.E492Rfs*36,ENST00000520133,NM_080805.4,c.1470del,HIGH,,,,1;COL13A1,frameshift_variant,p.E191Rfs*36,ENST00000673850,,c.566del,HIGH,,,,1;COL13A1,frameshift_variant,p.E88Rfs*36,ENST00000398975,,c.257del,HIGH,,,,1;COL13A1,frameshift_variant,p.E194Rfs*22,ENST00000673931,,c.575del,HIGH,,,,1;COL13A1,frameshift_variant,p.E47Rfs*37,ENST00000673768,,c.135del,HIGH,,,,1;COL13A1,frameshift_variant,p.E27Rfs*36,ENST00000456019,,c.73del,HIGH,,,,1;COL13A1,frameshift_variant,p.E20Rfs*34,ENST00000673977,,c.53del,HIGH,,,,1;COL13A1,downstream_gene_variant,,ENST00000673802,,,MODIFIER,,,,1;COL13A1,upstream_gene_variant,,ENST00000673736,,,MODIFIER,,,,1;COL13A1,frameshift_variant,p.E552Rfs*10,ENST00000479733,,c.1650del,HIGH,,,,1;COL13A1,frameshift_variant,p.E338Rfs*36,ENST00000674124,,c.1008del,HIGH,,,,1;COL13A1,frameshift_variant,p.E21Rfs*36,ENST00000673681,,c.57del,HIGH,,,,1;COL13A1,3_prime_UTR_variant,,ENST00000674040,,c.*983del,MODIFIER,,,,1;COL13A1,3_prime_UTR_variant,,ENST00000674008,,c.*1020del,MODIFIER,,,,1;COL13A1,3_prime_UTR_variant,,ENST00000673957,,c.*562del,MODIFIER,,,,1;COL13A1,3_prime_UTR_variant,,ENST00000673914,,c.*625del,MODIFIER,,,,1","-","ENSG00000197467","ENST00000398978","Transcript","frameshift_variant","frameshift_variant","2137/3115","1619/2154","540/717","E/X","gAa/ga",null,null,1,"COL13A1","HGNC","HGNC:2190","protein_coding",null,"CCDS44419.1","ENSP00000381949","Q5TAT6.137",null,"UPI000046FD72","Q5TAT6-1","NM_001130103.2",{"$nulls":5},"29/40",null,"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023;PANTHER:PTHR24023:SF970;PANTHER:PTHR24023:SF970;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",null,"deletion",5,4,null,1,"AGGGGGAAAAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CDH23",64072,"BI","GRCh38","chr10",71815253,71815253,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.10045del","p.Leu3349TrpfsTer8","p.L3349Wfs*8","ENST00000224721","70/70",28,23,5,26,null,null,"CDH23,frameshift_variant,p.L3349Wfs*8,ENST00000224721,NM_022124.6,c.10045del,HIGH,YES,,,1;CDH23,frameshift_variant,p.L3349Wfs*8,ENST00000622827,,c.10045del,HIGH,,,,1;CDH23,frameshift_variant,p.L1109Wfs*8,ENST00000398788,NM_001171933.1,c.3325del,HIGH,,,,1;CDH23,frameshift_variant,p.L1074Wfs*8,ENST00000619887,NM_001171934.1,c.3220del,HIGH,,,,1;PSAP,downstream_gene_variant,,ENST00000394934,,,MODIFIER,YES,,,-1;PSAP,downstream_gene_variant,,ENST00000394936,NM_002778.4&NM_001042466.3&NM_001042465.3,,MODIFIER,,,,-1;PSAP,downstream_gene_variant,,ENST00000610929,,,MODIFIER,,,,-1;PSAP,downstream_gene_variant,,ENST00000633965,,,MODIFIER,,,,-1;CDH23,3_prime_UTR_variant,,ENST00000642965,,c.*3888del,MODIFIER,,,,1;CDH23,3_prime_UTR_variant,,ENST00000647092,,c.*3516del,MODIFIER,,,,1;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,,n.3476del,MODIFIER,,,,1;PSAP,downstream_gene_variant,,ENST00000493143,,,MODIFIER,,,,-1;PSAP,downstream_gene_variant,,ENST00000495196,,,MODIFIER,,,,-1","-","ENSG00000107736","ENST00000224721","Transcript","frameshift_variant","frameshift_variant","10444/11138","10040/10065","3347/3354","T/X","aCc/ac",null,null,1,"CDH23","HGNC","HGNC:13733","protein_coding","YES","CCDS86100.1","ENSP00000224721","Q9H251.193",null,"UPI000175EE48","Q9H251-1","NM_022124.6","NM_022124.6","P1",{"$nulls":3},"70/70",null,"PDB-ENSP_mappings:2kbs.B;PANTHER:PTHR24025;PANTHER:PTHR24025:SF18",{"$nulls":41},"HIGH",1,"deletion",5,5,null,1,"TGGAGACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["GRID1",2894,"BI","GRCh38","chr10",86206531,86206531,"+","Missense_Mutation","SNP","C","C","T","rs751158483",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.353G>A","p.Arg118His","p.R118H","ENST00000327946","2024-03-16",80,56,24,114,null,null,"GRID1,missense_variant,p.R118H,ENST00000327946,NM_017551.3,c.353G>A,MODERATE,YES,deleterious(0),probably_damaging(0.991),-1;GRID1,missense_variant,p.R118H,ENST00000464741,,c.353G>A,MODERATE,,deleterious(0),probably_damaging(0.984),-1","T","ENSG00000182771","ENST00000327946","Transcript","missense_variant","missense_variant","756/6154","353/3030","118/1009","R/H","cGc/cAc","rs751158483;COSV60025468",null,-1,"GRID1","HGNC","HGNC:4575","protein_coding","YES","CCDS31236.1","ENSP00000330148","Q9ULK0.161",null,"UPI00001D8051","Q9ULK0-1","NM_017551.3","NM_017551.3","P1",null,"deleterious(0)","probably_damaging(0.991)","2024-03-16",null,"Superfamily:SSF53822;Pfam:PF01094;Gene3D:3.40.50.2300;PANTHER:PTHR18966;PANTHER:PTHR18966:SF108;CDD:cd06392",{"$nulls":8},"7.958e-06",0,0,0,0,0,"1.76e-05",0,0,"1.76e-05","gnomAD_NFE","6.7614200816024095e-06",0,0,0,0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",null,"GGTTGCGCTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4016377","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["WAPL",23063,"BI","GRCh38","chr10",86499808,86499808,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1435del","p.Arg479GlufsTer46","p.R479Efs*46","ENST00000298767","2024-03-19",96,64,32,105,null,null,"WAPL,frameshift_variant,p.R479Efs*46,ENST00000298767,NM_015045.5&NM_001318328.1,c.1435del,HIGH,YES,,,-1;WAPL,frameshift_variant,p.R479Efs*46,ENST00000618527,,c.1435del,HIGH,,,,-1;WAPL,5_prime_UTR_variant,,ENST00000263070,,c.-765del,MODIFIER,,,,-1","-","ENSG00000062650","ENST00000298767","Transcript","frameshift_variant","frameshift_variant","1885/6310","1435/3573","479/1190","R/X","Aga/ga",null,null,-1,"WAPL","HGNC","HGNC:23293","protein_coding","YES","CCDS7375.1","ENSP00000298767","Q7Z5K2.140",null,"UPI00001AE41A","Q7Z5K2-1","NM_015045.5;NM_001318328.1","NM_015045.5","P1",{"$nulls":3},"2024-03-19",null,"PANTHER:PTHR22100;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TAGTTCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KIF20B",9585,"BI","GRCh38","chr10",89743891,89743891,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3999A>T","p.Glu1333Asp","p.E1333D","ENST00000371728","22/33",110,103,7,97,null,null,"KIF20B,missense_variant,p.E1333D,ENST00000371728,NM_001284259.2&NM_001382506.1,c.3999A>T,MODERATE,YES,tolerated(0.15),benign(0.057),1;KIF20B,missense_variant,p.E1293D,ENST00000260753,NM_016195.4,c.3879A>T,MODERATE,,tolerated(0.15),benign(0.038),1;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,,n.2545A>T,MODIFIER,,,,1","T","ENSG00000138182","ENST00000371728","Transcript","missense_variant","missense_variant","4091/6441","3999/5463","1333/1820","E/D","gaA/gaT","COSV53309433",null,1,"KIF20B","HGNC","HGNC:7212","protein_coding","YES","CCDS60590.1","ENSP00000360793","Q96Q89.155",null,"UPI000013D104","Q96Q89-1","NM_001284259.2;NM_001382506.1","NM_001284259.2","P4",null,"tolerated(0.15)","benign(0.057)","22/33",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR24115;PANTHER:PTHR24115:SF534",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGGAATTAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4016547;COSM4016548","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF518A",9849,"BI","GRCh38","chr10",96159099,96159100,"+","Frame_Shift_Del","DEL","AA","AA","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2784_2785del","p.Lys928AsnfsTer18","p.K928Nfs*18","ENST00000316045","2024-06-06",46,32,14,51,null,null,"ZNF518A,frameshift_variant,p.K928Nfs*18,ENST00000624776,NM_001278525.1&NM_001330732.2&NM_001330738.1&NM_001330735.1&NM_001330737.1&NM_001330736.1,c.2784_2785del,HIGH,YES,,,1;ZNF518A,frameshift_variant,p.K928Nfs*18,ENST00000614149,,c.2784_2785del,HIGH,,,,1;ZNF518A,frameshift_variant,p.K928Nfs*18,ENST00000316045,NM_014803.4&NM_001278524.2&NM_001278526.2&NM_001330733.1&NM_001330734.1,c.2784_2785del,HIGH,,,,1;ZNF518A,downstream_gene_variant,,ENST00000478086,,,MODIFIER,,,,1;ZNF518A,intron_variant,,ENST00000442635,,n.35+3059_35+3060del,MODIFIER,,,,1;ZNF518A,intron_variant,,ENST00000563195,,n.225+25458_225+25459del,MODIFIER,,,,1;ZNF518A,downstream_gene_variant,,ENST00000488700,,,MODIFIER,,,,1;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,,n.3615_3616del,MODIFIER,,,,1","-","ENSG00000177853","ENST00000316045","Transcript","frameshift_variant","frameshift_variant","3634-3635/7277","2777-2778/4452","926/1483","Q/X","cAA/c",null,null,1,"ZNF518A","HGNC","HGNC:29009","protein_coding",null,"CCDS73170.1","ENSP00000479684","Q6AHZ1.152",null,"UPI00003FEC7C","Q6AHZ1-1","NM_014803.4;NM_001278524.2;NM_001278526.2;NM_001330733.1;NM_001330734.1",null,"P1",{"$nulls":3},"2024-06-06",null,"PANTHER:PTHR24403;PANTHER:PTHR24403:SF81",{"$nulls":41},"HIGH",null,"deletion",1,7,null,null,"CAGAACAAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LOXL4",84171,"BI","GRCh38","chr10",98262088,98262088,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.403del","p.Arg135GlyfsTer40","p.R135Gfs*40","ENST00000260702","2024-03-15",45,35,9,46,null,null,"LOXL4,frameshift_variant,p.R135Gfs*40,ENST00000260702,NM_032211.7,c.403del,HIGH,YES,,,-1","-","ENSG00000138131","ENST00000260702","Transcript","frameshift_variant","frameshift_variant","498/3597","403/2271","135/756","R/X","Cgg/gg","COSV53257058;COSV99583837",null,-1,"LOXL4","HGNC","HGNC:17171","protein_coding","YES","CCDS7473.1","ENSP00000260702","Q96JB6.167",null,"UPI0000046706",null,"NM_032211.7","NM_032211.7","P1",{"$nulls":3},"2024-03-15",null,"Gene3D:3.10.250.10;PANTHER:PTHR45817;PANTHER:PTHR45817:SF5;Superfamily:SSF56487",{"$nulls":33},"1;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"1;1",null,"GGCGCCGGGGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PAX2",5076,"BI","GRCh38","chr10",100827581,100827581,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1216G>A","p.Ala406Thr","p.A406T","ENST00000428433","2024-11-11",188,99,84,175,null,null,"PAX2,missense_variant,p.A383T,ENST00000355243,NM_001304569.2&NM_000278.5&NM_003989.5,c.1147G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.007),1;PAX2,missense_variant,p.A406T,ENST00000428433,NM_003987.5&NM_003990.5,c.1216G>A,MODERATE,YES,deleterious(0.01),benign(0.038),1;PAX2,missense_variant,p.A382T,ENST00000361791,,c.1144G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.007),1;PAX2,3_prime_UTR_variant,,ENST00000370296,NM_003988.5,c.*39G>A,MODIFIER,,,,1;PAX2,downstream_gene_variant,,ENST00000554172,,,MODIFIER,,,,1","A","ENSG00000075891","ENST00000428433","Transcript","missense_variant","missense_variant","1766/4126","1216/1254","406/417","A/T","Gcc/Acc","COSV62291566",null,1,"PAX2","HGNC","HGNC:8616","protein_coding","YES",null,"ENSP00000396259","Q02962.209",null,"UPI00001AEA24","Q02962-1","NM_003987.5;NM_003990.5",null,"A2",null,"deleterious(0.01)","benign(0.038)","2024-11-11",null,"PANTHER:PTHR45636:SF19;PANTHER:PTHR45636;Pfam:PF12403;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"GCTCCGCCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4011051","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEMA4G",57715,"BI","GRCh38","chr10",100983521,100983521,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1910del","p.Asn637MetfsTer37","p.N637Mfs*37","ENST00000370250","14/14",59,44,15,52,null,null,"SEMA4G,frameshift_variant,p.N642Mfs*37,ENST00000210633,NM_017893.3,c.1925del,HIGH,YES,,,1;SEMA4G,frameshift_variant,p.N637Mfs*37,ENST00000370250,,c.1910del,HIGH,,,,1;MRPL43,intron_variant,,ENST00000299179,NM_176793.2,c.528+234del,MODIFIER,,,,-1;MRPL43,intron_variant,,ENST00000318325,NM_176792.3,c.528+234del,MODIFIER,,,,-1;MRPL43,intron_variant,,ENST00000342071,NM_176794.1,c.655+234del,MODIFIER,,,,-1;MRPL43,intron_variant,,ENST00000370241,,c.528+234del,MODIFIER,,,,-1;MRPL43,intron_variant,,ENST00000370242,,c.655+234del,MODIFIER,YES,,,-1;MRPL43,intron_variant,,ENST00000448244,,c.*50+234del,MODIFIER,,,,-1;SEMA4G,intron_variant,,ENST00000517724,NM_001203244.1,c.1706-966del,MODIFIER,,,,1;MRPL43,intron_variant,,ENST00000523148,,c.397+234del,MODIFIER,,,,-1;TWNK,upstream_gene_variant,,ENST00000311916,NM_021830.5,,MODIFIER,YES,,,1;MRPL43,downstream_gene_variant,,ENST00000318364,NM_032112.3,,MODIFIER,,,,-1;TWNK,upstream_gene_variant,,ENST00000370228,NM_001163812.2,,MODIFIER,,,,1;MRPL43,downstream_gene_variant,,ENST00000370234,NM_001308396.2,,MODIFIER,,,,-1;MRPL43,downstream_gene_variant,,ENST00000370236,,,MODIFIER,,,,-1;TWNK,upstream_gene_variant,,ENST00000459764,,,MODIFIER,,,,1;TWNK,upstream_gene_variant,,ENST00000473656,NM_001163813.2&NM_001368275.1,,MODIFIER,,,,1;SEMA4G,upstream_gene_variant,,ENST00000476171,,,MODIFIER,,,,1;TWNK,upstream_gene_variant,,ENST00000476766,NM_001163814.2,,MODIFIER,,,,1;MRPL43,downstream_gene_variant,,ENST00000477279,,,MODIFIER,,,,-1;SEMA4G,downstream_gene_variant,,ENST00000519649,,,MODIFIER,,,,1;SEMA4G,upstream_gene_variant,,ENST00000613292,,,MODIFIER,,,,1;MRPL43,intron_variant,,ENST00000476012,,n.371+234del,MODIFIER,,,,-1;SEMA4G,upstream_gene_variant,,ENST00000484128,,,MODIFIER,,,,1;MRPL43,downstream_gene_variant,,ENST00000493646,,,MODIFIER,,,,-1;SEMA4G,downstream_gene_variant,,ENST00000519756,,,MODIFIER,,,,1;SEMA4G,frameshift_variant,p.N637Mfs*37,ENST00000521006,,c.1910del,HIGH,,,,1;MRPL43,downstream_gene_variant,,ENST00000487059,,,MODIFIER,,,,-1;SEMA4G,downstream_gene_variant,,ENST00000518948,,,MODIFIER,,,,1;TWNK,upstream_gene_variant,,ENST00000643860,,,MODIFIER,,,,1;TWNK,upstream_gene_variant,,ENST00000646226,,,MODIFIER,,,,1;AL133215.1,intron_variant,,ENST00000447344,,n.168+1926del,MODIFIER,YES,,,-1","-","ENSG00000095539","ENST00000370250","Transcript","frameshift_variant","frameshift_variant","2280/3596","1907/2517","636/838","E/X","gAa/ga",null,null,1,"SEMA4G","HGNC","HGNC:10735","protein_coding",null,null,"ENSP00000359270","Q9NTN9.171",null,"UPI0000044D3A","Q9NTN9-1",null,null,"A2",{"$nulls":3},"14/14",null,"PROSITE_profiles:PS50835;CDD:cd05872;PANTHER:PTHR11036:SF17;PANTHER:PTHR11036;Gene3D:2.60.40.10;SMART:SM00409;Superfamily:SSF48726",{"$nulls":41},"HIGH",null,"deletion",5,3,null,null,"CCGAGGAAAATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TRIM8",81603,"BI","GRCh38","chr10",102654702,102654702,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.620T>C","p.Ile207Thr","p.I207T","ENST00000302424","2024-02-05",315,204,111,299,null,null,"TRIM8,missense_variant,p.I207T,ENST00000302424,,c.620T>C,MODERATE,,tolerated(0.07),probably_damaging(0.931),1;TRIM8,missense_variant,p.I207T,ENST00000643721,NM_030912.3&NM_001345950.1,c.620T>C,MODERATE,YES,tolerated(0.07),probably_damaging(0.958),1;TRIM8,missense_variant,p.I77T,ENST00000645961,,c.230T>C,MODERATE,,deleterious(0),possibly_damaging(0.462),1;TRIM8,missense_variant,p.I6T,ENST00000643100,,c.17T>C,MODERATE,,deleterious_low_confidence(0),benign(0.288),1;TRIM8,intron_variant,,ENST00000462202,,c.302-378T>C,MODIFIER,,,,1;TRIM8,upstream_gene_variant,,ENST00000642304,,,MODIFIER,,,,1;TRIM8,upstream_gene_variant,,ENST00000644914,,,MODIFIER,,,,1;TRIM8,non_coding_transcript_exon_variant,,ENST00000479004,,n.201T>C,MODIFIER,,,,1;TRIM8,non_coding_transcript_exon_variant,,ENST00000487927,,n.117T>C,MODIFIER,,,,1;TRIM8,non_coding_transcript_exon_variant,,ENST00000646349,,n.175T>C,MODIFIER,,,,1;TRIM8,missense_variant,p.I78T,ENST00000643376,,c.233T>C,MODERATE,,deleterious(0),benign(0.209),1;TRIM8,missense_variant,p.I134T,ENST00000642664,,c.401T>C,MODERATE,,deleterious(0),possibly_damaging(0.511),1;TRIM8,non_coding_transcript_exon_variant,,ENST00000644572,,n.738T>C,MODIFIER,,,,1;TRIM8,non_coding_transcript_exon_variant,,ENST00000646757,,n.659T>C,MODIFIER,,,,1;TRIM8,non_coding_transcript_exon_variant,,ENST00000644979,,n.1242T>C,MODIFIER,,,,1","C","ENSG00000171206","ENST00000302424","Transcript","missense_variant","missense_variant","743/3048","620/1182","207/393","I/T","aTt/aCt","COSV56660890",null,1,"TRIM8","HGNC","HGNC:15579","protein_coding",null,null,"ENSP00000302120",null,"A0A2U3TZI0.10","UPI000D18FF7A",{"$nulls":5},"tolerated(0.07)","probably_damaging(0.931)","2024-02-05",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR25465:SF19;PANTHER:PTHR25465",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGACATTGAGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4011299","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACSL5",51703,"BI","GRCh38","chr10",112421967,112421967,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1408G>A","p.Ala470Thr","p.A470T","ENST00000354273","16/21",122,90,32,131,null,null,"ACSL5,missense_variant,p.A470T,ENST00000393081,NM_203380.1,c.1408G>A,MODERATE,,tolerated(0.07),benign(0.007),1;ACSL5,missense_variant,p.A470T,ENST00000354273,,c.1408G>A,MODERATE,,tolerated(0.07),benign(0.007),1;ACSL5,missense_variant,p.A526T,ENST00000356116,NM_016234.3,c.1576G>A,MODERATE,YES,tolerated(0.09),benign(0.005),1;ACSL5,missense_variant,p.A470T,ENST00000354655,NM_203379.2,c.1408G>A,MODERATE,,tolerated(0.07),benign(0.007),1;ACSL5,missense_variant,p.A470T,ENST00000433418,,c.1408G>A,MODERATE,,tolerated(0.05),benign(0.003),1;ZDHHC6,downstream_gene_variant,,ENST00000626395,NM_001363544.2,,MODIFIER,,,,-1;ACSL5,downstream_gene_variant,,ENST00000467340,,,MODIFIER,,,,1;ACSL5,downstream_gene_variant,,ENST00000495539,,,MODIFIER,,,,1;ACSL5,upstream_gene_variant,,ENST00000496328,,,MODIFIER,,,,1;AL157786.1,intron_variant,,ENST00000631085,,n.111-3119C>T,MODIFIER,,,,-1;AL157786.1,upstream_gene_variant,,ENST00000424422,,,MODIFIER,,,,-1;AL157786.1,upstream_gene_variant,,ENST00000627771,,,MODIFIER,,,,-1;AL157786.1,upstream_gene_variant,,ENST00000669015,,,MODIFIER,,,,-1","A","ENSG00000197142","ENST00000354273","Transcript","missense_variant","missense_variant","1687/3353","1408/2052","470/683","A/T","Gct/Act","COSV61129883",null,1,"ACSL5","HGNC","HGNC:16526","protein_coding",null,"CCDS7573.1","ENSP00000346223","Q9ULC5.180",null,"UPI000012E295","Q9ULC5-1",null,null,"P1",null,"tolerated(0.07)","benign(0.007)","16/21",null,"Superfamily:SSF56801;Gene3D:3.40.50.12780;Pfam:PF00501;PANTHER:PTHR43272;PANTHER:PTHR43272:SF50;CDD:cd05927",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CCCTGGCTTGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM914834","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAM160B1",0,"BI","GRCh38","chr10",114836149,114836149,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.425T>C","p.Val142Ala","p.V142A","ENST00000369248","2024-05-17",253,189,64,230,null,null,"FAM160B1,missense_variant,p.V142A,ENST00000369248,NM_020940.4,c.425T>C,MODERATE,YES,tolerated(0.19),probably_damaging(0.929),1;FAM160B1,missense_variant,p.V142A,ENST00000369250,NM_001135051.2,c.425T>C,MODERATE,,tolerated(0.2),benign(0.155),1;FAM160B1,downstream_gene_variant,,ENST00000369246,,,MODIFIER,,,,1","C","ENSG00000151553","ENST00000369248","Transcript","missense_variant","missense_variant","724/5774","425/2298","142/765","V/A","gTc/gCc","COSV65086618",null,1,"FAM160B1","HGNC","HGNC:29320","protein_coding","YES","CCDS31290.1","ENSP00000358251","Q5W0V3.120",null,"UPI0000160B10","Q5W0V3-1","NM_020940.4","NM_020940.4","P1",null,"tolerated(0.19)","probably_damaging(0.929)","2024-05-17",null,"Pfam:PF10257;PANTHER:PTHR21705;PANTHER:PTHR21705:SF10",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGAAGTCCTAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4011840;COSM4011841","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CACUL1",143384,"BI","GRCh38","chr10",118754442,118754442,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.321del","p.Thr108ProfsTer16","p.T108Pfs*16","ENST00000369151","2024-01-09",18,13,5,18,null,null,"CACUL1,frameshift_variant,p.T108Pfs*16,ENST00000369151,NM_153810.5,c.321del,HIGH,YES,,,-1;CACUL1,frameshift_variant,p.T108Pfs*16,ENST00000493518,,c.321del,HIGH,,,,-1;CACUL1,non_coding_transcript_exon_variant,,ENST00000477583,,n.36del,MODIFIER,,,,-1","-","ENSG00000151893","ENST00000369151","Transcript","frameshift_variant","frameshift_variant","529/11035","321/1110","107/369","P/X","ccC/cc",null,null,-1,"CACUL1","HGNC","HGNC:23727","protein_coding","YES","CCDS41570.1","ENSP00000358147","Q86Y37.131",null,"UPI000000DCD0","Q86Y37-1","NM_153810.5","NM_153810.5","P1",{"$nulls":3},"2024-01-09",null,"Low_complexity_(Seg):seg;PANTHER:PTHR46636",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"GGCGGTGGGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4747812;COSM4747813","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MKI67",4288,"BI","GRCh38","chr10",128102824,128102824,"+","Missense_Mutation","SNP","C","C","T","rs756109830",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.9016G>A","p.Val3006Ile","p.V3006I","ENST00000368654","13/15",132,97,35,133,null,null,"MKI67,missense_variant,p.V3006I,ENST00000368654,NM_002417.5,c.9016G>A,MODERATE,YES,tolerated(0.74),benign(0.001),-1;MKI67,missense_variant,p.V2646I,ENST00000368653,NM_001145966.2,c.7936G>A,MODERATE,,tolerated(0.53),benign(0.003),-1;MKI67,non_coding_transcript_exon_variant,,ENST00000464771,,n.305G>A,MODIFIER,,,,-1","T","ENSG00000148773","ENST00000368654","Transcript","missense_variant","missense_variant","9430/12716","9016/9771","3006/3256","V/I","Gtc/Atc","rs756109830;COSV64075041",null,-1,"MKI67","HGNC","HGNC:7107","protein_coding","YES","CCDS7659.1","ENSP00000357643","P46013.205",null,"UPI000013DB54","P46013-1","NM_002417.5","NM_002417.5","P3",null,"tolerated(0.74)","benign(0.001)","13/15",null,"PANTHER:PTHR21603;PANTHER:PTHR21603:SF17;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.193e-05",0,0,0,0,0,"2.639e-05",0,0,"2.639e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",null,"CGTGACGCTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4012638","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRRC27",80313,"BI","GRCh38","chr10",132333613,132333613,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.93del","p.Ser32ProfsTer19","p.S32Pfs*19","ENST00000368613","2024-02-11",60,48,12,68,null,null,"LRRC27,frameshift_variant,p.S32Pfs*19,ENST00000368614,NM_001143757.2&NM_030626.3,c.93del,HIGH,YES,,,1;LRRC27,frameshift_variant,p.S32Pfs*19,ENST00000368613,,c.93del,HIGH,,,,1;LRRC27,frameshift_variant,p.S32Pfs*19,ENST00000344079,NM_001143759.2,c.93del,HIGH,,,,1;LRRC27,frameshift_variant,p.S32Pfs*19,ENST00000625755,NM_001143758.2,c.93del,HIGH,,,,1;LRRC27,upstream_gene_variant,,ENST00000368612,NM_001309474.2,,MODIFIER,,,,1;STK32C,upstream_gene_variant,,ENST00000368619,NM_001318881.2,,MODIFIER,,,,-1;STK32C,upstream_gene_variant,,ENST00000368620,,,MODIFIER,,,,-1;STK32C,upstream_gene_variant,,ENST00000456004,NM_001318883.2&NM_001318880.2,,MODIFIER,,,,-1;LRRC27,non_coding_transcript_exon_variant,,ENST00000462656,,n.172del,MODIFIER,,,,1;LRRC27,upstream_gene_variant,,ENST00000450442,,,MODIFIER,,,,1;LRRC27,upstream_gene_variant,,ENST00000489204,,,MODIFIER,,,,1;LRRC27,upstream_gene_variant,,ENST00000490055,,,MODIFIER,,,,1","-","ENSG00000148814","ENST00000368613","Transcript","frameshift_variant","frameshift_variant","395/2113","89/1593","30/530","T/X","aCc/ac",null,null,1,"LRRC27","HGNC","HGNC:29346","protein_coding",null,"CCDS31316.1","ENSP00000357602","Q9C0I9.144","A0A140VJN2.20","UPI0000141386","Q9C0I9-1",null,null,"P4",{"$nulls":3},"2024-02-11",null,"PANTHER:PTHR16083:SF3;PANTHER:PTHR16083;Gene3D:3.80.10.10",{"$nulls":41},"HIGH",null,"deletion",1,4,null,null,"CTGCCACCCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ADAM8",101,"BI","GRCh38","chr10",133270897,133270897,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1548G>T","p.Gln516His","p.Q516H","ENST00000445355","14/23",43,22,21,46,null,null,"ADAM8,missense_variant,p.Q516H,ENST00000445355,NM_001109.5,c.1548G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.881),-1;ADAM8,missense_variant,p.Q516H,ENST00000415217,NM_001164489.2,c.1548G>T,MODERATE,,tolerated(0.11),benign(0.159),-1;ADAM8,missense_variant,p.Q477H,ENST00000485491,NM_001164490.2,c.1431G>T,MODERATE,,deleterious(0.02),probably_damaging(0.929),-1;ADAM8,downstream_gene_variant,,ENST00000486609,,,MODIFIER,,,,-1;ADAM8,downstream_gene_variant,,ENST00000559180,,,MODIFIER,,,,-1;ADAM8,non_coding_transcript_exon_variant,,ENST00000468964,,n.394G>T,MODIFIER,,,,-1;ADAM8,downstream_gene_variant,,ENST00000463298,,,MODIFIER,,,,-1;ADAM8,downstream_gene_variant,,ENST00000537099,,,MODIFIER,,,,-1;ADAM8,downstream_gene_variant,,ENST00000560135,,,MODIFIER,,,,-1;ADAM8,downstream_gene_variant,,ENST00000561175,,,MODIFIER,,,,-1","A","ENSG00000151651","ENST00000445355","Transcript","missense_variant","missense_variant","1599/3259","1548/2475","516/824","Q/H","caG/caT","COSV101291764;COSV69864804",null,-1,"ADAM8","HGNC","HGNC:215","protein_coding","YES","CCDS31319.2","ENSP00000453302","P78325.187",null,"UPI0001AE6E16","P78325-1","NM_001109.5","NM_001109.5","P4",null,"deleterious(0.01)","possibly_damaging(0.881)","14/23",null,"Pfam:PF08516;SMART:SM00608;PANTHER:PTHR11905:SF20;PANTHER:PTHR11905",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"AAGGCCTGGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR51B5",282763,"BI","GRCh38","chr11",5343415,5343415,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.110T>C","p.Leu37Pro","p.L37P","ENST00000300773","2024-01-01",63,39,24,70,null,null,"OR51B5,missense_variant,p.L37P,ENST00000300773,NM_001005567.3,c.110T>C,MODERATE,YES,deleterious(0),probably_damaging(0.954),-1;HBE1,intron_variant,,ENST00000292896,,c.-266-73259T>C,MODIFIER,YES,,,-1;HBE1,intron_variant,,ENST00000380237,,c.-309-61464T>C,MODIFIER,,,,-1;HBG2,intron_variant,,ENST00000380252,,c.-73-88901T>C,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000415970,,n.339-2053T>C,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000420465,,n.299+2358T>C,MODIFIER,,,,-1;OR51B5,intron_variant,,ENST00000420726,,n.299+2358T>C,MODIFIER,,,,-1;AC104389.5,intron_variant,,ENST00000643199,,n.89+2358T>C,MODIFIER,,,,-1;OR51B5,missense_variant,p.L37P,ENST00000418729,,c.110T>C,MODERATE,,deleterious(0),probably_damaging(0.954),-1;AC104389.5,intron_variant,,ENST00000380259,,c.*866+2358T>C,MODIFIER,YES,,,-1","G","ENSG00000167355","ENST00000300773","Transcript","missense_variant","missense_variant","110/939","110/939","37/312","L/P","cTt/cCt","COSV56176362",null,-1,"OR51B5","HGNC","HGNC:19599","protein_coding","YES","CCDS31378.1","ENSP00000300773","Q9H339.143",null,"UPI000013E697",null,"NM_001005567.3",null,"P1",null,"deleterious(0)","probably_damaging(0.954)","2024-01-01",null,"Transmembrane_helices:TMhelix;CDD:cd15222;PANTHER:PTHR26450;PANTHER:PTHR26450:SF76;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321;Prints:PR00237",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"CAAAAAGGATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4033542","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR56B4",196335,"BI","GRCh38","chr11",6108409,6108409,"+","Missense_Mutation","SNP","G","G","T","rs779511351",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.631G>T","p.Val211Phe","p.V211F","ENST00000316529","2024-01-01",203,158,45,204,null,null,"OR56B4,missense_variant,p.V211F,ENST00000316529,NM_001005181.2,c.631G>T,MODERATE,YES,tolerated(0.46),benign(0.013),1;AC022762.1,non_coding_transcript_exon_variant,,ENST00000529961,,n.542C>A,MODIFIER,YES,,,-1","T","ENSG00000180919","ENST00000316529","Transcript","missense_variant","missense_variant","726/1152","631/960","211/319","V/F","Gtc/Ttc","rs779511351;COSV57204826",null,1,"OR56B4","HGNC","HGNC:15248","protein_coding","YES","CCDS31406.1","ENSP00000321196","Q8NH76.136",null,"UPI000004B214",null,"NM_001005181.2","NM_001005181.2","P1",null,"tolerated(0.46)","benign(0.013)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15223;PANTHER:PTHR26450:SF142;PANTHER:PTHR26450;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321",{"$nulls":8},"3.989e-06",0,0,0,0,0,"8.845e-06",0,0,"8.845e-06","gnomAD_NFE","6.760690212104237e-06",0,0,0,0,0,0,0,"1.5432100553880446e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"CATGGGTCTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034616","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR52B2",255725,"BI","GRCh38","chr11",6169429,6169429,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.898C>A","p.Gln300Lys","p.Q300K","ENST00000530810","2024-01-01",61,36,24,70,null,null,"OR52B2,missense_variant,p.Q300K,ENST00000530810,NM_001004052.1,c.898C>A,MODERATE,YES,deleterious(0.04),benign(0.297),-1;AC022762.1,intron_variant,,ENST00000529961,,n.286+15862C>A,MODIFIER,YES,,,-1","T","ENSG00000255307","ENST00000530810","Transcript","missense_variant","missense_variant","980/1079","898/972","300/323","Q/K","Cag/Aag","COSV73209433",null,-1,"OR52B2","HGNC","HGNC:15207","protein_coding","YES","CCDS53598.1","ENSP00000432011","Q96RD2.145",null,"UPI000004B212",null,"NM_001004052.1",null,"P1",null,"deleterious(0.04)","benign(0.297)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PANTHER:PTHR26450;PANTHER:PTHR26450:SF151;Superfamily:SSF81321;CDD:cd15221",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TATCTGCTTAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034691;COSM4034692","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DCHS1",8642,"BI","GRCh38","chr11",6625945,6625945,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.6706G>T","p.Asp2236Tyr","p.D2236Y","ENST00000299441","17/21",23,13,10,22,null,null,"DCHS1,missense_variant,p.D2236Y,ENST00000299441,NM_003737.4,c.6706G>T,MODERATE,YES,deleterious(0),probably_damaging(0.983),-1;AC091564.4,downstream_gene_variant,,ENST00000526456,,,MODIFIER,YES,,,1;AC091564.5,upstream_gene_variant,,ENST00000526633,,,MODIFIER,,,,1;AC091564.5,upstream_gene_variant,,ENST00000656961,,,MODIFIER,YES,,,1","A","ENSG00000166341","ENST00000299441","Transcript","missense_variant","missense_variant","7073/10713","6706/9897","2236/3298","D/Y","Gac/Tac","COSV55037566",null,-1,"DCHS1","HGNC","HGNC:13681","protein_coding","YES","CCDS7771.1","ENSP00000299441","Q96JQ0.152",null,"UPI00001313B6",null,"NM_003737.4","NM_003737.4","P1",null,"deleterious(0)","probably_damaging(0.983)","17/21",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24025;PANTHER:PTHR24025:SF22;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACGGTCCAGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4035835","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF214",7761,"BI","GRCh38","chr11",7001189,7001189,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.494del","p.Gly165AlafsTer21","p.G165Afs*21","ENST00000278314","2024-03-03",148,110,37,145,null,null,"ZNF214,frameshift_variant,p.G165Afs*21,ENST00000278314,NM_001354832.2&NM_001354833.2&NM_013249.4,c.494del,HIGH,YES,,,-1;ZNF214,frameshift_variant,p.G165Afs*21,ENST00000536068,NM_001354830.2&NM_001354831.2,c.494del,HIGH,,,,-1;ZNF214,downstream_gene_variant,,ENST00000531083,,,MODIFIER,,,,-1;ZNF215,downstream_gene_variant,,ENST00000636606,,,MODIFIER,,,,1","-","ENSG00000149050","ENST00000278314","Transcript","frameshift_variant","frameshift_variant","788/4892","494/1821","165/606","G/X","gGc/gc",null,null,-1,"ZNF214","HGNC","HGNC:13006","protein_coding","YES","CCDS31418.1","ENSP00000278314","Q9UL59.168",null,"UPI000013DB6B",null,"NM_001354832.2;NM_001354833.2;NM_013249.4","NM_013249.4","P1",{"$nulls":3},"2024-03-03",null,"PANTHER:PTHR24377;PANTHER:PTHR24377:SF660",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TATCTGCCCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KCNC1",3746,"BI","GRCh38","chr11",17771671,17771671,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.577G>A","p.Ala193Thr","p.A193T","ENST00000379472","2024-02-02",130,86,43,128,null,null,"KCNC1,missense_variant,p.A193T,ENST00000379472,NM_004976.4,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.949),1;KCNC1,missense_variant,p.A193T,ENST00000639325,,c.577G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;KCNC1,missense_variant,p.A193T,ENST00000640318,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(1),1;KCNC1,missense_variant,p.A193T,ENST00000265969,NM_001112741.2,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;KCNC1,missense_variant,p.A193T,ENST00000675775,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(1),1;KCNC1,upstream_gene_variant,,ENST00000638825,,,MODIFIER,,,,1;KCNC1,upstream_gene_variant,,ENST00000639495,,,MODIFIER,,,,1;KCNC1,upstream_gene_variant,,ENST00000640461,,,MODIFIER,,,,1;KCNC1,non_coding_transcript_exon_variant,,ENST00000640153,,n.105G>A,MODIFIER,,,,1;KCNC1,missense_variant,p.A193T,ENST00000640909,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;KCNC1,upstream_gene_variant,,ENST00000525802,,,MODIFIER,,,,1;KCNC1,upstream_gene_variant,,ENST00000638366,,,MODIFIER,,,,1;KCNC1,upstream_gene_variant,,ENST00000638395,,,MODIFIER,,,,1","A","ENSG00000129159","ENST00000379472","Transcript","missense_variant","missense_variant","1806/7965","577/1536","193/511","A/T","Gcc/Acc","COSV56391621",null,1,"KCNC1","HGNC","HGNC:6233","protein_coding",null,"CCDS7827.1","ENSP00000368785","P48547.179",null,"UPI00000557DB","P48547-1","NM_004976.4",{"$nulls":3},"deleterious(0)","probably_damaging(0.949)","2024-02-02",null,"Gene3D:1.20.120.350;Pfam:PF00520;Prints:PR00169;PANTHER:PTHR11537;PANTHER:PTHR11537:SF87;Superfamily:SSF81324;Transmembrane_helices:TMhelix",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"ATGTGGCCTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4031861;COSM4031862","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CRY2",1408,"BI","GRCh38","chr11",45856070,45856070,"+","Missense_Mutation","SNP","G","G","A","rs200945082",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.304G>A","p.Val102Met","p.V102M","ENST00000616080","2024-02-12",185,140,45,169,null,null,"CRY2,missense_variant,p.V123M,ENST00000616623,,c.367G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.591),1;CRY2,missense_variant,p.V123M,ENST00000443527,,c.367G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.591),1;CRY2,missense_variant,p.V102M,ENST00000616080,NM_021117.5,c.304G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.468),1;CRY2,missense_variant,p.V41M,ENST00000417225,NM_001127457.2,c.121G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.713),1;CRY2,non_coding_transcript_exon_variant,,ENST00000473199,,n.317G>A,MODIFIER,,,,1;CRY2,non_coding_transcript_exon_variant,,ENST00000532390,,n.317G>A,MODIFIER,,,,1;CRY2,upstream_gene_variant,,ENST00000533779,,,MODIFIER,,,,1;CRY2,non_coding_transcript_exon_variant,,ENST00000496571,,n.317G>A,MODIFIER,,,,1;CRY2,upstream_gene_variant,,ENST00000525110,,,MODIFIER,,,,1","A","ENSG00000121671","ENST00000616080","Transcript","missense_variant","missense_variant","320/4131","304/1782","102/593","V/M","Gtg/Atg","rs200945082;COSV69888718",null,1,"CRY2","HGNC","HGNC:2385","protein_coding",null,null,"ENSP00000484684","Q49AN0.142","A2I2P1.114","UPI000007468B","Q49AN0-1","NM_021117.5","NM_021117.5","P4",null,"deleterious(0.01)","possibly_damaging(0.468)","2024-02-12",null,"PROSITE_profiles:PS51645;PANTHER:PTHR11455:SF15;PANTHER:PTHR11455;Gene3D:3.40.50.620;Pfam:PF00875;Superfamily:SSF52425",{"$nulls":8},"2.386e-05","6.152e-05","2.891e-05",0,0,0,"3.516e-05",0,0,"6.152e-05","gnomAD_AFR","2.0275800125091337e-05","4.8623900511302054e-05",0,0,0,0,0,0,"1.5427800462930463e-05",0,0,"4.8623900511302054e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CCGACGTGTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1979676;COSM1979677","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LARGE2",120071,"BI","GRCh38","chr11",45927581,45927581,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1592A>G","p.Tyr531Cys","p.Y531C","ENST00000325468","2024-10-13",184,138,46,187,null,null,"LARGE2,missense_variant,p.Y531C,ENST00000401752,NM_001300721.2,c.1592A>G,MODERATE,YES,deleterious(0),benign(0.18),1;LARGE2,missense_variant,p.Y531C,ENST00000531526,NM_152312.5,c.1592A>G,MODERATE,,deleterious(0),benign(0.18),1;LARGE2,missense_variant,p.Y531C,ENST00000325468,,c.1592A>G,MODERATE,,deleterious(0),benign(0.18),1;LARGE2,missense_variant,p.Y500C,ENST00000529052,NM_001300722.2,c.1499A>G,MODERATE,,deleterious(0),possibly_damaging(0.551),1;LARGE2,missense_variant,p.T149A,ENST00000534410,,c.445A>G,MODERATE,,deleterious_low_confidence(0),unknown(0),1;PHF21A,downstream_gene_variant,,ENST00000323180,NM_001352030.3&NM_001352031.3&NM_016621.5&NM_001352032.3&NM_001352028.1&NM_001352029.1,,MODIFIER,,,,-1;LARGE2,upstream_gene_variant,,ENST00000531847,,,MODIFIER,,,,1;PHF21A,downstream_gene_variant,,ENST00000676320,NM_001352026.3&NM_001352027.3&NM_001352025.3,,MODIFIER,YES,,,-1;LARGE2,non_coding_transcript_exon_variant,,ENST00000528236,,n.1298A>G,MODIFIER,,,,1;LARGE2,non_coding_transcript_exon_variant,,ENST00000530437,,n.663A>G,MODIFIER,,,,1;LARGE2,downstream_gene_variant,,ENST00000414027,,,MODIFIER,,,,1;LARGE2,downstream_gene_variant,,ENST00000525609,,,MODIFIER,,,,1;PHF21A,downstream_gene_variant,,ENST00000527401,,,MODIFIER,,,,-1","G","ENSG00000165905","ENST00000325468","Transcript","missense_variant","missense_variant","1697/2522","1592/2166","531/721","Y/C","tAc/tGc","COSV57655531",null,1,"LARGE2","HGNC","HGNC:16522","protein_coding",null,"CCDS31473.1","ENSP00000324570","Q8N3Y3.139",null,"UPI000004B639",{"$nulls":3},"P4",null,"deleterious(0)","benign(0.18)","2024-10-13",null,"PANTHER:PTHR12270;PANTHER:PTHR12270:SF23;Pfam:PF13896",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TCTCTACGACT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4032930;COSM4032931","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MADD",8567,"BI","GRCh38","chr11",47274675,47274675,"+","Missense_Mutation","SNP","G","G","A","rs1388649838",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.175G>A","p.Glu59Lys","p.E59K","ENST00000311027","3/36",371,246,125,326,null,null,"MADD,missense_variant,p.E59K,ENST00000342922,NM_130470.3&NM_001376620.1&NM_001376584.1&NM_001376612.1&NM_001376611.1&NM_001376663.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;MADD,missense_variant,p.E59K,ENST00000311027,NM_001376595.1&NM_001376576.1&NM_003682.4&NM_001376574.1&NM_001376571.1&NM_001376572.1&NM_001376573.1&NM_001376575.1&NM_001376577.1&NM_001376583.1&NM_001376578.1&NM_001376581.1&NM_001376582.1&NM_001376585.1&NM_001376597.1&NM_001376598.1&NM_001376626.1&NM_001376627.1&NM_001376644.1&NM_001376647.1,c.175G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;MADD,missense_variant,p.E59K,ENST00000395336,NM_001376641.1&NM_001376625.1&NM_001376630.1&NM_001376636.1&NM_001376638.1&NM_001376648.1&NM_001376600.1&NM_001376634.1&NM_001376596.1&NM_001376642.1&NM_130475.3&NM_001376599.1&NM_001376605.1&NM_001376606.1&NM_001376633.1&NM_001376609.1&NM_001376608.1&NM_001376610.1&NM_001376624.1&NM_001376628.1&NM_001376629.1&NM_001376637.1&NM_001376639.1&NM_001376643.1&NM_001376655.1&NM_001376640.1&NM_001376645.1&NM_001376662.1&NM_001376658.1&NM_001376632.1&NM_001376649.1&NM_001376657.1&NM_001376659.1&NM_001376660.1&NM_001376601.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;MADD,missense_variant,p.E59K,ENST00000349238,NM_130473.3,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.981),1;MADD,missense_variant,p.E59K,ENST00000402192,NM_001376614.1&NM_001376594.1&NM_130476.3&NM_001376579.1&NM_001376580.1&NM_001376593.1&NM_001376613.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.991),1;MADD,missense_variant,p.E59K,ENST00000407859,NM_130471.3&NM_001376586.1&NM_001376617.1&NM_001376607.1&NM_001376602.1&NM_001376635.1&NM_001376654.1&NM_001376646.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;MADD,missense_variant,p.E59K,ENST00000402799,NM_001376616.1&NM_130472.3&NM_001376603.1&NM_001376615.1&NM_001135943.2,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.974),1;MADD,missense_variant,p.E59K,ENST00000406482,NM_001376651.1&NM_001376631.1&NM_001376622.1&NM_130474.3&NM_001376623.1&NM_001376652.1&NM_001376653.1&NM_001376656.1&NM_001376661.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.986),1;MADD,missense_variant,p.E59K,ENST00000395344,NM_001376619.1&NM_001376621.1&NM_001135944.2&NM_001376604.1&NM_001376618.1&NM_001376650.1,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;MADD,missense_variant,p.E59K,ENST00000444117,,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;MADD,missense_variant,p.E59K,ENST00000422579,,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;MADD,missense_variant,p.E59K,ENST00000453571,,c.175G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;MADD,intron_variant,,ENST00000428807,,c.-7-1224G>A,MODIFIER,,,,1;MADD,non_coding_transcript_exon_variant,,ENST00000526603,,n.204G>A,MODIFIER,,,,1;MADD,non_coding_transcript_exon_variant,,ENST00000534808,,n.187G>A,MODIFIER,,,,1;MADD,upstream_gene_variant,,ENST00000489415,,,MODIFIER,,,,1;MADD-AS1,upstream_gene_variant,,ENST00000543925,,,MODIFIER,,,,-1;MADD-AS1,upstream_gene_variant,,ENST00000545474,,,MODIFIER,YES,,,-1","A","ENSG00000110514","ENST00000311027","Transcript","missense_variant","missense_variant","340/5990","175/4944","59/1647","E/K","Gag/Aag","rs1388649838;COSV60625411",null,1,"MADD","HGNC","HGNC:6766","protein_coding","YES","CCDS7930.1","ENSP00000310933","Q8WXG6.139",null,"UPI000013E874","Q8WXG6-1","NM_001376595.1;NM_001376576.1;NM_003682.4;NM_001376574.1;NM_001376571.1;NM_001376572.1;NM_001376573.1;NM_001376575.1;NM_001376577.1;NM_001376583.1;NM_001376578.1;NM_001376581.1;NM_001376582.1;NM_001376585.1;NM_001376597.1;NM_001376598.1;NM_001376626.1;NM_001376627.1;NM_001376644.1;NM_001376647.1",null,"P4",null,"deleterious(0)","probably_damaging(0.996)","3/36",null,"Pfam:PF03456;PROSITE_profiles:PS50211;PANTHER:PTHR13008;SMART:SM00800",{"$nulls":8},"7.955e-06",0,0,0,0,0,"8.793e-06",1.629E-4,0,1.629E-4,"gnomAD_OTH","6.760410087736091e-06","2.4316699636983685e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGCCCGAGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1675970","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SERPING1",710,"BI","GRCh38","chr11",57600377,57600377,"+","Missense_Mutation","SNP","G","G","A","rs281875170",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.550G>A","p.Gly184Arg","p.G184R","ENST00000278407","2024-03-08",82,56,26,58,null,null,"SERPING1,missense_variant,p.G218R,ENST00000403558,,c.652G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000676670,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000278407,NM_000062.3&NM_001032295.2,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000677625,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G132R,ENST00000378324,,c.394G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000619430,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;SERPING1,missense_variant,p.G189R,ENST00000378323,,c.565G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000340687,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,downstream_gene_variant,,ENST00000405496,,,MODIFIER,,,,1;SERPING1,downstream_gene_variant,,ENST00000457869,,,MODIFIER,,,,1;SERPING1,missense_variant,p.G184R,ENST00000677624,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000678592,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,missense_variant,p.G184R,ENST00000677915,,c.550G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SERPING1,splice_region_variant,,ENST00000676741,,n.1632G>A,LOW,,,,1;SERPING1,splice_region_variant,,ENST00000677275,,n.537G>A,LOW,,,,1;SERPING1,splice_region_variant,,ENST00000677856,,n.609G>A,LOW,,,,1;SERPING1,intron_variant,,ENST00000528996,,c.58+2049G>A,MODIFIER,,,,1;SERPING1,intron_variant,,ENST00000531133,,c.52-1658G>A,MODIFIER,,,,1;SERPING1,intron_variant,,ENST00000531605,,c.52-1658G>A,MODIFIER,,,,1;SERPING1,intron_variant,,ENST00000531797,,c.52-1658G>A,MODIFIER,,,,1;SERPING1,intron_variant,,ENST00000678533,,c.52-1658G>A,MODIFIER,,,,1","A","ENSG00000149131","ENST00000278407","Transcript","missense_variant","missense_variant;splice_region_variant","610/1830","550/1503","184/500","G/R","Ggg/Agg","rs281875170;BM1165483;CS053489;CS961498;COSV53542890",null,1,"SERPING1","HGNC","HGNC:1228","protein_coding",null,"CCDS7962.1","ENSP00000278407","P05155.235","E9KL26.78","UPI000000123F","P05155-1","NM_000062.3;NM_001032295.2","NM_000062.3","P4",null,"deleterious(0)","probably_damaging(1)","2024-03-08",null,"PDB-ENSP_mappings:2oay.A;PDB-ENSP_mappings:5du3.A;PDB-ENSP_mappings:5du3.B;PDB-ENSP_mappings:5duq.A;PDB-ENSP_mappings:5duq.B;CDD:cd02050;PANTHER:PTHR11461:SF159;PANTHER:PTHR11461;Pfam:PF00079;Gene3D:3.30.497.10;SMART:SM00093;Superfamily:SSF56574",{"$nulls":32},"likely_pathogenic;pathogenic","0;0;0;0;1",22994404,{"$nulls":6},"MODERATE",null,"SNV",1,null,"1;1;1;1;1",1,"TGCTCGGTAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034076","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR5A2",219981,"BI","GRCh38","chr11",59422098,59422098,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.856G>A","p.Val286Met","p.V286M","ENST00000302040","2024-02-02",84,60,23,90,null,null,"OR5A2,missense_variant,p.V286M,ENST00000641673,NM_001001954.1,c.856G>A,MODERATE,YES,deleterious(0.02),benign(0.014),-1;OR5A2,missense_variant,p.V286M,ENST00000641361,,c.856G>A,MODERATE,,deleterious(0.02),benign(0.014),-1;OR5A2,missense_variant,p.V286M,ENST00000302040,,c.856G>A,MODERATE,,deleterious(0.02),benign(0.014),-1","T","ENSG00000172324","ENST00000302040","Transcript","missense_variant","missense_variant","1189/6318","856/975","286/324","V/M","Gtg/Atg","COSV57391293",null,-1,"OR5A2","HGNC","HGNC:15249","protein_coding",null,"CCDS31560.1","ENSP00000303834","Q8NGI9.140","A0A126GVD5.30","UPI0000041CB9",{"$nulls":3},"P1",null,"deleterious(0.02)","benign(0.014)","2024-02-02",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF176;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15417",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"ATTCACCACGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034294","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MS4A15",219995,"BI","GRCh38","chr11",60773425,60773425,"+","Missense_Mutation","SNP","G","G","A","rs764559217",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.439G>A","p.Val147Ile","p.V147I","ENST00000405633","2024-05-07",35,30,5,37,null,null,"MS4A15,missense_variant,p.V147I,ENST00000405633,NM_001098835.2,c.439G>A,MODERATE,YES,tolerated(0.05),benign(0.003),1;MS4A15,missense_variant,p.V54I,ENST00000337911,NM_152717.3,c.160G>A,MODERATE,,tolerated(0.1),benign(0.003),1;MS4A15,missense_variant,p.V106I,ENST00000528170,NM_001278242.2,c.316G>A,MODERATE,,deleterious(0.04),benign(0.007),1;MS4A15,3_prime_UTR_variant,,ENST00000429322,,c.*162G>A,MODIFIER,,,,1","A","ENSG00000166961","ENST00000405633","Transcript","missense_variant","missense_variant","659/1961","439/723","147/240","V/I","Gtc/Atc","rs764559217;COSV61961369",null,1,"MS4A15","HGNC","HGNC:28573","protein_coding","YES","CCDS44617.1","ENSP00000386022","Q8N5U1.114",null,"UPI00001FA81E","Q8N5U1-1","NM_001098835.2","NM_001098835.2","P1",null,"tolerated(0.05)","benign(0.003)","2024-05-07",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR23320;PANTHER:PTHR23320:SF51;Pfam:PF04103",{"$nulls":8},"1.195e-05",0,0,0,1.088E-4,0,"8.806e-06",0,0,1.088E-4,"gnomAD_EAS","6.7584001044451725e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCAGCGTCATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034444;COSM4034445","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DAGLA",747,"BI","GRCh38","chr11",61743616,61743616,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2256G>T","p.Gln752His","p.Q752H","ENST00000257215","20/20",87,66,20,108,null,null,"DAGLA,missense_variant,p.Q752H,ENST00000257215,NM_006133.3,c.2256G>T,MODERATE,YES,deleterious_low_confidence(0.04),benign(0.041),1;DAGLA,3_prime_UTR_variant,,ENST00000540717,,c.*1729G>T,MODIFIER,,,,1;MYRF-AS1,downstream_gene_variant,,ENST00000536405,,,MODIFIER,YES,,,-1;MYRF-AS1,downstream_gene_variant,,ENST00000541891,,,MODIFIER,,,,-1","T","ENSG00000134780","ENST00000257215","Transcript","missense_variant","missense_variant","2414/5799","2256/3129","752/1042","Q/H","caG/caT","COSV57197196",null,1,"DAGLA","HGNC","HGNC:1165","protein_coding","YES","CCDS31578.1","ENSP00000257215","Q9Y4D2.144","A0A024R517.42","UPI00001678B3",null,"NM_006133.3","NM_006133.3","P1",null,"deleterious_low_confidence(0.04)","benign(0.041)","20/20",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CGCCAGGACCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034636","N","Unknown",{"$nulls":3},"muse;mutect2"]
["AHNAK",79026,"BI","GRCh38","chr11",62521705,62521705,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.12712G>A","p.Ala4238Thr","p.A4238T","ENST00000378024","2024-05-05",356,261,94,367,null,null,"AHNAK,missense_variant,p.A4238T,ENST00000378024,NM_001620.3&NM_001346445.2&NM_001346446.2,c.12712G>A,MODERATE,YES,deleterious(0.03),benign(0.295),-1;AHNAK,intron_variant,,ENST00000257247,NM_024060.4,c.342+13298G>A,MODIFIER,,,,-1;AHNAK,intron_variant,,ENST00000530124,,c.342+13298G>A,MODIFIER,,,,-1;AHNAK,intron_variant,,ENST00000533365,,c.342+13298G>A,MODIFIER,,,,-1;AHNAK,upstream_gene_variant,,ENST00000525875,,,MODIFIER,,,,-1","T","ENSG00000124942","ENST00000378024","Transcript","missense_variant","missense_variant","12958/18761","12712/17673","4238/5890","A/T","Gcg/Acg","COSV57217254",null,-1,"AHNAK","HGNC","HGNC:347","protein_coding","YES","CCDS31584.1","ENSP00000367263","Q09666.175",null,"UPI00004EC29C","Q09666-1","NM_001620.3;NM_001346445.2;NM_001346446.2","NM_001620.3",null,null,"deleterious(0.03)","benign(0.295)","2024-05-05",null,"PANTHER:PTHR23348;PANTHER:PTHR23348:SF41",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"TTTCGCATCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034729;COSM4906484","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ROM1",6094,"BI","GRCh38","chr11",62613286,62613286,"+","Missense_Mutation","SNP","C","C","T","rs754380899",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5C>T","p.Ala2Val","p.A2V","ENST00000278833","2024-01-03",10,4,6,26,null,null,"ROM1,missense_variant,p.A2V,ENST00000278833,NM_000327.4,c.5C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.97),1;ROM1,intron_variant,,ENST00000525801,,c.-38-972C>T,MODIFIER,,,,1;ROM1,intron_variant,,ENST00000534093,,c.-38-972C>T,MODIFIER,,,,1;B3GAT3,downstream_gene_variant,,ENST00000265471,NM_012200.4&NM_001288721.2,,MODIFIER,YES,,,-1;EML3,upstream_gene_variant,,ENST00000278845,,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000394773,NM_153265.3,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000394776,,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000419857,,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000466671,,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000466886,,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000494176,,,MODIFIER,,,,-1;ROM1,upstream_gene_variant,,ENST00000525947,,,MODIFIER,,,,1;EML3,upstream_gene_variant,,ENST00000529309,NM_001300794.2&NM_001300793.2,,MODIFIER,YES,,,-1;B3GAT3,downstream_gene_variant,,ENST00000531383,NM_001288722.2,,MODIFIER,,,,-1;EML3,upstream_gene_variant,,ENST00000531557,,,MODIFIER,,,,-1;B3GAT3,downstream_gene_variant,,ENST00000534026,NM_001288723.2,,MODIFIER,,,,-1;B3GAT3,downstream_gene_variant,,ENST00000534715,,,MODIFIER,,,,-1;ROM1,downstream_gene_variant,,ENST00000529273,,,MODIFIER,,,,1;EML3,upstream_gene_variant,,ENST00000494448,,,MODIFIER,,,,-1;B3GAT3,downstream_gene_variant,,ENST00000532585,,,MODIFIER,,,,-1;B3GAT3,downstream_gene_variant,,ENST00000533303,,,MODIFIER,,,,-1","T","ENSG00000149489","ENST00000278833","Transcript","missense_variant","missense_variant","30/1358","5/1056","2/351","A/V","gCg/gTg","rs754380899;COSV53883034",null,1,"ROM1","HGNC","HGNC:10254","protein_coding","YES","CCDS8024.1","ENSP00000278833","Q03395.172",null,"UPI000013DB95",null,"NM_000327.4","NM_000327.4","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.97)","2024-01-03",{"$nulls":10},"1.309e-05",0.0001369,0,0,0,0,"9.694e-06",0,0,0.0001369,"gnomAD_AFR","6.758490144420648e-06","2.4311999368364923e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GATGGCGCCGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4034811","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLAAT4",5920,"BI","GRCh38","chr11",63546236,63546237,"+","Frame_Shift_Ins","INS","-","-","A","rs745860467",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.483dup","p.Ala162SerfsTer55","p.A162Sfs*55","ENST00000255688","2024-04-04",168,140,28,166,null,null,"PLAAT4,frameshift_variant,p.A162Sfs*55,ENST00000255688,NM_004585.5,c.483dup,HIGH,YES,,,1;PLAAT4,frameshift_variant,p.A162Sfs*55,ENST00000354445,,c.483dup,HIGH,,,,1;PLAAT4,downstream_gene_variant,,ENST00000439013,,,MODIFIER,,,,1;PLAAT4,non_coding_transcript_exon_variant,,ENST00000537871,,n.434dup,MODIFIER,,,,1;PLAAT4,non_coding_transcript_exon_variant,,ENST00000544107,,n.419dup,MODIFIER,,,,1","A","ENSG00000133321","ENST00000255688","Transcript","frameshift_variant","frameshift_variant","536-537/758","475-476/495","159/164","Q/QX","caa/cAaa","rs745860467",null,1,"PLAAT4","HGNC","HGNC:9869","protein_coding","YES","CCDS41662.1","ENSP00000255688","Q9UL19.143",null,"UPI0000136F56","Q9UL19-1","NM_004585.5","NM_004585.5","P4",{"$nulls":3},"2024-04-04",null,"PANTHER:PTHR13943:SF36;PANTHER:PTHR13943",{"$nulls":8},"8.085e-05",0,"2.927e-05",0,0.0003953,0,"6.231e-05",0.0001668,1.315E-4,0.0003953,"gnomAD_EAS","7.539099897257984e-05","9.851250069914386e-05",0,0,0,0.000640477985143661,0,0,"6.210990250110626e-05",0,0,0.000640477985143661,"eas",{"$nulls":9},"HIGH",1,"insertion",1,8,null,null,"GATACCAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM5839107","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LTBP3",4054,"BI","GRCh38","chr11",65554281,65554281,"+","Missense_Mutation","SNP","G","G","A","rs746544643",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.431C>T","p.Ala144Val","p.A144V","ENST00000301873","2024-02-28",22,18,4,44,null,null,"LTBP3,missense_variant,p.A144V,ENST00000301873,NM_001130144.3,c.431C>T,MODERATE,YES,tolerated(1),probably_damaging(0.978),-1;LTBP3,missense_variant,p.A144V,ENST00000322147,NM_001164266.1&NM_021070.4,c.431C>T,MODERATE,,tolerated(1),possibly_damaging(0.487),-1;LTBP3,missense_variant,p.A55V,ENST00000530866,,c.164C>T,MODERATE,,tolerated(1),probably_damaging(0.978),-1;LTBP3,intron_variant,,ENST00000526927,,c.138-1875C>T,MODIFIER,,,,-1;LTBP3,upstream_gene_variant,,ENST00000530426,,,MODIFIER,,,,-1;LTBP3,3_prime_UTR_variant,,ENST00000528516,,c.*76C>T,MODIFIER,,,,-1;LTBP3,intron_variant,,ENST00000526825,,c.138-383C>T,MODIFIER,,,,-1;LTBP3,upstream_gene_variant,,ENST00000524798,,,MODIFIER,,,,-1;LTBP3,upstream_gene_variant,,ENST00000527792,,,MODIFIER,,,,-1;LTBP3,upstream_gene_variant,,ENST00000528966,,,MODIFIER,,,,-1;LTBP3,upstream_gene_variant,,ENST00000529764,,,MODIFIER,,,,-1","A","ENSG00000168056","ENST00000301873","Transcript","missense_variant","missense_variant","831/4833","431/3912","144/1303","A/V","gCa/gTa","rs746544643;COSV100099610",null,-1,"LTBP3","HGNC","HGNC:6716","protein_coding","YES","CCDS44647.1","ENSP00000301873","Q9NS15.173",null,"UPI00003667EB","Q9NS15-1","NM_001130144.3","NM_001130144.3","P1",null,"tolerated(1)","probably_damaging(0.978)","2024-02-28",null,"Low_complexity_(Seg):seg",{"$nulls":8},"1.273e-05",0,0,0,0,0,"2.897e-05",0,0,"2.897e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",1,"CTCCTGCGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["EFEMP2",30008,"BI","GRCh38","chr11",65867030,65867030,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1220del","p.Gly407AlafsTer14","p.G407Afs*14","ENST00000307998","2024-11-11",94,71,22,79,null,null,"EFEMP2,frameshift_variant,p.G407Afs*14,ENST00000307998,NM_016938.5,c.1220del,HIGH,YES,,,-1;EFEMP2,frameshift_variant,p.G66Afs*78,ENST00000526911,,c.197del,HIGH,,,,-1;EFEMP2,frameshift_variant,p.G60Afs*14,ENST00000530806,,c.179del,HIGH,,,,-1;EFEMP2,intron_variant,,ENST00000528176,,c.1171-318del,MODIFIER,,,,-1;EFEMP2,intron_variant,,ENST00000531645,,c.319-96del,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000308110,NM_001350283.2&NM_025128.5,,MODIFIER,YES,,,1;MUS81,downstream_gene_variant,,ENST00000525768,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000526624,,,MODIFIER,,,,-1;EFEMP2,downstream_gene_variant,,ENST00000527378,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000529374,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000529742,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000530111,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000533035,,,MODIFIER,,,,1;EFEMP2,non_coding_transcript_exon_variant,,ENST00000532648,,n.75del,MODIFIER,,,,-1;MUS81,intron_variant,,ENST00000525006,,n.38-225del,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000525224,,,MODIFIER,,,,1;EFEMP2,frameshift_variant,p.G407Afs*14,ENST00000531972,,c.1220del,HIGH,,,,-1;EFEMP2,frameshift_variant,p.G18Afs*14,ENST00000527277,,c.51del,HIGH,,,,-1;EFEMP2,frameshift_variant,p.G33Afs*14,ENST00000524408,,c.96del,HIGH,,,,-1;EFEMP2,non_coding_transcript_exon_variant,,ENST00000526628,,n.1786del,MODIFIER,,,,-1;EFEMP2,non_coding_transcript_exon_variant,,ENST00000528409,,n.453del,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000524647,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000525147,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000525392,,,MODIFIER,,,,-1;EFEMP2,downstream_gene_variant,,ENST00000527969,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000529786,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000529870,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000530282,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000530850,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000530928,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000531005,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000531905,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000532084,,,MODIFIER,,,,-1;EFEMP2,downstream_gene_variant,,ENST00000533347,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000533519,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000533555,,,MODIFIER,,,,1","-","ENSG00000172638","ENST00000307998","Transcript","frameshift_variant","frameshift_variant","1345/1934","1220/1332","407/443","G/X","gGc/gc","COSV100337415",null,-1,"EFEMP2","HGNC","HGNC:3219","protein_coding","YES","CCDS8116.1","ENSP00000309953","O95967.202","A0A024R5G1.55","UPI000013EC97",null,"NM_016938.5","NM_016938.5","P1",{"$nulls":3},"2024-11-11",null,"PANTHER:PTHR24034:SF96;PANTHER:PTHR24034",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,null,1,1,"CGGGGGCCCGTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SPTBN2",6712,"BI","GRCh38","chr11",66698693,66698693,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3960G>T","p.Gln1320His","p.Q1320H","ENST00000309996","19/37",107,94,13,112,null,null,"SPTBN2,missense_variant,p.Q1320H,ENST00000533211,NM_006946.4,c.3960G>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;SPTBN2,missense_variant,p.Q1320H,ENST00000529997,,c.3960G>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;SPTBN2,missense_variant,p.Q1320H,ENST00000309996,,c.3960G>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;SPTBN2,intron_variant,,ENST00000611817,,c.1854+6729G>T,MODIFIER,,,,-1;SPTBN2,intron_variant,,ENST00000617502,,c.1845+6738G>T,MODIFIER,,,,-1;SPTBN2,non_coding_transcript_exon_variant,,ENST00000647510,,n.4487G>T,MODIFIER,,,,-1;SPTBN2,non_coding_transcript_exon_variant,,ENST00000530665,,n.115G>T,MODIFIER,,,,-1","A","ENSG00000173898","ENST00000309996","Transcript","missense_variant","missense_variant","4032/7866","3960/7173","1320/2390","Q/H","caG/caT","COSV59454268",null,-1,"SPTBN2","HGNC","HGNC:11276","protein_coding",null,"CCDS8150.1","ENSP00000311489","O15020.195",null,"UPI000013EF83","O15020-1",null,null,"P1",null,"deleterious(0)","probably_damaging(0.996)","19/37",null,"Gene3D:1.20.58.60;Pfam:PF00435;PIRSF:PIRSF002297;PANTHER:PTHR11915;PANTHER:PTHR11915:SF325;SMART:SM00150;Superfamily:SSF46966;CDD:cd00176",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AATGCCTGGTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4035826;COSM4035827","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR152",390212,"BI","GRCh38","chr11",67452448,67452448,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.277C>T","p.His93Tyr","p.H93Y","ENST00000312457","2024-01-01",38,23,15,38,null,null,"GPR152,missense_variant,p.H93Y,ENST00000312457,NM_206997.1,c.277C>T,MODERATE,YES,tolerated(0.31),benign(0.037),-1;CABP4,5_prime_UTR_variant,,ENST00000438189,NM_001379183.1&NM_001300896.3&NM_001300895.3,c.-311G>A,MODIFIER,,,,1;CABP4,upstream_gene_variant,,ENST00000325656,NM_145200.5,,MODIFIER,YES,,,1;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,,n.30G>A,MODIFIER,,,,1;CABP4,non_coding_transcript_exon_variant,,ENST00000538060,,n.43G>A,MODIFIER,,,,1;CABP4,upstream_gene_variant,,ENST00000542233,,,MODIFIER,,,,1;CABP4,non_coding_transcript_exon_variant,,ENST00000545040,,n.13G>A,MODIFIER,,,,1;CABP4,upstream_gene_variant,,ENST00000545777,,,MODIFIER,,,,1","A","ENSG00000175514","ENST00000312457","Transcript","missense_variant","missense_variant","282/1429","277/1413","93/470","H/Y","Cat/Tat","COSV56886920",null,-1,"GPR152","HGNC","HGNC:23622","protein_coding","YES","CCDS8165.1","ENSP00000310255","Q8TDT2.127","A0A0I9RJ67.27","UPI000003B364",null,"NM_206997.1","NM_206997.1","P1",null,"tolerated(0.31)","benign(0.037)","2024-01-01",null,"PROSITE_profiles:PS50262;CDD:cd14973;PANTHER:PTHR11334;PANTHER:PTHR11334:SF1;Gene3D:1.20.1070.10;Pfam:PF00001;Superfamily:SSF81321",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"CCCATGCCGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036001","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MRGPRD",116512,"BI","GRCh38","chr11",68980130,68980130,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.857G>T","p.Arg286Met","p.R286M","ENST00000309106","2024-01-01",115,82,33,105,null,null,"MRGPRD,missense_variant,p.R286M,ENST00000309106,NM_198923.2,c.857G>T,MODERATE,YES,tolerated(0.18),possibly_damaging(0.901),-1","A","ENSG00000172938","ENST00000309106","Transcript","missense_variant","missense_variant","857/966","857/966","286/321","R/M","aGg/aTg","COSV58423393",null,-1,"MRGPRD","HGNC","HGNC:29626","protein_coding","YES","CCDS31625.1","ENSP00000310631","Q8TDS7.133",null,"UPI000003BCCA",null,"NM_198923.2","NM_198923.2","P1",null,"tolerated(0.18)","possibly_damaging(0.901)","2024-01-01",null,"Gene3D:1.20.1070.10;PANTHER:PTHR11334;PANTHER:PTHR11334:SF57;CDD:cd15108",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"GCAGCCTGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036191","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FADD",8772,"BI","GRCh38","chr11",70206299,70206300,"+","Frame_Shift_Del","DEL","AG","AG","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.456_457del","p.Lys153GlyfsTer22","p.K153Gfs*22","ENST00000301838","2024-02-02",63,50,13,48,null,null,"FADD,frameshift_variant,p.K153Gfs*22,ENST00000301838,NM_003824.4,c.456_457del,HIGH,YES,,,1;AP000879.1,non_coding_transcript_exon_variant,,ENST00000526174,,n.967_968del,MODIFIER,YES,,,-1;AP000879.1,downstream_gene_variant,,ENST00000527232,,,MODIFIER,,,,-1","-","ENSG00000168040","ENST00000301838","Transcript","frameshift_variant","frameshift_variant","617-618/1708","453-454/627","151-152/208","TE/TX","acAGag/acag",null,null,1,"FADD","HGNC","HGNC:3573","protein_coding","YES","CCDS8196.1","ENSP00000301838","Q13158.206",null,"UPI000012A4D1",null,"NM_003824.4","NM_003824.4","P1",{"$nulls":3},"2024-02-02",null,"PDB-ENSP_mappings:1e3y.A;PDB-ENSP_mappings:1e41.A;PDB-ENSP_mappings:2gf5.A;PDB-ENSP_mappings:3ezq.B;PDB-ENSP_mappings:3ezq.D;PDB-ENSP_mappings:3ezq.F;PDB-ENSP_mappings:3ezq.H;PDB-ENSP_mappings:3ezq.J;PDB-ENSP_mappings:3ezq.L;PDB-ENSP_mappings:3ezq.N;PDB-ENSP_mappings:3ezq.P;PDB-ENSP_mappings:3oq9.H;PDB-ENSP_mappings:3oq9.I;PDB-ENSP_mappings:3oq9.J;PDB-ENSP_mappings:3oq9.K;PDB-ENSP_mappings:3oq9.L;PDB-ENSP_mappings:6aci.H;PROSITE_profiles:PS50017;CDD:cd08306;PANTHER:PTHR15077;Pfam:PF00531;Gene3D:1.10.533.10;PIRSF:PIRSF018586;SMART:SM00005",{"$nulls":41},"HIGH",1,"deletion",1,3,null,1,"GAACACAGAGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["SHANK2",22941,"BI","GRCh38","chr11",70486941,70486941,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3352G>A","p.Ala1118Thr","p.A1118T","ENST00000601538","24/25",94,70,24,54,null,null,"SHANK2,missense_variant,p.A522T,ENST00000409161,,c.1564G>A,MODERATE,,tolerated(0.97),benign(0),-1;SHANK2,missense_variant,p.A1118T,ENST00000601538,NM_012309.5,c.3352G>A,MODERATE,YES,tolerated(0.88),benign(0.001),-1;SHANK2,missense_variant,p.A530T,ENST00000449833,,c.1588G>A,MODERATE,,tolerated(0.98),benign(0.007),-1;SHANK2,missense_variant,p.A739T,ENST00000656230,NM_001379226.1,c.2215G>A,MODERATE,,tolerated(0.91),benign(0.001),-1;SHANK2,missense_variant,p.A548T,ENST00000659264,,c.1642G>A,MODERATE,,tolerated(0.87),benign(0.015),-1;SHANK2,missense_variant,p.A530T,ENST00000338508,NM_133266.5,c.1588G>A,MODERATE,,tolerated(0.78),benign(0.007),-1;SHANK2,missense_variant,p.A397T,ENST00000424924,,c.1189G>A,MODERATE,,tolerated(0.81),benign(0.007),-1;SHANK2,missense_variant,p.A261T,ENST00000654939,,c.781G>A,MODERATE,,tolerated(0.65),benign(0.023),-1;SHANK2,intron_variant,,ENST00000357171,,c.718+3362G>A,MODIFIER,,,,-1;SHANK2,intron_variant,,ENST00000412252,,c.755+3362G>A,MODIFIER,,,,-1;SHANK2,downstream_gene_variant,,ENST00000409530,,,MODIFIER,,,,-1;SHANK2,downstream_gene_variant,,ENST00000449116,,,MODIFIER,,,,-1","T","ENSG00000162105","ENST00000601538","Transcript","missense_variant","missense_variant","3430/9062","3352/5550","1118/1849","A/T","Gcc/Acc","COSV53600383",null,-1,"SHANK2","HGNC","HGNC:14295","protein_coding","YES",null,"ENSP00000469689","Q9UPX8.181",null,"UPI000198F7E3","Q9UPX8-3","NM_012309.5",null,"P1",null,"tolerated(0.88)","benign(0.001)","24/25",null,"PANTHER:PTHR24135;PANTHER:PTHR24135:SF17;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"GGGGGCGGGTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036337;COSM4036338;COSM4906487","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["P4HA3",283208,"BI","GRCh38","chr11",74298240,74298240,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.689T>C","p.Leu230Ser","p.L230S","ENST00000331597","2024-04-13",102,75,26,112,null,null,"P4HA3,missense_variant,p.L230S,ENST00000331597,NM_182904.5,c.689T>C,MODERATE,,deleterious(0),probably_damaging(0.982),-1;P4HA3,missense_variant,p.L230S,ENST00000427714,NM_001288748.2,c.689T>C,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;P4HA3,missense_variant,p.L230S,ENST00000524388,,c.689T>C,MODERATE,,deleterious(0),probably_damaging(1),-1;P4HA3,3_prime_UTR_variant,,ENST00000525968,,c.*340T>C,MODIFIER,,,,-1","G","ENSG00000149380","ENST00000331597","Transcript","missense_variant","missense_variant","718/2255","689/1635","230/544","L/S","tTg/tCg","COSV59042346",null,-1,"P4HA3","HGNC","HGNC:30135","protein_coding",null,"CCDS8230.1","ENSP00000332170","Q7Z4N8.150",null,"UPI00000423C1","Q7Z4N8-1","NM_182904.5","NM_182904.5","P1",null,"deleterious(0)","probably_damaging(0.982)","2024-04-13",null,"PANTHER:PTHR10869;PANTHER:PTHR10869:SF154;Gene3D:1.25.40.10;Superfamily:SSF48452",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GATCCAAGGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036668","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["THAP12",5612,"BI","GRCh38","chr11",76351899,76351899,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1251A>C","p.Lys417Asn","p.K417N","ENST00000260045","2024-05-05",62,38,23,72,null,null,"THAP12,missense_variant,p.K417N,ENST00000260045,NM_004705.4,c.1251A>C,MODERATE,YES,tolerated(0.69),benign(0),-1;THAP12,downstream_gene_variant,,ENST00000531878,,,MODIFIER,,,,-1;THAP12,non_coding_transcript_exon_variant,,ENST00000529901,,n.4852A>C,MODIFIER,,,,-1;THAP12,downstream_gene_variant,,ENST00000525277,,,MODIFIER,,,,-1;THAP12,downstream_gene_variant,,ENST00000528993,,,MODIFIER,,,,-1","G","ENSG00000137492","ENST00000260045","Transcript","missense_variant","missense_variant","1547/3490","1251/2286","417/761","K/N","aaA/aaC","COSV52611112",null,-1,"THAP12","HGNC","HGNC:9440","protein_coding","YES","CCDS8243.1","ENSP00000260045","O43422.165","A0A140VJQ7.23","UPI0000131030","O43422-1","NM_004705.4","NM_004705.4","P1",null,"tolerated(0.69)","benign(0)","2024-05-05",null,"Superfamily:SSF53098;PANTHER:PTHR46289;PANTHER:PTHR46289:SF7",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGTTCTTTACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036782","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TENM4",26011,"BI","GRCh38","chr11",78722749,78722749,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3719A>G","p.Asp1240Gly","p.D1240G","ENST00000278550","24/34",98,71,27,99,null,null,"TENM4,missense_variant,p.D1240G,ENST00000278550,NM_001098816.3,c.3719A>G,MODERATE,YES,deleterious(0),probably_damaging(0.989),-1","C","ENSG00000149256","ENST00000278550","Transcript","missense_variant","missense_variant","4561/14381","3719/8310","1240/2769","D/G","gAc/gGc","COSV53638277",null,-1,"TENM4","HGNC","HGNC:29945","protein_coding","YES","CCDS44688.1","ENSP00000278550","Q6N022.138",null,"UPI0000DD8112",null,"NM_001098816.3","NM_001098816.3","P1",null,"deleterious(0)","probably_damaging(0.989)","24/34",null,"PANTHER:PTHR11219:SF9;PANTHER:PTHR11219;Superfamily:SSF101898",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"TCCCGTCAGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4036974;COSM4036975","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRM5",2915,"BI","GRCh38","chr11",88567203,88567203,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2480C>A","p.Ala827Asp","p.A827D","ENST00000305447","2024-07-09",75,65,10,86,null,null,"GRM5,missense_variant,p.A827D,ENST00000455756,NM_000842.4,c.2480C>A,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;GRM5,missense_variant,p.A827D,ENST00000305447,NM_001143831.2,c.2480C>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.942),-1;GRM5,missense_variant,p.A827D,ENST00000305432,,c.2480C>A,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1","T","ENSG00000168959","ENST00000305447","Transcript","missense_variant","missense_variant","2630/4571","2480/3639","827/1212","A/D","gCc/gAc","COSV59610612",null,-1,"GRM5","HGNC","HGNC:4597","protein_coding","YES","CCDS44694.1","ENSP00000306138","P41594.187",null,"UPI000012F081","P41594-1","NM_001143831.2",null,"P4",null,"deleterious(0.02)","probably_damaging(0.942)","2024-07-09",null,"PDB-ENSP_mappings:4oo9.A;PDB-ENSP_mappings:5cgc.A;PDB-ENSP_mappings:5cgd.A;PDB-ENSP_mappings:6ffh.A;PDB-ENSP_mappings:6ffi.A;PDB-ENSP_mappings:6n4x.A;PDB-ENSP_mappings:6n4x.B;PDB-ENSP_mappings:6n52.A;PDB-ENSP_mappings:6n52.B;CDD:cd15450;PROSITE_profiles:PS50259;PANTHER:PTHR24060:SF30;PANTHER:PTHR24060",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTTTGGCCAGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4037300;COSM4037301","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAT3",120114,"BI","GRCh38","chr11",92890983,92890983,"+","Missense_Mutation","SNP","C","C","T","rs768827430",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.13544C>T","p.Ser4515Leu","p.S4515L","ENST00000409404","25/25",42,30,12,34,null,null,"FAT3,missense_variant,p.S4515L,ENST00000409404,NM_001008781.3,c.13544C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.727),1;FAT3,missense_variant,p.S4397L,ENST00000525166,NM_001367949.2,c.13190C>T,MODERATE,,deleterious(0),benign(0.021),1;FAT3,missense_variant,p.S850L,ENST00000533797,,c.2549C>T,MODERATE,,deleterious(0),benign(0.162),1;FAT3,downstream_gene_variant,,ENST00000489716,,,MODIFIER,,,,1;FAT3,downstream_gene_variant,,ENST00000469900,,,MODIFIER,,,,1","T","ENSG00000165323","ENST00000409404","Transcript","missense_variant","missense_variant","13561/19030","13544/13674","4515/4557","S/L","tCg/tTg","rs768827430;COSV53126641",null,1,"FAT3","HGNC","HGNC:23112","protein_coding","YES",null,"ENSP00000387040","Q8TDW7.142",null,"UPI000050B6C7","Q8TDW7-3","NM_001008781.3",null,"P1",null,"deleterious(0)","possibly_damaging(0.727)","25/25",null,"PANTHER:PTHR24026;PANTHER:PTHR24026:SF49",{"$nulls":8},"8.043e-06",0,"2.902e-05",0,0,0,"8.875e-06",0,0,"2.902e-05","gnomAD_AMR","6.757939900126075e-06","2.4306100385729223e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"ATCCTCGGATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2224308;COSM2224309;COSM2224310","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR83",10888,"BI","GRCh38","chr11",94380674,94380674,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.747C>G","p.Ile249Met","p.I249M","ENST00000243673","2024-04-04",44,35,9,53,null,null,"GPR83,missense_variant,p.I249M,ENST00000243673,NM_016540.4,c.747C>G,MODERATE,YES,tolerated(0.26),benign(0.049),-1;GPR83,missense_variant,p.I207M,ENST00000539203,NM_001330345.2,c.621C>G,MODERATE,,tolerated(0.23),benign(0.029),-1","C","ENSG00000123901","ENST00000243673","Transcript","missense_variant","missense_variant","919/4277","747/1272","249/423","I/M","atC/atG","COSV54719101;COSV99703522",null,-1,"GPR83","HGNC","HGNC:4523","protein_coding","YES","CCDS8297.1","ENSP00000243673","Q9NYM4.152",null,"UPI000013CB3F",null,"NM_016540.4","NM_016540.4","P1",null,"tolerated(0.26)","benign(0.049)","2024-04-04",null,"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;CDD:cd15389;Pfam:PF00001;Gene3D:1.20.1070.10;SMART:SM01381;Superfamily:SSF81321;PROSITE_profiles:PS50262;PANTHER:PTHR24241:SF140;PANTHER:PTHR24241;Prints:PR00237",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"GGCAGGATGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4037688","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NKAPD1",55216,"BI","GRCh38","chr11",112082904,112082907,"+","Frame_Shift_Del","DEL","ACAA","ACAA","-","rs780476786",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.817_820del","p.Lys273AlafsTer6","p.K273Afs*6","ENST00000280352","2024-06-06",60,42,18,66,null,null,"NKAPD1,frameshift_variant,p.K245Afs*6,ENST00000532163,NM_001301019.2&NM_001301021.2,c.733_736del,HIGH,,,,1;NKAPD1,frameshift_variant,p.K273Afs*6,ENST00000280352,NM_001082970.2&NM_001301017.2,c.817_820del,HIGH,,,,1;NKAPD1,frameshift_variant,p.K274Afs*6,ENST00000393047,NM_018195.4&NM_001082969.2,c.820_823del,HIGH,YES,,,1;NKAPD1,frameshift_variant,p.K273Afs*6,ENST00000420986,,c.817_820del,HIGH,,,,1;SDHD,upstream_gene_variant,,ENST00000375549,NM_003002.4,,MODIFIER,YES,,,1;TIMM8B,downstream_gene_variant,,ENST00000504148,NM_012459.4,,MODIFIER,,,,-1;SDHD,upstream_gene_variant,,ENST00000525291,NM_001276504.2,,MODIFIER,,,,1;NKAPD1,downstream_gene_variant,,ENST00000525785,,,MODIFIER,,,,1;SDHD,upstream_gene_variant,,ENST00000526592,NM_001276506.2,,MODIFIER,,,,1;NKAPD1,downstream_gene_variant,,ENST00000526879,,,MODIFIER,,,,1;SDHD,upstream_gene_variant,,ENST00000528021,,,MODIFIER,,,,1;SDHD,upstream_gene_variant,,ENST00000528048,NM_001276503.2,,MODIFIER,,,,1;SDHD,upstream_gene_variant,,ENST00000528182,,,MODIFIER,,,,1;NKAPD1,downstream_gene_variant,,ENST00000531378,,,MODIFIER,,,,1;TIMM8B,downstream_gene_variant,,ENST00000541231,,,MODIFIER,YES,,,-1;TIMM8B,downstream_gene_variant,,ENST00000507614,,,MODIFIER,,,,-1;NKAPD1,3_prime_UTR_variant,,ENST00000524989,,c.*635_*638del,MODIFIER,,,,1;TIMM8B,downstream_gene_variant,,ENST00000509359,,,MODIFIER,,,,-1;AP002884.2,upstream_gene_variant,,ENST00000525987,,,MODIFIER,,,,1;NKAPD1,downstream_gene_variant,,ENST00000530104,,,MODIFIER,,,,1;SDHD,upstream_gene_variant,,ENST00000530923,,,MODIFIER,,,,1;AP002884.2,upstream_gene_variant,,ENST00000531744,,,MODIFIER,,,,1;AP002884.2,upstream_gene_variant,,ENST00000532699,,,MODIFIER,YES,,,1;SDHD,upstream_gene_variant,,ENST00000640554,,,MODIFIER,,,,1","-","ENSG00000150776","ENST00000280352","Transcript","frameshift_variant","frameshift_variant","1447-1450/3693","811-814/879","271-272/292","TN/X","ACAAac/ac","rs780476786",null,1,"NKAPD1","HGNC","HGNC:25569","protein_coding",null,"CCDS41715.1","ENSP00000339076","Q6ZUT1.121",null,"UPI0000405397","Q6ZUT1-1","NM_001082970.2;NM_001301017.2",{"$nulls":5},"2024-06-06",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR46940",{"$nulls":6},0,0.0001212,"1.212e-05",0,0,0,0,0,"2.667e-05",0,0,0.0001212,"EA",{"$nulls":22},"HIGH",null,"deletion",2,6,null,null,"GAGAGGACAAACAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["BUD13",84811,"BI","GRCh38","chr11",116757200,116757200,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1712C>A","p.Pro571His","p.P571H","ENST00000260210","2024-09-10",50,38,12,64,null,null,"BUD13,missense_variant,p.P571H,ENST00000260210,NM_032725.4,c.1712C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;BUD13,missense_variant,p.P437H,ENST00000375445,NM_001159736.1,c.1310C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;BUD13,3_prime_UTR_variant,,ENST00000419189,,c.*132C>A,MODIFIER,,,,-1","T","ENSG00000137656","ENST00000260210","Transcript","missense_variant","missense_variant","1735/2192","1712/1860","571/619","P/H","cCt/cAt","COSV52768683",null,-1,"BUD13","HGNC","HGNC:28199","protein_coding","YES","CCDS8374.1","ENSP00000260210","Q9BRD0.136",null,"UPI0000072AE6","Q9BRD0-1","NM_032725.4","NM_032725.4","P3",null,"deleterious(0)","probably_damaging(1)","2024-09-10",null,"PDB-ENSP_mappings:5z56.Z;PDB-ENSP_mappings:5z57.Z;PDB-ENSP_mappings:5z58.Z;PDB-ENSP_mappings:6ff4.3;PDB-ENSP_mappings:6ff7.3;Pfam:PF09736;PANTHER:PTHR31809;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAGGAGGTGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4018055","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCN4B",6330,"BI","GRCh38","chr11",118143863,118143863,"+","Missense_Mutation","SNP","C","C","T","rs771504011",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.433G>A","p.Ala145Thr","p.A145T","ENST00000324727","2024-03-05",55,44,11,57,null,null,"SCN4B,missense_variant,p.A145T,ENST00000324727,NM_174934.4&NM_001142349.2,c.433G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.991),-1;SCN4B,intron_variant,,ENST00000529878,NM_001142348.2,c.62-2527G>A,MODIFIER,,,,-1;SCN4B,upstream_gene_variant,,ENST00000423160,,,MODIFIER,,,,-1;SCN4B,non_coding_transcript_exon_variant,,ENST00000415030,,n.576G>A,MODIFIER,,,,-1;SCN4B,intron_variant,,ENST00000532138,,n.719+124G>A,MODIFIER,,,,-1;SCN4B,upstream_gene_variant,,ENST00000531550,,,MODIFIER,,,,-1","T","ENSG00000177098","ENST00000324727","Transcript","missense_variant","missense_variant","583/4487","433/687","145/228","A/T","Gcc/Acc","rs771504011;COSV61252579",null,-1,"SCN4B","HGNC","HGNC:10592","protein_coding","YES","CCDS8389.1","ENSP00000322460","Q8IWT1.148","B0YJ93.101","UPI00000532AE","Q8IWT1-1","NM_174934.4;NM_001142349.2","NM_174934.4","P1",null,"deleterious(0.01)","probably_damaging(0.991)","2024-03-05",null,"PDB-ENSP_mappings:4mz2.A;PDB-ENSP_mappings:4mz3.A;PDB-ENSP_mappings:4mz3.B;PDB-ENSP_mappings:5xaw.A;PDB-ENSP_mappings:5xaw.B;PROSITE_profiles:PS50835;PANTHER:PTHR13869;PANTHER:PTHR13869:SF14;Gene3D:2.60.40.10;SMART:SM00409;Superfamily:SSF48726",{"$nulls":19},"6.759859843441518e-06",0,0,0,0,2.01207003556191E-4,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGTGGCGTGGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3967341","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BCL9L",283149,"BI","GRCh38","chr11",118902397,118902397,"+","Frame_Shift_Del","DEL","G","G","-","rs754310793",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1346del","p.Pro449LeufsTer14","p.P449Lfs*14","ENST00000334801","2024-06-08",24,16,8,27,null,null,"BCL9L,frameshift_variant,p.P449Lfs*14,ENST00000334801,NM_001378213.1&NM_182557.4,c.1346del,HIGH,YES,,,-1;BCL9L,frameshift_variant,p.P412Lfs*14,ENST00000526143,NM_001378214.1,c.1235del,HIGH,,,,-1;CXCR5,downstream_gene_variant,,ENST00000292174,NM_001716.5,,MODIFIER,YES,,,1;BCL9L,intron_variant,,ENST00000530293,,n.41-1636del,MODIFIER,,,,-1;BCL9L,downstream_gene_variant,,ENST00000527266,,,MODIFIER,,,,-1","-","ENSG00000186174","ENST00000334801","Transcript","frameshift_variant","frameshift_variant","2311/10005","1346/4500","449/1499","P/X","cCt/ct","rs754310793;COSV52681762",null,-1,"BCL9L","HGNC","HGNC:23688","protein_coding","YES","CCDS8403.1","ENSP00000335320","Q86UU0.139",null,"UPI0000192102","Q86UU0-1","NM_001378213.1;NM_182557.4",null,"P2",{"$nulls":3},"2024-06-08",null,"PANTHER:PTHR15185;PANTHER:PTHR15185:SF3;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"3.471e-05",0,0,0,0,1.03E-4,"5.49e-05",0,0,1.03E-4,"gnomAD_FIN",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",1,"GGGGGAGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1351742;COSM1351743;COSM4333860","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["HYOU1",10525,"BI","GRCh38","chr11",119049100,119049100,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1910del","p.Pro637HisfsTer60","p.P637Hfs*60","ENST00000617285","17/26",81,57,23,62,null,null,"HYOU1,frameshift_variant,p.P637Hfs*60,ENST00000617285,NM_001130991.3&NM_006389.5,c.1910del,HIGH,,,,-1;HYOU1,frameshift_variant,p.P637Hfs*60,ENST00000652093,,c.1910del,HIGH,YES,,,-1;HYOU1,frameshift_variant,p.P637Hfs*88,ENST00000614711,,c.1910del,HIGH,,,,-1;HYOU1,frameshift_variant,p.P637Hfs*?,ENST00000532519,,c.1910del,HIGH,,,,-1;HYOU1,frameshift_variant,p.P637Hfs*?,ENST00000530473,,c.1910del,HIGH,,,,-1;HYOU1,intron_variant,,ENST00000612687,,c.1807-214del,MODIFIER,,,,-1;HYOU1,intron_variant,,ENST00000614668,,c.437-3625del,MODIFIER,,,,-1;HYOU1,intron_variant,,ENST00000621959,,c.1807-214del,MODIFIER,,,,-1;HYOU1,3_prime_UTR_variant,,ENST00000543287,,c.*1866del,MODIFIER,,,,-1;HYOU1,upstream_gene_variant,,ENST00000527738,,,MODIFIER,,,,-1;HYOU1,upstream_gene_variant,,ENST00000531682,,,MODIFIER,,,,-1;HYOU1,downstream_gene_variant,,ENST00000531694,,,MODIFIER,,,,-1;AP003392.3,downstream_gene_variant,,ENST00000531886,,,MODIFIER,YES,,,1","-","ENSG00000149428","ENST00000617285","Transcript","frameshift_variant","frameshift_variant","2103/4598","1910/3000","637/999","P/X","cCa/ca","COSV101345529",null,-1,"HYOU1","HGNC","HGNC:16931","protein_coding",null,"CCDS8408.1","ENSP00000480150","Q9Y4L1.193","A0A384P5T6.12","UPI0000130F72","Q9Y4L1-1","NM_001130991.3;NM_006389.5","NM_006389.5","P3",{"$nulls":3},"17/26",null,"PANTHER:PTHR45639;PANTHER:PTHR45639:SF3;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"deletion",1,null,1,1,"GGGGGTGGGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4691661","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["OR4D5",219875,"BI","GRCh38","chr11",123940304,123940304,"+","Missense_Mutation","SNP","C","C","T","rs746149575",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.688C>T","p.Arg230Trp","p.R230W","ENST00000307033","2024-01-01",219,174,45,262,null,null,"OR4D5,missense_variant,p.R230W,ENST00000307033,NM_001001965.1,c.688C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.773),1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1,,MODIFIER,YES,,,-1","T","ENSG00000171014","ENST00000307033","Transcript","missense_variant","missense_variant","762/1095","688/957","230/318","R/W","Cgg/Tgg","rs746149575;COSV58306026",null,1,"OR4D5","HGNC","HGNC:14852","protein_coding","YES","CCDS31699.1","ENSP00000305970","Q8NGN0.134","A0A126GVD9.18","UPI000003F227",null,"NM_001001965.1",null,"P1",null,"deleterious(0.01)","possibly_damaging(0.773)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF73;Superfamily:SSF81321;CDD:cd15936",{"$nulls":8},"1.592e-05",0,"5.782e-05",0,0,0,"8.804e-06",0,"3.266e-05","5.782e-05","gnomAD_AMR","6.7584001044451725e-06","2.4314300389960408e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"ACTCACGGGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM3397505","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR8B2",26595,"BI","GRCh38","chr11",124382751,124382751,"+","Missense_Mutation","SNP","A","A","G","rs141277809",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.593T>C","p.Val198Ala","p.V198A","ENST00000375013","2024-01-01",134,92,42,121,null,null,"OR8B2,missense_variant,p.V198A,ENST00000641451,,c.593T>C,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.992),-1;OR8B2,missense_variant,p.V198A,ENST00000375013,NM_001005468.1,c.593T>C,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.992),-1;OR8C1P,upstream_gene_variant,,ENST00000427511,,,MODIFIER,YES,,,-1","G","ENSG00000284680","ENST00000375013","Transcript","missense_variant","missense_variant","593/942","593/942","198/313","V/A","gTt/gCt","rs141277809",null,-1,"OR8B2","HGNC","HGNC:8471","protein_coding",null,"CCDS31708.1","ENSP00000364152","Q96RD0.151","A0A126GVQ4.29","UPI000004B1E5",null,"NM_001005468.1",null,"P1",null,"deleterious_low_confidence(0.01)","probably_damaging(0.992)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF366;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15405",{"$nulls":6},0,0.0001163,{"$nulls":9},0.0001163,"EA","6.7627897806232795e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":11},"MODERATE",null,"SNV",{"$nulls":4},"GAACAACCACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM273060","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CACNA1C",775,"BI","GRCh38","chr12",2566466,2566466,"+","Missense_Mutation","SNP","G","G","A","rs1057517711",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1553G>A","p.Arg518His","p.R518H","ENST00000399634","12/48",18,12,6,11,null,null,"CACNA1C,missense_variant,p.R518H,ENST00000347598,NM_001129827.2&NM_199460.3,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.999),1;CACNA1C,missense_variant,p.R518H,ENST00000327702,NM_001129830.3,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.996),1;CACNA1C,missense_variant,p.R518H,ENST00000399603,NM_001167623.2,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.991),1;CACNA1C,missense_variant,p.R518H,ENST00000399641,NM_001129840.2,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.996),1;CACNA1C,missense_variant,p.R518H,ENST00000399655,NM_000719.7,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.996),1;CACNA1C,missense_variant,p.R518H,ENST00000399634,NM_001167625.1,c.1553G>A,MODERATE,YES,tolerated(0.14),probably_damaging(0.984),1;CACNA1C,missense_variant,p.R518H,ENST00000406454,,c.1553G>A,MODERATE,,tolerated(0.14),probably_damaging(0.993),1;CACNA1C,missense_variant,p.R518H,ENST00000399617,NM_001167624.2,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.997),1;CACNA1C,missense_variant,p.R543H,ENST00000335762,,c.1628G>A,MODERATE,,tolerated(0.13),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000344100,NM_001129829.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.997),1;CACNA1C,missense_variant,p.R518H,ENST00000399638,NM_001129831.1,c.1553G>A,MODERATE,,tolerated(0.13),benign(0.274),1;CACNA1C,missense_variant,p.R518H,ENST00000399606,NM_001129832.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000399621,NM_001129834.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000399637,NM_001129835.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000402845,NM_001129833.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000399629,NM_001129836.1,c.1553G>A,MODERATE,,tolerated(0.12),probably_damaging(0.998),1;CACNA1C,missense_variant,p.R518H,ENST00000399591,NM_001129838.1&NM_001129846.1,c.1553G>A,MODERATE,,tolerated(0.12),possibly_damaging(0.479),1;CACNA1C,missense_variant,p.R518H,ENST00000399595,NM_001129837.1,c.1553G>A,MODERATE,,tolerated(0.12),possibly_damaging(0.633),1;CACNA1C,missense_variant,p.R518H,ENST00000399649,NM_001129839.1,c.1553G>A,MODERATE,,tolerated(0.12),probably_damaging(0.997),1;CACNA1C,missense_variant,p.R518H,ENST00000399597,NM_001129842.1&NM_001129844.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.996),1;CACNA1C,missense_variant,p.R518H,ENST00000399601,NM_001129843.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.993),1;CACNA1C,missense_variant,p.R518H,ENST00000399644,NM_001129841.1,c.1553G>A,MODERATE,,tolerated(0.13),probably_damaging(0.993),1;CACNA1C,non_coding_transcript_exon_variant,,ENST00000491104,,n.553G>A,MODIFIER,,,,1;CACNA1C,3_prime_UTR_variant,,ENST00000480911,,c.*160G>A,MODIFIER,,,,1;CACNA1C,3_prime_UTR_variant,,ENST00000672806,,c.*1173G>A,MODIFIER,,,,1","A","ENSG00000151067","ENST00000399634","Transcript","missense_variant","missense_variant","1553/7590","1553/6630","518/2209","R/H","cGc/cAc","rs1057517711;CM158505;COSV59732331",null,1,"CACNA1C","HGNC","HGNC:1390","protein_coding","YES",null,"ENSP00000382542",null,"E9PDI6.70","UPI000155D4FC",null,"NM_001167625.1",{"$nulls":3},"tolerated(0.14)","probably_damaging(0.984)","12/48",null,"Gene3D:1.20.120.350;Prints:PR01630;PANTHER:PTHR45628;PANTHER:PTHR45628:SF11;Low_complexity_(Seg):seg",{"$nulls":19},"6.758670224371599e-06",0,0,0,0.000303030014038085,0,0,0,0,0,0,null,null,"pathogenic;likely_pathogenic;uncertain_significance","0;0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"1;1;1",1,"GTGCCGCGCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2203006;COSM2203007;COSM2203008;COSM2203009;COSM2203010;COSM2203011","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHD4",1108,"BI","GRCh38","chr12",6591492,6591492,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3275G>A","p.Arg1092Gln","p.R1092Q","ENST00000357008","22/40",111,72,39,99,null,null,"CHD4,missense_variant,p.R1098Q,ENST00000645022,NM_001297553.2,c.3293G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1102Q,ENST00000544484,,c.3305G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1105Q,ENST00000544040,NM_001273.5,c.3314G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHD4,missense_variant,p.R1092Q,ENST00000357008,NM_001363606.2,c.3275G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1098Q,ENST00000643335,,c.3293G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1085Q,ENST00000646806,,c.3254G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;CHD4,missense_variant,p.R1085Q,ENST00000642879,,c.3254G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;CHD4,missense_variant,p.R1092Q,ENST00000645645,,c.3275G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1105Q,ENST00000645095,,c.3314G>A,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1;CHD4,missense_variant,p.R1105Q,ENST00000645005,,c.3314G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHD4,missense_variant,p.R1081Q,ENST00000642594,,c.3242G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;CHD4,missense_variant,p.R1094Q,ENST00000644289,,c.3281G>A,MODERATE,,deleterious(0),probably_damaging(0.991),-1;CHD4,missense_variant,p.R748Q,ENST00000646608,,c.2243G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHD4,missense_variant,p.R678Q,ENST00000643815,,c.2033G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R439Q,ENST00000647483,,c.1316G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CHD4,missense_variant,p.R391Q,ENST00000644352,,c.1172G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,non_coding_transcript_exon_variant,,ENST00000646366,,n.2894G>A,MODIFIER,,,,-1;CHD4,non_coding_transcript_exon_variant,,ENST00000646070,,n.97G>A,MODIFIER,,,,-1;AC006064.6,missense_variant,p.R1098Q,ENST00000644480,,c.3293G>A,MODERATE,YES,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1085Q,ENST00000642810,,c.3254G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHD4,missense_variant,p.R1098Q,ENST00000644137,,c.3293G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1098Q,ENST00000646268,,c.3293G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;CHD4,missense_variant,p.R1098Q,ENST00000644801,,c.3293G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CHD4,non_coding_transcript_exon_variant,,ENST00000644356,,n.1269G>A,MODIFIER,,,,-1;CHD4,non_coding_transcript_exon_variant,,ENST00000537634,,n.540G>A,MODIFIER,,,,-1;CHD4,upstream_gene_variant,,ENST00000540960,,,MODIFIER,,,,-1;CHD4,downstream_gene_variant,,ENST00000545083,,,MODIFIER,,,,-1;CHD4,upstream_gene_variant,,ENST00000642637,,,MODIFIER,,,,-1;CHD4,upstream_gene_variant,,ENST00000643538,,,MODIFIER,,,,-1;AC006064.6,upstream_gene_variant,,ENST00000646322,,,MODIFIER,,,,-1;CHD4,upstream_gene_variant,,ENST00000646360,,,MODIFIER,,,,-1;CHD4,upstream_gene_variant,,ENST00000647333,,,MODIFIER,,,,-1","T","ENSG00000111642","ENST00000357008","Transcript","missense_variant","missense_variant","3410/6438","3275/5709","1092/1902","R/Q","cGg/cAg","COSV100537532;COSV100537818;COSV58899203",null,-1,"CHD4","HGNC","HGNC:1919","protein_coding",null,"CCDS86267.1","ENSP00000349508",null,"A0A2U3TZM0.15","UPI0003EAE9C7",null,"NM_001363606.2",{"$nulls":3},"deleterious(0)","probably_damaging(0.964)","22/40",null,"Gene3D:3.40.50.300;Pfam:PF00271;PROSITE_profiles:PS51194;PANTHER:PTHR45623;PANTHER:PTHR45623:SF22;SMART:SM00490;Superfamily:SSF52540;CDD:cd18793",{"$nulls":33},"1;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1;1",1,"CTTGCCGCATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4044331;COSM4044332;COSM4044333","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C1R",715,"BI","GRCh38","chr12",7089414,7089414,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.689del","p.Pro230LeufsTer100","p.P230Lfs*100","ENST00000536053","2024-05-11",42,34,8,34,null,null,"C1R,frameshift_variant,p.P216Lfs*100,ENST00000647956,NM_001733.7,c.647del,HIGH,,,,-1;C1R,frameshift_variant,p.P230Lfs*100,ENST00000536053,NM_001354346.2,c.689del,HIGH,YES,,,-1;C1R,frameshift_variant,p.P182Lfs*100,ENST00000535233,,c.545del,HIGH,,,,-1;C1R,downstream_gene_variant,,ENST00000538050,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000540242,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000540610,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000541042,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000543835,,,MODIFIER,,,,-1;C1RL,downstream_gene_variant,,ENST00000545280,,,MODIFIER,,,,-1;C1R,upstream_gene_variant,,ENST00000649804,,,MODIFIER,,,,-1;C1R,non_coding_transcript_exon_variant,,ENST00000648162,,n.619del,MODIFIER,,,,-1;C1R,3_prime_UTR_variant,,ENST00000543362,,c.*299del,MODIFIER,,,,-1;C1R,non_coding_transcript_exon_variant,,ENST00000540394,,n.1406del,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000536092,,,MODIFIER,,,,-1;C1RL,downstream_gene_variant,,ENST00000539803,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000543851,,,MODIFIER,,,,-1;C1R,downstream_gene_variant,,ENST00000545466,,,MODIFIER,,,,-1;C1R,upstream_gene_variant,,ENST00000602298,,,MODIFIER,,,,-1","-","ENSG00000159403","ENST00000536053","Transcript","frameshift_variant","frameshift_variant","765/2347","689/2160","230/719","P/X","cCt/ct",null,null,-1,"C1R","HGNC","HGNC:1246","protein_coding","YES","CCDS86272.1","ENSP00000444271",null,"B4DPQ0.104","UPI00017A76E3",null,"NM_001354346.2",{"$nulls":5},"2024-05-11",null,"Gene3D:2.60.120.290;Pfam:PF00431;PIRSF:PIRSF001155;PROSITE_profiles:PS01180;PANTHER:PTHR24255;PANTHER:PTHR24255:SF25;SMART:SM00042;Superfamily:SSF49854;CDD:cd00041",{"$nulls":41},"HIGH",1,"deletion",2,null,null,1,"AGGTCAGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM294194","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["C3AR1",719,"BI","GRCh38","chr12",8059842,8059842,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.344C>T","p.Ala115Val","p.A115V","ENST00000307637","2024-02-02",85,59,26,97,null,null,"C3AR1,missense_variant,p.A115V,ENST00000307637,NM_001326475.2&NM_004054.4&NM_001326477.2,c.344C>T,MODERATE,YES,tolerated(0.11),benign(0.106),-1;C3AR1,missense_variant,p.A115V,ENST00000546241,,c.344C>T,MODERATE,,tolerated(0.7),benign(0.106),-1;FOXJ2,downstream_gene_variant,,ENST00000162391,NM_018416.3,,MODIFIER,YES,,,1","A","ENSG00000171860","ENST00000307637","Transcript","missense_variant","missense_variant","436/3434","344/1449","115/482","A/V","gCc/gTc","COSV50819799",null,-1,"C3AR1","HGNC","HGNC:1319","protein_coding","YES","CCDS8588.1","ENSP00000302079","Q16581.183","A8K2H7.118","UPI0000001066",null,"NM_001326475.2;NM_004054.4;NM_001326477.2","NM_004054.4","P1",null,"tolerated(0.11)","benign(0.106)","2024-02-02",null,"Gene3D:1.20.1070.10;Pfam:PF00001;Prints:PR00237;PROSITE_patterns:PS00237;PROSITE_profiles:PS50262;PANTHER:PTHR24225;PANTHER:PTHR24225:SF28;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15115",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TAATGGCAGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4045118","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLEKHA5",54477,"BI","GRCh38","chr12",19322322,19322322,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1921C>T","p.Arg641Ter","p.R641*","ENST00000299275","14/26",73,57,16,85,null,null,"PLEKHA5,stop_gained,p.R699*,ENST00000538714,NM_001143821.3,c.2095C>T,HIGH,,,,1;PLEKHA5,stop_gained,p.R744*,ENST00000429027,NM_001256470.2,c.2230C>T,HIGH,YES,,,1;PLEKHA5,stop_gained,p.R560*,ENST00000424268,NM_001256787.1,c.1678C>T,HIGH,,,,1;PLEKHA5,stop_gained,p.R641*,ENST00000299275,NM_019012.6,c.1921C>T,HIGH,,,,1;PLEKHA5,stop_gained,p.R399*,ENST00000539256,,c.1195C>T,HIGH,,,,1;PLEKHA5,stop_gained,p.R533*,ENST00000536974,,c.1597C>T,HIGH,,,,1;PLEKHA5,upstream_gene_variant,,ENST00000538972,,,MODIFIER,,,,1;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000538068,,n.487C>T,MODIFIER,,,,1;PLEKHA5,downstream_gene_variant,,ENST00000537027,,,MODIFIER,,,,1;PLEKHA5,downstream_gene_variant,,ENST00000538677,,,MODIFIER,,,,1","T","ENSG00000052126","ENST00000299275","Transcript","stop_gained","stop_gained","1927/4238","1921/3351","641/1116","R/*","Cga/Tga","COSV54703306",null,1,"PLEKHA5","HGNC","HGNC:30036","protein_coding",null,"CCDS8682.1","ENSP00000299275","Q9HAU0.182",null,"UPI0000040B78","Q9HAU0-1","NM_019012.6",null,"A2",{"$nulls":3},"14/26",null,"PANTHER:PTHR12752;PANTHER:PTHR12752:SF3",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,null,"TAAGCCGATTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM937770;COSM937771","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RECQL",5965,"BI","GRCh38","chr12",21477928,21477928,"+","Missense_Mutation","SNP","C","C","T","rs202110155",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.742G>A","p.Ala248Thr","p.A248T","ENST00000421138","2024-08-16",106,68,38,122,null,null,"RECQL,missense_variant,p.A248T,ENST00000444129,NM_032941.2&NM_002907.4,c.742G>A,MODERATE,YES,tolerated(0.38),benign(0.003),-1;RECQL,missense_variant,p.A248T,ENST00000421138,,c.742G>A,MODERATE,,tolerated(0.38),benign(0.003),-1","T","ENSG00000004700","ENST00000421138","Transcript","missense_variant","missense_variant","972/2572","742/1950","248/649","A/T","Gca/Aca","rs202110155;COSV69658591",null,-1,"RECQL","HGNC","HGNC:9948","protein_coding",null,"CCDS31756.1","ENSP00000395449","P46063.204","A0A024RAV2.53","UPI0000167E2F",{"$nulls":3},"P1",null,"tolerated(0.38)","benign(0.003)","2024-08-16",null,"PDB-ENSP_mappings:2v1x.A;PDB-ENSP_mappings:2v1x.B;PDB-ENSP_mappings:2wwy.A;PDB-ENSP_mappings:2wwy.B;PDB-ENSP_mappings:4u7d.A;PDB-ENSP_mappings:4u7d.B;PDB-ENSP_mappings:4u7d.C;PDB-ENSP_mappings:4u7d.D;PROSITE_profiles:PS51192;CDD:cd18015;PANTHER:PTHR13710:SF72;PANTHER:PTHR13710;Pfam:PF00270;Gene3D:3.40.50.300;TIGRFAM:TIGR00614;SMART:SM00487;Superfamily:SSF52540",0.0002,0,0,1E-3,0,0,null,null,0.0001446,0,0.0001765,0,1.145E-3,0,"7.085e-05",0.0001645,0,1.145E-3,"gnomAD_EAS","3.3802498364821076e-05","2.4316699636983685e-05",0,0.000132572997245006,0,0.000402901001507416,0,0,0,0,0,0.000402901001507416,"eas","uncertain_significance","0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"TGATGCGTTAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM172884","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KRAS",3845,"BI","GRCh38","chr12",25245350,25245350,"+","Missense_Mutation","SNP","C","C","T","rs121913529",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.35G>A","p.Gly12Asp","p.G12D","ENST00000256078","2024-02-06",25,17,8,26,null,null,"KRAS,missense_variant,p.G12D,ENST00000256078,NM_001369786.1&NM_033360.4,c.35G>A,MODERATE,YES,deleterious(0),benign(0.303),-1;KRAS,missense_variant,p.G12D,ENST00000311936,NM_001369787.1&NM_004985.5,c.35G>A,MODERATE,,deleterious(0),benign(0.21),-1;KRAS,missense_variant,p.G12D,ENST00000556131,,c.35G>A,MODERATE,,deleterious(0),benign(0.039),-1;KRAS,missense_variant,p.G12D,ENST00000557334,,c.35G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.969),-1","T","ENSG00000133703","ENST00000256078","Transcript","missense_variant","missense_variant","225/5430","35/570","12/189","G/D","gGt/gAt","rs121913529;COSV55497369;COSV55497419;COSV55497479",null,-1,"KRAS","HGNC","HGNC:6407","protein_coding","YES","CCDS8703.1","ENSP00000256078","P01116.240","L7RSL8.66","UPI0000133132","P01116-1","NM_001369786.1;NM_033360.4","NM_033360.4","A1",null,"deleterious(0)","benign(0.303)","2024-02-06",null,"Gene3D:3.40.50.300;PDB-ENSP_mappings:3gft.A;PDB-ENSP_mappings:3gft.B;PDB-ENSP_mappings:3gft.C;PDB-ENSP_mappings:3gft.D;PDB-ENSP_mappings:3gft.E;PDB-ENSP_mappings:3gft.F;PDB-ENSP_mappings:4dsn.A;PDB-ENSP_mappings:4dso.A;PDB-ENSP_mappings:4dst.A;PDB-ENSP_mappings:4dsu.A;PDB-ENSP_mappings:4epr.A;PDB-ENSP_mappings:4ept.A;PDB-ENSP_mappings:4epv.A;PDB-ENSP_mappings:4epw.A;PDB-ENSP_mappings:4epx.A;PDB-ENSP_mappings:4epy.A;PDB-ENSP_mappings:4l8g.A;PDB-ENSP_mappings:4ldj.A;PDB-ENSP_mappings:4lpk.A;PDB-ENSP_mappings:4lpk.B;PDB-ENSP_mappings:4lrw.A;PDB-ENSP_mappings:4lrw.B;PDB-ENSP_mappings:4luc.A;PDB-ENSP_mappings:4luc.B;PDB-ENSP_mappings:4lv6.A;PDB-ENSP_mappings:4lv6.B;PDB-ENSP_mappings:4lyf.A;PDB-ENSP_mappings:4lyf.B;PDB-ENSP_mappings:4lyf.C;PDB-ENSP_mappings:4lyh.A;PDB-ENSP_mappings:4lyh.B;PDB-ENSP_mappings:4lyh.C;PDB-ENSP_mappings:4lyj.A;PDB-ENSP_mappings:4m1o.A;PDB-ENSP_mappings:4m1o.B;PDB-ENSP_mappings:4m1o.C;PDB-ENSP_mappings:4m1s.A;PDB-ENSP_mappings:4m1s.B;PDB-ENSP_mappings:4m1s.C;PDB-ENSP_mappings:4m1t.A;PDB-ENSP_mappings:4m1t.B;PDB-ENSP_mappings:4m1t.C;PDB-ENSP_mappings:4m1w.A;PDB-ENSP_mappings:4m1w.B;PDB-ENSP_mappings:4m1w.C;PDB-ENSP_mappings:4m1y.A;PDB-ENSP_mappings:4m1y.B;PDB-ENSP_mappings:4m1y.C;PDB-ENSP_mappings:4m21.A;PDB-ENSP_mappings:4m21.B;PDB-ENSP_mappings:4m21.C;PDB-ENSP_mappings:4m22.A;PDB-ENSP_mappings:4m22.B;PDB-ENSP_mappings:4m22.C;PDB-ENSP_mappings:4nmm.A;PDB-ENSP_mappings:4obe.A;PDB-ENSP_mappings:4obe.B;PDB-ENSP_mappings:4pzy.A;PDB-ENSP_mappings:4pzy.B;PDB-ENSP_mappings:4pzz.A;PDB-ENSP_mappings:4q01.A;PDB-ENSP_mappings:4q01.B;PDB-ENSP_mappings:4q02.A;PDB-ENSP_mappings:4q03.A;PDB-ENSP_mappings:4ql3.A;PDB-ENSP_mappings:4tq9.A;PDB-ENSP_mappings:4tq9.B;PDB-ENSP_mappings:4tqa.A;PDB-ENSP_mappings:4tqa.B;PDB-ENSP_mappings:4wa7.A;PDB-ENSP_mappings:5f2e.A;PDB-ENSP_mappings:5kyk.A;PDB-ENSP_mappings:5kyk.B;PDB-ENSP_mappings:5kyk.C;PDB-ENSP_mappings:5mla.A;PDB-ENSP_mappings:5mlb.A;PDB-ENSP_mappings:5mlb.C;PDB-ENSP_mappings:5mlb.E;PDB-ENSP_mappings:5mlb.G;PDB-ENSP_mappings:5o2s.A;PDB-ENSP_mappings:5o2s.C;PDB-ENSP_mappings:5o2s.E;PDB-ENSP_mappings:5o2s.G;PDB-ENSP_mappings:5o2t.A;PDB-ENSP_mappings:5ocg.A;PDB-ENSP_mappings:5oco.A;PDB-ENSP_mappings:5oco.B;PDB-ENSP_mappings:5oco.C;PDB-ENSP_mappings:5oco.D;PDB-ENSP_mappings:5oco.E;PDB-ENSP_mappings:5oco.F;PDB-ENSP_mappings:5oct.A;PDB-ENSP_mappings:5oct.B;PDB-ENSP_mappings:5oct.C;PDB-ENSP_mappings:5oct.D;PDB-ENSP_mappings:5oct.E;PDB-ENSP_mappings:5oct.F;PDB-ENSP_mappings:5tar.A;PDB-ENSP_mappings:5tb5.A;PDB-ENSP_mappings:5tb5.C;PDB-ENSP_mappings:5ufe.A;PDB-ENSP_mappings:5ufq.A;PDB-ENSP_mappings:5ufq.B;PDB-ENSP_mappings:5uk9.A;PDB-ENSP_mappings:5uk9.B;PDB-ENSP_mappings:5uqw.A;PDB-ENSP_mappings:5uqw.B;PDB-ENSP_mappings:5us4.A;PDB-ENSP_mappings:5us4.B;PDB-ENSP_mappings:5usj.A;PDB-ENSP_mappings:5usj.B;PDB-ENSP_mappings:5usj.C;PDB-ENSP_mappings:5usj.D;PDB-ENSP_mappings:5usj.E;PDB-ENSP_mappings:5usj.F;PDB-ENSP_mappings:5v6s.A;PDB-ENSP_mappings:5v6v.A;PDB-ENSP_mappings:5v6v.B;PDB-ENSP_mappings:5v71.A;PDB-ENSP_mappings:5v71.B;PDB-ENSP_mappings:5v71.C;PDB-ENSP_mappings:5v71.D;PDB-ENSP_mappings:5v71.E;PDB-ENSP_mappings:5v71.F;PDB-ENSP_mappings:5v9l.A;PDB-ENSP_mappings:5v9l.B;PDB-ENSP_mappings:5v9l.C;PDB-ENSP_mappings:5v9o.A;PDB-ENSP_mappings:5v9u.A;PDB-ENSP_mappings:5v9u.B;PDB-ENSP_mappings:5vbm.A;PDB-ENSP_mappings:5vp7.A;PDB-ENSP_mappings:5vp7.F;PDB-ENSP_mappings:5vpi.A;PDB-ENSP_mappings:5vpi.B;PDB-ENSP_mappings:5vpy.A;PDB-ENSP_mappings:5vpy.B;PDB-ENSP_mappings:5vpz.A;PDB-ENSP_mappings:5vpz.B;PDB-ENSP_mappings:5vq0.A;PDB-ENSP_mappings:5vq0.B;PDB-ENSP_mappings:5vq1.A;PDB-ENSP_mappings:5vq1.B;PDB-ENSP_mappings:5vq2.A;PDB-ENSP_mappings:5vq2.B;PDB-ENSP_mappings:5vq6.A;PDB-ENSP_mappings:5vq6.B;PDB-ENSP_mappings:5vq8.A;PDB-ENSP_mappings:5vq8.B;PDB-ENSP_mappings:5w22.A;PDB-ENSP_mappings:5w22.B;PDB-ENSP_mappings:5wha.A;PDB-ENSP_mappings:5wha.D;PDB-ENSP_mappings:5wha.G;PDB-ENSP_mappings:5wha.J;PDB-ENSP_mappings:5whb.A;PDB-ENSP_mappings:5whb.D;PDB-ENSP_mappings:5whb.G;PDB-ENSP_mappings:5whb.J;PDB-ENSP_mappings:5whd.A;PDB-ENSP_mappings:5whd.B;PDB-ENSP_mappings:5whd.C;PDB-ENSP_mappings:5whd.D;PDB-ENSP_mappings:5whe.A;PDB-ENSP_mappings:5whe.D;PDB-ENSP_mappings:5whe.G;PDB-ENSP_mappings:5whe.J;PDB-ENSP_mappings:5wlb.A;PDB-ENSP_mappings:5wlb.D;PDB-ENSP_mappings:5wpm.A;PDB-ENSP_mappings:5xco.A;PDB-ENSP_mappings:5yxz.A;PDB-ENSP_mappings:5yy1.A;PDB-ENSP_mappings:6ark.A;PDB-ENSP_mappings:6asa.A;PDB-ENSP_mappings:6ase.A;PDB-ENSP_mappings:6b0v.A;PDB-ENSP_mappings:6b0v.B;PDB-ENSP_mappings:6b0y.A;PDB-ENSP_mappings:6b0y.B;PDB-ENSP_mappings:6bof.A;PDB-ENSP_mappings:6bof.B;PDB-ENSP_mappings:6bp1.A;PDB-ENSP_mappings:6cc9.B;PDB-ENSP_mappings:6cch.B;PDB-ENSP_mappings:6ccx.B;PDB-ENSP_mappings:6cu6.A;PDB-ENSP_mappings:6cu6.B;PDB-ENSP_mappings:6cu6.C;PDB-ENSP_mappings:6e6f.A;PDB-ENSP_mappings:6e6f.B;PDB-ENSP_mappings:6e6g.A;PDB-ENSP_mappings:6epl.R;PDB-ENSP_mappings:6epm.R;PDB-ENSP_mappings:6epn.R;PDB-ENSP_mappings:6epo.R;PDB-ENSP_mappings:6epp.R;PDB-ENSP_mappings:6f76.A;PDB-ENSP_mappings:6f76.B;PDB-ENSP_mappings:6f76.C;PDB-ENSP_mappings:6f76.D;PDB-ENSP_mappings:6f76.E;PDB-ENSP_mappings:6f76.F;PDB-ENSP_mappings:6fa1.A;PDB-ENSP_mappings:6fa1.B;PDB-ENSP_mappings:6fa1.C;PDB-ENSP_mappings:6fa1.D;PDB-ENSP_mappings:6fa1.E;PDB-ENSP_mappings:6fa1.F;PDB-ENSP_mappings:6fa2.A;PDB-ENSP_mappings:6fa2.B;PDB-ENSP_mappings:6fa2.C;PDB-ENSP_mappings:6fa2.D;PDB-ENSP_mappings:6fa2.E;PDB-ENSP_mappings:6fa2.F;PDB-ENSP_mappings:6fa3.A;PDB-ENSP_mappings:6fa3.B;PDB-ENSP_mappings:6fa3.C;PDB-ENSP_mappings:6fa3.D;PDB-ENSP_mappings:6fa3.E;PDB-ENSP_mappings:6fa3.F;PDB-ENSP_mappings:6fa4.A;PDB-ENSP_mappings:6fa4.B;PDB-ENSP_mappings:6fa4.C;PDB-ENSP_mappings:6fa4.D;PDB-ENSP_mappings:6fa4.E;PDB-ENSP_mappings:6fa4.F;PDB-ENSP_mappings:6gj5.A;PDB-ENSP_mappings:6gj5.B;PDB-ENSP_mappings:6gj6.A;PDB-ENSP_mappings:6gj7.A;PDB-ENSP_mappings:6gj8.A;PDB-ENSP_mappings:6god.A;PDB-ENSP_mappings:6goe.A;PDB-ENSP_mappings:6gof.A;PDB-ENSP_mappings:6gog.A;PDB-ENSP_mappings:6gog.B;PDB-ENSP_mappings:6gog.C;PDB-ENSP_mappings:6gog.D;PDB-ENSP_mappings:6gog.E;PDB-ENSP_mappings:6gog.F;PDB-ENSP_mappings:6gom.A;PDB-ENSP_mappings:6gom.B;PDB-ENSP_mappings:6gom.C;PDB-ENSP_mappings:6gom.D;PDB-ENSP_mappings:6gom.E;PDB-ENSP_mappings:6gom.F;PDB-ENSP_mappings:6gqt.A;PDB-ENSP_mappings:6gqt.B;PDB-ENSP_mappings:6gqt.C;PDB-ENSP_mappings:6gqt.D;PDB-ENSP_mappings:6gqt.E;PDB-ENSP_mappings:6gqt.F;PDB-ENSP_mappings:6gqw.A;PDB-ENSP_mappings:6gqw.B;PDB-ENSP_mappings:6gqw.C;PDB-ENSP_mappings:6gqw.D;PDB-ENSP_mappings:6gqw.E;PDB-ENSP_mappings:6gqw.F;PDB-ENSP_mappings:6gqx.A;PDB-ENSP_mappings:6gqx.B;PDB-ENSP_mappings:6gqx.C;PDB-ENSP_mappings:6gqx.D;PDB-ENSP_mappings:6gqx.E;PDB-ENSP_mappings:6gqx.F;PDB-ENSP_mappings:6gqy.A;PDB-ENSP_mappings:6gqy.B;PDB-ENSP_mappings:6gqy.C;PDB-ENSP_mappings:6gqy.D;PDB-ENSP_mappings:6gqy.E;PDB-ENSP_mappings:6gqy.F;PDB-ENSP_mappings:6h46.A;PDB-ENSP_mappings:6h47.A;PDB-ENSP_mappings:6m9w.A;PDB-ENSP_mappings:6mbq.A;PDB-ENSP_mappings:6mbt.A;PDB-ENSP_mappings:6mbt.B;PDB-ENSP_mappings:6mbu.A;PDB-ENSP_mappings:6mbu.B;PDB-ENSP_mappings:6mnx.A;PDB-ENSP_mappings:6mnx.B;PDB-ENSP_mappings:6mnx.C;PDB-ENSP_mappings:6mnx.D;PDB-ENSP_mappings:6mnx.E;PDB-ENSP_mappings:6mnx.F;PDB-ENSP_mappings:6mqg.A;PDB-ENSP_mappings:6mqn.A;PDB-ENSP_mappings:6mqn.B;PDB-ENSP_mappings:6mqn.C;PDB-ENSP_mappings:6ms9.A;PDB-ENSP_mappings:6ms9.B;PDB-ENSP_mappings:6ms9.C;PDB-ENSP_mappings:6mta.A;PDB-ENSP_mappings:6mta.B;PDB-ENSP_mappings:6mta.C;PDB-ENSP_mappings:6n2j.A;PDB-ENSP_mappings:6n2k.A;PDB-ENSP_mappings:6o36.A;PDB-ENSP_mappings:6o36.B;PDB-ENSP_mappings:6o36.C;PDB-ENSP_mappings:6o46.A;PDB-ENSP_mappings:6o46.B;PDB-ENSP_mappings:6o46.C;PDB-ENSP_mappings:6o4y.C;PDB-ENSP_mappings:6o4z.C;PDB-ENSP_mappings:6o51.C;PDB-ENSP_mappings:6o53.C;PDB-ENSP_mappings:6ob2.A;PDB-ENSP_mappings:6ob2.C;PDB-ENSP_mappings:6ob3.A;PDB-ENSP_mappings:6ob3.C;PDB-ENSP_mappings:6oim.A;PDB-ENSP_mappings:6p0z.A;PDB-ENSP_mappings:6p0z.B;PDB-ENSP_mappings:6p8w.A;PDB-ENSP_mappings:6p8w.B;PDB-ENSP_mappings:6p8x.A;PDB-ENSP_mappings:6p8x.B;PDB-ENSP_mappings:6p8x.C;PDB-ENSP_mappings:6p8x.D;PDB-ENSP_mappings:6p8y.A;PDB-ENSP_mappings:6p8y.B;PDB-ENSP_mappings:6p8z.A;PDB-ENSP_mappings:6p8z.B;PDB-ENSP_mappings:6pgo.A;PDB-ENSP_mappings:6pgo.B;PDB-ENSP_mappings:6pgp.A;PDB-ENSP_mappings:6pgp.B;PDB-ENSP_mappings:6pq3.A;PDB-ENSP_mappings:6pts.B;PDB-ENSP_mappings:6ptw.B;PDB-ENSP_mappings:6quu.A;PDB-ENSP_mappings:6quu.B;PDB-ENSP_mappings:6quv.A;PDB-ENSP_mappings:6quv.B;PDB-ENSP_mappings:6quw.A;PDB-ENSP_mappings:6quw.B;PDB-ENSP_mappings:6qux.A;PDB-ENSP_mappings:6qux.B;PDB-ENSP_mappings:6t5b.A;PDB-ENSP_mappings:6t5u.B;PDB-ENSP_mappings:6t5v.A;PDB-ENSP_mappings:6tam.A;PDB-ENSP_mappings:6tan.A;PDB-ENSP_mappings:6usx.A;PDB-ENSP_mappings:6usx.B;PDB-ENSP_mappings:6usz.A;PDB-ENSP_mappings:6ut0.A;PDB-ENSP_mappings:6ut0.B;PDB-ENSP_mappings:6ut0.C;PDB-ENSP_mappings:6ut0.D;PDB-ENSP_mappings:6v5l.A;PDB-ENSP_mappings:6w4e.B;PDB-ENSP_mappings:6w4e.C;PDB-ENSP_mappings:6w4f.B;PDB-ENSP_mappings:6w4f.C;Pfam:PF00071;Prints:PR00449;PROSITE_profiles:PS51421;PANTHER:PTHR24070;PANTHER:PTHR24070:SF388;SMART:SM00173;SMART:SM00174;SMART:SM00175;SMART:SM00176;Superfamily:SSF52540;TIGRFAM:TIGR00231;CDD:cd04138;Low_complexity_(Seg):seg",{"$nulls":8},"4.011e-06",0,0,0,0,0,"8.883e-06",0,0,"8.883e-06","gnomAD_NFE","1.3518800187739544e-05",0,0,0,0,0,0,0,"3.086130163865164e-05",0,0,"3.086130163865164e-05","nfe","pathogenic;likely_pathogenic","0;1;1;1","25157968;19029981;2278970;3122217;12460918;16434492;19075190;22407852;22499344;19018267;21975775;17704260;19255327;17384584;19773371;22683711;23406027;15696205;16361624;16618717;18316791;18794081;19114683;19679400;20921462;20921465;21228335;17332249;19794967;21398618;23182985;19047918;7773929;8439212;15842656;17910045;19358724;19881948;20609353;20805368;20949522;21079152;21169357;22025163;22235099;22282465;22897852;23014527;25044103;26372703;27872090;29525983;30463544;29721857;29298116;31949278",{"$nulls":6},"MODERATE",1,"SNV",1,null,"1;1;1;1",1,"CGCCACCAGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1135366;COSM521","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GXYLT1",283464,"BI","GRCh38","chr12",42087883,42087884,"+","Frame_Shift_Ins","INS","-","-","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1225dup","p.Thr409AsnfsTer70","p.T409Nfs*70","ENST00000398675","2024-08-08",50,35,14,68,null,null,"GXYLT1,frameshift_variant,p.T409Nfs*70,ENST00000398675,NM_173601.2,c.1225dup,HIGH,YES,,,-1;GXYLT1,frameshift_variant,p.T378Nfs*70,ENST00000280876,NM_001099650.2,c.1132dup,HIGH,,,,-1","T","ENSG00000151233","ENST00000398675","Transcript","frameshift_variant","frameshift_variant","1453-1454/7492","1225-1226/1323","409/440","T/NX","aca/aAca",null,null,-1,"GXYLT1","HGNC","HGNC:27482","protein_coding","YES","CCDS41772.1","ENSP00000381666","Q4G148.124",null,"UPI0000237587","Q4G148-1","NM_173601.2","NM_173601.2","P4",{"$nulls":3},"2024-08-08",null,"PANTHER:PTHR46012;PANTHER:PTHR46012:SF3;CDD:cd06430",{"$nulls":41},"HIGH",1,"insertion",1,{"$nulls":3},"GCACTGTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM5739614;COSM5739615","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["NELL2",4753,"BI","GRCh38","chr12",44774773,44774773,"+","Missense_Mutation","SNP","T","T","C","rs757940415",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.968A>G","p.Asp323Gly","p.D323G","ENST00000429094","2024-09-20",70,53,17,68,null,null,"NELL2,missense_variant,p.D323G,ENST00000429094,NM_001145108.2,c.968A>G,MODERATE,,tolerated(0.16),benign(0.419),-1;NELL2,missense_variant,p.D373G,ENST00000437801,NM_001145107.1,c.1118A>G,MODERATE,YES,tolerated(0.15),benign(0.02),-1;NELL2,missense_variant,p.D322G,ENST00000395487,NM_001145109.1,c.965A>G,MODERATE,,tolerated(0.15),benign(0.013),-1;NELL2,missense_variant,p.D323G,ENST00000452445,NM_006159.2,c.968A>G,MODERATE,,tolerated(0.16),benign(0.419),-1;NELL2,missense_variant,p.D322G,ENST00000551601,,c.965A>G,MODERATE,,tolerated(0.18),benign(0.295),-1;NELL2,missense_variant,p.D322G,ENST00000549027,,c.965A>G,MODERATE,,tolerated(0.15),benign(0.013),-1;NELL2,missense_variant,p.D346G,ENST00000333837,NM_001145110.1,c.1037A>G,MODERATE,,tolerated(0.16),possibly_damaging(0.652),-1;NELL2,missense_variant,p.D72G,ENST00000550313,,c.215A>G,MODERATE,,tolerated(0.11),benign(0.341),-1;NELL2,missense_variant,p.D96G,ENST00000550462,,c.287A>G,MODERATE,,tolerated(0.06),possibly_damaging(0.476),-1;NELL2,downstream_gene_variant,,ENST00000552993,,,MODIFIER,,,,-1;NELL2,downstream_gene_variant,,ENST00000547172,,,MODIFIER,,,,-1;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,,n.1414A>G,MODIFIER,,,,-1","C","ENSG00000184613","ENST00000429094","Transcript","missense_variant","missense_variant","1414/3553","968/2451","323/816","D/G","gAt/gGt","rs757940415;COSV61577341",null,-1,"NELL2","HGNC","HGNC:7751","protein_coding",null,"CCDS8746.1","ENSP00000390680","Q99435.175","A0A024R0X1.54","UPI0000001063","Q99435-1","NM_001145108.2","NM_001145108.2","P1",null,"tolerated(0.16)","benign(0.419)","2024-09-20",null,"Pfam:PF00093;PROSITE_patterns:PS01208;PROSITE_profiles:PS50184;PANTHER:PTHR24042;PANTHER:PTHR24042:SF0;SMART:SM00214;SMART:SM00215;Superfamily:SSF57603",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TGCCATCCACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4041918;COSM4041919;COSM4041920","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DDN",23109,"BI","GRCh38","chr12",48998091,48998091,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.785C>T","p.Ala262Val","p.A262V","ENST00000421952","2024-02-02",123,83,40,116,null,null,"DDN,missense_variant,p.A262V,ENST00000421952,NM_015086.2,c.785C>T,MODERATE,YES,tolerated_low_confidence(0.08),benign(0.005),-1;PRKAG1,downstream_gene_variant,,ENST00000316299,NM_001206709.2,,MODIFIER,YES,,,-1;PRKAG1,downstream_gene_variant,,ENST00000547306,,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000548065,NM_002733.5,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000548362,,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000551696,,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000551770,,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000552212,NM_001206710.2,,MODIFIER,,,,-1;PRKAG1,downstream_gene_variant,,ENST00000546531,,,MODIFIER,,,,-1;DDN-AS1,upstream_gene_variant,,ENST00000547395,,,MODIFIER,,,,1;DDN-AS1,upstream_gene_variant,,ENST00000547866,,,MODIFIER,YES,,,1;AC011603.3,downstream_gene_variant,,ENST00000549516,,,MODIFIER,YES,,,1;DDN-AS1,upstream_gene_variant,,ENST00000552284,,,MODIFIER,,,,1;DDN-AS1,upstream_gene_variant,,ENST00000552933,,,MODIFIER,,,,1","A","ENSG00000181418","ENST00000421952","Transcript","missense_variant","missense_variant","873/3815","785/2136","262/711","A/V","gCc/gTc","COSV60293167",null,-1,"DDN","HGNC","HGNC:24458","protein_coding","YES","CCDS31791.2","ENSP00000390590","O94850.121",null,"UPI000019821C",null,"NM_015086.2","NM_015086.2","P1",null,"tolerated_low_confidence(0.08)","benign(0.005)","2024-02-02",null,"Pfam:PF15498;PANTHER:PTHR16757;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCCTGGCTGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4042314;COSM4042315","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCNH3",23416,"BI","GRCh38","chr12",49554537,49554537,"+","Frame_Shift_Del","DEL","G","G","-","rs1229306184",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2123del","p.Gly708GlufsTer11","p.G708Efs*11","ENST00000257981","2024-11-15",81,61,20,76,null,null,"KCNH3,frameshift_variant,p.G708Efs*11,ENST00000257981,NM_012284.3&NM_001314030.2,c.2123del,HIGH,YES,,,1;MCRS1,downstream_gene_variant,,ENST00000343810,NM_006337.5,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000357123,NM_001012300.1,,MODIFIER,YES,,,-1;MCRS1,downstream_gene_variant,,ENST00000546244,NM_001278341.1,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000550165,,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000551598,,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000547182,,,MODIFIER,,,,-1;KCNH3,3_prime_UTR_variant,,ENST00000649994,,c.*1733del,MODIFIER,,,,1;MCRS1,downstream_gene_variant,,ENST00000548602,,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000548646,,,MODIFIER,,,,-1;KCNH3,upstream_gene_variant,,ENST00000548675,,,MODIFIER,,,,1;MCRS1,downstream_gene_variant,,ENST00000549000,,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000551625,,,MODIFIER,,,,-1;MCRS1,downstream_gene_variant,,ENST00000552596,,,MODIFIER,,,,-1","-","ENSG00000135519","ENST00000257981","Transcript","frameshift_variant","frameshift_variant","2506/4023","2119/3252","707/1083","G/X","Ggg/gg","rs1229306184",null,1,"KCNH3","HGNC","HGNC:6252","protein_coding","YES","CCDS8786.1","ENSP00000257981","Q9ULD8.172",null,"UPI000012DCA6",null,"NM_012284.3;NM_001314030.2","NM_012284.3","P1",{"$nulls":3},"2024-11-15",null,"Gene3D:2.60.120.10;PANTHER:PTHR10217;PANTHER:PTHR10217:SF481",{"$nulls":8},"8.013e-06",0,0,0,0,"4.73e-05","8.891e-06",0,0,"4.73e-05","gnomAD_FIN",{"$nulls":22},"HIGH",1,"deletion",1,4,null,null,"GGTGCTGGGGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1362120","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PRPF40B",25766,"BI","GRCh38","chr12",49631475,49631475,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.99del","p.Met34CysfsTer29","p.M34Cfs*29","ENST00000380281","2024-02-25",194,142,51,153,null,null,"PRPF40B,frameshift_variant,p.M28Cfs*29,ENST00000261897,NM_012272.3,c.81del,HIGH,,,,1;PRPF40B,frameshift_variant,p.M56Cfs*29,ENST00000548825,NM_001363607.2&NM_001031698.3&NM_001379030.1&NM_001379033.1&NM_001379034.1&NM_001379031.1&NM_001379032.1&NM_001379035.1&NM_001379036.1&NM_001379037.1,c.165del,HIGH,YES,,,1;PRPF40B,frameshift_variant,p.M34Cfs*29,ENST00000380281,,c.99del,HIGH,,,,1;PRPF40B,downstream_gene_variant,,ENST00000551063,,,MODIFIER,,,,1;PRPF40B,non_coding_transcript_exon_variant,,ENST00000548436,,n.105del,MODIFIER,,,,1;PRPF40B,non_coding_transcript_exon_variant,,ENST00000551111,,n.163del,MODIFIER,,,,1;PRPF40B,non_coding_transcript_exon_variant,,ENST00000551418,,n.342del,MODIFIER,,,,1;PRPF40B,upstream_gene_variant,,ENST00000551320,,,MODIFIER,,,,1","-","ENSG00000110844","ENST00000380281","Transcript","frameshift_variant","frameshift_variant","157/3154","93/2616","31/871","I/X","atC/at","COSV56058435",null,1,"PRPF40B","HGNC","HGNC:25031","protein_coding",null,"CCDS86298.1","ENSP00000369634","Q6NWY9.133",null,"UPI000034E5B3","Q6NWY9-1",null,null,"P4",{"$nulls":3},"2024-02-25",null,"PANTHER:PTHR11864;PANTHER:PTHR11864:SF1;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"deletion",1,6,1,1,"AGCTATCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1362138","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ASIC1",41,"BI","GRCh38","chr12",50078532,50078532,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.949C>T","p.Arg317Cys","p.R317C","ENST00000447966","2024-06-12",218,145,73,212,null,null,"ASIC1,missense_variant,p.R317C,ENST00000228468,NM_020039.4,c.949C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.888),1;ASIC1,missense_variant,p.R317C,ENST00000447966,NM_001095.4,c.949C>T,MODERATE,,deleterious(0),probably_damaging(0.97),1;ASIC1,missense_variant,p.R351C,ENST00000552438,NM_001256830.1,c.1051C>T,MODERATE,,deleterious(0),probably_damaging(0.985),1;ASIC1,missense_variant,p.R185C,ENST00000453327,,c.553C>T,MODERATE,,deleterious(0),probably_damaging(0.924),1;ASIC1,upstream_gene_variant,,ENST00000552633,,,MODIFIER,,,,1;ASIC1,3_prime_UTR_variant,,ENST00000550558,,c.*239C>T,MODIFIER,,,,1;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,,n.545C>T,MODIFIER,,,,1;ASIC1,non_coding_transcript_exon_variant,,ENST00000548350,,n.71C>T,MODIFIER,,,,1;ASIC1,downstream_gene_variant,,ENST00000549792,,,MODIFIER,,,,1","T","ENSG00000110881","ENST00000447966","Transcript","missense_variant","missense_variant","1286/3886","949/1587","317/528","R/C","Cgc/Tgc","COSV57318516",null,1,"ASIC1","HGNC","HGNC:100","protein_coding",null,"CCDS44876.1","ENSP00000400228","P78348.179",null,"UPI000016199C","P78348-2","NM_001095.4","NM_001095.4","P1",null,"deleterious(0)","probably_damaging(0.97)","2024-06-12",null,"Gene3D:1.10.287.770;Gene3D:1.10.287.820;Gene3D:2.60.470.10;Pfam:PF00858;PROSITE_patterns:PS01206;PANTHER:PTHR11690;PANTHER:PTHR11690:SF170;TIGRFAM:TIGR00859",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AGACGCGCTAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4042577","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KRT83",3889,"BI","GRCh38","chr12",52320952,52320952,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.384G>T","p.Lys128Asn","p.K128N","ENST00000293670","2024-01-09",176,110,66,232,null,null,"KRT83,missense_variant,p.K128N,ENST00000293670,NM_002282.3,c.384G>T,MODERATE,YES,deleterious(0),probably_damaging(0.987),-1","A","ENSG00000170523","ENST00000293670","Transcript","missense_variant","missense_variant;splice_region_variant","447/1875","384/1482","128/493","K/N","aaG/aaT","COSV53340802",null,-1,"KRT83","HGNC","HGNC:6460","protein_coding","YES","CCDS8823.1","ENSP00000293670","P78385.164",null,"UPI0000070AF2",null,"NM_002282.3","NM_002282.3","P1",null,"deleterious(0)","probably_damaging(0.987)","2024-01-09",null,"Pfam:PF00038;PROSITE_profiles:PS51842;PANTHER:PTHR45616;PANTHER:PTHR45616:SF41;SMART:SM01391;Superfamily:SSF57184;Superfamily:SSF64593",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCCACCTTGTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4042818","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NCKAP1L",3071,"BI","GRCh38","chr12",54517927,54517927,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1327G>A","p.Asp443Asn","p.D443N","ENST00000293373","13/31",129,87,42,121,null,null,"NCKAP1L,missense_variant,p.D443N,ENST00000293373,NM_005337.5,c.1327G>A,MODERATE,YES,tolerated(0.17),probably_damaging(0.969),1;NCKAP1L,missense_variant,p.D393N,ENST00000545638,NM_001184976.2,c.1177G>A,MODERATE,,tolerated(0.16),probably_damaging(0.969),1;NCKAP1L,downstream_gene_variant,,ENST00000552211,,,MODIFIER,,,,1;NCKAP1L,missense_variant,p.D443N,ENST00000548221,,c.1327G>A,MODERATE,,tolerated(0.13),benign(0.044),1;NCKAP1L,upstream_gene_variant,,ENST00000549451,,,MODIFIER,,,,1","A","ENSG00000123338","ENST00000293373","Transcript","missense_variant","missense_variant","1365/8980","1327/3384","443/1127","D/N","Gac/Aac","COSV53208189",null,1,"NCKAP1L","HGNC","HGNC:4862","protein_coding","YES","CCDS31813.1","ENSP00000293373","P55160.153",null,"UPI00001C0439","P55160-1","NM_005337.5","NM_005337.5","P1",null,"tolerated(0.17)","probably_damaging(0.969)","13/31",null,"PANTHER:PTHR12093:SF9;PANTHER:PTHR12093;Pfam:PF09735",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCAGTGACATC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4043212","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZC3H10",84872,"BI","GRCh38","chr12",56121104,56121104,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.542T>C","p.Val181Ala","p.V181A","ENST00000257940","2024-03-03",118,69,49,116,null,null,"ZC3H10,missense_variant,p.V181A,ENST00000257940,NM_001303124.2&NM_032786.3&NM_001303125.2,c.542T>C,MODERATE,YES,tolerated(0.51),benign(0),1;ESYT1,intron_variant,,ENST00000551790,,c.-144+1953T>C,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000501597,,,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000546591,NM_001035267.2&NM_021104.2,,MODIFIER,YES,,,1;ZC3H10,downstream_gene_variant,,ENST00000546903,,,MODIFIER,,,,1;ZC3H10,downstream_gene_variant,,ENST00000551880,,,MODIFIER,,,,1;ZC3H10,downstream_gene_variant,,ENST00000552345,,,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000358888,,,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000546485,,,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000546654,,,MODIFIER,,,,1;ZC3H10,downstream_gene_variant,,ENST00000549973,,,MODIFIER,,,,1;RPL41,downstream_gene_variant,,ENST00000552314,,,MODIFIER,,,,1;AC034102.6,intron_variant,,ENST00000549438,,n.536-68A>G,MODIFIER,YES,,,-1;AC034102.6,intron_variant,,ENST00000550947,,n.527-1039A>G,MODIFIER,,,,-1;AC034102.7,upstream_gene_variant,,ENST00000550840,,,MODIFIER,YES,,,-1","C","ENSG00000135482","ENST00000257940","Transcript","missense_variant","missense_variant","711/7121","542/1305","181/434","V/A","gTc/gCc","COSV57769326",null,1,"ZC3H10","HGNC","HGNC:25893","protein_coding","YES","CCDS8903.1","ENSP00000257940","Q96K80.135",null,"UPI0000070771",null,"NM_001303124.2;NM_032786.3;NM_001303125.2","NM_032786.3","P1",null,"tolerated(0.51)","benign(0)","2024-03-03",null,"PANTHER:PTHR12675;PANTHER:PTHR12675:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTCAGTCCTCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4043479","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NAB2",4665,"BI","GRCh38","chr12",57091394,57091394,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.353C>A","p.Pro118His","p.P118H","ENST00000300131","2024-02-07",172,109,62,152,null,null,"NAB2,missense_variant,p.P118H,ENST00000300131,NM_005967.4,c.353C>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.827),1;NAB2,missense_variant,p.P118H,ENST00000342556,NM_001330305.2,c.353C>A,MODERATE,,deleterious(0.02),probably_damaging(0.916),1;STAT6,downstream_gene_variant,,ENST00000300134,NM_003153.5&NM_001178078.2,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000454075,,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000537215,NM_001178080.2,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000538913,NM_001178081.2,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000543873,NM_001178079.2,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000553533,,,MODIFIER,YES,,,-1;STAT6,downstream_gene_variant,,ENST00000556155,,,MODIFIER,,,,-1;NAB2,non_coding_transcript_exon_variant,,ENST00000554718,,n.369C>A,MODIFIER,,,,1;NAB2,non_coding_transcript_exon_variant,,ENST00000555857,,n.476C>A,MODIFIER,,,,1;NEMP1,upstream_gene_variant,,ENST00000553654,,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000554764,,,MODIFIER,,,,-1;NAB2,upstream_gene_variant,,ENST00000554839,,,MODIFIER,,,,1;STAT6,downstream_gene_variant,,ENST00000555222,,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000557563,,,MODIFIER,,,,-1;STAT6,downstream_gene_variant,,ENST00000651176,,,MODIFIER,,,,-1","A","ENSG00000166886","ENST00000300131","Transcript","missense_variant","missense_variant","511/2491","353/1578","118/525","P/H","cCt/cAt","COSV55666686",null,1,"NAB2","HGNC","HGNC:7627","protein_coding","YES","CCDS8930.1","ENSP00000300131","Q15742.166",null,"UPI000012FC41","Q15742-1","NM_005967.4","NM_005967.4","P4",null,"deleterious(0.03)","possibly_damaging(0.827)","2024-02-07",null,"PANTHER:PTHR12623:SF6;PANTHER:PTHR12623",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGTGCCTGCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4043765","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C12orf56",115749,"BI","GRCh38","chr12",64270683,64270683,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1616T>C","p.Val539Ala","p.V539A","ENST00000543942","2024-12-13",70,49,20,84,null,null,"C12orf56,missense_variant,p.V539A,ENST00000543942,NM_001170633.2,c.1616T>C,MODERATE,YES,tolerated(0.12),benign(0.143),-1;C12orf56,missense_variant,p.V379A,ENST00000333722,NM_001099676.3,c.1136T>C,MODERATE,,tolerated(0.11),benign(0.143),-1;C12orf56,non_coding_transcript_exon_variant,,ENST00000536975,,n.606T>C,MODIFIER,,,,-1;C12orf56,non_coding_transcript_exon_variant,,ENST00000542397,,n.482T>C,MODIFIER,,,,-1;AC012158.1,intron_variant,,ENST00000535684,,n.319+42698A>G,MODIFIER,YES,,,1;C12orf56,upstream_gene_variant,,ENST00000535515,,,MODIFIER,,,,-1;C12orf56,downstream_gene_variant,,ENST00000541802,,,MODIFIER,,,,-1;OOEPP2,downstream_gene_variant,,ENST00000536546,,,MODIFIER,YES,,,1","G","ENSG00000185306","ENST00000543942","Transcript","missense_variant","missense_variant","1809/4483","1616/1869","539/622","V/A","gTg/gCg","COSV61487698",null,-1,"C12orf56","HGNC","HGNC:26967","protein_coding","YES","CCDS61182.1","ENSP00000446101","Q8IXR9.102",null,"UPI0001C0B37D","Q8IXR9-1","NM_001170633.2","NM_001170633.2","P1",null,"tolerated(0.12)","benign(0.143)","2024-12-13",null,"Pfam:PF15087;PANTHER:PTHR35354",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"TCACCACTTGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4044145","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAH",5053,"BI","GRCh38","chr12",102855286,102855286,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.556A>C","p.Thr186Pro","p.T186P","ENST00000553106","2024-06-13",54,36,18,58,null,null,"PAH,missense_variant,p.T186P,ENST00000553106,NM_001354304.2&NM_000277.3,c.556A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PAH,missense_variant,p.T181P,ENST00000307000,,c.541A>C,MODERATE,,deleterious(0),probably_damaging(1),-1;PAH,upstream_gene_variant,,ENST00000635477,,,MODIFIER,,,,-1;PAH,non_coding_transcript_exon_variant,,ENST00000551988,,n.577A>C,MODIFIER,,,,-1;PAH,non_coding_transcript_exon_variant,,ENST00000549111,,n.652A>C,MODIFIER,,,,-1;PAH,upstream_gene_variant,,ENST00000549247,,,MODIFIER,,,,-1;PAH,upstream_gene_variant,,ENST00000551114,,,MODIFIER,,,,-1","G","ENSG00000171759","ENST00000553106","Transcript","missense_variant","missense_variant","670/3759","556/1359","186/452","T/P","Aca/Cca","CD130699;COSV61017450",null,-1,"PAH","HGNC","HGNC:8582","protein_coding","YES","CCDS9092.1","ENSP00000448059","P00439.239","A0A024RBG4.47","UPI00001318A0",null,"NM_001354304.2;NM_000277.3","NM_000277.3","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-06-13",null,"PDB-ENSP_mappings:1dmw.A;PDB-ENSP_mappings:1j8t.A;PDB-ENSP_mappings:1j8u.A;PDB-ENSP_mappings:1kw0.A;PDB-ENSP_mappings:1lrm.A;PDB-ENSP_mappings:1mmk.A;PDB-ENSP_mappings:1mmt.A;PDB-ENSP_mappings:1pah.A;PDB-ENSP_mappings:1tdw.A;PDB-ENSP_mappings:1tg2.A;PDB-ENSP_mappings:2pah.A;PDB-ENSP_mappings:2pah.B;PDB-ENSP_mappings:3pah.A;PDB-ENSP_mappings:4anp.A;PDB-ENSP_mappings:4pah.A;PDB-ENSP_mappings:5pah.A;PDB-ENSP_mappings:6hpo.A;PDB-ENSP_mappings:6hyc.A;PDB-ENSP_mappings:6hyc.B;PDB-ENSP_mappings:6hyc.C;PDB-ENSP_mappings:6hyc.D;PDB-ENSP_mappings:6n1k.A;PDB-ENSP_mappings:6n1k.B;PDB-ENSP_mappings:6n1k.C;PDB-ENSP_mappings:6n1k.D;PDB-ENSP_mappings:6pah.A;PROSITE_profiles:PS51410;CDD:cd03347;PANTHER:PTHR11473:SF24;PANTHER:PTHR11473;Gene3D:1.10.800.10;TIGRFAM:TIGR01268;PIRSF:PIRSF000336;Pfam:PF00351;Superfamily:SSF56534",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CCATGTTTTCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038089","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CRY1",1407,"BI","GRCh38","chr12",106999753,106999753,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.935A>C","p.Asn312Thr","p.N312T","ENST00000008527","2024-07-13",47,35,12,40,null,null,"CRY1,missense_variant,p.N312T,ENST00000008527,NM_004075.5,c.935A>C,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),-1;CRY1,upstream_gene_variant,,ENST00000549356,,,MODIFIER,,,,-1;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,,n.1494A>C,MODIFIER,,,,-1;CRY1,downstream_gene_variant,,ENST00000546722,,,MODIFIER,,,,-1","G","ENSG00000008405","ENST00000008527","Transcript","missense_variant","missense_variant","1523/2987","935/1761","312/586","N/T","aAc/aCc","COSV50484227",null,-1,"CRY1","HGNC","HGNC:2384","protein_coding","YES","CCDS9112.1","ENSP00000008527","Q16526.160","A2I2P0.110","UPI0000073E80",null,"NM_004075.5","NM_004075.5","P1",null,"deleterious(0.01)","probably_damaging(0.999)","2024-07-13",null,"PANTHER:PTHR11455;PANTHER:PTHR11455:SF16;Gene3D:1.10.579.10;Pfam:PF03441;Superfamily:SSF48173",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TAGGGTTTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038309","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["WSCD2",9671,"BI","GRCh38","chr12",108232743,108232743,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.992T>C","p.Met331Thr","p.M331T","ENST00000332082","2024-08-10",23,17,6,33,null,null,"WSCD2,missense_variant,p.M331T,ENST00000547525,NM_014653.4,c.992T>C,MODERATE,,tolerated(1),possibly_damaging(0.838),1;WSCD2,missense_variant,p.M331T,ENST00000332082,NM_001304447.2,c.992T>C,MODERATE,,tolerated(1),possibly_damaging(0.838),1;WSCD2,missense_variant,p.M331T,ENST00000549903,,c.992T>C,MODERATE,YES,tolerated(1),possibly_damaging(0.623),1;WSCD2,non_coding_transcript_exon_variant,,ENST00000546629,,n.188T>C,MODIFIER,,,,1","C","ENSG00000075035","ENST00000332082","Transcript","missense_variant","missense_variant","1810/4710","992/1698","331/565","M/T","aTg/aCg","COSV54584685",null,1,"WSCD2","HGNC","HGNC:29117","protein_coding",null,"CCDS41828.1","ENSP00000331933","Q2TBF2.107",null,"UPI00001C1F3A","Q2TBF2-1","NM_001304447.2",null,"P1",null,"tolerated(1)","possibly_damaging(0.838)","2024-08-10",null,"PANTHER:PTHR45964;PANTHER:PTHR45964:SF3;Gene3D:3.40.50.300;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TTGCATGGACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038353;COSM4038354","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SSH1",54434,"BI","GRCh38","chr12",108788716,108788716,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2422C>T","p.Gln808Ter","p.Q808*","ENST00000326495","15/15",103,67,36,120,null,null,"SSH1,stop_gained,p.Q808*,ENST00000326495,NM_018984.4,c.2422C>T,HIGH,YES,,,-1;SSH1,downstream_gene_variant,,ENST00000326470,NM_001161331.1,,MODIFIER,,,,-1;SSH1,downstream_gene_variant,,ENST00000551165,NM_001161330.2,,MODIFIER,,,,-1;SSH1,3_prime_UTR_variant,,ENST00000546433,,c.*1415C>T,MODIFIER,,,,-1","A","ENSG00000084112","ENST00000326495","Transcript","stop_gained","stop_gained","2509/13034","2422/3150","808/1049","Q/*","Cag/Tag","COSV58457243",null,-1,"SSH1","HGNC","HGNC:30579","protein_coding","YES","CCDS9121.1","ENSP00000315713","Q8WYL5.163",null,"UPI000003E894","Q8WYL5-1","NM_018984.4","NM_018984.4","P3",{"$nulls":3},"15/15",null,"PANTHER:PTHR45864:SF5;PANTHER:PTHR45864",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"GTGCTGCATCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038427","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UNG",7374,"BI","GRCh38","chr12",109101955,109101955,"+","Missense_Mutation","SNP","C","C","A","rs376918741",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.489C>A","p.His163Gln","p.H163Q","ENST00000242576","2024-04-07",83,60,23,70,null,null,"UNG,missense_variant,p.H154Q,ENST00000336865,NM_003362.4,c.462C>A,MODERATE,,deleterious(0),probably_damaging(1),1;UNG,missense_variant,p.H163Q,ENST00000242576,NM_080911.3,c.489C>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;UNG,missense_variant,p.H154Q,ENST00000539287,,c.462C>A,MODERATE,,deleterious(0.01),probably_damaging(1),1;UNG,intron_variant,,ENST00000446767,,c.409-884C>A,MODIFIER,,,,1;UNG,downstream_gene_variant,,ENST00000540158,,,MODIFIER,,,,1","A","ENSG00000076248","ENST00000242576","Transcript","missense_variant","missense_variant","572/2048","489/942","163/313","H/Q","caC/caA","rs376918741;COSV54357633",null,1,"UNG","HGNC","HGNC:12572","protein_coding","YES","CCDS9124.1","ENSP00000242576","P13051.214","E5KTA5.86","UPI000002E951","P13051-1","NM_080911.3","NM_080911.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-04-07",null,"PDB-ENSP_mappings:1akz.A;PDB-ENSP_mappings:1emh.A;PDB-ENSP_mappings:1emj.A;PDB-ENSP_mappings:1q3f.A;PDB-ENSP_mappings:1ssp.E;PDB-ENSP_mappings:1ugh.E;PDB-ENSP_mappings:1yuo.A;PDB-ENSP_mappings:2hxm.A;PDB-ENSP_mappings:2oxm.A;PDB-ENSP_mappings:2oyt.A;PDB-ENSP_mappings:2ssp.E;PDB-ENSP_mappings:3fcf.A;PDB-ENSP_mappings:3fci.A;PDB-ENSP_mappings:3fck.B;PDB-ENSP_mappings:3fcl.A;PDB-ENSP_mappings:3fcl.B;PDB-ENSP_mappings:3tkb.A;PDB-ENSP_mappings:4skn.E;PDB-ENSP_mappings:5ayr.A;PDB-ENSP_mappings:5ayr.C;PDB-ENSP_mappings:5jk7.D;PDB-ENSP_mappings:5jk7.G;HAMAP:MF_00148;CDD:cd10027;PANTHER:PTHR11264;Pfam:PF03167;TIGRFAM:TIGR00628;Gene3D:3.40.470.10;SMART:SM00986;SMART:SM00987;Superfamily:SSF52141",{"$nulls":8},"2.783e-05",0,0,0,0,0,0,0,2.286E-4,2.286E-4,"gnomAD_SAS","6.759500138286967e-06",0,0,0,0,0,0,0,0,0,2.08247001864947E-4,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GCTCACGGGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038451;COSM4038452","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IFT81",28981,"BI","GRCh38","chr12",110162969,110162969,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1092G>T","p.Glu364Asp","p.E364D","ENST00000242591","2024-11-19",116,108,7,106,null,null,"IFT81,missense_variant,p.E364D,ENST00000242591,NM_014055.4&NM_001347948.2,c.1092G>T,MODERATE,YES,tolerated(0.21),benign(0.015),1;IFT81,missense_variant,p.E364D,ENST00000361948,NM_031473.4&NM_001347946.2,c.1092G>T,MODERATE,,tolerated(0.22),benign(0.437),1;IFT81,missense_variant,p.E364D,ENST00000552912,NM_001143779.2&NM_001347947.2,c.1092G>T,MODERATE,,tolerated(0.21),benign(0.015),1;IFT81,missense_variant,p.E334D,ENST00000546374,,c.1002G>T,MODERATE,,tolerated(0.32),benign(0.344),1;IFT81,non_coding_transcript_exon_variant,,ENST00000549009,,n.487G>T,MODIFIER,,,,1;IFT81,missense_variant,p.E334D,ENST00000550156,,c.1002G>T,MODERATE,,tolerated(0.28),benign(0.026),1;IFT81,3_prime_UTR_variant,,ENST00000551273,,c.*139G>T,MODIFIER,,,,1","T","ENSG00000122970","ENST00000242591","Transcript","missense_variant","missense_variant","1618/3124","1092/2031","364/676","E/D","gaG/gaT","COSV54363550",null,1,"IFT81","HGNC","HGNC:14313","protein_coding","YES","CCDS41831.1","ENSP00000242591","Q8WYA0.150","A0A024RBJ1.49","UPI000000D78F",null,"NM_014055.4;NM_001347948.2","NM_014055.4","P1",null,"tolerated(0.21)","benign(0.015)","2024-11-19",null,"Low_complexity_(Seg):seg;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR15614",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAGGAGGCCAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4038626;COSM4038627","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SRRM4",84530,"BI","GRCh38","chr12",119154349,119154349,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1498T>A","p.Ser500Thr","p.S500T","ENST00000267260","2024-12-13",32,28,4,30,null,null,"SRRM4,missense_variant,p.S500T,ENST00000267260,NM_194286.4,c.1498T>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.994),1;SRRM4,downstream_gene_variant,,ENST00000641899,,,MODIFIER,,,,1","A","ENSG00000139767","ENST00000267260","Transcript","missense_variant","missense_variant","1840/8431","1498/1836","500/611","S/T","Tcc/Acc","COSV57418759",null,1,"SRRM4","HGNC","HGNC:29389","protein_coding","YES","CCDS44994.1","ENSP00000267260","A7MD48.91","V5T9A0.45","UPI00001FBC3F",null,"NM_194286.4","NM_194286.4","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.994)","2024-12-13",null,"Pfam:PF15230;PANTHER:PTHR34755;PANTHER:PTHR34755:SF1;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAGACTCCCCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4039257;COSM4039258;COSM4039259","N","Unknown",{"$nulls":3},"muse;varscan2"]
["IL31",386653,"BI","GRCh38","chr12",122172686,122172686,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.221G>T","p.Ser74Ile","p.S74I","ENST00000377035","2024-03-03",45,29,16,30,null,null,"IL31,missense_variant,p.S74I,ENST00000377035,NM_001014336.2,c.221G>T,MODERATE,YES,tolerated(0.2),benign(0),-1;LRRC43,intron_variant,,ENST00000537729,,c.-406+4904C>A,MODIFIER,,,,1","A","ENSG00000204671","ENST00000377035","Transcript","missense_variant","missense_variant","270/927","221/495","74/164","S/I","aGc/aTc","COSV65476283;COSV65476410",null,-1,"IL31","HGNC","HGNC:19372","protein_coding","YES","CCDS31919.1","ENSP00000366234","Q6EBC2.96",null,"UPI00003BF6FE",null,"NM_001014336.2","NM_001014336.2","P1",null,"tolerated(0.2)","benign(0)","2024-03-03",null,"PANTHER:PTHR38652;Pfam:PF15209",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"CAGGGCTGAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4039538","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZCCHC8",55596,"BI","GRCh38","chr12",122500737,122500737,"+","Missense_Mutation","SNP","T","T","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.104A>G","p.Asp35Gly","p.D35G","ENST00000633063","2024-01-14",8,6,2,12,null,null,"ZCCHC8,missense_variant,p.D35G,ENST00000672018,,c.104A>G,MODERATE,YES,tolerated(0.14),benign(0.003),-1;ZCCHC8,missense_variant,p.D35G,ENST00000633063,NM_001350935.2&NM_017612.5&NM_001350936.2,c.104A>G,MODERATE,,tolerated(0.14),benign(0.003),-1;RSRC2,downstream_gene_variant,,ENST00000331738,NM_023012.6,,MODIFIER,YES,,,-1;ZCCHC8,upstream_gene_variant,,ENST00000536306,,,MODIFIER,,,,-1;ZCCHC8,upstream_gene_variant,,ENST00000536663,,,MODIFIER,,,,-1;ZCCHC8,upstream_gene_variant,,ENST00000540586,,,MODIFIER,,,,-1;ZCCHC8,upstream_gene_variant,,ENST00000543897,NM_001350938.2&NM_001350937.2,,MODIFIER,,,,-1;RSRC2,downstream_gene_variant,,ENST00000392442,,,MODIFIER,,,,-1;RSRC2,downstream_gene_variant,,ENST00000525332,,,MODIFIER,,,,-1;RSRC2,downstream_gene_variant,,ENST00000433877,,,MODIFIER,,,,-1;RSRC2,downstream_gene_variant,,ENST00000527173,,,MODIFIER,,,,-1;RSRC2,downstream_gene_variant,,ENST00000532695,,,MODIFIER,,,,-1;AC127002.2,upstream_gene_variant,,ENST00000619123,,,MODIFIER,YES,,,1","C","ENSG00000033030","ENST00000633063","Transcript","missense_variant","missense_variant","196/4113","104/2124","35/707","D/G","gAc/gGc",null,null,-1,"ZCCHC8","HGNC","HGNC:25265","protein_coding",null,null,"ENSP00000488055","Q6NZY4.159",null,"UPI00001E0582","Q6NZY4-1","NM_001350935.2;NM_017612.5;NM_001350936.2","NM_017612.5","P1",null,"tolerated(0.14)","benign(0.003)","2024-01-14",null,"PANTHER:PTHR13316;PANTHER:PTHR13316:SF0;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"MODERATE",null,"SNV",1,null,null,1,"CGCCGTCGTCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["KNTC1",9735,"BI","GRCh38","chr12",122603073,122603073,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4938del","p.Lys1646AsnfsTer2","p.K1646Nfs*2","ENST00000333479","48/64",36,22,14,26,null,null,"KNTC1,frameshift_variant,p.K1646Nfs*2,ENST00000333479,NM_014708.6,c.4938del,HIGH,YES,,,1;KNTC1,5_prime_UTR_variant,,ENST00000436959,,c.-1395del,MODIFIER,,,,1;KNTC1,intron_variant,,ENST00000450485,,c.2272-6304del,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000423927,,,MODIFIER,,,,1;KNTC1,upstream_gene_variant,,ENST00000546125,,,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000535186,,,MODIFIER,,,,1;KNTC1,downstream_gene_variant,,ENST00000545065,,,MODIFIER,,,,1;KNTC1,non_coding_transcript_exon_variant,,ENST00000377192,,n.1071del,MODIFIER,,,,1;KNTC1,non_coding_transcript_exon_variant,,ENST00000541466,,n.258del,MODIFIER,,,,1","-","ENSG00000184445","ENST00000333479","Transcript","frameshift_variant","frameshift_variant","5107/6974","4931/6630","1644/2209","E/X","gAa/ga",null,null,1,"KNTC1","HGNC","HGNC:17255","protein_coding","YES","CCDS45002.1","ENSP00000328236","P50748.163",null,"UPI0000047FD6","P50748-1","NM_014708.6","NM_014708.6","P1",{"$nulls":3},"48/64",null,"PANTHER:PTHR15688;Pfam:PF10493",{"$nulls":41},"HIGH",1,"deletion",1,7,null,null,"TTTTCGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2225091;COSM6039628","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["HCAR1",27198,"BI","GRCh38","chr12",122730317,122730317,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.23G>A","p.Arg8His","p.R8H","ENST00000432564","2024-01-01",44,39,5,30,null,null,"HCAR1,missense_variant,p.R8H,ENST00000432564,NM_032554.4,c.23G>A,MODERATE,YES,tolerated(0.39),benign(0),-1","T","ENSG00000196917","ENST00000432564","Transcript","missense_variant","missense_variant","528/4769","23/1041","8/346","R/H","cGc/cAc","COSV63675089",null,-1,"HCAR1","HGNC","HGNC:4532","protein_coding","YES","CCDS9236.1","ENSP00000389255","Q9BXC0.154","A0A4Y1JWP1.6","UPI000003BC7A",null,"NM_032554.4","NM_032554.4","P1",null,"tolerated(0.39)","benign(0)","2024-01-01",null,"PANTHER:PTHR46048:SF3;PANTHER:PTHR46048;Gene3D:1.20.1070.10",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CGATGCGGCAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4039661","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DHX37",57647,"BI","GRCh38","chr12",124966803,124966803,"+","Missense_Mutation","SNP","G","G","A","rs765933453",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1580C>T","p.Ala527Val","p.A527V","ENST00000308736","2024-12-27",135,94,41,122,null,null,"DHX37,missense_variant,p.A527V,ENST00000308736,NM_032656.4,c.1580C>T,MODERATE,YES,tolerated(0.28),benign(0.024),-1;DHX37,missense_variant,p.A351V,ENST00000544745,,c.1052C>T,MODERATE,,tolerated(0.29),benign(0.009),-1;DHX37,non_coding_transcript_exon_variant,,ENST00000543962,,n.203C>T,MODIFIER,,,,-1","A","ENSG00000150990","ENST00000308736","Transcript","missense_variant","missense_variant","1689/4559","1580/3474","527/1157","A/V","gCg/gTg","rs765933453;COSV58135659",null,-1,"DHX37","HGNC","HGNC:17210","protein_coding","YES","CCDS9261.1","ENSP00000311135","Q8IY37.157",null,"UPI00000742DC",null,"NM_032656.4","NM_032656.4","P1",null,"tolerated(0.28)","benign(0.024)","2024-12-27",null,"Low_complexity_(Seg):seg;PROSITE_profiles:PS51194;CDD:cd18791;PANTHER:PTHR18934;PANTHER:PTHR18934:SF99;Superfamily:SSF52540",{"$nulls":8},"1.594e-05",0,0,0,"5.437e-05",0,"2.648e-05",0,0,"5.437e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCCGCGCCTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2227358","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AACS",65985,"BI","GRCh38","chr12",125118645,125118645,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1001G>A","p.Gly334Asp","p.G334D","ENST00000316519","2024-10-18",41,31,10,52,null,null,"AACS,missense_variant,p.G334D,ENST00000316519,NM_023928.5&NM_001319839.2&NM_001319840.2,c.1001G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;AACS,non_coding_transcript_exon_variant,,ENST00000316543,,n.878G>A,MODIFIER,,,,1;AACS,non_coding_transcript_exon_variant,,ENST00000441247,,n.2216G>A,MODIFIER,,,,1;AACS,non_coding_transcript_exon_variant,,ENST00000538851,,n.1079G>A,MODIFIER,,,,1;AACS,intron_variant,,ENST00000539251,,n.137+4088G>A,MODIFIER,,,,1;AACS,upstream_gene_variant,,ENST00000545511,,,MODIFIER,,,,1","A","ENSG00000081760","ENST00000316519","Transcript","missense_variant","missense_variant","1151/3256","1001/2019","334/672","G/D","gGc/gAc","COSV55537779",null,1,"AACS","HGNC","HGNC:21298","protein_coding","YES","CCDS9263.1","ENSP00000324842","Q86V21.153","A0A024RBV2.34","UPI0000049787","Q86V21-1","NM_023928.5;NM_001319839.2;NM_001319840.2","NM_023928.5","P1",null,"deleterious(0)","probably_damaging(1)","2024-10-18",null,"CDD:cd05943;PANTHER:PTHR42921:SF1;PANTHER:PTHR42921;Gene3D:3.40.50.12780;Pfam:PF00501;TIGRFAM:TIGR01217;Superfamily:SSF56801",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGTCGGCTGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4039992","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TMEM132D",121256,"BI","GRCh38","chr12",129700160,129700160,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.618del","p.Thr207ArgfsTer75","p.T207Rfs*75","ENST00000422113","2024-02-09",51,39,12,41,null,null,"TMEM132D,frameshift_variant,p.T207Rfs*75,ENST00000422113,NM_133448.3,c.618del,HIGH,YES,,,-1;AC117373.1,upstream_gene_variant,,ENST00000544036,,,MODIFIER,YES,,,-1;AC117373.2,downstream_gene_variant,,ENST00000657209,,,MODIFIER,YES,,,1","-","ENSG00000151952","ENST00000422113","Transcript","frameshift_variant","frameshift_variant","1304/6135","618/3300","206/1099","P/X","ccC/cc",null,null,-1,"TMEM132D","HGNC","HGNC:29411","protein_coding","YES","CCDS9266.1","ENSP00000408581","Q14C87.100",null,"UPI000023759C","Q14C87-1","NM_133448.3","NM_133448.3","P1",{"$nulls":3},"2024-02-09",null,"PANTHER:PTHR13388:SF2;PANTHER:PTHR13388",{"$nulls":19},"6.771399966964964e-06",0,0,0,0,0,0,0,"1.544539918540977e-05",0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"CACCGTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1360059","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RIMBP2",23504,"BI","GRCh38","chr12",130445164,130445164,"+","Nonsense_Mutation","SNP","A","A","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.636T>A","p.Tyr212Ter","p.Y212*","ENST00000261655","2024-07-19",131,97,34,159,null,null,"RIMBP2,stop_gained,p.Y212*,ENST00000261655,NM_001351230.2&NM_001351231.2&NM_015347.5,c.636T>A,HIGH,,,,-1;RIMBP2,stop_gained,p.Y229*,ENST00000643940,NM_001351227.2&NM_001351229.2&NM_001351226.2&NM_001351228.2,c.687T>A,HIGH,YES,,,-1;RIMBP2,stop_gained,p.Y236*,ENST00000644209,NM_001351232.2,c.708T>A,HIGH,,,,-1;RIMBP2,3_prime_UTR_variant,,ENST00000535703,NM_001351233.1,c.*1036T>A,MODIFIER,,,,-1;RIMBP2,3_prime_UTR_variant,,ENST00000647475,,c.*654T>A,MODIFIER,,,,-1","T","ENSG00000060709","ENST00000261655","Transcript","stop_gained","stop_gained","800/6321","636/3159","212/1052","Y/*","taT/taA","COSV55475762",null,-1,"RIMBP2","HGNC","HGNC:30339","protein_coding",null,"CCDS31925.1","ENSP00000261655","O15034.162",null,"UPI00001C1F42","O15034-1","NM_001351230.2;NM_001351231.2;NM_015347.5",null,"A2",{"$nulls":3},"2024-07-19",null,"PDB-ENSP_mappings:1wie.A;PROSITE_profiles:PS50002;CDD:cd12014;PANTHER:PTHR14234:SF18;PANTHER:PTHR14234;Gene3D:2.30.30.40;Pfam:PF14604;SMART:SM00326;Superfamily:SSF50044",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,null,"CCTTCATAGAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4040141;COSM4040142","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MMP17",4326,"BI","GRCh38","chr12",131849987,131849987,"+","Missense_Mutation","SNP","G","G","A","rs779153151",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1390G>A","p.Gly464Ser","p.G464S","ENST00000360564","2024-09-10",81,61,20,84,null,null,"MMP17,missense_variant,p.G464S,ENST00000360564,NM_016155.7,c.1390G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.982),1;MMP17,missense_variant,p.G380S,ENST00000535291,,c.1138G>A,MODERATE,,deleterious(0),probably_damaging(0.982),1;MMP17,missense_variant,p.G4S,ENST00000535004,,c.10G>A,MODERATE,,deleterious(0),probably_damaging(0.982),1;MMP17,missense_variant,p.G94S,ENST00000542648,,c.280G>A,MODERATE,,deleterious(0.03),probably_damaging(0.982),1;MMP17,downstream_gene_variant,,ENST00000534865,,,MODIFIER,,,,1;MMP17,downstream_gene_variant,,ENST00000535182,,,MODIFIER,,,,1;MMP17,3_prime_UTR_variant,,ENST00000537848,,c.*23G>A,MODIFIER,,,,1;MMP17,non_coding_transcript_exon_variant,,ENST00000535271,,n.153G>A,MODIFIER,,,,1","A","ENSG00000198598","ENST00000360564","Transcript","missense_variant","missense_variant","1492/2411","1390/1812","464/603","G/S","Ggc/Agc","rs779153151;COSV62179778",null,1,"MMP17","HGNC","HGNC:7163","protein_coding","YES","CCDS31927.1","ENSP00000353767","Q9ULZ9.190",null,"UPI00001AF305","Q9ULZ9-1","NM_016155.7","NM_016155.7","P1",null,"deleterious(0.02)","probably_damaging(0.982)","2024-09-10",null,"PROSITE_profiles:PS51642;CDD:cd00094;PANTHER:PTHR10201;PANTHER:PTHR10201:SF21;PIRSF:PIRSF001191;Pfam:PF00045;Gene3D:2.110.10.10;SMART:SM00120;Superfamily:SSF50923",{"$nulls":8},"2.394e-05",0,0,0,0,0,"3.538e-05",0.0001635,"3.266e-05",0.0001635,"gnomAD_OTH",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"ACCCCGGCTAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4040198","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NOC4L",79050,"BI","GRCh38","chr12",132151515,132151515,"+","Missense_Mutation","SNP","G","G","A","rs752337906",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1105G>A","p.Ala369Thr","p.A369T","ENST00000330579","2024-12-15",27,18,9,35,null,null,"NOC4L,missense_variant,p.A369T,ENST00000330579,NM_024078.3,c.1105G>A,MODERATE,YES,tolerated(0.25),benign(0.06),1;NOC4L,downstream_gene_variant,,ENST00000541954,,,MODIFIER,,,,1;NOC4L,non_coding_transcript_exon_variant,,ENST00000535343,,n.567G>A,MODIFIER,,,,1;NOC4L,non_coding_transcript_exon_variant,,ENST00000538784,,n.344G>A,MODIFIER,,,,1","A","ENSG00000184967","ENST00000330579","Transcript","missense_variant","missense_variant","1137/1650","1105/1551","369/516","A/T","Gcc/Acc","rs752337906;COSV57958657",null,1,"NOC4L","HGNC","HGNC:28461","protein_coding","YES","CCDS9277.1","ENSP00000328854","Q9BVI4.156",null,"UPI00000723C4",null,"NM_024078.3","NM_024078.3","P1",null,"tolerated(0.25)","benign(0.06)","2024-12-15",null,"Low_complexity_(Seg):seg;PANTHER:PTHR12455;Pfam:PF03914;Superfamily:SSF48371",{"$nulls":8},1.054E-4,0,0.0005565,0,0.0002226,0,"1.871e-05",0,0,0.0005565,"gnomAD_AMR","9.46572981774807e-05","7.296429976122454e-05",0,0.000331126007949933,0,0.000405350991059094,0,0,"4.6299199311761186e-05",0,2.08333003683947E-4,0.000405350991059094,"eas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCTTCGCCAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4040322","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLE",5426,"BI","GRCh38","chr12",132664392,132664392,"+","Missense_Mutation","SNP","G","G","A","rs1428997822",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2539C>T","p.Arg847Trp","p.R847W","ENST00000320574","22/49",100,94,6,111,null,null,"POLE,missense_variant,p.R847W,ENST00000320574,NM_006231.4,c.2539C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;POLE,missense_variant,p.R820W,ENST00000535270,,c.2458C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;POLE,missense_variant,p.R54W,ENST00000672002,,c.160C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.994),-1;POLE,3_prime_UTR_variant,,ENST00000672742,,c.*2041C>T,MODIFIER,,,,-1;POLE,3_prime_UTR_variant,,ENST00000537064,,c.*1586C>T,MODIFIER,,,,-1;POLE,upstream_gene_variant,,ENST00000536445,,,MODIFIER,,,,-1","A","ENSG00000177084","ENST00000320574","Transcript","missense_variant","missense_variant","2566/7823","2539/6861","847/2286","R/W","Cgg/Tgg","rs1428997822;COSV57678361",null,-1,"POLE","HGNC","HGNC:9177","protein_coding","YES","CCDS9278.1","ENSP00000322570","Q07864.201",null,"UPI00001FBF97",null,"NM_006231.4","NM_006231.4","P1",null,"deleterious(0)","probably_damaging(1)","22/49",null,"CDD:cd05535;PANTHER:PTHR10670;PANTHER:PTHR10670:SF0;Pfam:PF00136;SMART:SM00486;Superfamily:SSF56672",{"$nulls":19},"2.0293000488891266e-05",0,0,0,0,0,0,0,"4.630630064639263e-05",0,0,"4.630630064639263e-05","nfe","uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CTCCCGTGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM6036830;COSM6036831","N","Unknown",{"$nulls":3},"muse;mutect2"]
["GOLGA3",2802,"BI","GRCh38","chr12",132795877,132795877,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2444A>G","p.Glu815Gly","p.E815G","ENST00000204726","2024-11-24",204,141,63,147,null,null,"GOLGA3,missense_variant,p.E815G,ENST00000204726,NM_005895.4,c.2444A>G,MODERATE,YES,deleterious(0),benign(0.397),-1;GOLGA3,missense_variant,p.E815G,ENST00000450791,,c.2444A>G,MODERATE,,deleterious(0),benign(0.397),-1;GOLGA3,missense_variant,p.E815G,ENST00000456883,,c.2444A>G,MODERATE,,deleterious(0),benign(0.299),-1;GOLGA3,missense_variant,p.E815G,ENST00000545875,NM_001172557.2,c.2444A>G,MODERATE,,deleterious(0.01),benign(0.299),-1","C","ENSG00000090615","ENST00000204726","Transcript","missense_variant","missense_variant","3170/9414","2444/4497","815/1498","E/G","gAa/gGa","COSV52634370",null,-1,"GOLGA3","HGNC","HGNC:4426","protein_coding","YES","CCDS9281.1","ENSP00000204726","Q08378.183",null,"UPI0000190979","Q08378-1","NM_005895.4",null,"P3",null,"deleterious(0)","benign(0.397)","2024-11-24",null,"Low_complexity_(Seg):seg;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18902;PANTHER:PTHR18902:SF26",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"ATTCTTCTCTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4040443;COSM4040444;COSM4040445","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["XPO4",64328,"BI","GRCh38","chr13",20796888,20796888,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2492del","p.Leu831Ter","p.L831*","ENST00000255305","17/23",56,45,11,51,null,null,"XPO4,frameshift_variant,p.L831*,ENST00000255305,NM_001372061.1&NM_022459.4,c.2492del,HIGH,YES,,,-1;XPO4,frameshift_variant,p.L831*,ENST00000400602,,c.2492del,HIGH,,,,-1","-","ENSG00000132953","ENST00000255305","Transcript","frameshift_variant","frameshift_variant","2564/9921","2492/3456","831/1151","L/X","tTa/ta",null,null,-1,"XPO4","HGNC","HGNC:17796","protein_coding","YES","CCDS41872.1","ENSP00000255305","Q9C0E2.158",null,"UPI0000139018",null,"NM_001372061.1;NM_022459.4",null,"P3",{"$nulls":3},"17/23",null,"Gene3D:1.25.10.10;PANTHER:PTHR12596;PANTHER:PTHR12596:SF1;Superfamily:SSF48371",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TCCATTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2265532;COSM2265533","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RNF17",56163,"BI","GRCh38","chr13",24870724,24870724,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4432A>G","p.Thr1478Ala","p.T1478A","ENST00000255324","32/36",50,33,16,53,null,null,"RNF17,missense_variant,p.T1478A,ENST00000255324,NM_031277.3&NM_001184993.2,c.4432A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.866),1;RNF17,missense_variant,p.T802A,ENST00000418120,,c.2404A>G,MODERATE,,deleterious(0),possibly_damaging(0.773),1;RNF17,missense_variant,p.T488A,ENST00000339524,,c.1462A>G,MODERATE,,deleterious(0),possibly_damaging(0.517),1","G","ENSG00000132972","ENST00000255324","Transcript","missense_variant","missense_variant","4467/5102","4432/4872","1478/1623","T/A","Acg/Gcg","COSV55042593",null,1,"RNF17","HGNC","HGNC:10060","protein_coding","YES","CCDS9308.2","ENSP00000255324","Q9BXT8.159",null,"UPI00001FC8BA","Q9BXT8-3","NM_031277.3;NM_001184993.2","NM_031277.3","P1",null,"deleterious(0)","possibly_damaging(0.866)","32/36",null,"PANTHER:PTHR16442;Pfam:PF00567;Gene3D:2.30.30.140;SMART:SM00333;Superfamily:SSF63748",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"CTCTGACGGAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4046689","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RNF6",6049,"BI","GRCh38","chr13",26214104,26214104,"+","Frame_Shift_Del","DEL","A","A","-","rs1199638878",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1778del","p.Leu593TyrfsTer2","p.L593Yfs*2","ENST00000346166","2024-05-05",132,88,43,154,null,null,"RNF6,frameshift_variant,p.L593Yfs*2,ENST00000381588,NM_183045.1&NM_005977.4,c.1778del,HIGH,YES,,,-1;RNF6,frameshift_variant,p.L593Yfs*2,ENST00000381570,NM_183044.2,c.1778del,HIGH,,,,-1;RNF6,frameshift_variant,p.L593Yfs*2,ENST00000346166,NM_183043.2,c.1778del,HIGH,,,,-1;RNF6,intron_variant,,ENST00000468480,,n.768+1370del,MODIFIER,,,,-1;RNF6,downstream_gene_variant,,ENST00000498039,,,MODIFIER,,,,-1","-","ENSG00000127870","ENST00000346166","Transcript","frameshift_variant","frameshift_variant","1940/3282","1778/2058","593/685","L/X","tTa/ta","rs1199638878;COSV60419447",null,-1,"RNF6","HGNC","HGNC:10069","protein_coding",null,"CCDS9316.1","ENSP00000342121","Q9Y252.159","A0A024RDP2.47","UPI0000000A0A","Q9Y252-1","NM_183043.2",null,"P1",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR45931:SF2;PANTHER:PTHR45931",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",null,"deletion",1,null,"0;1",1,"TTTAGTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1366122","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["B3GLCT",145173,"BI","GRCh38","chr13",31229255,31229255,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.238del","p.Ser80AlafsTer3","p.S80Afs*3","ENST00000343307","2024-04-15",52,40,12,54,null,null,"B3GLCT,frameshift_variant,p.S80Afs*3,ENST00000343307,NM_194318.4,c.238del,HIGH,YES,,,1","-","ENSG00000187676","ENST00000343307","Transcript","frameshift_variant","frameshift_variant","341/4215","231/1497","77/498","L/X","ttA/tt",null,null,1,"B3GLCT","HGNC","HGNC:20207","protein_coding","YES","CCDS9341.1","ENSP00000343002","Q6Y288.132",null,"UPI000036695C",null,"NM_194318.4","NM_194318.4","P1",{"$nulls":3},"2024-04-15",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR10811:SF59;PANTHER:PTHR10811",{"$nulls":41},"HIGH",1,"deletion",1,7,null,1,"GCAGTTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1366326","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["N4BP2L2",10443,"BI","GRCh38","chr13",32443439,32443440,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2384dup","p.Thr796HisfsTer6","p.T796Hfs*6","ENST00000674422","2024-08-08",32,24,8,31,null,null,"N4BP2L2,frameshift_variant,p.T352Hfs*6,ENST00000357505,NM_001278432.1,c.1052dup,HIGH,,,,-1;N4BP2L2,frameshift_variant,p.T796Hfs*6,ENST00000674422,,c.2384dup,HIGH,YES,,,-1;N4BP2L2,frameshift_variant,p.T367Hfs*6,ENST00000399396,NM_033111.4,c.1097dup,HIGH,,,,-1;N4BP2L2,frameshift_variant,p.T237Hfs*6,ENST00000674456,,c.707dup,HIGH,,,,-1;N4BP2L2,frameshift_variant,p.T352Hfs*6,ENST00000504114,,c.1052dup,HIGH,,,,-1;N4BP2L2,frameshift_variant,p.T367Hfs*6,ENST00000674452,,c.1097dup,HIGH,,,,-1;N4BP2L2,intron_variant,,ENST00000446957,NM_001320836.2,c.1698-892dup,MODIFIER,,,,-1;N4BP2L2,downstream_gene_variant,,ENST00000505213,,,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000380121,,n.1068dup,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000503296,,n.946dup,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000674161,,n.805dup,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000674279,,n.788dup,MODIFIER,,,,-1;N4BP2L2,downstream_gene_variant,,ENST00000473025,,,MODIFIER,,,,-1;N4BP2L2,3_prime_UTR_variant,,ENST00000674272,,c.*961dup,MODIFIER,,,,-1;N4BP2L2,3_prime_UTR_variant,,ENST00000674384,,c.*954dup,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000509076,,n.1735dup,MODIFIER,,,,-1;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000674346,,n.943dup,MODIFIER,,,,-1","A","ENSG00000244754","ENST00000674422","Transcript","frameshift_variant","frameshift_variant","2499-2500/2873","2384-2385/2758","795/919","F/FX","ttc/ttTc",null,null,-1,"N4BP2L2","HGNC","HGNC:26916","protein_coding","YES",null,"ENSP00000501390",{"$nulls":7},"cds_end_NF",null,null,"2024-08-08",null,"PANTHER:PTHR13308:SF23;PANTHER:PTHR13308",{"$nulls":41},"HIGH",1,"insertion",{"$nulls":4},"GTTGTGAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ALG5",29880,"BI","GRCh38","chr13",36993639,36993639,"+","Missense_Mutation","SNP","C","C","T","rs767947559",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.319G>A","p.Val107Ile","p.V107I","ENST00000239891","2024-04-10",134,94,40,132,null,null,"ALG5,missense_variant,p.V107I,ENST00000239891,NM_013338.5,c.319G>A,MODERATE,YES,tolerated(0.4),benign(0.074),-1;ALG5,intron_variant,,ENST00000443765,NM_001142364.1,c.285+1350G>A,MODIFIER,,,,-1;ALG5,non_coding_transcript_exon_variant,,ENST00000496689,,n.536G>A,MODIFIER,,,,-1","T","ENSG00000120697","ENST00000239891","Transcript","missense_variant","missense_variant","359/1219","319/975","107/324","V/I","Gta/Ata","rs767947559;COSV53504724",null,-1,"ALG5","HGNC","HGNC:20266","protein_coding","YES","CCDS9361.1","ENSP00000239891","Q9Y673.158",null,"UPI000012583A","Q9Y673-1","NM_013338.5","NM_013338.5","P1",null,"tolerated(0.4)","benign(0.074)","2024-04-10",null,"CDD:cd04188;PANTHER:PTHR10859:SF91;PANTHER:PTHR10859;Pfam:PF00535;Gene3D:3.90.550.10;Superfamily:SSF53448",{"$nulls":8},"3.981e-06",0,0,0,0,0,"8.803e-06",0,0,"8.803e-06","gnomAD_NFE","6.759310053894296e-06",0,0,0,0,0,0,0,"1.5427800462930463e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AACTACTATCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4047416","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZC3H13",23091,"BI","GRCh38","chr13",45969834,45969834,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2710C>T","p.Arg904Cys","p.R904C","ENST00000242848","14/19",338,304,33,350,null,null,"ZC3H13,missense_variant,p.R904C,ENST00000679008,NM_001382214.1&NM_001382207.1&NM_001076788.2&NM_001382206.1&NM_001382208.1&NM_001330564.2&NM_001382211.1,c.2710C>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.88),-1;ZC3H13,missense_variant,p.R904C,ENST00000242848,NM_001330565.2&NM_001382212.1&NM_001382210.1&NM_001330567.2&NM_001382213.1&NM_001382209.1&NM_001330566.2,c.2710C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.763),-1;ZC3H13,missense_variant,p.R904C,ENST00000282007,NM_015070.6,c.2710C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.88),-1","A","ENSG00000123200","ENST00000242848","Transcript","missense_variant","missense_variant","3059/8018","2710/5007","904/1668","R/C","Cgc/Tgc","COSV54456398",null,-1,"ZC3H13","HGNC","HGNC:20368","protein_coding",null,"CCDS81766.1","ENSP00000242848","Q5T200.138",null,"UPI000046F8EB","Q5T200-1","NM_001330565.2;NM_001382212.1;NM_001382210.1;NM_001330567.2;NM_001382213.1;NM_001382209.1;NM_001330566.2",null,"P3",null,"deleterious_low_confidence(0)","possibly_damaging(0.763)","14/19",null,"PANTHER:PTHR13585;PANTHER:PTHR13585:SF19;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GTAGCGCCTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4047825;COSM4047826","N","Unknown",{"$nulls":3},"muse;mutect2"]
["WDFY2",115825,"BI","GRCh38","chr13",51758214,51758214,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1087C>T","p.His363Tyr","p.H363Y","ENST00000298125","2024-11-12",56,51,5,77,null,null,"WDFY2,missense_variant,p.H363Y,ENST00000298125,NM_052950.4,c.1087C>T,MODERATE,YES,tolerated(0.1),probably_damaging(0.988),1","T","ENSG00000139668","ENST00000298125","Transcript","missense_variant","missense_variant","1313/9369","1087/1203","363/400","H/Y","Cat/Tat","COSV53290539",null,1,"WDFY2","HGNC","HGNC:20482","protein_coding","YES","CCDS9429.1","ENSP00000298125","Q96P53.137",null,"UPI00000466AC",null,"NM_052950.4","NM_052950.4","P1",null,"tolerated(0.1)","probably_damaging(0.988)","2024-11-12",null,"Pfam:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;PANTHER:PTHR46189;PANTHER:PTHR46189:SF3;SMART:SM00320;Superfamily:SSF57903",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCTTCCATGAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4048019","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SLITRK1",114798,"BI","GRCh38","chr13",83881195,83881196,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.312dup","p.Leu105AlafsTer34","p.L105Afs*34","ENST00000377084","2024-01-01",102,72,30,95,null,null,"SLITRK1,frameshift_variant,p.L105Afs*34,ENST00000377084,NM_052910.2,c.312dup,HIGH,YES,,,-1;SLITRK1,frameshift_variant,p.L105Afs*34,ENST00000674365,NM_001281503.2,c.312dup,HIGH,,,,-1;AL355481.1,intron_variant,,ENST00000649183,,n.201+2389dup,MODIFIER,,,,1;AL355481.1,intron_variant,,ENST00000667130,,n.204+2389dup,MODIFIER,YES,,,1;AL355481.1,upstream_gene_variant,,ENST00000654693,,,MODIFIER,,,,1","C","ENSG00000178235","ENST00000377084","Transcript","frameshift_variant","frameshift_variant","1198-1199/5189","312-313/2091","104-105/696","-/X","-/G",null,null,-1,"SLITRK1","HGNC","HGNC:20297","protein_coding","YES","CCDS9464.1","ENSP00000366288","Q96PX8.165",null,"UPI0000035971",null,"NM_052910.2",null,"P1",{"$nulls":3},"2024-01-01",null,"Gene3D:3.80.10.10;PDB-ENSP_mappings:4rca.B;PANTHER:PTHR45773;PANTHER:PTHR45773:SF7;Superfamily:SSF52058",{"$nulls":41},"HIGH",1,"insertion",{"$nulls":3},1,"CTGCAGCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SLITRK6",84189,"BI","GRCh38","chr13",85794454,85794454,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2055del","p.Met686TrpfsTer50","p.M686Wfs*50","ENST00000647374","2024-02-02",281,205,76,290,null,null,"SLITRK6,frameshift_variant,p.M686Wfs*50,ENST00000647374,NM_032229.3,c.2055del,HIGH,YES,,,-1;SLITRK6,frameshift_variant,p.M686Wfs*50,ENST00000643778,,c.2055del,HIGH,,,,-1;SLITRK6,downstream_gene_variant,,ENST00000645642,,,MODIFIER,,,,-1","-","ENSG00000184564","ENST00000647374","Transcript","frameshift_variant","frameshift_variant","2585/4249","2055/2526","685/841","P/X","ccC/cc",null,null,-1,"SLITRK6","HGNC","HGNC:23503","protein_coding","YES","CCDS41903.1","ENSP00000495507","Q9H5Y7.154",null,"UPI000004C9D6",null,"NM_032229.3","NM_032229.3","P1",{"$nulls":3},"2024-02-02",null,"PANTHER:PTHR45773;PANTHER:PTHR45773:SF1",{"$nulls":41},"HIGH",1,"deletion",{"$nulls":3},1,"AACCATGGGGCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["UGGT2",55757,"BI","GRCh38","chr13",95884635,95884635,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3084T>A","p.Asn1028Lys","p.N1028K","ENST00000376747","27/39",65,36,29,78,null,null,"UGGT2,missense_variant,p.N1028K,ENST00000376747,NM_020121.4,c.3084T>A,MODERATE,YES,deleterious(0.03),benign(0.213),-1;UGGT2,non_coding_transcript_exon_variant,,ENST00000491509,,n.359T>A,MODIFIER,,,,-1;UGGT2,non_coding_transcript_exon_variant,,ENST00000463054,,n.394T>A,MODIFIER,,,,-1","T","ENSG00000102595","ENST00000376747","Transcript","missense_variant","missense_variant","3173/4850","3084/4551","1028/1516","N/K","aaT/aaA","COSV65075713",null,-1,"UGGT2","HGNC","HGNC:15664","protein_coding","YES","CCDS9480.1","ENSP00000365938","Q9NYU1.172",null,"UPI00001FC9AA","Q9NYU1-1","NM_020121.4","NM_020121.4","P1",null,"deleterious(0.03)","benign(0.213)","27/39",null,"PANTHER:PTHR11226:SF1;PANTHER:PTHR11226",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACGTCATTAGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4048848","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYH6",4624,"BI","GRCh38","chr14",23386016,23386016,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5075C>T","p.Ala1692Val","p.A1692V","ENST00000405093","34/39",69,52,17,77,null,null,"MYH6,missense_variant,p.A1692V,ENST00000405093,NM_002471.4,c.5075C>T,MODERATE,YES,tolerated(0.1),benign(0.375),-1;MIR208A,downstream_gene_variant,,ENST00000362287,,,MODIFIER,YES,,,-1;MYH6,upstream_gene_variant,,ENST00000651452,,,MODIFIER,,,,-1","A","ENSG00000197616","ENST00000405093","Transcript","missense_variant","missense_variant","5142/5940","5075/5820","1692/1939","A/V","gCc/gTc","COSV62451838",null,-1,"MYH6","HGNC","HGNC:7576","protein_coding","YES","CCDS9600.1","ENSP00000386041","P13533.210",null,"UPI0000160969",null,"NM_002471.4","NM_002471.4","P1",null,"tolerated(0.1)","benign(0.375)","34/39",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF01576;PANTHER:PTHR45615;PANTHER:PTHR45615:SF11",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CCACGGCACGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4050037","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AL136295.1",0,"BI","GRCh38","chr14",24210465,24210465,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.493C>A","p.Leu165Ile","p.L165I","ENST00000530611","2024-05-10",295,284,11,270,null,null,"AL136295.1,missense_variant,p.L165I,ENST00000530611,,c.493C>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.992),-1;CHMP4A,missense_variant,p.L165I,ENST00000347519,NM_014169.5,c.493C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;CHMP4A,missense_variant,p.L60I,ENST00000530996,,c.178C>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;CHMP4A,missense_variant,p.L175I,ENST00000533011,,c.523C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;TSSK4,downstream_gene_variant,,ENST00000287913,NM_174944.4,,MODIFIER,,,,1;MDP1,downstream_gene_variant,,ENST00000288087,NM_001199822.1&NM_138476.4,,MODIFIER,YES,,,-1;TSSK4,downstream_gene_variant,,ENST00000339917,NM_001184739.2,,MODIFIER,YES,,,1;MDP1,downstream_gene_variant,,ENST00000396833,NM_001199821.1,,MODIFIER,,,,-1;TSSK4,downstream_gene_variant,,ENST00000428351,,,MODIFIER,,,,1;NEDD8-MDP1,downstream_gene_variant,,ENST00000534348,NM_001199823.2,,MODIFIER,YES,,,-1;TSSK4,downstream_gene_variant,,ENST00000553766,,,MODIFIER,,,,1;TSSK4,downstream_gene_variant,,ENST00000555092,,,MODIFIER,,,,1;TSSK4,downstream_gene_variant,,ENST00000556621,NM_001308067.2,,MODIFIER,,,,1;CHMP4A,non_coding_transcript_exon_variant,,ENST00000542700,,n.528C>A,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000525696,,,MODIFIER,,,,-1;CHMP4A,downstream_gene_variant,,ENST00000531158,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000532557,,,MODIFIER,,,,-1;NEDD8-MDP1,downstream_gene_variant,,ENST00000604306,,,MODIFIER,,,,-1;CHMP4A,3_prime_UTR_variant,,ENST00000533523,,c.*125C>A,MODIFIER,,,,-1;AL096870.2,non_coding_transcript_exon_variant,,ENST00000565988,,n.1701C>A,MODIFIER,YES,,,-1;CHMP4A,non_coding_transcript_exon_variant,,ENST00000524955,,n.227C>A,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000466422,,,MODIFIER,,,,-1;CHMP4A,downstream_gene_variant,,ENST00000527154,,,MODIFIER,,,,-1;AL096870.2,downstream_gene_variant,,ENST00000528804,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000528849,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000530222,,,MODIFIER,,,,-1;NEDD8-MDP1,downstream_gene_variant,,ENST00000530579,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000531553,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000532742,,,MODIFIER,,,,-1;MDP1,downstream_gene_variant,,ENST00000533536,,,MODIFIER,,,,-1;CHMP4A,downstream_gene_variant,,ENST00000534106,,,MODIFIER,,,,-1;CHMP4A,downstream_gene_variant,,ENST00000552620,,,MODIFIER,,,,-1;TSSK4,downstream_gene_variant,,ENST00000554420,,,MODIFIER,,,,1;NEDD8-MDP1,downstream_gene_variant,,ENST00000605847,,,MODIFIER,,,,-1","T","ENSG00000254692","ENST00000530611","Transcript","missense_variant","missense_variant","527/2740","493/2448","165/815","L/I","Cta/Ata","COSV99841720",null,-1,"AL136295.1","Clone_based_ensembl_gene",null,"protein_coding","YES",null,"ENSP00000433967",null,"E9PSI1.67","UPI0001F77BE7",{"$nulls":3},"P1",null,"deleterious_low_confidence(0)","probably_damaging(0.992)","2024-05-10",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF03357;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CTCTAGCTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["PNN",5411,"BI","GRCh38","chr14",39181142,39181142,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1433C>A","p.Pro478His","p.P478H","ENST00000216832","2024-09-09",59,39,19,58,null,null,"PNN,missense_variant,p.P478H,ENST00000216832,NM_002687.4,c.1433C>A,MODERATE,YES,deleterious_low_confidence(0),benign(0.421),1;PNN,downstream_gene_variant,,ENST00000553331,,,MODIFIER,,,,1;PNN,downstream_gene_variant,,ENST00000556530,,,MODIFIER,,,,1;PNN,intron_variant,,ENST00000557680,,n.470+466C>A,MODIFIER,,,,1;PNN,downstream_gene_variant,,ENST00000554117,,,MODIFIER,,,,1;PNN,downstream_gene_variant,,ENST00000554902,,,MODIFIER,,,,1","A","ENSG00000100941","ENST00000216832","Transcript","missense_variant","missense_variant","1459/3537","1433/2154","478/717","P/H","cCt/cAt","COSV53767026",null,1,"PNN","HGNC","HGNC:9162","protein_coding","YES","CCDS9671.1","ENSP00000216832","Q9H307.161",null,"UPI000013C70D",null,"NM_002687.4","NM_002687.4","P1",null,"deleterious_low_confidence(0)","benign(0.421)","2024-09-09",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCAGCCTCAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4050797","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NIN",51199,"BI","GRCh38","chr14",50758089,50758089,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2941C>T","p.Gln981Ter","p.Q981*","ENST00000382041","18/30",280,182,96,268,null,null,"NIN,stop_gained,p.Q981*,ENST00000530997,NM_020921.4,c.2941C>T,HIGH,YES,,,-1;NIN,stop_gained,p.Q981*,ENST00000476352,,c.2941C>T,HIGH,,,,-1;NIN,stop_gained,p.Q981*,ENST00000453196,NM_182944.2,c.2941C>T,HIGH,,,,-1;NIN,stop_gained,p.Q981*,ENST00000382041,NM_182946.1,c.2941C>T,HIGH,,,,-1;NIN,stop_gained,p.Q472*,ENST00000389869,,c.1414C>T,HIGH,,,,-1;NIN,intron_variant,,ENST00000324330,NM_016350.4,c.2399+1768C>T,MODIFIER,,,,-1;NIN,intron_variant,,ENST00000382043,,c.2399+1768C>T,MODIFIER,,,,-1;NIN,non_coding_transcript_exon_variant,,ENST00000673819,,n.986C>T,MODIFIER,,,,-1;NIN,intron_variant,,ENST00000673657,,c.*1203+1768C>T,MODIFIER,,,,-1;NIN,intron_variant,,ENST00000674030,,c.*666+1768C>T,MODIFIER,,,,-1","A","ENSG00000100503","ENST00000382041","Transcript","stop_gained","stop_gained","3132/6496","2941/6273","981/2090","Q/*","Cag/Tag","COSV55394839",null,-1,"NIN","HGNC","HGNC:14906","protein_coding",null,"CCDS32079.1","ENSP00000371472","Q8N4C6.165",null,"UPI0000DBEF14","Q8N4C6-1","NM_182946.1",null,"A2",{"$nulls":3},"18/30",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18905;PANTHER:PTHR18905:SF11",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,1,"TTCCTGCCTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4051094;COSM4051095;COSM4051096;COSM4051097","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRIM9",114088,"BI","GRCh38","chr14",51094798,51094798,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.142del","p.Gln48ArgfsTer21","p.Q48Rfs*21","ENST00000298355","2024-01-10",38,26,12,40,null,null,"TRIM9,frameshift_variant,p.Q48Rfs*21,ENST00000298355,NM_015163.5,c.142del,HIGH,,,,-1;TRIM9,frameshift_variant,p.Q48Rfs*21,ENST00000360392,NM_052978.4,c.142del,HIGH,,,,-1;TRIM9,frameshift_variant,p.Q48Rfs*21,ENST00000338969,,c.142del,HIGH,YES,,,-1;AL591770.1,downstream_gene_variant,,ENST00000554475,,,MODIFIER,YES,,,1","-","ENSG00000100505","ENST00000298355","Transcript","frameshift_variant","frameshift_variant","1264/5284","142/2133","48/710","Q/X","Cag/ag",null,null,-1,"TRIM9","HGNC","HGNC:16288","protein_coding",null,"CCDS9703.1","ENSP00000298355","Q9C026.188",null,"UPI000006D630","Q9C026-1","NM_015163.5",null,"P1",{"$nulls":3},"2024-01-10",null,"CDD:cd16755;PANTHER:PTHR24099:SF13;PANTHER:PTHR24099;Gene3D:3.30.40.10;SMART:SM00184;Superfamily:SSF57850",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"GGCTCTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["NID2",22795,"BI","GRCh38","chr14",52040660,52040660,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2017T>C","p.Ser673Pro","p.S673P","ENST00000216286","2024-08-22",124,88,35,120,null,null,"NID2,missense_variant,p.S673P,ENST00000216286,NM_007361.4,c.2017T>C,MODERATE,YES,tolerated(0.05),possibly_damaging(0.723),-1;NID2,missense_variant,p.S267P,ENST00000617139,,c.799T>C,MODERATE,,deleterious(0.01),possibly_damaging(0.808),-1;NID2,upstream_gene_variant,,ENST00000556572,,,MODIFIER,,,,-1;NID2,non_coding_transcript_exon_variant,,ENST00000554284,,n.199T>C,MODIFIER,,,,-1","G","ENSG00000087303","ENST00000216286","Transcript","missense_variant","missense_variant","2082/4870","2017/4128","673/1375","S/P","Tcc/Ccc","COSV53497947",null,-1,"NID2","HGNC","HGNC:13389","protein_coding","YES","CCDS9706.1","ENSP00000216286","Q14112.195",null,"UPI000013C6E1","Q14112-1","NM_007361.4","NM_007361.4","P1",null,"tolerated(0.05)","possibly_damaging(0.723)","2024-08-22",null,"Gene3D:2.40.155.10;Pfam:PF07474;PROSITE_profiles:PS50993;PANTHER:PTHR46513;PANTHER:PTHR46513:SF15;SMART:SM00682;Superfamily:SSF54511;Superfamily:SSF57184;CDD:cd00255;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTCGGAGTAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4051248","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARID4A",5926,"BI","GRCh38","chr14",58347733,58347733,"+","Frame_Shift_Del","DEL","A","A","-","rs776520069",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1266del","p.Asp423ThrfsTer2","p.D423Tfs*2","ENST00000355431","15/24",62,43,18,56,null,null,"ARID4A,frameshift_variant,p.D423Tfs*2,ENST00000355431,NM_002892.4,c.1266del,HIGH,YES,,,1;ARID4A,frameshift_variant,p.D423Tfs*2,ENST00000431317,,c.1266del,HIGH,,,,1;ARID4A,frameshift_variant,p.D423Tfs*2,ENST00000348476,NM_023001.2,c.1266del,HIGH,,,,1;ARID4A,frameshift_variant,p.D423Tfs*2,ENST00000395168,NM_023000.2,c.1266del,HIGH,,,,1;ARID4A,frameshift_variant,p.D101Tfs*2,ENST00000417477,,c.300del,HIGH,,,,1;ARID4A,upstream_gene_variant,,ENST00000553355,,,MODIFIER,,,,1","-","ENSG00000032219","ENST00000355431","Transcript","frameshift_variant","frameshift_variant","1462/5864","1259/3774","420/1257","E/X","gAa/ga","rs776520069",null,1,"ARID4A","HGNC","HGNC:9885","protein_coding","YES","CCDS9732.1","ENSP00000347602","P29374.184","A0A024R657.53","UPI000013FD01","P29374-1","NM_002892.4","NM_002892.4","P2",{"$nulls":3},"15/24",null,"Gene3D:1.10.150.60;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR13964;PANTHER:PTHR13964:SF26;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"4e-06",0,0,0,0,0,"8.854e-06",0,0,"8.854e-06","gnomAD_NFE",{"$nulls":22},"HIGH",1,"deletion",1,7,null,null,"AAGAGGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1640115;COSM1640116","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["DACT1",51339,"BI","GRCh38","chr14",58645864,58645864,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1241C>A","p.Ser414Tyr","p.S414Y","ENST00000335867","2024-04-04",89,69,20,102,null,null,"DACT1,missense_variant,p.S377Y,ENST00000395153,NM_001079520.2,c.1130C>A,MODERATE,,deleterious(0),probably_damaging(0.934),1;DACT1,missense_variant,p.S133Y,ENST00000541264,,c.398C>A,MODERATE,,deleterious(0),probably_damaging(0.94),1;DACT1,missense_variant,p.S414Y,ENST00000335867,NM_016651.6,c.1241C>A,MODERATE,YES,deleterious(0),probably_damaging(0.94),1;DACT1,missense_variant,p.S133Y,ENST00000556859,,c.398C>A,MODERATE,,deleterious(0),probably_damaging(0.94),1;DACT1,downstream_gene_variant,,ENST00000421793,,,MODIFIER,,,,1;DACT1,downstream_gene_variant,,ENST00000555845,,,MODIFIER,,,,1;LINC01500,upstream_gene_variant,,ENST00000648996,,,MODIFIER,YES,,,1","A","ENSG00000165617","ENST00000335867","Transcript","missense_variant","missense_variant","1265/2571","1241/2511","414/836","S/Y","tCc/tAc","COSV60021438",null,1,"DACT1","HGNC","HGNC:17748","protein_coding","YES","CCDS9736.1","ENSP00000337439","Q9NYF0.156",null,"UPI000013E4D3","Q9NYF0-1","NM_016651.6",null,"P1",null,"deleterious(0)","probably_damaging(0.94)","2024-04-04",null,"Pfam:PF15268;PANTHER:PTHR15919;PANTHER:PTHR15919:SF12;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ATTCTCCCCAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4051471","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SYNE2",23224,"BI","GRCh38","chr14",64225491,64225491,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.20623A>G","p.Met6875Val","p.M6875V","ENST00000344113","115/115",41,28,13,46,null,null,"SYNE2,missense_variant,p.M6897V,ENST00000358025,,c.20689A>G,MODERATE,YES,deleterious(0),probably_damaging(0.978),1;SYNE2,missense_variant,p.M6897V,ENST00000555002,NM_182914.3,c.20689A>G,MODERATE,,deleterious(0),probably_damaging(0.978),1;SYNE2,missense_variant,p.M6875V,ENST00000344113,NM_015180.5,c.20623A>G,MODERATE,,deleterious(0),probably_damaging(0.99),1;SYNE2,missense_variant,p.H6801R,ENST00000357395,,c.20402A>G,MODERATE,,,unknown(0),1;SYNE2,missense_variant,p.H6795R,ENST00000554584,,c.20384A>G,MODERATE,,,unknown(0),1;SYNE2,missense_variant,p.M546V,ENST00000458046,NM_182913.3&NM_182910.2,c.1636A>G,MODERATE,,deleterious(0),probably_damaging(0.994),1;ESR2,intron_variant,,ENST00000556275,,c.1406+9479T>C,MODIFIER,,,,-1;ESR2,downstream_gene_variant,,ENST00000353772,NM_001040275.1,,MODIFIER,,,,-1;ESR2,downstream_gene_variant,,ENST00000358599,NM_001291723.1,,MODIFIER,,,,-1;ESR2,downstream_gene_variant,,ENST00000553796,NM_001271876.1,,MODIFIER,,,,-1;ESR2,downstream_gene_variant,,ENST00000554572,NM_001291712.2,,MODIFIER,,,,-1;ESR2,downstream_gene_variant,,ENST00000555278,NM_001214902.1,,MODIFIER,,,,-1;SYNE2,non_coding_transcript_exon_variant,,ENST00000555022,,n.2457A>G,MODIFIER,,,,1;SYNE2,3_prime_UTR_variant,,ENST00000555612,,c.*2444A>G,MODIFIER,,,,1;SYNE2,3_prime_UTR_variant,,ENST00000553289,,c.*2498A>G,MODIFIER,,,,1;SYNE2,non_coding_transcript_exon_variant,,ENST00000394768,,n.10156A>G,MODIFIER,,,,1;SYNE2,non_coding_transcript_exon_variant,,ENST00000554805,,n.2542A>G,MODIFIER,,,,1;SYNE2,non_coding_transcript_exon_variant,,ENST00000441438,,n.2145A>G,MODIFIER,,,,1;ESR2,downstream_gene_variant,,ENST00000344288,,,MODIFIER,,,,-1;SYNE2,downstream_gene_variant,,ENST00000554928,,,MODIFIER,,,,1","G","ENSG00000054654","ENST00000344113","Transcript","missense_variant","missense_variant","20835/21777","20623/20658","6875/6885","M/V","Atg/Gtg","COSV59941123",null,1,"SYNE2","HGNC","HGNC:17084","protein_coding",null,"CCDS41963.1","ENSP00000341781","Q8WXH0.188",null,"UPI00001B0452","Q8WXH0-1","NM_015180.5",null,"P4",null,"deleterious(0)","probably_damaging(0.99)","115/115",null,"PDB-ENSP_mappings:4dxs.B;PDB-ENSP_mappings:4fi9.B;Pfam:PF10541;PROSITE_profiles:PS51049;PANTHER:PTHR14514;PANTHER:PTHR14514:SF4;SMART:SM01249",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"ACCCCATGCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2248030;COSM2248031;COSM4051761","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ESR2",2100,"BI","GRCh38","chr14",64268827,64268827,"+","Missense_Mutation","SNP","C","C","T","rs368924653",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.620G>A","p.Arg207Gln","p.R207Q","ENST00000341099","2024-04-09",130,92,38,127,null,null,"ESR2,missense_variant,p.R207Q,ENST00000557772,,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.928),-1;ESR2,missense_variant,p.R207Q,ENST00000554572,NM_001291712.2,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.957),-1;ESR2,missense_variant,p.R207Q,ENST00000556275,,c.620G>A,MODERATE,,deleterious(0),possibly_damaging(0.889),-1;ESR2,missense_variant,p.R207Q,ENST00000353772,NM_001040275.1,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.957),-1;ESR2,missense_variant,p.R207Q,ENST00000341099,NM_001437.2,c.620G>A,MODERATE,YES,deleterious(0),probably_damaging(0.968),-1;ESR2,missense_variant,p.R207Q,ENST00000358599,NM_001291723.1,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.957),-1;ESR2,missense_variant,p.R207Q,ENST00000555278,NM_001214902.1,c.620G>A,MODERATE,,deleterious(0),possibly_damaging(0.897),-1;ESR2,missense_variant,p.R207Q,ENST00000553796,NM_001271876.1,c.620G>A,MODERATE,,deleterious(0),benign(0.329),-1;ESR2,missense_variant,p.R207Q,ENST00000267525,NM_001271877.1,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.95),-1;ESR2,non_coding_transcript_exon_variant,,ENST00000555483,,n.304G>A,MODIFIER,,,,-1;ESR2,non_coding_transcript_exon_variant,,ENST00000554520,,n.448G>A,MODIFIER,,,,-1;ESR2,missense_variant,p.R207Q,ENST00000344288,,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1","T","ENSG00000140009","ENST00000341099","Transcript","missense_variant","missense_variant","1038/2060","620/1593","207/530","R/Q","cGg/cAg","rs368924653",null,-1,"ESR2","HGNC","HGNC:3468","protein_coding","YES","CCDS9762.1","ENSP00000343925","Q92731.227","Q7LCB3.144","UPI0000000964","Q92731-1","NM_001437.2",null,"P1",null,"deleterious(0)","probably_damaging(0.968)","2024-04-09",null,"CDD:cd07171;PIRSF:PIRSF002527;Gene3D:3.30.50.10;Pfam:PF00105;PIRSF:PIRSF500102;SMART:SM00399;Superfamily:SSF57716;PROSITE_profiles:PS51030;PANTHER:PTHR24084:SF1;PANTHER:PTHR24084;Prints:PR00047",{"$nulls":6},0.0004539,0,"9.947e-05",3.076E-4,0.0001446,0,0,0,"5.279e-05",0,0.0002941,0.0004539,"AA","2.703909922274761e-05","4.864999937126413e-05",0,"6.626910180784762e-05",0,0,0,0,0,0,2.08680998184718E-4,"4.864999937126413e-05","afr",{"$nulls":9},"MODERATE",1,"SNV",1,null,null,1,"ACTTCCGAAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1205684;COSM1205685;COSM3968872;COSM3968873","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PNMA1",9240,"BI","GRCh38","chr14",73712808,73712809,"+","Frame_Shift_Del","DEL","TC","TC","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.831_832del","p.Lys278GlyfsTer4","p.K278Gfs*4","ENST00000316836","2024-01-01",81,62,19,82,null,null,"PNMA1,frameshift_variant,p.K278Gfs*4,ENST00000316836,NM_006029.5,c.831_832del,HIGH,YES,,,-1;MIDEAS,downstream_gene_variant,,ENST00000286523,NM_194278.3,,MODIFIER,,,,-1;MIDEAS,downstream_gene_variant,,ENST00000394071,NM_001043318.3,,MODIFIER,,,,-1;MIDEAS,downstream_gene_variant,,ENST00000476562,,,MODIFIER,,,,-1","-","ENSG00000176903","ENST00000316836","Transcript","frameshift_variant","frameshift_variant","1576-1577/2602","831-832/1062","277-278/353","EK/EX","gaGAag/gaag",null,null,-1,"PNMA1","HGNC","HGNC:9158","protein_coding","YES","CCDS9818.1","ENSP00000318914","Q8ND90.139",null,"UPI000003779C",null,"NM_006029.5","NM_006029.5","P1",{"$nulls":3},"2024-01-01",null,"PANTHER:PTHR23095:SF17;PANTHER:PTHR23095;Pfam:PF14893",{"$nulls":41},"HIGH",1,"deletion",{"$nulls":4},"CCCCCTTCTCTAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["BBOF1",80127,"BI","GRCh38","chr14",74022925,74022925,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.70del","p.Thr24GlnfsTer44","p.T24Qfs*44","ENST00000394009","2024-02-12",29,19,10,26,null,null,"BBOF1,frameshift_variant,p.T24Qfs*44,ENST00000394009,NM_025057.3,c.70del,HIGH,YES,,,1;BBOF1,intron_variant,,ENST00000463558,,c.-136+3395del,MODIFIER,,,,1;BBOF1,intron_variant,,ENST00000464394,,c.-136+3395del,MODIFIER,,,,1;ENTPD5,upstream_gene_variant,,ENST00000334696,NM_001382258.1&NM_001382262.1&NM_001321984.2&NM_001382256.1&NM_001321986.3&NM_001382263.1&NM_001249.5&NM_001382257.1&NM_001321985.3&NM_001321987.3&NM_001321988.3,,MODIFIER,YES,,,-1;ENTPD5,upstream_gene_variant,,ENST00000556242,,,MODIFIER,,,,-1;BBOF1,intron_variant,,ENST00000489323,,n.89+3395del,MODIFIER,,,,1;ENTPD5,upstream_gene_variant,,ENST00000554664,,,MODIFIER,,,,-1;ENTPD5,upstream_gene_variant,,ENST00000556108,,,MODIFIER,,,,-1;ENTPD5,upstream_gene_variant,,ENST00000557681,,,MODIFIER,,,,-1","-","ENSG00000119636","ENST00000394009","Transcript","frameshift_variant","frameshift_variant","196/3113","66/1590","22/529","I/X","atA/at",null,null,1,"BBOF1","HGNC","HGNC:19855","protein_coding","YES","CCDS32119.2","ENSP00000377577","Q8ND07.119",null,"UPI0000D4A9D0",null,"NM_025057.3","NM_025057.3","P1",{"$nulls":3},"2024-02-12",null,"PANTHER:PTHR14845;PANTHER:PTHR14845:SF5;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",2,4,null,null,"GTTAATAAAAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CKB",1152,"BI","GRCh38","chr14",103522366,103522366,"+","Missense_Mutation","SNP","C","C","T","rs1448275362",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.128G>A","p.Arg43His","p.R43H","ENST00000348956","2024-02-08",44,36,8,42,null,null,"CKB,missense_variant,p.R43H,ENST00000348956,NM_001823.5&NM_001362531.2,c.128G>A,MODERATE,YES,tolerated(0.1),probably_damaging(0.983),-1;CKB,missense_variant,p.R43H,ENST00000553878,,c.128G>A,MODERATE,,tolerated(0.15),probably_damaging(0.983),-1;CKB,missense_variant,p.R14H,ENST00000557530,,c.41G>A,MODERATE,,tolerated(0.1),probably_damaging(0.983),-1;CKB,upstream_gene_variant,,ENST00000553610,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000555039,,,MODIFIER,,,,-1;CKB,non_coding_transcript_exon_variant,,ENST00000555770,,n.205G>A,MODIFIER,,,,-1;CKB,non_coding_transcript_exon_variant,,ENST00000554705,,n.208G>A,MODIFIER,,,,-1;CKB,non_coding_transcript_exon_variant,,ENST00000554426,,n.177G>A,MODIFIER,,,,-1;CKB,non_coding_transcript_exon_variant,,ENST00000555659,,n.205G>A,MODIFIER,,,,-1;CKB,non_coding_transcript_exon_variant,,ENST00000553994,,n.331G>A,MODIFIER,,,,-1;CKB,intron_variant,,ENST00000553652,,c.56+72G>A,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000553528,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000554282,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000554989,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000555366,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000557287,,,MODIFIER,,,,-1;CKB,upstream_gene_variant,,ENST00000557569,,,MODIFIER,,,,-1;AL133367.1,downstream_gene_variant,,ENST00000568177,,,MODIFIER,YES,,,-1","T","ENSG00000166165","ENST00000348956","Transcript","missense_variant","missense_variant","205/1420","128/1146","43/381","R/H","cGc/cAc","rs1448275362;COSV62379556",null,-1,"CKB","HGNC","HGNC:1991","protein_coding","YES","CCDS9981.1","ENSP00000299198","P12277.209","V9HWH2.57","UPI000012DCBA",null,"NM_001823.5;NM_001362531.2","NM_001823.5","P1",null,"tolerated(0.1)","probably_damaging(0.983)","2024-02-08",null,"PDB-ENSP_mappings:3b6r.A;PDB-ENSP_mappings:3b6r.B;PDB-ENSP_mappings:3drb.A;PDB-ENSP_mappings:3drb.B;PDB-ENSP_mappings:3dre.A;PDB-ENSP_mappings:3dre.B;PDB-ENSP_mappings:6v9h.A;PDB-ENSP_mappings:6v9h.B;PROSITE_profiles:PS51509;CDD:cd00716;PANTHER:PTHR11547;PANTHER:PTHR11547:SF23;Pfam:PF02807;Gene3D:1.10.135.10;Superfamily:SSF48034",{"$nulls":8},"4.046e-06",0,0,0,0,0,"8.969e-06",0,0,"8.969e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TGGCGCGCAGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4049294","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IGHM",3507,"BI","GRCh38","chr14",105854979,105854979,"+","Missense_Mutation","SNP","G","G","A","rs375873260",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.905C>T","p.Thr302Met","p.T302M","ENST00000637539","2024-03-06",51,46,5,47,null,null,"IGHM,missense_variant,p.T302M,ENST00000637539,,c.905C>T,MODERATE,YES,tolerated(0.07),possibly_damaging(0.895),-1;IGHM,missense_variant,p.T302M,ENST00000390559,,c.905C>T,MODERATE,,deleterious(0.05),benign(0.056),-1;MIR4539,downstream_gene_variant,,ENST00000579784,,,MODIFIER,YES,,,-1;MIR4507,downstream_gene_variant,,ENST00000581070,,,MODIFIER,YES,,,-1;MIR4538,downstream_gene_variant,,ENST00000581377,,,MODIFIER,YES,,,-1;MIR4537,downstream_gene_variant,,ENST00000581717,,,MODIFIER,YES,,,-1","A","ENSG00000211899","ENST00000637539","Transcript","missense_variant","missense_variant","905/1686","905/1425","302/474","T/M","aCg/aTg","rs375873260",null,-1,"IGHM","HGNC","HGNC:5541","IG_C_gene","YES",null,"ENSP00000490253","P01871.196",null,"UPI0007E52A5E","P01871-2",null,null,"A2","cds_start_NF","tolerated(0.07)","possibly_damaging(0.895)","2024-03-06",{"$nulls":8},0,1.189E-4,1.099E-4,0,0,0,"5.59e-05",0.000511,1.181E-4,1.662E-4,"3.273e-05",0.000511,"gnomAD_FIN","6.856449908809736e-05","2.470720028213691e-05",0,0,0,0.000218914006836712,0.000188288002391345,0,"9.2913796834182e-05",0,0,0.000188288002391345,"fin",{"$nulls":9},"MODERATE",1,"SNV",{"$nulls":3},1,"TGCACGTGAAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["NPAP1",23742,"BI","GRCh38","chr15",24677420,24677420,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1553C>A","p.Ser518Tyr","p.S518Y","ENST00000329468","2024-01-01",229,162,66,278,null,null,"NPAP1,missense_variant,p.S518Y,ENST00000329468,NM_018958.3,c.1553C>A,MODERATE,YES,deleterious(0),possibly_damaging(0.644),1;AC090983.2,intron_variant,,ENST00000650707,,n.407+107292C>A,MODIFIER,,,,1;AC090983.2,intron_variant,,ENST00000651136,,n.1530+53315C>A,MODIFIER,YES,,,1;PWRN1,intron_variant,,ENST00000652025,,n.1487+53315C>A,MODIFIER,,,,1;PWRN1,intron_variant,,ENST00000652139,,n.604+53315C>A,MODIFIER,,,,1;PWRN1,intron_variant,,ENST00000652735,,n.892+53315C>A,MODIFIER,,,,1","A","ENSG00000185823","ENST00000329468","Transcript","missense_variant","missense_variant","1646/7619","1553/3471","518/1156","S/Y","tCt/tAt","COSV61506873",null,1,"NPAP1","HGNC","HGNC:1190","protein_coding","YES","CCDS10015.1","ENSP00000333735","Q9NZP6.112",null,"UPI00001AFA1B",null,"NM_018958.3","NM_018958.3","P1",null,"deleterious(0)","possibly_damaging(0.644)","2024-01-01",null,"PANTHER:PTHR23193;PANTHER:PTHR23193:SF15",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,1,"AATATCTATGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM554427","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RYR3",6263,"BI","GRCh38","chr15",33722765,33722765,"+","Missense_Mutation","SNP","C","C","T","rs1188037949",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.6670C>T","p.Arg2224Cys","p.R2224C","ENST00000389232","44/104",151,111,40,148,null,null,"RYR3,missense_variant,p.R2224C,ENST00000634891,NM_001036.6,c.6670C>T,MODERATE,,deleterious(0),probably_damaging(1),1;RYR3,missense_variant,p.R2224C,ENST00000622037,,c.6670C>T,MODERATE,YES,deleterious(0),probably_damaging(0.944),1;RYR3,missense_variant,p.R2224C,ENST00000415757,NM_001243996.3,c.6670C>T,MODERATE,,deleterious(0),probably_damaging(0.985),1;RYR3,missense_variant,p.R2224C,ENST00000389232,,c.6670C>T,MODERATE,,deleterious(0),probably_damaging(0.989),1;RYR3,missense_variant,p.R2224C,ENST00000634418,,c.6670C>T,MODERATE,,deleterious(0),probably_damaging(0.944),1;Y_RNA,downstream_gene_variant,,ENST00000363138,,,MODIFIER,YES,,,1;RYR3,upstream_gene_variant,,ENST00000635790,,,MODIFIER,,,,1","T","ENSG00000198838","ENST00000389232","Transcript","missense_variant","missense_variant","6740/15552","6670/14610","2224/4869","R/C","Cgc/Tgc","rs1188037949;COSV63109442",null,1,"RYR3","HGNC","HGNC:10485","protein_coding",null,null,"ENSP00000373884",null,"A0A0X1KG73.25","UPI000719A1B2",{"$nulls":3},"A2",null,"deleterious(0)","probably_damaging(0.989)","44/104",null,"Pfam:PF01365;PANTHER:PTHR12864;PANTHER:PTHR12864:SF46;Superfamily:SSF48371",{"$nulls":8},"8.05e-06",0,"2.929e-05",0,0,0,"8.861e-06",0,0,"2.929e-05","gnomAD_AMR","1.3517899787984788e-05",0,0,0,0,0,0,0,"3.086039941990748e-05",0,0,"3.086039941990748e-05","nfe","uncertain_significance","0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"1;1",1,"TCAGACGCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM185445","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RASGRP1",10125,"BI","GRCh38","chr15",38494398,38494398,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2243A>G","p.Tyr748Cys","p.Y748C","ENST00000310803","16/17",38,20,18,46,null,null,"RASGRP1,missense_variant,p.Y748C,ENST00000310803,NM_005739.4,c.2243A>G,MODERATE,,tolerated_low_confidence(0.06),benign(0.01),-1;RASGRP1,missense_variant,p.Y748C,ENST00000539159,,c.2243A>G,MODERATE,,tolerated_low_confidence(0.06),possibly_damaging(0.844),-1;RASGRP1,missense_variant,p.Y762C,ENST00000558432,,c.2285A>G,MODERATE,,tolerated_low_confidence(0.05),possibly_damaging(0.9),-1;RASGRP1,missense_variant,p.Y799C,ENST00000561180,,c.2396A>G,MODERATE,YES,deleterious_low_confidence(0.04),probably_damaging(0.937),-1;RASGRP1,missense_variant,p.Y713C,ENST00000450598,NM_001128602.2,c.2138A>G,MODERATE,,tolerated_low_confidence(0.07),benign(0.023),-1;RASGRP1,intron_variant,,ENST00000558164,,c.1616-3710A>G,MODIFIER,,,,-1;RASGRP1,intron_variant,,ENST00000559830,NM_001306086.2,c.1769-3710A>G,MODIFIER,,,,-1;RASGRP1,3_prime_UTR_variant,,ENST00000414708,,c.*547A>G,MODIFIER,,,,-1;RASGRP1,downstream_gene_variant,,ENST00000557875,,,MODIFIER,,,,-1;RASGRP1,downstream_gene_variant,,ENST00000560425,,,MODIFIER,,,,-1;AC116158.3,non_coding_transcript_exon_variant,,ENST00000661802,,n.1091T>C,MODIFIER,YES,,,1","C","ENSG00000172575","ENST00000310803","Transcript","missense_variant","missense_variant","2429/5031","2243/2394","748/797","Y/C","tAc/tGc","COSV60365692",null,-1,"RASGRP1","HGNC","HGNC:9878","protein_coding",null,"CCDS45222.1","ENSP00000310244","O95267.166",null,"UPI000006FE1C","O95267-1","NM_005739.4","NM_005739.4","P4",null,"tolerated_low_confidence(0.06)","benign(0.01)","16/17",null,"PDB-ENSP_mappings:4l9u.A;PDB-ENSP_mappings:4l9u.B;Coiled-coils_(Ncoils):Coil",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CTTGGTAGGTA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4054229","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DISP2",85455,"BI","GRCh38","chr15",40367836,40367837,"+","Frame_Shift_Ins","INS","-","-","G","rs745509399",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1731dup","p.Leu578AlafsTer214","p.L578Afs*214","ENST00000267889","2024-08-08",29,20,9,42,null,null,"DISP2,frameshift_variant,p.L578Afs*214,ENST00000267889,NM_033510.3,c.1731dup,HIGH,YES,,,1;DISP2,upstream_gene_variant,,ENST00000558623,,,MODIFIER,,,,1;DISP2,upstream_gene_variant,,ENST00000561261,,,MODIFIER,,,,1;DISP2,downstream_gene_variant,,ENST00000559721,,,MODIFIER,,,,1;AC013356.4,downstream_gene_variant,,ENST00000558421,,,MODIFIER,YES,,,-1","G","ENSG00000140323","ENST00000267889","Transcript","frameshift_variant","frameshift_variant","1827-1828/12612","1724-1725/4206","575/1401","S/SX","tcg/tcGg","rs745509399",null,1,"DISP2","HGNC","HGNC:19712","protein_coding","YES","CCDS10056.1","ENSP00000267889","A7MBM2.88",null,"UPI0000160F9B",null,"NM_033510.3","NM_033510.3","P1",{"$nulls":3},"2024-08-08",null,"PROSITE_profiles:PS50156;PANTHER:PTHR45951;PANTHER:PTHR45951:SF2;Superfamily:SSF82866",{"$nulls":6},0.003759,0.001697,"4.216e-05",0,"8.737e-05",0,0,0,"3.64e-05",0.0003348,"3.288e-05",0.003759,"AA","2.0288100131438114e-05",0,0,0,0,0,0,0,"4.6300599933601916e-05",0,0,"4.6300599933601916e-05","nfe",{"$nulls":9},"HIGH",1,"insertion",1,7,null,null,"GCCGTCGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4677655","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["VPS18",57617,"BI","GRCh38","chr15",40899639,40899639,"+","Frame_Shift_Del","DEL","C","C","-","rs778441869",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.825del","p.Lys276SerfsTer12","p.K276Sfs*12","ENST00000220509","2024-04-05",118,77,40,145,null,null,"VPS18,frameshift_variant,p.K276Sfs*12,ENST00000220509,NM_020857.3,c.825del,HIGH,YES,,,1;VPS18,intron_variant,,ENST00000558474,,c.325+645del,MODIFIER,,,,1;VPS18,downstream_gene_variant,,ENST00000558855,,,MODIFIER,,,,1","-","ENSG00000104142","ENST00000220509","Transcript","frameshift_variant","frameshift_variant","1140/3875","821/2922","274/973","T/X","aCc/ac","rs778441869",null,1,"VPS18","HGNC","HGNC:15972","protein_coding","YES","CCDS10069.1","ENSP00000220509","Q9P253.172","A0A024R9R3.48","UPI0000049FBC",null,"NM_020857.3","NM_020857.3","P1",{"$nulls":3},"2024-04-05",null,"PANTHER:PTHR23323;PANTHER:PTHR23323:SF26",{"$nulls":8},"4e-06",0,0,0,0,0,0,0,"3.266e-05","3.266e-05","gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,4,null,null,"TCTACACCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DLL4",54567,"BI","GRCh38","chr15",40936267,40936267,"+","Missense_Mutation","SNP","G","G","A","rs771130564",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1280G>A","p.Arg427His","p.R427H","ENST00000249749","2024-09-11",22,18,4,38,null,null,"DLL4,missense_variant,p.R427H,ENST00000249749,NM_019074.4,c.1280G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.877),1;DLL4,downstream_gene_variant,,ENST00000559440,,,MODIFIER,,,,1","A","ENSG00000128917","ENST00000249749","Transcript","missense_variant","missense_variant","1609/3426","1280/2058","427/685","R/H","cGc/cAc","rs771130564;COSV51063853",null,1,"DLL4","HGNC","HGNC:2910","protein_coding","YES","CCDS45232.1","ENSP00000249749","Q9NR61.180",null,"UPI0000047825",null,"NM_019074.4","NM_019074.4","P1",null,"deleterious(0.03)","possibly_damaging(0.877)","2024-09-11",null,"Gene3D:2.10.25.10;Pfam:PF00008;PROSITE_patterns:PS00022;PROSITE_patterns:PS01186;PROSITE_profiles:PS50026;PANTHER:PTHR24044;PANTHER:PTHR24044:SF320;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184;CDD:cd00054",{"$nulls":8},"2.506e-05",0,"2.952e-05",0,0,0,"3.689e-05",0,"3.373e-05","3.689e-05","gnomAD_NFE","2.7028900149161927e-05","9.721479727886617e-05",0,0,0,0,0,0,0,0,0,"9.721479727886617e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GTGCCGCTGCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4054444","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TTBK2",146057,"BI","GRCh38","chr15",42752764,42752764,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2482del","p.Thr828HisfsTer16","p.T828Hfs*16","ENST00000267890","14/15",108,95,13,119,null,null,"TTBK2,frameshift_variant,p.T828Hfs*16,ENST00000267890,NM_173500.4,c.2482del,HIGH,,,,-1;TTBK2,frameshift_variant,p.T1233Hfs*16,ENST00000622375,,c.3697del,HIGH,YES,,,-1;AC090510.4,downstream_gene_variant,,ENST00000664583,,,MODIFIER,YES,,,1","-","ENSG00000128881","ENST00000267890","Transcript","frameshift_variant","frameshift_variant","2890/11208","2482/3735","828/1244","T/X","Aca/ca",null,null,-1,"TTBK2","HGNC","HGNC:19141","protein_coding",null,"CCDS42029.1","ENSP00000267890","Q6IQ55.160",null,"UPI0000043542","Q6IQ55-1","NM_173500.4","NM_173500.4",{"$nulls":4},"14/15",{"$nulls":43},"HIGH",null,"deletion",5,null,null,1,"TCTGTGTTTTTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CKMT1A",548596,"BI","GRCh38","chr15",43698063,43698063,"+","Missense_Mutation","SNP","G","G","A","rs759998899",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.926G>A","p.Arg309His","p.R309H","ENST00000434505","2024-08-10",221,152,69,272,null,null,"CKMT1A,missense_variant,p.R309H,ENST00000434505,NM_001321927.1&NM_001015001.2,c.926G>A,MODERATE,YES,tolerated(1),benign(0.011),1;CKMT1A,missense_variant,p.R309H,ENST00000413453,NM_001321928.1&NM_001321926.2&NM_001321929.1,c.926G>A,MODERATE,,tolerated(1),benign(0.011),1;CKMT1A,downstream_gene_variant,,ENST00000411750,,,MODIFIER,,,,1;CKMT1A,downstream_gene_variant,,ENST00000415044,,,MODIFIER,,,,1;CKMT1A,downstream_gene_variant,,ENST00000626814,,,MODIFIER,,,,1;RNU6-353P,upstream_gene_variant,,ENST00000364266,,,MODIFIER,YES,,,1;CKMT1A,downstream_gene_variant,,ENST00000483604,,,MODIFIER,,,,1;STRCP1,downstream_gene_variant,,ENST00000675830,,,MODIFIER,YES,,,-1;CKMT1A,downstream_gene_variant,,ENST00000457648,,,MODIFIER,,,,1;CKMT1A,downstream_gene_variant,,ENST00000479938,,,MODIFIER,,,,1;STRCP1,downstream_gene_variant,,ENST00000509801,,,MODIFIER,,,,-1","A","ENSG00000223572","ENST00000434505","Transcript","missense_variant","missense_variant","1318/1779","926/1254","309/417","R/H","cGt/cAt","rs759998899;COSV63256959",null,1,"CKMT1A","HGNC","HGNC:31736","protein_coding","YES","CCDS32217.1","ENSP00000413165","P12532.210",null,"UPI000012DCCE","P12532-1","NM_001321927.1;NM_001015001.2",null,"P1",null,"tolerated(1)","benign(0.011)","2024-08-10",null,"PDB-ENSP_mappings:1qk1.A;PDB-ENSP_mappings:1qk1.B;PDB-ENSP_mappings:1qk1.C;PDB-ENSP_mappings:1qk1.D;PDB-ENSP_mappings:1qk1.E;PDB-ENSP_mappings:1qk1.F;PDB-ENSP_mappings:1qk1.G;PDB-ENSP_mappings:1qk1.H;PROSITE_profiles:PS51510;CDD:cd00716;PANTHER:PTHR11547;PANTHER:PTHR11547:SF54;Gene3D:3.30.590.10;Pfam:PF00217;Superfamily:SSF55931",{"$nulls":8},"2.788e-05","6.158e-05","2.899e-05",0,0,0,"3.524e-05",0,"3.268e-05","6.158e-05","gnomAD_AFR","4.740490112453699e-05","7.312079833354801e-05",0,0,0,0,0,0,"6.178559851832688e-05",0,0,"7.312079833354801e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"TGAGCGTTTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4054870","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TMOD3",29766,"BI","GRCh38","chr15",51869365,51869365,"+","Frame_Shift_Del","DEL","A","A","-","rs759399045",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.282del","p.Ile97TyrfsTer23","p.I97Yfs*23","ENST00000308580","2024-03-10",90,58,32,84,null,null,"TMOD3,frameshift_variant,p.I97Yfs*23,ENST00000308580,NM_014547.5,c.282del,HIGH,YES,,,1","-","ENSG00000138594","ENST00000308580","Transcript","frameshift_variant","frameshift_variant","533/8232","275/1059","92/352","E/X","gAa/ga","rs759399045",null,1,"TMOD3","HGNC","HGNC:11873","protein_coding","YES","CCDS10145.1","ENSP00000308753","Q9NYL9.161",null,"UPI0000137082",null,"NM_014547.5","NM_014547.5","P1",{"$nulls":3},"2024-03-10",null,"Pfam:PF03250;PANTHER:PTHR10901;PANTHER:PTHR10901:SF18",{"$nulls":8},"2.552e-05","6.445e-05",0,0,0,0,"2.754e-05",0,"7.407e-05","7.407e-05","gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,7,null,null,"CTGGAGAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1373456","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MYO5A",4644,"BI","GRCh38","chr15",52397412,52397412,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1108G>A","p.Glu370Lys","p.E370K","ENST00000399231","10/41",106,90,16,118,null,null,"MYO5A,missense_variant,p.E370K,ENST00000399231,NM_000259.3&NM_001382349.1,c.1108G>A,MODERATE,,tolerated(0.18),benign(0.038),-1;MYO5A,missense_variant,p.E370K,ENST00000399233,NM_001382347.1&NM_001382348.1,c.1108G>A,MODERATE,YES,tolerated(0.2),benign(0.178),-1;MYO5A,missense_variant,p.E370K,ENST00000356338,NM_001142495.2,c.1108G>A,MODERATE,,tolerated(0.22),benign(0.124),-1;MYO5A,missense_variant,p.E370K,ENST00000553916,,c.1108G>A,MODERATE,,tolerated(0.24),benign(0.013),-1;MYO5A,3_prime_UTR_variant,,ENST00000556196,,c.*792G>A,MODIFIER,,,,-1;MYO5A,upstream_gene_variant,,ENST00000469611,,,MODIFIER,,,,-1","T","ENSG00000197535","ENST00000399231","Transcript","missense_variant","missense_variant","1352/12225","1108/5568","370/1855","E/K","Gag/Aag","COSV62561329",null,-1,"MYO5A","HGNC","HGNC:7602","protein_coding",null,"CCDS42037.1","ENSP00000382177","Q9Y4I1.198",null,"UPI0000E445E1","Q9Y4I1-1","NM_000259.3;NM_001382349.1",null,"A1",null,"tolerated(0.18)","benign(0.038)","10/41",null,"Gene3D:1.20.120.720;Gene3D:3.40.850.10;Pfam:PF00063;PROSITE_profiles:PS51456;PANTHER:PTHR13140;PANTHER:PTHR13140:SF273;SMART:SM00242;Superfamily:SSF52540;CDD:cd01380",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CATCTCCTCAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4055582;COSM4055583","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NEDD4",4734,"BI","GRCh38","chr15",55833076,55833077,"+","Frame_Shift_Ins","INS","-","-","T","rs1452682012",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3715dup","p.Arg1239LysfsTer21","p.R1239Kfs*21","ENST00000508342","23/25",126,92,34,108,null,null,"NEDD4,frameshift_variant,p.R1239Kfs*21,ENST00000508342,NM_001284338.1,c.3715dup,HIGH,YES,,,-1;NEDD4,frameshift_variant,p.R1167Kfs*21,ENST00000338963,NM_198400.3&NM_001329212.2,c.3499dup,HIGH,,,,-1;NEDD4,frameshift_variant,p.R1223Kfs*21,ENST00000506154,NM_001284339.1,c.3667dup,HIGH,,,,-1;NEDD4,frameshift_variant,p.R820Kfs*21,ENST00000435532,NM_006154.4,c.2458dup,HIGH,,,,-1;NEDD4,frameshift_variant,p.R830Kfs*21,ENST00000508871,NM_001284340.1,c.2487dup,HIGH,,,,-1;NEDD4,3_prime_UTR_variant,,ENST00000503468,,c.*1915dup,MODIFIER,,,,-1;NEDD4,3_prime_UTR_variant,,ENST00000648451,,c.*2237dup,MODIFIER,,,,-1","T","ENSG00000069869","ENST00000508342","Transcript","frameshift_variant","frameshift_variant","4015-4016/7235","3715-3716/3960","1239/1319","R/KX","aga/aAga","rs1452682012",null,-1,"NEDD4","HGNC","HGNC:7727","protein_coding","YES","CCDS61644.1","ENSP00000424827","P46934.209",null,"UPI00001FE52D","P46934-1","NM_001284338.1",{"$nulls":5},"23/25",null,"PDB-ENSP_mappings:2xbb.A;PDB-ENSP_mappings:2xbb.B;PDB-ENSP_mappings:2xbf.A;Gene3D:3.30.2410.10;PDB-ENSP_mappings:4bbn.A;PDB-ENSP_mappings:4be8.A;PDB-ENSP_mappings:5c7j.A;PDB-ENSP_mappings:5c7j.B;PDB-ENSP_mappings:5c91.A;Pfam:PF00632;PROSITE_profiles:PS50237;PANTHER:PTHR11254;PANTHER:PTHR11254:SF282;SMART:SM00119;Superfamily:SSF56204;CDD:cd00078",{"$nulls":19},"6.780030162190087e-06",0,0,0,0,0,0,0,"1.5444000382558443e-05",0,0,{"$nulls":11},"HIGH",1,"insertion",1,{"$nulls":3},"TTATTCTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ICE2",79664,"BI","GRCh38","chr15",60468225,60468225,"+","Missense_Mutation","SNP","T","T","G","rs753709361",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.244A>C","p.Ile82Leu","p.I82L","ENST00000261520","2024-04-16",66,47,19,76,null,null,"ICE2,missense_variant,p.I82L,ENST00000261520,NM_001018089.3&NM_024611.6,c.244A>C,MODERATE,YES,tolerated(0.16),benign(0.003),-1;ICE2,missense_variant,p.I82L,ENST00000561114,NM_001276385.2,c.244A>C,MODERATE,,tolerated(0.21),benign(0.023),-1;ICE2,missense_variant,p.I82L,ENST00000558512,,c.244A>C,MODERATE,,tolerated(0.2),benign(0.003),-1;ICE2,missense_variant,p.I82L,ENST00000560406,,c.244A>C,MODERATE,,tolerated(0.18),benign(0.003),-1;ICE2,missense_variant,p.I82L,ENST00000560520,,c.244A>C,MODERATE,,tolerated(0.18),benign(0.003),-1;ICE2,missense_variant,p.I82L,ENST00000560072,,c.244A>C,MODERATE,,tolerated(0.18),benign(0.003),-1;ICE2,intron_variant,,ENST00000558654,,n.419-63A>C,MODIFIER,,,,-1;ICE2,intron_variant,,ENST00000561087,,n.294-63A>C,MODIFIER,,,,-1;ICE2,intron_variant,,ENST00000558181,,c.147-63A>C,MODIFIER,,,,-1;ICE2,intron_variant,,ENST00000560668,,c.147-63A>C,MODIFIER,,,,-1;ICE2,intron_variant,,ENST00000560895,,c.146+7838A>C,MODIFIER,,,,-1;ICE2,intron_variant,,ENST00000561446,,c.111-63A>C,MODIFIER,,,,-1","G","ENSG00000128915","ENST00000261520","Transcript","missense_variant","missense_variant","476/7206","244/2949","82/982","I/L","Att/Ctt","rs753709361;COSV55031900",null,-1,"ICE2","HGNC","HGNC:29885","protein_coding","YES","CCDS10176.1","ENSP00000261520","Q659A1.117","A0A024R5V9.34","UPI00001A828C","Q659A1-1","NM_001018089.3;NM_024611.6","NM_024611.6","P1",null,"tolerated(0.16)","benign(0.003)","2024-04-16",null,"PANTHER:PTHR14633",{"$nulls":8},"7.956e-06",0,"2.893e-05",0,0,0,"8.795e-06",0,0,"2.893e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCCAATTGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4055966","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMAD6",4091,"BI","GRCh38","chr15",66781192,66781192,"+","Missense_Mutation","SNP","C","C","T","rs1410638809",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1148C>T","p.Thr383Met","p.T383M","ENST00000288840","2024-04-04",45,32,13,46,null,null,"SMAD6,missense_variant,p.T383M,ENST00000288840,NM_005585.5,c.1148C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.989),1;SMAD6,3_prime_UTR_variant,,ENST00000557916,,c.*263C>T,MODIFIER,,,,1;SMAD6,3_prime_UTR_variant,,ENST00000559931,,c.*263C>T,MODIFIER,,,,1","T","ENSG00000137834","ENST00000288840","Transcript","missense_variant","missense_variant","2171/3828","1148/1491","383/496","T/M","aCg/aTg","rs1410638809;COSV56593597",null,1,"SMAD6","HGNC","HGNC:6772","protein_coding","YES","CCDS10221.1","ENSP00000288840","O43541.190",null,"UPI0000071360","O43541-1","NM_005585.5","NM_005585.5","P1",null,"deleterious(0.02)","probably_damaging(0.989)","2024-04-04",null,"PROSITE_profiles:PS51076;CDD:cd10499;PANTHER:PTHR13703;PANTHER:PTHR13703:SF28;Pfam:PF03166;Gene3D:2.60.200.10;SMART:SM00524;Superfamily:SSF49879",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GCGAACGCGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2257361","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHRNB4",1143,"BI","GRCh38","chr15",78629223,78629223,"+","Missense_Mutation","SNP","G","G","A","rs375172518",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1082C>T","p.Pro361Leu","p.P361L","ENST00000261751","2024-05-06",55,43,12,59,null,null,"CHRNB4,missense_variant,p.P361L,ENST00000261751,NM_000750.5,c.1082C>T,MODERATE,YES,tolerated(0.45),benign(0.001),-1;CHRNB4,intron_variant,,ENST00000412074,NM_001256567.3,c.359+1853C>T,MODIFIER,,,,-1;CHRNB4,downstream_gene_variant,,ENST00000560511,,,MODIFIER,,,,-1;CHRNB4,downstream_gene_variant,,ENST00000559849,,,MODIFIER,,,,-1;AC067863.1,downstream_gene_variant,,ENST00000559120,,,MODIFIER,YES,,,1","A","ENSG00000117971","ENST00000261751","Transcript","missense_variant","missense_variant","1159/2596","1082/1497","361/498","P/L","cCg/cTg","rs375172518",null,-1,"CHRNB4","HGNC","HGNC:1964","protein_coding","YES","CCDS10306.1","ENSP00000261751","P30926.198",null,"UPI0000125276","P30926-1","NM_000750.5","NM_000750.5","P1",null,"tolerated(0.45)","benign(0.001)","2024-05-06",null,"PDB-ENSP_mappings:6pv7.B;PDB-ENSP_mappings:6pv7.C;PDB-ENSP_mappings:6pv7.E;PDB-ENSP_mappings:6pv8.B;PDB-ENSP_mappings:6pv8.C;PDB-ENSP_mappings:6pv8.E;Pfam:PF02932;PANTHER:PTHR18945;PANTHER:PTHR18945:SF385;Superfamily:SSF90112;TIGRFAM:TIGR00860",{"$nulls":6},0.0002277,0,"2.791e-05",0.0003697,0,0,0,0,"8.813e-06",0,0,0.0003697,"gnomAD_AFR","5.409499863162637e-05",0.000194590000319294,0,0,0,0,0,0,0,0,0,0.000194590000319294,"afr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TGGGCGGGAAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4057156","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MINAR1",23251,"BI","GRCh38","chr15",79457291,79457291,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1144T>C","p.Ser382Pro","p.S382P","ENST00000305428","2024-02-04",76,43,33,100,null,null,"MINAR1,missense_variant,p.S382P,ENST00000305428,NM_015206.3,c.1144T>C,MODERATE,YES,tolerated(0.3),benign(0.1),1;MINAR1,missense_variant,p.S382P,ENST00000559272,,c.1144T>C,MODERATE,,tolerated(0.33),possibly_damaging(0.723),1","C","ENSG00000169330","ENST00000305428","Transcript","missense_variant","missense_variant","1399/6926","1144/2751","382/916","S/P","Tcc/Ccc","COSV59583857",null,1,"MINAR1","HGNC","HGNC:29172","protein_coding","YES","CCDS32306.1","ENSP00000307461","Q9UPX6.120",null,"UPI00001B2F56",null,"NM_015206.3","NM_015206.3","P1",null,"tolerated(0.3)","benign(0.1)","2024-02-04",null,"PANTHER:PTHR31530:SF2;PANTHER:PTHR31530",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AACGGTCCTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4057214","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MINAR1",23251,"BI","GRCh38","chr15",79458244,79458244,"+","Frame_Shift_Del","DEL","A","A","-","rs748072217",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2104del","p.Ser702AlafsTer11","p.S702Afs*11","ENST00000305428","2024-02-04",128,90,37,153,null,null,"MINAR1,frameshift_variant,p.S702Afs*11,ENST00000305428,NM_015206.3,c.2104del,HIGH,YES,,,1;MINAR1,frameshift_variant,p.S702Afs*11,ENST00000559272,,c.2104del,HIGH,,,,1","-","ENSG00000169330","ENST00000305428","Transcript","frameshift_variant","frameshift_variant","2352/6926","2097/2751","699/916","L/X","ttA/tt","rs748072217;COSV59581461",null,1,"MINAR1","HGNC","HGNC:29172","protein_coding","YES","CCDS32306.1","ENSP00000307461","Q9UPX6.120",null,"UPI00001B2F56",null,"NM_015206.3","NM_015206.3","P1",{"$nulls":3},"2024-02-04",null,"PANTHER:PTHR31530:SF2;PANTHER:PTHR31530",{"$nulls":8},"2.795e-05",0,0,0,0,0,"6.176e-05",0,0,"6.176e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",null,"GGCCTTAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1180821","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["HDGFL3",50810,"BI","GRCh38","chr15",83151276,83151276,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.545G>T","p.Gly182Val","p.G182V","ENST00000299633","2024-05-06",105,98,7,101,null,null,"HDGFL3,missense_variant,p.G182V,ENST00000299633,NM_016073.4,c.545G>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.272),-1;HDGFL3,missense_variant,p.G111V,ENST00000568294,,c.332G>T,MODERATE,,deleterious(0),possibly_damaging(0.461),-1;HDGFL3,3_prime_UTR_variant,,ENST00000563790,,c.*467G>T,MODIFIER,,,,-1","A","ENSG00000166503","ENST00000299633","Transcript","missense_variant","missense_variant","954/12538","545/612","182/203","G/V","gGt/gTt","COSV55206557",null,-1,"HDGFL3","HGNC","HGNC:24937","protein_coding","YES","CCDS32314.1","ENSP00000299633","Q9Y3E1.147","A0A024R216.53","UPI000006D757",null,"NM_016073.4","NM_016073.4","P1",null,"deleterious_low_confidence(0.01)","benign(0.272)","2024-05-06",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR12550;PANTHER:PTHR12550:SF41",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTCCACCCTCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4057411","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ALPK3",57538,"BI","GRCh38","chr15",84840679,84840679,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1400C>T","p.Thr467Ile","p.T467I","ENST00000258888","2024-05-14",87,61,26,73,null,null,"ALPK3,missense_variant,p.T467I,ENST00000258888,NM_020778.5,c.1400C>T,MODERATE,YES,tolerated_low_confidence(0.29),benign(0.001),1","T","ENSG00000136383","ENST00000258888","Transcript","missense_variant","missense_variant","1497/10238","1400/5118","467/1705","T/I","aCa/aTa","COSV51934849",null,1,"ALPK3","HGNC","HGNC:17574","protein_coding","YES",null,"ENSP00000258888","Q96L96.132",null,"UPI00001FEA90",null,"NM_020778.5","NM_020778.5","P1",null,"tolerated_low_confidence(0.29)","benign(0.001)","2024-05-14",null,"PANTHER:PTHR47091;PANTHER:PTHR47091:SF1;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCCCACACACT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4057506;COSM4057507","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MCTP2",55784,"BI","GRCh38","chr15",94401927,94401927,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1996del","p.Arg666GlufsTer23","p.R666Efs*23","ENST00000357742","16/22",58,44,14,66,null,null,"MCTP2,frameshift_variant,p.R666Efs*23,ENST00000357742,NM_018349.3,c.1996del,HIGH,YES,,,1;MCTP2,frameshift_variant,p.R666Efs*23,ENST00000451018,NM_001159643.1,c.1996del,HIGH,,,,1;MCTP2,frameshift_variant,p.R254Efs*23,ENST00000557742,NM_001159644.2,c.760del,HIGH,,,,1;MCTP2,3_prime_UTR_variant,,ENST00000456504,,c.*1534del,MODIFIER,,,,1;MCTP2,non_coding_transcript_exon_variant,,ENST00000557505,,n.496del,MODIFIER,,,,1","-","ENSG00000140563","ENST00000357742","Transcript","frameshift_variant","frameshift_variant","2317/7879","1993/2637","665/878","K/X","Aaa/aa",null,null,1,"MCTP2","HGNC","HGNC:25636","protein_coding","YES","CCDS32338.1","ENSP00000350377","Q6DN12.128",null,"UPI0000D613A2","Q6DN12-1","NM_018349.3",null,"P1",{"$nulls":3},"16/22",null,"PANTHER:PTHR45911;PANTHER:PTHR45911:SF2",{"$nulls":41},"HIGH",1,"deletion",1,3,null,1,"CGTGTGAAAAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PGAP6",58986,"BI","GRCh38","chr16",376666,376666,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.782C>G","p.Ala261Gly","p.A261G","ENST00000431232","2024-05-13",23,19,4,16,null,null,"PGAP6,missense_variant,p.A261G,ENST00000431232,NM_021259.3,c.782C>G,MODERATE,YES,tolerated(0.42),benign(0),-1;PGAP6,missense_variant,p.A68G,ENST00000250930,,c.203C>G,MODERATE,,tolerated(0.42),benign(0),-1;PGAP6,upstream_gene_variant,,ENST00000424078,,,MODIFIER,,,,-1;PGAP6,downstream_gene_variant,,ENST00000427313,,,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000448854,,,MODIFIER,,,,-1;PGAP6,downstream_gene_variant,,ENST00000476735,,,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000467452,,,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000475348,,,MODIFIER,,,,-1","C","ENSG00000129925","ENST00000431232","Transcript","missense_variant","missense_variant","939/3672","782/2316","261/771","A/G","gCc/gGc","COSV51740282",null,-1,"PGAP6","HGNC","HGNC:17205","protein_coding","YES","CCDS10407.1","ENSP00000401338","Q9HCN3.155",null,"UPI000013CCD4",null,"NM_021259.3","NM_021259.3","P2",null,"tolerated(0.42)","benign(0)","2024-05-13",null,"PANTHER:PTHR14319:SF7;PANTHER:PTHR14319",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGGGGGCACCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4060749","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PGAP6",58986,"BI","GRCh38","chr16",377749,377749,"+","Frame_Shift_Del","DEL","G","G","-","rs1287775735",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.221del","p.Pro74GlnfsTer60","p.P74Qfs*60","ENST00000431232","2024-02-13",12,8,4,13,null,null,"PGAP6,frameshift_variant,p.P74Qfs*60,ENST00000431232,NM_021259.3,c.221del,HIGH,YES,,,-1;PGAP6,5_prime_UTR_variant,,ENST00000250930,,c.-359del,MODIFIER,,,,-1;PGAP6,intron_variant,,ENST00000427313,,c.-280-164del,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000424078,,,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000448854,,,MODIFIER,,,,-1;PGAP6,non_coding_transcript_exon_variant,,ENST00000476735,,n.458del,MODIFIER,,,,-1;Z97634.1,upstream_gene_variant,,ENST00000412293,,,MODIFIER,YES,,,1;Z97634.1,upstream_gene_variant,,ENST00000457760,,,MODIFIER,,,,1;PGAP6,upstream_gene_variant,,ENST00000467452,,,MODIFIER,,,,-1;PGAP6,upstream_gene_variant,,ENST00000475348,,,MODIFIER,,,,-1","-","ENSG00000129925","ENST00000431232","Transcript","frameshift_variant","frameshift_variant","378/3672","221/2316","74/771","P/X","cCa/ca","rs1287775735",null,-1,"PGAP6","HGNC","HGNC:17205","protein_coding","YES","CCDS10407.1","ENSP00000401338","Q9HCN3.155",null,"UPI000013CCD4",null,"NM_021259.3","NM_021259.3","P2",{"$nulls":3},"2024-02-13",null,"PANTHER:PTHR14319:SF7;PANTHER:PTHR14319",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,{"$nulls":3},"GCATCTGGGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PRR35",146325,"BI","GRCh38","chr16",564093,564093,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.799C>T","p.Pro267Ser","p.P267S","ENST00000409413","2024-02-03",11,8,3,12,null,null,"PRR35,missense_variant,p.P267S,ENST00000409413,NM_145270.3,c.799C>T,MODERATE,YES,deleterious(0),probably_damaging(0.995),1;PIGQ,upstream_gene_variant,,ENST00000293874,,,MODIFIER,,,,1;PIGQ,upstream_gene_variant,,ENST00000409527,,,MODIFIER,,,,1;NHLRC4,upstream_gene_variant,,ENST00000424439,NM_001301159.2,,MODIFIER,YES,,,1;NHLRC4,upstream_gene_variant,,ENST00000540585,NM_176677.3,,MODIFIER,,,,1;Z98883.1,upstream_gene_variant,,ENST00000409439,,,MODIFIER,,,,1","T","ENSG00000161992","ENST00000409413","Transcript","missense_variant","missense_variant","1106/2245","799/1716","267/571","P/S","Ccg/Tcg","COSV53463428",null,1,"PRR35","HGNC","HGNC:14139","protein_coding","YES","CCDS45365.1","ENSP00000386499","P0CG20.60",null,"UPI000006F4B0",null,"NM_145270.3","NM_145270.3","P1",null,"deleterious(0)","probably_damaging(0.995)","2024-02-03",null,"PANTHER:PTHR14678;PANTHER:PTHR14678:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACTACCCGCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4061594","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PIGQ",9091,"BI","GRCh38","chr16",582963,582963,"+","Missense_Mutation","SNP","C","C","T","rs760639555",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1612C>T","p.Arg538Cys","p.R538C","ENST00000026218","2024-10-10",136,91,45,135,null,null,"PIGQ,missense_variant,p.R538C,ENST00000026218,NM_148920.3,c.1612C>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0),1;PIGQ,synonymous_variant,p.G558=,ENST00000321878,NM_004204.5,c.1674C>T,LOW,,,,1;PIGQ,synonymous_variant,p.G558=,ENST00000409527,,c.1674C>T,LOW,,,,1;PIGQ,synonymous_variant,p.G116=,ENST00000540241,,c.348C>T,LOW,,,,1;PIGQ,downstream_gene_variant,,ENST00000540548,,,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000544860,,,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000635935,,,MODIFIER,,,,1;PIGQ,upstream_gene_variant,,ENST00000638152,,,MODIFIER,,,,1;PIGQ,3_prime_UTR_variant,,ENST00000636657,,c.*1156C>T,MODIFIER,,,,1;PIGQ,3_prime_UTR_variant,,ENST00000635909,,c.*896C>T,MODIFIER,,,,1;PIGQ,3_prime_UTR_variant,,ENST00000443147,,c.*134C>T,MODIFIER,,,,1;PIGQ,3_prime_UTR_variant,,ENST00000636005,,c.*224C>T,MODIFIER,,,,1;PIGQ,3_prime_UTR_variant,,ENST00000635205,,c.*134C>T,MODIFIER,,,,1;PIGQ,non_coding_transcript_exon_variant,,ENST00000480424,,n.1057C>T,MODIFIER,,,,1;PIGQ,non_coding_transcript_exon_variant,,ENST00000476438,,n.630C>T,MODIFIER,,,,1;PIGQ,non_coding_transcript_exon_variant,,ENST00000634341,,n.87C>T,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000420990,,,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000537901,,,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000637468,,,MODIFIER,,,,1;PIGQ,downstream_gene_variant,,ENST00000638143,,,MODIFIER,,,,1","T","ENSG00000007541","ENST00000026218","Transcript","missense_variant","missense_variant","1700/2846","1612/2283","538/760","R/C","Cgc/Tgc","rs760639555;COSV50315164",null,1,"PIGQ","HGNC","HGNC:14135","protein_coding","YES","CCDS10411.1","ENSP00000026218","Q9BRB3.156",null,"UPI000006CC88","Q9BRB3-1","NM_148920.3",null,"A2",null,"deleterious_low_confidence(0.01)","benign(0)","2024-10-10",null,"PANTHER:PTHR21329",{"$nulls":8},0.0001834,0,1.129E-3,0,0,0,"1.765e-05",0,0.0001634,1.129E-3,"gnomAD_AMR","1.3522800145437941e-05",0,0,1.32450004457496E-4,0,0,0,0,0,0,0,1.32450004457496E-4,"amr","likely_benign","0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"TGGGGCGCCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4061626;COSM4061627","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["WDR90",197335,"BI","GRCh38","chr16",651719,651719,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.812C>A","p.Pro271Gln","p.P271Q","ENST00000293879","8/41",225,199,26,258,null,null,"WDR90,missense_variant,p.P271Q,ENST00000549091,,c.812C>A,MODERATE,YES,tolerated(0.37),possibly_damaging(0.483),1;WDR90,missense_variant,p.P271Q,ENST00000293879,NM_145294.5,c.812C>A,MODERATE,,tolerated(0.37),benign(0.123),1;MCRIP2,downstream_gene_variant,,ENST00000307650,NM_138418.4&NM_001331229.2,,MODIFIER,YES,,,1;WDR90,upstream_gene_variant,,ENST00000552648,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000611328,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000615744,,,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,,n.1254C>A,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000549648,,n.876C>A,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000420061,,n.876C>A,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000474840,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000491999,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000546516,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000547407,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000548859,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000550593,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000552728,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000575894,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000619674,,,MODIFIER,,,,1;MCRIP2,downstream_gene_variant,,ENST00000620462,,,MODIFIER,,,,1;AL022341.1,upstream_gene_variant,,ENST00000455294,,,MODIFIER,YES,,,-1;AL022341.2,downstream_gene_variant,,ENST00000573609,,,MODIFIER,YES,,,-1","A","ENSG00000161996","ENST00000293879","Transcript","missense_variant","missense_variant","864/5540","812/5247","271/1748","P/Q","cCa/cAa","COSV53471260",null,1,"WDR90","HGNC","HGNC:26960","protein_coding",null,"CCDS42092.1","ENSP00000293879","Q96KV7.151",null,"UPI0000D67C48","Q96KV7-1","NM_145294.5","NM_145294.5","P4",null,"tolerated(0.37)","benign(0.123)","8/41",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GTCTCCAGTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4062302","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GNG13",51764,"BI","GRCh38","chr16",799007,799007,"+","Missense_Mutation","SNP","C","C","T","rs200381353",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.71G>A","p.Arg24Gln","p.R24Q","ENST00000248150","2024-02-03",52,35,17,59,null,null,"GNG13,missense_variant,p.R24Q,ENST00000248150,NM_016541.3,c.71G>A,MODERATE,YES,deleterious(0),probably_damaging(0.986),-1;CHTF18,downstream_gene_variant,,ENST00000262315,NM_022092.3,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000317063,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000455171,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000631357,,,MODIFIER,YES,,,1;CHTF18,intron_variant,,ENST00000564940,,n.146+821C>T,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000461268,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000493715,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000464728,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000471202,,,MODIFIER,,,,1;CHTF18,downstream_gene_variant,,ENST00000498439,,,MODIFIER,,,,1","T","ENSG00000127588","ENST00000248150","Transcript","missense_variant","missense_variant","174/985","71/204","24/67","R/Q","cGg/cAg","rs200381353;COSV50210270",null,-1,"GNG13","HGNC","HGNC:14131","protein_coding","YES","CCDS10427.1","ENSP00000248150","Q9P2W3.155",null,"UPI00000372F3",null,"NM_016541.3","NM_016541.3","P1",null,"deleterious(0)","probably_damaging(0.986)","2024-02-03",null,"Gene3D:4.10.260.10;Pfam:PF00631;Prints:PR00321;PROSITE_profiles:PS50058;PANTHER:PTHR15936;SMART:SM00224;SMART:SM01224;Superfamily:SSF48670;CDD:cd00068",0.0002,0,0,1E-3,0,0,null,null,"3.207e-05",0,"8.686e-05",0,1.089E-4,"4.64e-05","8.92e-06",0,"3.268e-05",1E-3,"EAS","3.380529960850254e-05",0,0,1.32468005176633E-4,0,0.000404694001190364,0,0,"1.5435900422744453e-05",0,0,0.000404694001190364,"eas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCTCCCGCTGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4063327","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRAF7",84231,"BI","GRCh38","chr16",2173816,2173816,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1115T>C","p.Leu372Pro","p.L372P","ENST00000326181","2024-12-21",67,46,21,67,null,null,"TRAF7,missense_variant,p.L372P,ENST00000326181,NM_032271.3,c.1115T>C,MODERATE,YES,deleterious(0.02),probably_damaging(0.962),1;CASKIN1,downstream_gene_variant,,ENST00000343516,NM_020764.4,,MODIFIER,YES,,,-1;TRAF7,downstream_gene_variant,,ENST00000567645,,,MODIFIER,,,,1;TRAF7,non_coding_transcript_exon_variant,,ENST00000570169,,n.71T>C,MODIFIER,,,,1;TRAF7,downstream_gene_variant,,ENST00000564067,,,MODIFIER,,,,1;TRAF7,downstream_gene_variant,,ENST00000569686,,,MODIFIER,,,,1","C","ENSG00000131653","ENST00000326181","Transcript","missense_variant","missense_variant","1230/3683","1115/2013","372/670","L/P","cTg/cCg","COSV58215272",null,1,"TRAF7","HGNC","HGNC:20456","protein_coding","YES","CCDS10461.1","ENSP00000318944","Q6Q0C0.170",null,"UPI000014186F","Q6Q0C0-1","NM_032271.3","NM_032271.3","P1",null,"deleterious(0.02)","probably_damaging(0.962)","2024-12-21",null,"PANTHER:PTHR44156;PANTHER:PTHR44156:SF10",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCGGCTGAACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059259","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CASKIN1",57524,"BI","GRCh38","chr16",2189255,2189255,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.469G>A","p.Glu157Lys","p.E157K","ENST00000343516","2024-05-20",67,50,17,57,null,null,"CASKIN1,missense_variant,p.E157K,ENST00000343516,NM_020764.4,c.469G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.805),-1;CASKIN1,upstream_gene_variant,,ENST00000564289,,,MODIFIER,,,,-1;CASKIN1,non_coding_transcript_exon_variant,,ENST00000562055,,n.157G>A,MODIFIER,,,,-1","T","ENSG00000167971","ENST00000343516","Transcript","missense_variant","missense_variant","642/5839","469/4296","157/1431","E/K","Gag/Aag","COSV58873534",null,-1,"CASKIN1","HGNC","HGNC:20879","protein_coding","YES","CCDS42103.1","ENSP00000345436","Q8WXD9.145",null,"UPI0000073A3B",null,"NM_020764.4","NM_020764.4","P1",null,"deleterious(0.03)","possibly_damaging(0.805)","2024-05-20",null,"Gene3D:1.25.40.960;Pfam:PF13637;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;PANTHER:PTHR24174;PANTHER:PTHR24174:SF11;SMART:SM00248;Superfamily:SSF48403",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAACTCGCAGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059296","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRSS33",260429,"BI","GRCh38","chr16",2785833,2785833,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.208del","p.Gln70SerfsTer4","p.Q70Sfs*4","ENST00000293851","2024-03-06",28,20,7,21,null,null,"PRSS33,frameshift_variant,p.Q70Sfs*4,ENST00000576886,,c.208del,HIGH,,,,-1;PRSS33,frameshift_variant,p.Q70Sfs*4,ENST00000293851,NM_152891.2,c.208del,HIGH,YES,,,-1;PRSS33,frameshift_variant,p.Q70Sfs*4,ENST00000570702,,c.208del,HIGH,,,,-1;PRSS33,frameshift_variant,p.Q59Sfs*4,ENST00000571674,,c.175del,HIGH,,,,-1","-","ENSG00000103355","ENST00000293851","Transcript","frameshift_variant","frameshift_variant","368/1694","208/843","70/280","Q/X","Cag/ag",null,null,-1,"PRSS33","HGNC","HGNC:30405","protein_coding","YES","CCDS42110.1","ENSP00000293851","Q8NF86.120",null,"UPI0000062251",null,"NM_152891.2",null,"P1",{"$nulls":3},"2024-03-06",null,"Gene3D:2.40.10.10;Gene3D:2.40.10.10;Pfam:PF00089;Prints:PR00722;PROSITE_profiles:PS50240;PANTHER:PTHR24256;PANTHER:PTHR24256:SF219;SMART:SM00020;Superfamily:SSF50494;CDD:cd00190",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"CCCACTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["CREBBP",1387,"BI","GRCh38","chr16",3728386,3728386,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.6661A>G","p.Met2221Val","p.M2221V","ENST00000262367","31/31",27,19,8,34,null,null,"CREBBP,missense_variant,p.M2221V,ENST00000262367,NM_004380.3,c.6661A>G,MODERATE,YES,tolerated_low_confidence(0.35),benign(0),-1;CREBBP,missense_variant,p.M2183V,ENST00000382070,NM_001079846.1,c.6547A>G,MODERATE,,tolerated_low_confidence(0.36),benign(0),-1;CREBBP,downstream_gene_variant,,ENST00000637492,,,MODIFIER,,,,-1;CREBBP,downstream_gene_variant,,ENST00000571763,,,MODIFIER,,,,-1;CREBBP,downstream_gene_variant,,ENST00000576720,,,MODIFIER,,,,-1","C","ENSG00000005339","ENST00000262367","Transcript","missense_variant","missense_variant","7458/10790","6661/7329","2221/2442","M/V","Atg/Gtg","CM021087;COSV52127760",null,-1,"CREBBP","HGNC","HGNC:2348","protein_coding","YES","CCDS10509.1","ENSP00000262367","Q92793.241",null,"UPI0000000620","Q92793-1","NM_004380.3","NM_004380.3","P1",null,"tolerated_low_confidence(0.35)","benign(0)","31/31",null,"PANTHER:PTHR13808;PANTHER:PTHR13808:SF34;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"AGCCATGCCGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4060691","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEC14L5",9717,"BI","GRCh38","chr16",4988170,4988170,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.235G>A","p.Val79Ile","p.V79I","ENST00000251170","2024-04-16",41,28,13,66,null,null,"SEC14L5,missense_variant,p.V79I,ENST00000251170,NM_014692.2,c.235G>A,MODERATE,YES,tolerated(0.15),benign(0.012),1;SEC14L5,missense_variant,p.V79I,ENST00000587469,,c.235G>A,MODERATE,,tolerated(0.27),benign(0.012),1","A","ENSG00000103184","ENST00000251170","Transcript","missense_variant","missense_variant","402/6445","235/2091","79/696","V/I","Gtc/Atc","COSV52039258",null,1,"SEC14L5","HGNC","HGNC:29032","protein_coding","YES","CCDS45403.1","ENSP00000251170","O43304.145",null,"UPI00001C1FA3",null,"NM_014692.2","NM_014692.2","P1",null,"tolerated(0.15)","benign(0.012)","2024-04-16",null,"PROSITE_profiles:PS50904;PANTHER:PTHR23324;PANTHER:PTHR23324:SF39;Pfam:PF04707",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACGTGGTCTTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4061083","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EMP2",2013,"BI","GRCh38","chr16",10537945,10537945,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.299T>C","p.Ile100Thr","p.I100T","ENST00000359543","2024-04-05",146,102,44,151,null,null,"EMP2,missense_variant,p.I100T,ENST00000359543,NM_001424.6,c.299T>C,MODERATE,YES,tolerated(0.1),benign(0.158),-1;EMP2,missense_variant,p.I100T,ENST00000536829,,c.299T>C,MODERATE,,tolerated(0.1),benign(0.158),-1","G","ENSG00000213853","ENST00000359543","Transcript","missense_variant","missense_variant","409/5097","299/504","100/167","I/T","aTc/aCc","COSV63996083",null,-1,"EMP2","HGNC","HGNC:3334","protein_coding","YES","CCDS10541.1","ENSP00000352540","P54851.158",null,"UPI0000129EAA",null,"NM_001424.6","NM_001424.6","P1",null,"tolerated(0.1)","benign(0.158)","2024-04-05",null,"Gene3D:1.20.140.150;Pfam:PF00822;PANTHER:PTHR10671;PANTHER:PTHR10671:SF32;Transmembrane_helices:TMhelix",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGATGATGGAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4058132","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMG1",23049,"BI","GRCh38","chr16",18853816,18853816,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4535G>A","p.Cys1512Tyr","p.C1512Y","ENST00000446231","31/63",24,14,10,24,null,null,"SMG1,missense_variant,p.C1512Y,ENST00000446231,NM_015092.5,c.4535G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.979),-1;SMG1,missense_variant,p.C1402Y,ENST00000565324,,c.4205G>A,MODERATE,,tolerated(0.11),probably_damaging(0.964),-1;SMG1,downstream_gene_variant,,ENST00000563235,,,MODIFIER,,,,-1;SMG1,upstream_gene_variant,,ENST00000562668,,,MODIFIER,,,,-1;SMG1,upstream_gene_variant,,ENST00000563448,,,MODIFIER,,,,-1;SMG1,downstream_gene_variant,,ENST00000569764,,,MODIFIER,,,,-1","T","ENSG00000157106","ENST00000446231","Transcript","missense_variant","missense_variant","4902/16062","4535/10986","1512/3661","C/Y","tGc/tAc","COSV67172340",null,-1,"SMG1","HGNC","HGNC:30045","protein_coding","YES","CCDS45430.1","ENSP00000402515","Q96Q15.169",null,"UPI00004F8E22","Q96Q15-1","NM_015092.5","NM_015092.5","P1",null,"deleterious(0.05)","probably_damaging(0.979)","31/63",null,"PDB-ENSP_mappings:6l53.A;PDB-ENSP_mappings:6l54.A;PDB-ENSP_mappings:6syt.A;PROSITE_profiles:PS51189;PANTHER:PTHR11139;PANTHER:PTHR11139:SF71;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACTTGCAGAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4058810;COSM4058811","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ITPRIPL2",162073,"BI","GRCh38","chr16",19115284,19115284,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.823C>T","p.Arg275Trp","p.R275W","ENST00000381440","2024-01-01",145,93,51,181,null,null,"ITPRIPL2,missense_variant,p.R275W,ENST00000381440,NM_001034841.3,c.823C>T,MODERATE,YES,deleterious(0),probably_damaging(0.948),1;ITPRIPL2,non_coding_transcript_exon_variant,,ENST00000566735,,n.837C>T,MODIFIER,,,,1;AC099518.3,intron_variant,,ENST00000564808,,n.418+349C>T,MODIFIER,YES,,,1;AC099518.3,intron_variant,,ENST00000568526,,n.211+499C>T,MODIFIER,,,,1;AC099518.5,downstream_gene_variant,,ENST00000567236,,,MODIFIER,YES,,,-1;AC099518.6,upstream_gene_variant,,ENST00000617407,,,MODIFIER,YES,,,-1","T","ENSG00000205730","ENST00000381440","Transcript","missense_variant","missense_variant","902/7247","823/1608","275/535","R/W","Cgg/Tgg","COSV67347324;COSV67347766",null,1,"ITPRIPL2","HGNC","HGNC:27257","protein_coding","YES","CCDS32395.1","ENSP00000370849","Q3MIP1.111",null,"UPI000023760C",null,"NM_001034841.3",null,"P1",null,"deleterious(0)","probably_damaging(0.948)","2024-01-01",null,"Pfam:PF03281;PANTHER:PTHR10656;PANTHER:PTHR10656:SF9;SMART:SM01265",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"1;1",null,"GCTGTCGGGTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4058836","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACSM2B",348158,"BI","GRCh38","chr16",20548437,20548437,"+","Missense_Mutation","SNP","C","C","T","rs1222642876",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.931G>A","p.Ala311Thr","p.A311T","ENST00000329697","2024-07-14",140,98,42,151,null,null,"ACSM2B,missense_variant,p.A311T,ENST00000329697,NM_001105069.2&NM_182617.4,c.931G>A,MODERATE,YES,tolerated(0.06),possibly_damaging(0.546),-1;ACSM2B,missense_variant,p.A311T,ENST00000414188,,c.931G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.546),-1;ACSM2B,missense_variant,p.A311T,ENST00000565232,,c.931G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.546),-1;ACSM2B,missense_variant,p.A311T,ENST00000567001,,c.931G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.546),-1;ACSM2B,missense_variant,p.A232T,ENST00000565322,,c.694G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.546),-1;ACSM2B,missense_variant,p.A80T,ENST00000567288,,c.238G>A,MODERATE,,tolerated(0.13),probably_damaging(0.918),-1;ACSM2B,upstream_gene_variant,,ENST00000568098,,,MODIFIER,,,,-1;ACSM2B,downstream_gene_variant,,ENST00000569163,,,MODIFIER,,,,-1;ACSM2B,3_prime_UTR_variant,,ENST00000569327,,c.*447G>A,MODIFIER,,,,-1;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,,n.32G>A,MODIFIER,,,,-1;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,,n.1106G>A,MODIFIER,,,,-1;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,,n.860G>A,MODIFIER,,,,-1;ACSM2B,upstream_gene_variant,,ENST00000569131,,,MODIFIER,,,,-1","T","ENSG00000066813","ENST00000329697","Transcript","missense_variant","missense_variant","1100/2935","931/1734","311/577","A/T","Gcc/Acc","rs1222642876;COSV61658396",null,-1,"ACSM2B","HGNC","HGNC:30931","protein_coding","YES","CCDS10586.1","ENSP00000327453","Q68CK6.126",null,"UPI00001AFAA7",null,"NM_001105069.2;NM_182617.4","NM_001105069.2","P1",null,"tolerated(0.06)","possibly_damaging(0.546)","2024-07-14",null,"CDD:cd05928;PANTHER:PTHR43605:SF14;PANTHER:PTHR43605;Gene3D:3.40.50.12780;Pfam:PF00501;Superfamily:SSF56801",{"$nulls":8},"3.983e-06",0,0,0,0,0,"8.819e-06",0,0,"8.819e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGGGGCACCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4058990","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH3",55567,"BI","GRCh38","chr16",21069417,21069417,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3379G>T","p.Ala1127Ser","p.A1127S","ENST00000261383","23/62",115,91,24,133,null,null,"DNAH3,missense_variant,p.A1127S,ENST00000261383,NM_017539.2&NM_001347886.2,c.3379G>T,MODERATE,YES,tolerated(0.13),benign(0.06),-1","A","ENSG00000158486","ENST00000261383","Transcript","missense_variant","missense_variant;splice_region_variant","3379/12394","3379/12351","1127/4116","A/S","Gcg/Tcg","COSV54529031;COSV54542538",null,-1,"DNAH3","HGNC","HGNC:2949","protein_coding","YES","CCDS10594.1","ENSP00000261383","Q8TD57.138",null,"UPI00001100F2","Q8TD57-1","NM_017539.2;NM_001347886.2",null,"P1",null,"tolerated(0.13)","benign(0.06)","23/62",null,"Gene3D:1.20.140.100;Pfam:PF08393;PANTHER:PTHR10676;PANTHER:PTHR10676:SF242",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"TACCGCTTGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059102;COSM4059103","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HS3ST2",9956,"BI","GRCh38","chr16",22915308,22915308,"+","Missense_Mutation","SNP","G","G","A","rs1029443879",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.850G>A","p.Glu284Lys","p.E284K","ENST00000261374","2024-02-02",225,165,59,237,null,null,"HS3ST2,missense_variant,p.E284K,ENST00000261374,NM_006043.2,c.850G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.998),1;HS3ST2,3_prime_UTR_variant,,ENST00000473392,,c.*652G>A,MODIFIER,,,,1","A","ENSG00000122254","ENST00000261374","Transcript","missense_variant","missense_variant","1299/2329","850/1104","284/367","E/K","Gag/Aag","rs1029443879;COSV54463649",null,1,"HS3ST2","HGNC","HGNC:5195","protein_coding","YES","CCDS10606.1","ENSP00000261374","Q9Y278.143",null,"UPI000004C63A",null,"NM_006043.2","NM_006043.2","P1",null,"deleterious(0.01)","probably_damaging(0.998)","2024-02-02",null,"PANTHER:PTHR10605:SF10;PANTHER:PTHR10605;Pfam:PF00685;Gene3D:3.40.50.300;Superfamily:SSF52540",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCGGCGAGATG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059331","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KATNIP",23247,"BI","GRCh38","chr16",27777616,27777616,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4558G>A","p.Val1520Met","p.V1520M","ENST00000261588","26/28",55,33,21,91,null,null,"KATNIP,missense_variant,p.V1520M,ENST00000261588,NM_015202.5,c.4558G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;KATNIP,non_coding_transcript_exon_variant,,ENST00000568622,,n.171G>A,MODIFIER,,,,1","A","ENSG00000047578","ENST00000261588","Transcript","missense_variant","missense_variant","4585/6624","4558/4857","1520/1618","V/M","Gtg/Atg","COSV55183409",null,1,"KATNIP","HGNC","HGNC:29068","protein_coding","YES","CCDS32415.1","ENSP00000261588","O60303.136",null,"UPI000045693C",null,"NM_015202.5",null,"P1",null,"deleterious(0)","probably_damaging(0.999)","26/28",null,"Pfam:PF14652;PANTHER:PTHR21534",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TCCTGGTGGAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059702;COSM4059703","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SBK1",388228,"BI","GRCh38","chr16",28320274,28320274,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.628G>A","p.Gly210Ser","p.G210S","ENST00000341901","2024-04-04",25,12,13,26,null,null,"SBK1,missense_variant,p.G210S,ENST00000341901,NM_001024401.3,c.628G>A,MODERATE,,deleterious(0.01),probably_damaging(0.993),1;SBK1,missense_variant,p.G298S,ENST00000671413,,c.892G>A,MODERATE,YES,deleterious(0.04),benign(0.165),1","A","ENSG00000188322","ENST00000341901","Transcript","missense_variant","missense_variant","1411/4986","628/1275","210/424","G/S","Ggc/Agc","COSV59397411",null,1,"SBK1","HGNC","HGNC:17699","protein_coding",null,"CCDS32416.1","ENSP00000343248","Q52WX2.126",null,"UPI0000047D05",null,"NM_001024401.3","NM_001024401.3","P1",null,"deleterious(0.01)","probably_damaging(0.993)","2024-04-04",null,"Superfamily:SSF56112;SMART:SM00220;PIRSF:PIRSF000566;Gene3D:1.10.510.10;Pfam:PF00069;PANTHER:PTHR24359:SF0;PANTHER:PTHR24359;CDD:cd13987;PROSITE_profiles:PS50011",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TGAGCGGCACC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059755","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATXN2L",11273,"BI","GRCh38","chr16",28835170,28835170,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2551del","p.Gln851LysfsTer69","p.Q851Kfs*69","ENST00000336783","19/22",260,197,63,241,null,null,"ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000336783,NM_007245.3,c.2551del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000395547,NM_148414.2,c.2551del,HIGH,YES,,,1;ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000340394,NM_148415.2,c.2551del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000325215,NM_145714.2,c.2551del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000382686,NM_148416.2,c.2551del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q851Kfs*69,ENST00000570200,NM_017492.3,c.2551del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q857Kfs*69,ENST00000564304,NM_001308230.1,c.2569del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q176Kfs*70,ENST00000566946,,c.526del,HIGH,,,,1;ATXN2L,frameshift_variant,p.Q27Kfs*67,ENST00000569318,,c.77del,HIGH,,,,1;ATXN2L,upstream_gene_variant,,ENST00000564162,,,MODIFIER,,,,1;ATXN2L,upstream_gene_variant,,ENST00000566007,,,MODIFIER,,,,1;ATXN2L,upstream_gene_variant,,ENST00000567024,,,MODIFIER,,,,1;ATXN2L,downstream_gene_variant,,ENST00000568266,,,MODIFIER,,,,1;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,,n.738del,MODIFIER,,,,1;ATXN2L,downstream_gene_variant,,ENST00000570284,,,MODIFIER,,,,1;ATXN2L,frameshift_variant,p.Q176Kfs*69,ENST00000562583,,c.526del,HIGH,,,,1;ATXN2L,3_prime_UTR_variant,,ENST00000565971,,c.*961del,MODIFIER,,,,1;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,,n.2776del,MODIFIER,,,,1;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,,n.735del,MODIFIER,,,,1;ATXN2L,non_coding_transcript_exon_variant,,ENST00000561732,,n.393del,MODIFIER,,,,1;ATXN2L,non_coding_transcript_exon_variant,,ENST00000562686,,n.324del,MODIFIER,,,,1;ATXN2L,downstream_gene_variant,,ENST00000564284,,,MODIFIER,,,,1;AC133550.2,intron_variant,,ENST00000563565,,n.269+1762del,MODIFIER,YES,,,-1;AC009093.11,intron_variant,,ENST00000675058,,n.110+493632del,MODIFIER,YES,,,1","-","ENSG00000168488","ENST00000336783","Transcript","frameshift_variant","frameshift_variant","2713/4367","2546/3228","849/1075","T/X","aCc/ac",null,null,1,"ATXN2L","HGNC","HGNC:31326","protein_coding",null,"CCDS10641.1","ENSP00000338718","Q8WWM7.166",null,"UPI0000160B8E","Q8WWM7-1","NM_007245.3",null,"P3",{"$nulls":3},"19/22",null,"PANTHER:PTHR12854;PANTHER:PTHR12854:SF8;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",null,"deletion",1,5,null,null,"AGCCTACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1640449;COSM1640450","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SPNS1",83985,"BI","GRCh38","chr16",28982426,28982426,"+","Missense_Mutation","SNP","C","C","T","rs772584925",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1036C>T","p.Arg346Trp","p.R346W","ENST00000311008","2024-08-12",102,91,11,102,null,null,"SPNS1,missense_variant,p.R346W,ENST00000311008,NM_032038.3&NM_001142448.2,c.1036C>T,MODERATE,,tolerated(0.24),benign(0.005),1;SPNS1,missense_variant,p.R273W,ENST00000323081,NM_001142450.2,c.817C>T,MODERATE,,tolerated(0.2),benign(0.005),1;SPNS1,missense_variant,p.R294W,ENST00000334536,NM_001142451.2,c.880C>T,MODERATE,,tolerated(0.21),benign(0.003),1;SPNS1,missense_variant,p.R391W,ENST00000565975,,c.1171C>T,MODERATE,YES,tolerated(0.2),possibly_damaging(0.832),1;SPNS1,missense_variant,p.R272W,ENST00000352260,NM_001142449.2,c.814C>T,MODERATE,,tolerated(0.26),benign(0.013),1;SPNS1,missense_variant,p.R340W,ENST00000566059,,c.1018C>T,MODERATE,,tolerated(0.34),possibly_damaging(0.888),1;SPNS1,intron_variant,,ENST00000564476,,c.618-1360C>T,MODIFIER,,,,1;SPNS1,intron_variant,,ENST00000568829,,c.108-431C>T,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000354453,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000360872,NM_014387.4,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000395456,NM_001014987.2,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000395461,NM_001014989.2,,MODIFIER,YES,,,1;LAT,upstream_gene_variant,,ENST00000454369,NM_001014988.2,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000564277,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000566177,,,MODIFIER,,,,1;SPNS1,downstream_gene_variant,,ENST00000567771,,,MODIFIER,,,,1;SPNS1,downstream_gene_variant,,ENST00000568388,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000570232,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000630764,,,MODIFIER,,,,1;SPNS1,downstream_gene_variant,,ENST00000561868,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000563964,,,MODIFIER,,,,1;AC109460.3,non_coding_transcript_exon_variant,,ENST00000569969,,n.1885C>T,MODIFIER,YES,,,1;LAT,upstream_gene_variant,,ENST00000562472,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000562701,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000566270,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000568440,,,MODIFIER,,,,1;LAT,upstream_gene_variant,,ENST00000568899,,,MODIFIER,,,,1;SPNS1,downstream_gene_variant,,ENST00000568900,,,MODIFIER,,,,1;AC009093.11,intron_variant,,ENST00000675058,,n.111-373361C>T,MODIFIER,YES,,,1;AC109460.1,upstream_gene_variant,,ENST00000567209,,,MODIFIER,YES,,,-1","T","ENSG00000169682","ENST00000311008","Transcript","missense_variant","missense_variant","1410/2205","1036/1587","346/528","R/W","Cgg/Tgg","rs772584925;COSV57954801",null,1,"SPNS1","HGNC","HGNC:30621","protein_coding",null,"CCDS10646.1","ENSP00000309945","Q9H2V7.148",null,"UPI000004DB99","Q9H2V7-1","NM_032038.3;NM_001142448.2","NM_032038.3","P1",null,"tolerated(0.24)","benign(0.005)","2024-08-12",null,"Gene3D:1.20.1250.20;Pfam:PF07690;PROSITE_profiles:PS50850;PANTHER:PTHR23505;PANTHER:PTHR23505:SF13;Superfamily:SSF103473;CDD:cd17328",{"$nulls":8},"1.597e-05",0,"2.896e-05",0,1.088E-4,0,0,1.639E-4,0,1.639E-4,"gnomAD_OTH","2.0282899640733376e-05","2.4323799152625725e-05",0,0,0,2.01775997993536E-4,0,0,"1.5433999578817748e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCCGCCGGCTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4059915","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MVP",9961,"BI","GRCh38","chr16",29830579,29830579,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.35del","p.Pro12HisfsTer40","p.P12Hfs*40","ENST00000357402","2024-02-15",123,98,25,126,null,null,"MVP,frameshift_variant,p.P12Hfs*40,ENST00000395353,NM_017458.3,c.35del,HIGH,YES,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000357402,NM_005115.5&NM_001293204.1&NM_001293205.1,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000563915,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000570234,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000563558,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000566066,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*40,ENST00000566252,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*?,ENST00000565164,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*?,ENST00000629059,,c.35del,HIGH,,,,1;MVP,non_coding_transcript_exon_variant,,ENST00000566554,,n.697del,MODIFIER,,,,1;MVP,non_coding_transcript_exon_variant,,ENST00000565830,,n.145del,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000570061,,,MODIFIER,,,,1;MVP,frameshift_variant,p.P12Hfs*?,ENST00000566859,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*123,ENST00000569887,,c.35del,HIGH,,,,1;MVP,frameshift_variant,p.P12Hfs*51,ENST00000562463,,c.35del,HIGH,,,,1;AC120114.4,3_prime_UTR_variant,,ENST00000562285,,c.*259del,MODIFIER,YES,,,1;MVP,non_coding_transcript_exon_variant,,ENST00000563096,,n.156del,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000563123,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000569612,,,MODIFIER,,,,1","-","ENSG00000013364","ENST00000357402","Transcript","frameshift_variant","frameshift_variant","114/2798","30/2682","10/893","I/X","atC/at",null,null,1,"MVP","HGNC","HGNC:7531","protein_coding",null,"CCDS10656.1","ENSP00000349977","Q14764.184","X5D2M8.57","UPI000012FA9C",null,"NM_005115.5;NM_001293204.1;NM_001293205.1","NM_005115.5","P1",{"$nulls":3},"2024-02-15",null,"PROSITE_profiles:PS51224;PANTHER:PTHR14165;PANTHER:PTHR14165:SF3;Gene3D:2.30.30.570",{"$nulls":41},"HIGH",null,"deletion",1,5,null,null,"CCGCATCCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TAOK2",9344,"BI","GRCh38","chr16",29987527,29987527,"+","Nonsense_Mutation","SNP","G","G","A","rs1401327054",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3255G>A","p.Trp1085Ter","p.W1085*","ENST00000308893","16/16",106,71,34,104,null,null,"TAOK2,stop_gained,p.W1085*,ENST00000308893,NM_016151.4,c.3255G>A,HIGH,YES,,,1;TAOK2,stop_gained,p.W912*,ENST00000416441,,c.2736G>A,HIGH,,,,1;TAOK2,stop_gained,p.W972*,ENST00000543033,NM_001252043.2,c.2916G>A,HIGH,,,,1;TAOK2,intron_variant,,ENST00000279394,NM_004783.4,c.2232+1023G>A,MODIFIER,,,,1;HIRIP3,downstream_gene_variant,,ENST00000279392,NM_003609.5,,MODIFIER,YES,,,-1;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,,n.1928G>A,MODIFIER,,,,1;TAOK2,upstream_gene_variant,,ENST00000570844,,,MODIFIER,,,,1","A","ENSG00000149930","ENST00000308893","Transcript","stop_gained","stop_gained","4071/4937","3255/3708","1085/1235","W/*","tgG/tgA","rs1401327054;COSV54230592",null,1,"TAOK2","HGNC","HGNC:16835","protein_coding","YES","CCDS10663.1","ENSP00000310094","Q9UL54.176",null,"UPI000013EDDA","Q9UL54-1","NM_016151.4","NM_016151.4",{"$nulls":4},"16/16",null,"PANTHER:PTHR47167;PANTHER:PTHR47167:SF1;Low_complexity_(Seg):seg",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1",null,"CTCTGGTTGCG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4060051;COSM4060052","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["INO80E",283899,"BI","GRCh38","chr16",29996344,29996344,"+","Frame_Shift_Del","DEL","A","A","-","rs762875806",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.42del","p.Lys14AsnfsTer5","p.K14Nfs*5","ENST00000563197","2024-01-07",12,4,8,18,null,null,"INO80E,frameshift_variant,p.K14Nfs*5,ENST00000304516,NM_001304562.2,c.42del,HIGH,,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000563197,NM_173618.3,c.42del,HIGH,YES,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000567705,,c.42del,HIGH,,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000567254,NM_001304563.2,c.42del,HIGH,,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000620599,,c.42del,HIGH,,,,1;HIRIP3,upstream_gene_variant,,ENST00000279392,NM_003609.5,,MODIFIER,YES,,,-1;TAOK2,downstream_gene_variant,,ENST00000279394,NM_004783.4,,MODIFIER,,,,1;INO80E,upstream_gene_variant,,ENST00000562291,,,MODIFIER,,,,1;HIRIP3,upstream_gene_variant,,ENST00000564026,NM_001197323.1,,MODIFIER,,,,-1;INO80E,non_coding_transcript_exon_variant,,ENST00000563040,,n.101del,MODIFIER,,,,1;HIRIP3,upstream_gene_variant,,ENST00000566471,,,MODIFIER,,,,-1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000567987,,c.42del,HIGH,,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000562441,,c.42del,HIGH,,,,1;INO80E,frameshift_variant,p.K14Nfs*5,ENST00000567065,,c.42del,HIGH,,,,1;INO80E,non_coding_transcript_exon_variant,,ENST00000569957,,n.115del,MODIFIER,,,,1;INO80E,non_coding_transcript_exon_variant,,ENST00000540562,,n.79del,MODIFIER,,,,1;INO80E,non_coding_transcript_exon_variant,,ENST00000568043,,n.109del,MODIFIER,,,,1;INO80E,non_coding_transcript_exon_variant,,ENST00000380503,,n.135del,MODIFIER,,,,1;HIRIP3,upstream_gene_variant,,ENST00000563053,,,MODIFIER,,,,-1;HIRIP3,upstream_gene_variant,,ENST00000563680,,,MODIFIER,,,,-1;HIRIP3,upstream_gene_variant,,ENST00000565996,,,MODIFIER,,,,-1;HIRIP3,upstream_gene_variant,,ENST00000568880,,,MODIFIER,,,,-1;TAOK2,downstream_gene_variant,,ENST00000570844,,,MODIFIER,,,,1","-","ENSG00000169592","ENST00000563197","Transcript","frameshift_variant","frameshift_variant","104/1154","34/735","12/244","K/X","Aaa/aa","rs762875806",null,1,"INO80E","HGNC","HGNC:26905","protein_coding","YES","CCDS10665.1","ENSP00000457016","Q8NBZ0.128",null,"UPI000000DC3E","Q8NBZ0-1","NM_173618.3","NM_173618.3","P4",{"$nulls":3},"2024-01-07",null,"PANTHER:PTHR21812;Low_complexity_(Seg):seg",{"$nulls":6},0.01082,0.0112,0.001321,0.001674,0.001135,0.0003386,0.001148,0.0001668,1.92E-3,1.181E-3,0.0006617,0.0112,"EA",{"$nulls":22},"HIGH",1,"deletion",1,8,null,null,"GACTACAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1242380","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PRSS53",339105,"BI","GRCh38","chr16",31086167,31086167,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.680del","p.Pro227LeufsTer32","p.P227Lfs*32","ENST00000280606","2024-06-11",72,54,18,59,null,null,"PRSS53,frameshift_variant,p.P227Lfs*32,ENST00000280606,NM_001039503.2,c.680del,HIGH,YES,,,-1;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.4,,MODIFIER,YES,,,1;VKORC1,downstream_gene_variant,,ENST00000300851,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000319788,NM_001311311.1,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000354895,NM_206824.2,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000394971,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000394975,NM_024006.6,,MODIFIER,YES,,,-1;ZNF646,downstream_gene_variant,,ENST00000394979,,,MODIFIER,,,,1;VKORC1,downstream_gene_variant,,ENST00000420057,,,MODIFIER,,,,-1;AC135050.2,downstream_gene_variant,,ENST00000529564,,,MODIFIER,YES,,,-1;AC135050.2,downstream_gene_variant,,ENST00000532364,,,MODIFIER,,,,-1;AC135050.2,3_prime_UTR_variant,,ENST00000533518,,c.*664del,MODIFIER,,,,-1;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,,n.3462del,MODIFIER,,,,-1;PRSS53,non_coding_transcript_exon_variant,,ENST00000492427,,n.1630del,MODIFIER,,,,-1","-","ENSG00000151006","ENST00000280606","Transcript","frameshift_variant","frameshift_variant","834/2181","680/1662","227/553","P/X","cCt/ct",null,null,-1,"PRSS53","HGNC","HGNC:34407","protein_coding","YES","CCDS42153.1","ENSP00000280606","Q2L4Q9.101",null,"UPI000059D375",null,"NM_001039503.2",null,"P1",{"$nulls":3},"2024-06-11",null,"CDD:cd00190;Gene3D:2.40.10.10;Pfam:PF00089;Gene3D:2.40.10.10;SMART:SM00020;Superfamily:SSF50494;PROSITE_profiles:PS50240;PANTHER:PTHR24276:SF61;PANTHER:PTHR24276;PROSITE_patterns:PS00135;Prints:PR00722",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"AGCACAGGGCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KAT8",84148,"BI","GRCh38","chr16",31131221,31131221,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1344del","p.Lys449SerfsTer20","p.K449Sfs*20","ENST00000219797","2024-11-11",41,31,10,32,null,null,"KAT8,frameshift_variant,p.K449Sfs*20,ENST00000543774,,c.1344del,HIGH,,,,1;KAT8,frameshift_variant,p.K449Sfs*20,ENST00000219797,NM_032188.3,c.1344del,HIGH,,,,1;KAT8,3_prime_UTR_variant,,ENST00000448516,NM_182958.3,c.*234del,MODIFIER,YES,,,1;KAT8,3_prime_UTR_variant,,ENST00000537402,,c.*616del,MODIFIER,,,,1;PRSS8,downstream_gene_variant,,ENST00000317508,NM_002773.5,,MODIFIER,YES,,,-1;PRSS8,downstream_gene_variant,,ENST00000567531,,,MODIFIER,,,,-1;PRSS8,downstream_gene_variant,,ENST00000567797,,,MODIFIER,,,,-1;PRSS8,downstream_gene_variant,,ENST00000568261,,,MODIFIER,,,,-1;KAT8,non_coding_transcript_exon_variant,,ENST00000538768,,n.2333del,MODIFIER,,,,1;KAT8,non_coding_transcript_exon_variant,,ENST00000573144,,n.477del,MODIFIER,,,,1;PRSS8,downstream_gene_variant,,ENST00000564025,,,MODIFIER,,,,-1;PRSS8,downstream_gene_variant,,ENST00000567833,,,MODIFIER,,,,-1;AC009088.3,upstream_gene_variant,,ENST00000563605,,,MODIFIER,YES,,,1","-","ENSG00000103510","ENST00000219797","Transcript","frameshift_variant","frameshift_variant","1357/1495","1339/1377","447/458","P/X","Ccc/cc",null,null,1,"KAT8","HGNC","HGNC:17933","protein_coding",null,"CCDS10706.1","ENSP00000219797","Q9H7Z6.170",null,"UPI000004FA7B","Q9H7Z6-1","NM_032188.3","NM_032188.3","P1",{"$nulls":3},"2024-11-11",null,"PDB-ENSP_mappings:2giv.A;PDB-ENSP_mappings:2pq8.A;PDB-ENSP_mappings:2y0m.A;PDB-ENSP_mappings:3qah.A;PDB-ENSP_mappings:3toa.A;PDB-ENSP_mappings:3tob.A;PDB-ENSP_mappings:4dnc.A;PDB-ENSP_mappings:4dnc.B;PDB-ENSP_mappings:5j8c.A;PDB-ENSP_mappings:5j8f.A;PDB-ENSP_mappings:5wci.A;PDB-ENSP_mappings:6ba2.A;PDB-ENSP_mappings:6ba4.A;PDB-ENSP_mappings:6ct2.A;PDB-ENSP_mappings:6oin.A;PDB-ENSP_mappings:6oio.A;PDB-ENSP_mappings:6oip.A;PDB-ENSP_mappings:6oiq.A;PDB-ENSP_mappings:6oir.A;PDB-ENSP_mappings:6owh.A;PDB-ENSP_mappings:6owi.A;PDB-ENSP_mappings:6pd8.A;PDB-ENSP_mappings:6pd9.A;PDB-ENSP_mappings:6pda.A;PDB-ENSP_mappings:6pdb.A;PDB-ENSP_mappings:6pdc.A;PDB-ENSP_mappings:6pdd.A;PDB-ENSP_mappings:6pde.A;PDB-ENSP_mappings:6pdf.A;PDB-ENSP_mappings:6pdg.A;PROSITE_profiles:PS51726;PANTHER:PTHR10615;PANTHER:PTHR10615:SF82;Gene3D:3.40.630.30",{"$nulls":41},"HIGH",null,"deletion",1,5,null,null,"TGGGCACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM5363241","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ARMC5",79798,"BI","GRCh38","chr16",31462326,31462326,"+","Missense_Mutation","SNP","G","G","A","rs549433680",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.779G>A","p.Arg260His","p.R260H","ENST00000268314","2024-03-06",57,39,18,54,null,null,"ARMC5,missense_variant,p.R260H,ENST00000457010,NM_024742.2,c.779G>A,MODERATE,,deleterious(0),probably_damaging(0.982),1;ARMC5,missense_variant,p.R355H,ENST00000408912,NM_001288767.2,c.1064G>A,MODERATE,YES,deleterious(0),probably_damaging(0.981),1;ARMC5,missense_variant,p.R260H,ENST00000563544,NM_001301820.1,c.779G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;ARMC5,missense_variant,p.R260H,ENST00000268314,NM_001105247.2,c.779G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;ARMC5,intron_variant,,ENST00000564900,,c.212+131G>A,MODIFIER,,,,1;ARMC5,downstream_gene_variant,,ENST00000564514,,,MODIFIER,,,,1;ARMC5,upstream_gene_variant,,ENST00000570119,,,MODIFIER,,,,1;AC026471.1,upstream_gene_variant,,ENST00000564629,,,MODIFIER,YES,,,-1","A","ENSG00000140691","ENST00000268314","Transcript","missense_variant","missense_variant","803/3108","779/2808","260/935","R/H","cGt/cAt","rs549433680;COSV51657368",null,1,"ARMC5","HGNC","HGNC:25781","protein_coding",null,"CCDS45472.1","ENSP00000268314","Q96C12.144",null,"UPI0000F6E6C0","Q96C12-1","NM_001105247.2","NM_001105247.2","P4",null,"deleterious(0)","probably_damaging(0.998)","2024-03-06",null,"Gene3D:1.25.10.10;PANTHER:PTHR23312;SMART:SM00185;Superfamily:SSF48371;Low_complexity_(Seg):seg",0.0002,0,1.4E-3,0,0,0,null,null,"1.226e-05",0,"2.903e-05",0,0,0,"1.797e-05",0,0,1.4E-3,"AMR","4.056140096508898e-05",0,0,1.32625995320267E-4,0,0,0,0,"6.173220026539639e-05",0,0,1.32625995320267E-4,"amr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"CGTCCGTGCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4060488;COSM4060489","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IGHV3OR16-8",388255,"BI","GRCh38","chr16",33009610,33009610,"+","Nonsense_Mutation","SNP","T","T","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.339T>A","p.Tyr113Ter","p.Y113*","ENST00000565407","2024-02-02",230,161,68,263,null,null,"IGHV3OR16-8,stop_gained,p.Y113*,ENST00000565407,,c.339T>A,HIGH,YES,,,1;AC142086.5,intron_variant,,ENST00000567619,,n.499+17929A>T,MODIFIER,YES,,,-1","A","ENSG00000271130","ENST00000565407","Transcript","stop_gained","stop_gained","339/349","339/349","113/116","Y/*","taT/taA",null,null,1,"IGHV3OR16-8","HGNC","HGNC:5643","IG_V_gene","YES",null,"ENSP00000474964",null,"A0A075B7F1.33","UPI00033351ED",{"$nulls":3},"P1","cds_end_NF",null,null,"2024-02-02",{"$nulls":43},"HIGH",null,"SNV",{"$nulls":4},"GTGTATTACTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHD9",80205,"BI","GRCh38","chr16",53209546,53209546,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1517G>T","p.Arg506Met","p.R506M","ENST00000398510","2/38",41,35,6,39,null,null,"CHD9,missense_variant,p.R506M,ENST00000566029,NM_025134.7,c.1517G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.73),1;CHD9,missense_variant,p.R506M,ENST00000447540,NM_001308319.2,c.1517G>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.541),1;CHD9,missense_variant,p.R506M,ENST00000564845,NM_001352127.3&NM_001352158.3,c.1517G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.73),1;CHD9,missense_variant,p.R506M,ENST00000398510,NM_001382353.1&NM_001382355.1,c.1517G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.541),1;CHD9,missense_variant,p.R32M,ENST00000565803,NM_001352156.3&NM_001352157.3&NM_001382354.1,c.95G>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.935),1;CHD9,missense_variant,p.R506M,ENST00000565832,,c.1517G>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.541),1;CHD9,5_prime_UTR_variant,,ENST00000615216,,c.-3380G>T,MODIFIER,,,,1;CHD9,5_prime_UTR_variant,,ENST00000565442,,c.-5G>T,MODIFIER,,,,1;CHD9,splice_region_variant,,ENST00000569794,,n.376+5G>T,LOW,,,,1;CHD9,upstream_gene_variant,,ENST00000562791,,,MODIFIER,,,,1;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,,n.443G>T,MODIFIER,,,,1","T","ENSG00000177200","ENST00000398510","Transcript","missense_variant","missense_variant","1604/11337","1517/8694","506/2897","R/M","aGg/aTg","COSV68298616",null,1,"CHD9","HGNC","HGNC:25701","protein_coding",null,"CCDS76865.1","ENSP00000381522","Q3L8U1.149",null,"UPI0000E02AC8","Q3L8U1-1","NM_001382353.1;NM_001382355.1",null,"A2",null,"deleterious_low_confidence(0)","possibly_damaging(0.541)","2/38",null,"Coiled-coils_(Ncoils):Coil;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GGTGAGGGTCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4061194","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCTD19",146212,"BI","GRCh38","chr16",67291755,67291755,"+","Frame_Shift_Del","DEL","G","G","-","rs759860142",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.2301del","p.Val768TrpfsTer38","p.V768Wfs*38","ENST00000304372","13/16",77,59,18,61,null,null,"KCTD19,frameshift_variant,p.V768Wfs*38,ENST00000304372,NM_001100915.3,c.2301del,HIGH,YES,,,-1;KCTD19,intron_variant,,ENST00000562841,,c.280+1789del,MODIFIER,,,,-1;PLEKHG4,downstream_gene_variant,,ENST00000360461,NM_001129727.3,,MODIFIER,YES,,,1;PLEKHG4,downstream_gene_variant,,ENST00000379344,NM_001129729.3,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000427155,NM_001129728.1,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000450733,NM_001129731.3,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000569875,,,MODIFIER,,,,1;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,,n.4299del,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,,n.4133del,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,,n.3570del,MODIFIER,,,,-1;PLEKHG4,downstream_gene_variant,,ENST00000393966,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000562289,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000563969,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000567136,,,MODIFIER,,,,1","-","ENSG00000168676","ENST00000304372","Transcript","frameshift_variant","frameshift_variant","2335/2952","2301/2781","767/926","P/X","ccC/cc","rs759860142",null,-1,"KCTD19","HGNC","HGNC:24753","protein_coding","YES","CCDS42179.1","ENSP00000305702","Q17RG1.103",null,"UPI00001D7875",null,"NM_001100915.3","NM_001100915.3","P1",{"$nulls":3},"13/16",null,"PANTHER:PTHR14499;PANTHER:PTHR14499:SF20",{"$nulls":8},"1.204e-05","6.474e-05",0,0,"5.565e-05",0,0,0,"3.268e-05","6.474e-05","gnomAD_AFR","6.766079877706943e-06","2.4339200535905547e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"CACCACGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1378901","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PLA2G15",23659,"BI","GRCh38","chr16",68255314,68255314,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.436G>A","p.Val146Met","p.V146M","ENST00000219345","2024-04-06",59,33,26,66,null,null,"PLA2G15,missense_variant,p.V146M,ENST00000219345,NM_012320.4,c.436G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.837),1;PLA2G15,missense_variant,p.V146M,ENST00000566188,NM_001363551.2,c.436G>A,MODERATE,,deleterious(0),probably_damaging(0.944),1;PLA2G15,missense_variant,p.V146M,ENST00000568082,,c.436G>A,MODERATE,,deleterious(0),probably_damaging(0.955),1;PLA2G15,missense_variant,p.V178M,ENST00000564827,,c.532G>A,MODERATE,,deleterious(0),probably_damaging(0.981),1;PLA2G15,synonymous_variant,p.L93=,ENST00000413021,,c.279G>A,LOW,,,,1;PLA2G15,intron_variant,,ENST00000444212,,c.128-3832G>A,MODIFIER,,,,1;PLA2G15,intron_variant,,ENST00000565744,,c.403+277G>A,MODIFIER,,,,1;PLA2G15,non_coding_transcript_exon_variant,,ENST00000565460,,n.534G>A,MODIFIER,,,,1;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562449,,n.718G>A,MODIFIER,,,,1;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562966,,n.483G>A,MODIFIER,,,,1;PLA2G15,downstream_gene_variant,,ENST00000566978,,,MODIFIER,,,,1;AC020978.2,downstream_gene_variant,,ENST00000563175,,,MODIFIER,YES,,,-1;AC020978.2,downstream_gene_variant,,ENST00000569843,,,MODIFIER,,,,-1","A","ENSG00000103066","ENST00000219345","Transcript","missense_variant","missense_variant","490/2694","436/1239","146/412","V/M","Gtg/Atg","COSV54723520",null,1,"PLA2G15","HGNC","HGNC:17163","protein_coding","YES","CCDS10864.1","ENSP00000219345","Q8NCC3.158",null,"UPI00000359EF","Q8NCC3-1","NM_012320.4","NM_012320.4","P1",null,"deleterious(0)","possibly_damaging(0.837)","2024-04-06",null,"PDB-ENSP_mappings:4x90.A;PDB-ENSP_mappings:4x90.B;PDB-ENSP_mappings:4x90.C;PDB-ENSP_mappings:4x90.D;PDB-ENSP_mappings:4x91.A;PDB-ENSP_mappings:4x91.B;PDB-ENSP_mappings:4x91.C;PDB-ENSP_mappings:4x91.D;PDB-ENSP_mappings:4x92.A;PDB-ENSP_mappings:4x93.A;PDB-ENSP_mappings:4x93.B;PDB-ENSP_mappings:4x94.A;PDB-ENSP_mappings:4x95.A;PDB-ENSP_mappings:4x95.B;PDB-ENSP_mappings:4x97.A;PDB-ENSP_mappings:4x97.B;PDB-ENSP_mappings:4x97.C;PDB-ENSP_mappings:4x97.D;PDB-ENSP_mappings:6mtw.A;PDB-ENSP_mappings:6mtw.B;PANTHER:PTHR11440;PANTHER:PTHR11440:SF47;Pfam:PF02450;Superfamily:SSF53474",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCCTTGTGGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4062106","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADAMTS18",170692,"BI","GRCh38","chr16",77293077,77293077,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.3188A>G","p.Glu1063Gly","p.E1063G","ENST00000282849","20/23",117,80,37,110,null,null,"ADAMTS18,missense_variant,p.E1063G,ENST00000282849,NM_199355.4&NM_001326358.2,c.3188A>G,MODERATE,YES,deleterious(0),probably_damaging(0.988),-1;ADAMTS18,upstream_gene_variant,,ENST00000562332,,,MODIFIER,,,,-1;AC009139.1,intron_variant,,ENST00000648730,,n.117+3622T>C,MODIFIER,YES,,,1;AC009139.1,downstream_gene_variant,,ENST00000561672,,,MODIFIER,,,,1","C","ENSG00000140873","ENST00000282849","Transcript","missense_variant","missense_variant;splice_region_variant","3527/5833","3188/3666","1063/1221","E/G","gAg/gGg","COSV51417603",null,-1,"ADAMTS18","HGNC","HGNC:17110","protein_coding","YES","CCDS10926.1","ENSP00000282849","Q8TE60.162",null,"UPI0000233610","Q8TE60-1","NM_199355.4;NM_001326358.2","NM_199355.4","P1",null,"deleterious(0)","probably_damaging(0.988)","20/23",null,"PROSITE_profiles:PS50092;PANTHER:PTHR13723:SF167;PANTHER:PTHR13723;Gene3D:2.20.100.10;Pfam:PF19030;SMART:SM00209;Superfamily:SSF82895",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ATACCTCGCTC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4062969","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAAF1",123872,"BI","GRCh38","chr16",84150284,84150284,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.294G>C","p.Lys98Asn","p.K98N","ENST00000378553","2024-03-12",86,80,6,82,null,null,"DNAAF1,missense_variant,p.K98N,ENST00000378553,NM_178452.6,c.294G>C,MODERATE,YES,deleterious(0),probably_damaging(0.963),1;DNAAF1,missense_variant,p.K98N,ENST00000563093,,c.294G>C,MODERATE,,deleterious(0),probably_damaging(0.974),1;DNAAF1,missense_variant,p.K98N,ENST00000567918,,c.294G>C,MODERATE,,deleterious(0),probably_damaging(0.963),1;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,,n.448G>C,MODIFIER,,,,1","C","ENSG00000154099","ENST00000378553","Transcript","missense_variant","missense_variant","427/2388","294/2178","98/725","K/N","aaG/aaC","COSV57577712",null,1,"DNAAF1","HGNC","HGNC:30539","protein_coding","YES","CCDS10943.2","ENSP00000367815","Q8NEP3.149","A0A140VJN4.24","UPI000059D3C9","Q8NEP3-1","NM_178452.6","NM_178452.6","P1",null,"deleterious(0)","probably_damaging(0.963)","2024-03-12",null,"PANTHER:PTHR45973:SF9;PANTHER:PTHR45973;Gene3D:3.80.10.10",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGCAAGCAGCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4063259","N","Unknown",{"$nulls":3},"muse;mutect2"]
["GSE1",23199,"BI","GRCh38","chr16",85648683,85648684,"+","Frame_Shift_Ins","INS","-","-","CC","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.365_366dup","p.Val123ProfsTer3","p.V123Pfs*3","ENST00000253458","2024-03-16",94,76,17,118,null,null,"GSE1,frameshift_variant,p.V123Pfs*3,ENST00000253458,NM_014615.5,c.365_366dup,HIGH,YES,,,1;GSE1,frameshift_variant,p.V50Pfs*3,ENST00000393243,NM_001278184.3,c.146_147dup,HIGH,,,,1;GSE1,frameshift_variant,p.V19Pfs*3,ENST00000405402,NM_001134473.3,c.53_54dup,HIGH,,,,1;GSE1,frameshift_variant,p.V19Pfs*3,ENST00000411612,,c.53_54dup,HIGH,,,,1;GSE1,frameshift_variant,p.V60Pfs*3,ENST00000635906,,c.176_177dup,HIGH,,,,1","CC","ENSG00000131149","ENST00000253458","Transcript","frameshift_variant","frameshift_variant","428-429/7385","358-359/3654","120/1217","T/TX","acc/aCCcc",null,null,1,"GSE1","HGNC","HGNC:28979","protein_coding","YES","CCDS10952.1","ENSP00000253458","Q14687.133",null,"UPI0000185F04","Q14687-1","NM_014615.5","NM_014615.5","P4",{"$nulls":3},"2024-03-16",null,"Pfam:PF12540;PANTHER:PTHR17608;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"insertion",5,8,null,null,"CCAGCACCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SPG7",6687,"BI","GRCh38","chr16",89532478,89532478,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1145del","p.Arg382LeufsTer50","p.R382Lfs*50","ENST00000268704","2024-09-17",166,112,54,125,null,null,"SPG7,frameshift_variant,p.R253Lfs*50,ENST00000647079,,c.758del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000645063,NM_001363850.1,c.1166del,HIGH,YES,,,1;SPG7,frameshift_variant,p.R345Lfs*50,ENST00000646303,,c.1034del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000645818,NM_003119.4,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R382Lfs*50,ENST00000268704,,c.1145del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000644781,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R275Lfs*50,ENST00000644671,,c.823del,HIGH,,,,1;SPG7,frameshift_variant,p.R261Lfs*50,ENST00000647032,,c.781del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000643649,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000341316,NM_199367.3,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000643307,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R22Lfs*50,ENST00000567138,,c.63del,HIGH,,,,1;SPG7,intron_variant,,ENST00000645897,,c.987+1670del,MODIFIER,,,,1;SPG7,intron_variant,,ENST00000646445,,c.183-12170del,MODIFIER,,,,1;SPG7,intron_variant,,ENST00000646716,,c.377-12170del,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000566371,,,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000643496,,n.983del,MODIFIER,,,,1;SPG7,intron_variant,,ENST00000642436,,n.389-8466del,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000643178,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000644556,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000645842,,,MODIFIER,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000646930,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R382Lfs*50,ENST00000644498,,c.1145del,HIGH,,,,1;SPG7,frameshift_variant,p.R347Lfs*50,ENST00000642334,,c.1039del,HIGH,,,,1;SPG7,frameshift_variant,p.R302Lfs*50,ENST00000643954,,c.904del,HIGH,,,,1;SPG7,frameshift_variant,p.R284Lfs*50,ENST00000646399,,c.849del,HIGH,,,,1;SPG7,frameshift_variant,p.R363Lfs*50,ENST00000643105,,c.1086del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000646263,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000645042,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000646826,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000646531,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R389Lfs*50,ENST00000644210,,c.1166del,HIGH,,,,1;SPG7,frameshift_variant,p.R132Lfs*50,ENST00000645886,,c.393del,HIGH,,,,1;SPG7,frameshift_variant,p.R190Lfs*50,ENST00000644751,,c.568del,HIGH,,,,1;SPG7,frameshift_variant,p.R60Lfs*50,ENST00000566682,,c.179del,HIGH,,,,1;SPG7,frameshift_variant,p.R33Lfs*50,ENST00000645258,,c.97del,HIGH,,,,1;SPG7,frameshift_variant,p.V114Cfs*6,ENST00000643370,,c.340del,HIGH,,,,1;SPG7,3_prime_UTR_variant,,ENST00000644901,,c.*1119del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000643668,,c.*1460del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000645354,,c.*1174del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000647227,,c.*847del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000643345,,c.*690del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000646589,,c.*294del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000564409,,c.*676del,MODIFIER,,,,1;SPG7,3_prime_UTR_variant,,ENST00000642371,,c.*620del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000644748,,n.2597del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000644225,,n.1183del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000645977,,n.2284del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000644171,,n.1140del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000646958,,n.2211del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000642427,,n.566del,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000561945,,n.311del,MODIFIER,,,,1;SPG7,intron_variant,,ENST00000643724,,c.*497+1670del,MODIFIER,,,,1;SPG7,intron_variant,,ENST00000646454,,n.710+1521del,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000564047,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000642263,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000643734,,,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000643957,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000644044,,,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000645533,,,MODIFIER,,,,1","-","ENSG00000197912","ENST00000268704","Transcript","frameshift_variant","frameshift_variant","1153/3026","1145/2367","382/788","R/X","cGt/ct",null,null,1,"SPG7","HGNC","HGNC:11237","protein_coding",null,null,"ENSP00000268704",null,"A0A2U3TZH1.13","UPI000D1973D3",{"$nulls":3},"A2",{"$nulls":3},"2024-09-17",null,"CDD:cd00009;PANTHER:PTHR43655;PANTHER:PTHR43655:SF8;Pfam:PF00004;Gene3D:3.40.50.300;TIGRFAM:TIGR01241;SMART:SM00382;Superfamily:SSF52540",{"$nulls":41},"HIGH",null,"deletion",1,null,null,1,"CTGCCCGTGTGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PITPNA",5306,"BI","GRCh38","chr17",1538919,1538919,"+","Missense_Mutation","SNP","C","C","T","rs747074455",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.406G>A","p.Val136Met","p.V136M","ENST00000313486","2024-07-12",68,43,25,57,null,null,"PITPNA,missense_variant,p.V136M,ENST00000313486,NM_006224.4,c.406G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.999),-1;PITPNA,missense_variant,p.V136M,ENST00000539476,,c.406G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.899),-1;PITPNA,missense_variant,p.V63M,ENST00000576722,,c.187G>A,MODERATE,,tolerated(0.08),probably_damaging(0.999),-1;PITPNA,missense_variant,p.V94M,ENST00000574991,,c.280G>A,MODERATE,,tolerated(0.08),probably_damaging(0.915),-1;PITPNA,missense_variant,p.V63M,ENST00000575895,,c.187G>A,MODERATE,,tolerated(0.09),probably_damaging(0.999),-1;PITPNA,missense_variant,p.V34M,ENST00000576761,,c.100G>A,MODERATE,,tolerated(0.09),probably_damaging(0.999),-1;PITPNA,missense_variant,p.V63M,ENST00000576010,,c.187G>A,MODERATE,,tolerated(0.08),probably_damaging(0.999),-1;PITPNA,downstream_gene_variant,,ENST00000573056,,,MODIFIER,,,,-1;PITPNA,downstream_gene_variant,,ENST00000573231,,,MODIFIER,,,,-1;PITPNA,3_prime_UTR_variant,,ENST00000575288,,c.*26G>A,MODIFIER,,,,-1;PITPNA,non_coding_transcript_exon_variant,,ENST00000572004,,n.68G>A,MODIFIER,,,,-1","T","ENSG00000174238","ENST00000313486","Transcript","missense_variant","missense_variant","638/3888","406/813","136/270","V/M","Gtg/Atg","rs747074455;COSV57932487",null,-1,"PITPNA","HGNC","HGNC:9001","protein_coding","YES","CCDS45563.1","ENSP00000316809","Q00169.182","V9HWC5.41","UPI000000DAD0",null,"NM_006224.4","NM_006224.4","P3",null,"tolerated(0.07)","probably_damaging(0.999)","2024-07-12",null,"PDB-ENSP_mappings:1uw5.A;PDB-ENSP_mappings:1uw5.B;PDB-ENSP_mappings:1uw5.C;PDB-ENSP_mappings:1uw5.D;Gene3D:3.30.530.20;Pfam:PF02121;PANTHER:PTHR10658;PANTHER:PTHR10658:SF28;Superfamily:SSF55961;CDD:cd08888",{"$nulls":8},"2.408e-05","6.458e-05",0,0,0,0,"4.425e-05",0,0,"6.458e-05","gnomAD_AFR","2.703360041778069e-05","4.861920024268329e-05",0,0,0,0,0,0,"3.085749995079823e-05",0,0,"4.861920024268329e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"TTCCACGTGTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4906486;COSM75944","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EFNB3",1949,"BI","GRCh38","chr17",7709384,7709384,"+","Frame_Shift_Del","DEL","G","G","-","rs1241382696",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.836del","p.Gly279ValfsTer15","p.G279Vfs*15","ENST00000226091","2024-05-05",26,21,4,25,null,null,"EFNB3,frameshift_variant,p.G279Vfs*15,ENST00000226091,NM_001406.4,c.836del,HIGH,YES,,,1","-","ENSG00000108947","ENST00000226091","Transcript","frameshift_variant","frameshift_variant","1228/3216","831/1023","277/340","L/X","ctG/ct","rs1241382696",null,1,"EFNB3","HGNC","HGNC:3228","protein_coding","YES","CCDS11120.1","ENSP00000226091","Q15768.175",null,"UPI000000DA07",null,"NM_001406.4","NM_001406.4","P1",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR11304;PANTHER:PTHR11304:SF34;Low_complexity_(Seg):seg",{"$nulls":8},"1.803e-05",0,"3.19e-05",1.239E-4,0,"5.179e-05","1.011e-05",0,0,1.239E-4,"gnomAD_ASJ",{"$nulls":22},"HIGH",1,"deletion",1,5,null,null,"GGGCCTGGGGGG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1386971","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["ARHGEF15",22899,"BI","GRCh38","chr17",8315837,8315837,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1504G>T","p.Gly502Trp","p.G502W","ENST00000361926","2024-08-16",84,65,18,84,null,null,"ARHGEF15,missense_variant,p.G502W,ENST00000361926,NM_173728.4,c.1504G>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;ARHGEF15,missense_variant,p.G502W,ENST00000421050,NM_025014.1,c.1504G>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;ARHGEF15,missense_variant,p.G323W,ENST00000647883,,c.967G>T,MODERATE,,deleterious(0),probably_damaging(1),1;ARHGEF15,downstream_gene_variant,,ENST00000579439,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000583529,,,MODIFIER,,,,1;ARHGEF15,upstream_gene_variant,,ENST00000582060,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000455564,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000578286,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000581809,,,MODIFIER,,,,1;AC135178.2,downstream_gene_variant,,ENST00000458568,,,MODIFIER,YES,,,-1","T","ENSG00000198844","ENST00000361926","Transcript","missense_variant","missense_variant","1656/4196","1504/2526","502/841","G/W","Ggg/Tgg","COSV62725557",null,1,"ARHGEF15","HGNC","HGNC:15590","protein_coding","YES","CCDS11139.1","ENSP00000355026","O94989.155","A0A0S2Z547.26","UPI000013D2C0",null,"NM_173728.4","NM_173728.4","P1",null,"deleterious(0)","probably_damaging(0.993)","2024-08-16",null,"Gene3D:1.20.900.10;Pfam:PF00621;PROSITE_profiles:PS50010;PANTHER:PTHR12845;PANTHER:PTHR12845:SF7;SMART:SM00325;Superfamily:SSF48065;CDD:cd00160",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGTGGGGCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4071009","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYH4",4622,"BI","GRCh38","chr17",10443393,10443393,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5802A>T","p.Lys1934Asn","p.K1934N","ENST00000255381","40/40",162,107,55,146,null,null,"MYH4,missense_variant,p.K1934N,ENST00000255381,NM_017533.2,c.5802A>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.066),-1;AC005323.2,intron_variant,,ENST00000399342,,n.206+37116T>A,MODIFIER,YES,,,1;AC005323.2,intron_variant,,ENST00000581304,,n.143+37155T>A,MODIFIER,,,,1;MYHAS,intron_variant,,ENST00000587182,,n.155+37155T>A,MODIFIER,YES,,,1","A","ENSG00000264424","ENST00000255381","Transcript","missense_variant","missense_variant","5913/6016","5802/5820","1934/1939","K/N","aaA/aaT","COSV55120141",null,-1,"MYH4","HGNC","HGNC:7574","protein_coding","YES","CCDS11154.1","ENSP00000255381","Q9Y623.171",null,"UPI000013CEAB",null,"NM_017533.2","NM_017533.2","P1",null,"deleterious_low_confidence(0)","benign(0.066)","40/40",null,"PANTHER:PTHR45615;PANTHER:PTHR45615:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGACTTTTGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4063813","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYH3",4621,"BI","GRCh38","chr17",10629665,10629665,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5728C>T","p.Arg1910Cys","p.R1910C","ENST00000583535","40/41",90,57,33,86,null,null,"MYH3,missense_variant,p.R1910C,ENST00000583535,NM_002470.4,c.5728C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;MYH3,non_coding_transcript_exon_variant,,ENST00000577963,,n.270C>T,MODIFIER,,,,-1;MYH3,non_coding_transcript_exon_variant,,ENST00000579928,,n.258C>T,MODIFIER,,,,-1","A","ENSG00000109063","ENST00000583535","Transcript","missense_variant","missense_variant","5816/6032","5728/5823","1910/1940","R/C","Cgt/Tgt","COSV56866330",null,-1,"MYH3","HGNC","HGNC:7573","protein_coding","YES","CCDS11157.1","ENSP00000464317","P11055.193",null,"UPI000013C892",null,"NM_002470.4","NM_002470.4","P1",null,"deleterious(0)","probably_damaging(1)","40/41",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF01576;PANTHER:PTHR45615;PANTHER:PTHR45615:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CGCACGTTCCT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4063882","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF287",57336,"BI","GRCh38","chr17",16563731,16563731,"+","Missense_Mutation","SNP","G","G","A","rs770221561",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.596C>T","p.Thr199Met","p.T199M","ENST00000395824","2024-04-06",89,62,26,93,null,null,"ZNF287,missense_variant,p.T199M,ENST00000395825,NM_020653.4&NM_001346170.1&NM_001346171.1&NM_001346168.1&NM_001346169.1&NM_001346167.1,c.596C>T,MODERATE,YES,tolerated(0.48),probably_damaging(0.999),-1;ZNF287,missense_variant,p.T199M,ENST00000395824,,c.596C>T,MODERATE,,tolerated(0.48),probably_damaging(0.999),-1;ZNF287,downstream_gene_variant,,ENST00000448349,,,MODIFIER,,,,-1;ZNF287,downstream_gene_variant,,ENST00000461555,,,MODIFIER,,,,-1;ZNF287,downstream_gene_variant,,ENST00000578303,,,MODIFIER,,,,-1;ZNF287,upstream_gene_variant,,ENST00000498796,,,MODIFIER,,,,-1;AC127540.1,upstream_gene_variant,,ENST00000580311,,,MODIFIER,YES,,,-1","A","ENSG00000141040","ENST00000395824","Transcript","missense_variant","missense_variant","1214/3373","596/2286","199/761","T/M","aCg/aTg","rs770221561;COSV67688069",null,-1,"ZNF287","HGNC","HGNC:13502","protein_coding",null,"CCDS11179.2","ENSP00000379168","Q9HBT7.163",null,"UPI0000200A57",{"$nulls":3},"P1",null,"tolerated(0.48)","probably_damaging(0.999)","2024-04-06",null,"Pfam:PF01352;PROSITE_profiles:PS50805;PANTHER:PTHR23226;PANTHER:PTHR23226:SF194;SMART:SM00349;Superfamily:SSF109640;CDD:cd07765",{"$nulls":8},"3.981e-05","6.159e-05",0,0,0,0,"4.399e-05",0.0001632,"9.814e-05",0.0001632,"gnomAD_OTH","2.704379949136637e-05","7.296429976122454e-05",0,0,0,0,0,0,"1.5431100109708495e-05",0,0,"7.296429976122454e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GTAACGTCACA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2739532","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPECC1",92521,"BI","GRCh38","chr17",20096655,20096655,"+","Missense_Mutation","SNP","C","C","T","rs763091276",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4C>T","p.Arg2Trp","p.R2W","ENST00000261503","2024-02-15",151,111,40,172,null,null,"SPECC1,missense_variant,p.R2W,ENST00000676570,,c.4C>T,MODERATE,,deleterious(0),possibly_damaging(0.859),1;SPECC1,missense_variant,p.R2W,ENST00000679049,,c.4C>T,MODERATE,,deleterious(0),possibly_damaging(0.859),1;SPECC1,missense_variant,p.R2W,ENST00000395529,NM_152904.4,c.4C>T,MODERATE,,deleterious(0),possibly_damaging(0.859),1;SPECC1,missense_variant,p.R2W,ENST00000679048,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000678019,,c.4C>T,MODERATE,,deleterious(0),probably_damaging(0.957),1;SPECC1,missense_variant,p.R2W,ENST00000677148,,c.4C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.982),1;SPECC1,missense_variant,p.R2W,ENST00000679255,,c.4C>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000677914,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000679058,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000261503,NM_001033553.2,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000678321,,c.4C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.957),1;SPECC1,missense_variant,p.R2W,ENST00000395527,NM_001243439.2,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000583463,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000578321,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000581973,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000583482,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000580934,,c.4C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.619),1;SPECC1,missense_variant,p.R2W,ENST00000583528,,c.4C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;SPECC1,intron_variant,,ENST00000472876,,c.-118+87231C>T,MODIFIER,,,,1;SPECC1,intron_variant,,ENST00000678651,,n.555+87231C>T,MODIFIER,,,,1;SPECC1,missense_variant,p.R2W,ENST00000678315,,c.4C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.957),1;SPECC1,missense_variant,p.R2W,ENST00000467722,,c.4C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.973),1","T","ENSG00000128487","ENST00000261503","Transcript","missense_variant","missense_variant","55/3948","4/3207","2/1068","R/W","Cgg/Tgg","rs763091276;COSV54960001",null,1,"SPECC1","HGNC","HGNC:30615","protein_coding",null,"CCDS32590.1","ENSP00000261503","Q5M775.131","A0A024QYY9.49","UPI000020187D","Q5M775-1","NM_001033553.2",null,"P3",null,"deleterious_low_confidence(0)","possibly_damaging(0.619)","2024-02-15",null,"MobiDB_lite:mobidb-lite",{"$nulls":8},"8.004e-06",0,0,0,0,0,"1.769e-05",0,0,"1.769e-05","gnomAD_NFE","2.7032900106860325e-05",0,0,0,0,0,"9.416200191481039e-05",0,"3.085469870711677e-05",0,2.08333003683947E-4,"3.085469870711677e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GCATGCGGAGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4064701","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPECC1",92521,"BI","GRCh38","chr17",20110536,20110536,"+","Missense_Mutation","SNP","C","C","T","rs764238558",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.257C>T","p.Thr86Met","p.T86M","ENST00000261503","2024-03-15",46,32,14,52,null,null,"SPECC1,missense_variant,p.T86M,ENST00000676570,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.337),1;SPECC1,missense_variant,p.T86M,ENST00000679049,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.337),1;SPECC1,missense_variant,p.T86M,ENST00000395529,NM_152904.4,c.257C>T,MODERATE,,deleterious(0.01),benign(0.337),1;SPECC1,missense_variant,p.T86M,ENST00000679048,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.176),1;SPECC1,missense_variant,p.T86M,ENST00000678019,,c.257C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.66),1;SPECC1,missense_variant,p.T86M,ENST00000677148,,c.257C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.501),1;SPECC1,missense_variant,p.T86M,ENST00000679255,,c.257C>T,MODERATE,YES,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000677914,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000679058,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000261503,NM_001033553.2,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000678321,,c.257C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.66),1;SPECC1,missense_variant,p.T86M,ENST00000395527,NM_001243439.2,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000583463,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000578321,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000581973,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000583482,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000580934,,c.257C>T,MODERATE,,deleterious(0.01),benign(0.054),1;SPECC1,missense_variant,p.T86M,ENST00000583528,,c.257C>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.992),1;SPECC1,intron_variant,,ENST00000472876,,c.-118+101112C>T,MODIFIER,,,,1;SPECC1,intron_variant,,ENST00000678651,,n.556-93797C>T,MODIFIER,,,,1;SPECC1,missense_variant,p.T86M,ENST00000678315,,c.257C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.765),1;SPECC1,missense_variant,p.T86M,ENST00000467722,,c.257C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.888),1;KCTD9P1,upstream_gene_variant,,ENST00000430462,,,MODIFIER,YES,,,1","T","ENSG00000128487","ENST00000261503","Transcript","missense_variant","missense_variant","308/3948","257/3207","86/1068","T/M","aCg/aTg","rs764238558;COSV54960010",null,1,"SPECC1","HGNC","HGNC:30615","protein_coding",null,"CCDS32590.1","ENSP00000261503","Q5M775.131","A0A024QYY9.49","UPI000020187D","Q5M775-1","NM_001033553.2",null,"P3",null,"deleterious(0.01)","benign(0.054)","2024-03-15",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"2.398e-05",0,1.158E-4,0,0,0,"1.772e-05",0,0,1.158E-4,"gnomAD_AMR","1.35235995912808e-05",0,0,0,0,0,0,0,"3.0855600925860927e-05",0,0,"3.0855600925860927e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GCTCACGGAGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4064703","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAP2K3",5606,"BI","GRCh38","chr17",21300621,21300621,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.242T>C","p.Val81Ala","p.V81A","ENST00000342679","2024-04-12",20,12,8,24,null,null,"MAP2K3,missense_variant,p.V81A,ENST00000342679,NM_145109.3,c.242T>C,MODERATE,YES,deleterious(0),possibly_damaging(0.503),1;MAP2K3,missense_variant,p.V52A,ENST00000361818,NM_002756.4,c.155T>C,MODERATE,,deleterious(0),possibly_damaging(0.503),1;MAP2K3,missense_variant,p.V52A,ENST00000613338,,c.155T>C,MODERATE,,deleterious(0),possibly_damaging(0.503),1;MAP2K3,missense_variant,p.V52A,ENST00000316920,NM_001316332.2,c.155T>C,MODERATE,,deleterious(0),possibly_damaging(0.503),1;MAP2K3,missense_variant,p.V52A,ENST00000526076,,c.155T>C,MODERATE,,deleterious(0),possibly_damaging(0.503),1;MAP2K3,downstream_gene_variant,,ENST00000529517,,,MODIFIER,,,,1;MAP2K3,downstream_gene_variant,,ENST00000627447,,,MODIFIER,,,,1;MAP2K3,missense_variant,p.V81A,ENST00000496046,,c.242T>C,MODERATE,,deleterious(0),possibly_damaging(0.884),1;MAP2K3,3_prime_UTR_variant,,ENST00000395491,,c.*226T>C,MODIFIER,,,,1;MAP2K3,3_prime_UTR_variant,,ENST00000479129,,c.*196T>C,MODIFIER,,,,1;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,,n.526T>C,MODIFIER,,,,1;MAP2K3,downstream_gene_variant,,ENST00000483928,,,MODIFIER,,,,1","C","ENSG00000034152","ENST00000342679","Transcript","missense_variant","missense_variant","452/2256","242/1044","81/347","V/A","gTg/gCg","COSV57569635",null,1,"MAP2K3","HGNC","HGNC:6843","protein_coding","YES","CCDS11217.1","ENSP00000345083","P46734.205","Q6FI23.129","UPI000012F48C","P46734-1","NM_145109.3","NM_145109.3","P1",null,"deleterious(0)","possibly_damaging(0.503)","2024-04-12",null,"Gene3D:3.30.200.20;Pfam:PF00069;PROSITE_patterns:PS00107;PROSITE_profiles:PS50011;PANTHER:PTHR44305;PANTHER:PTHR44305:SF7;SMART:SM00220;Superfamily:SSF56112;CDD:cd06617",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAAGGTGCGGC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4064740;COSM4064741","N","Unknown",{"$nulls":3},"muse;varscan2"]
["SUPT6H",6830,"BI","GRCh38","chr17",28701570,28701570,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.5130del","p.Met1711CysfsTer51","p.M1711Cfs*51","ENST00000314616","37/37",121,93,28,119,null,null,"SUPT6H,frameshift_variant,p.M1711Cfs*51,ENST00000314616,NM_003170.5,c.5130del,HIGH,YES,,,1;SUPT6H,frameshift_variant,p.M1711Cfs*51,ENST00000347486,NM_001320755.2,c.5130del,HIGH,,,,1;PROCA1,downstream_gene_variant,,ENST00000301039,NM_152465.3&NM_001304953.2&NM_001304949.2,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000415329,NM_001366303.1,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000439862,NM_001366301.1&NM_001304952.2,,MODIFIER,YES,,,-1;PROCA1,downstream_gene_variant,,ENST00000581289,NM_001304951.2,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000422880,,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000578097,,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000579650,NM_001304954.2,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000584073,,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000674362,,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000473751,,,MODIFIER,,,,-1;PROCA1,downstream_gene_variant,,ENST00000495203,,,MODIFIER,,,,-1;SUPT6H,downstream_gene_variant,,ENST00000580471,,,MODIFIER,,,,1;SUPT6H,downstream_gene_variant,,ENST00000581510,,,MODIFIER,,,,1;SUPT6H,downstream_gene_variant,,ENST00000583340,,,MODIFIER,,,,1","-","ENSG00000109111","ENST00000314616","Transcript","frameshift_variant","frameshift_variant","5295/6404","5126/5181","1709/1726","T/X","aCc/ac",null,null,1,"SUPT6H","HGNC","HGNC:11470","protein_coding","YES","CCDS32596.1","ENSP00000319104","Q7KZ85.165",null,"UPI000015FFA7","Q7KZ85-1","NM_003170.5","NM_003170.5","P1",{"$nulls":3},"37/37",null,"PDB-ENSP_mappings:6gmh.M;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"AAAGCACCCCCA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZNF207",7756,"BI","GRCh38","chr17",32360604,32360604,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.314A>G","p.Gln105Arg","p.Q105R","ENST00000321233","2024-04-11",52,37,14,47,null,null,"ZNF207,missense_variant,p.Q105R,ENST00000394670,NM_001098507.2,c.314A>G,MODERATE,,tolerated(0.06),benign(0.034),1;ZNF207,missense_variant,p.Q105R,ENST00000577908,,c.314A>G,MODERATE,,tolerated(0.06),benign(0.034),1;ZNF207,missense_variant,p.Q105R,ENST00000321233,NM_003457.3,c.314A>G,MODERATE,,tolerated(0.09),benign(0.034),1;ZNF207,missense_variant,p.Q105R,ENST00000394673,NM_001032293.2,c.314A>G,MODERATE,,tolerated(0.07),benign(0.034),1;ZNF207,missense_variant,p.Q108R,ENST00000342555,,c.323A>G,MODERATE,YES,tolerated(0.06),benign(0.069),1;ZNF207,missense_variant,p.Q51R,ENST00000394679,,c.152A>G,MODERATE,,deleterious(0.03),benign(0.034),1;ZNF207,missense_variant,p.Q51R,ENST00000582165,,c.152A>G,MODERATE,,tolerated(0.08),benign(0.034),1;ZNF207,missense_variant,p.Q51R,ENST00000579634,,c.152A>G,MODERATE,,tolerated(0.08),benign(0.034),1;ZNF207,missense_variant,p.Q51R,ENST00000580759,,c.152A>G,MODERATE,,deleterious(0.04),benign(0.034),1;ZNF207,downstream_gene_variant,,ENST00000578918,,,MODIFIER,,,,1;ZNF207,non_coding_transcript_exon_variant,,ENST00000577324,,n.402A>G,MODIFIER,,,,1;ZNF207,upstream_gene_variant,,ENST00000579416,,,MODIFIER,,,,1;ZNF207,upstream_gene_variant,,ENST00000581531,,,MODIFIER,,,,1;ZNF207,upstream_gene_variant,,ENST00000582705,,,MODIFIER,,,,1;AC005899.4,non_coding_transcript_exon_variant,,ENST00000581915,,n.418A>G,MODIFIER,YES,,,1;AC005899.4,non_coding_transcript_exon_variant,,ENST00000578389,,n.368A>G,MODIFIER,,,,1","G","ENSG00000010244","ENST00000321233","Transcript","missense_variant","missense_variant","468/2283","314/1437","105/478","Q/R","cAa/cGa","COSV58300448;COSV58302045",null,1,"ZNF207","HGNC","HGNC:12998","protein_coding",null,"CCDS11271.1","ENSP00000322777","O43670.176",null,"UPI000013C31B","O43670-1","NM_003457.3",null,"A2",null,"tolerated(0.09)","benign(0.034)","2024-04-11",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR23215;PANTHER:PTHR23215:SF1;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"AAGTCAAAAAA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4065408","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO1D",4642,"BI","GRCh38","chr17",32721177,32721177,"+","Missense_Mutation","SNP","C","C","T","rs143604215",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1759G>A","p.Val587Ile","p.V587I","ENST00000318217","15/22",184,127,57,206,null,null,"MYO1D,missense_variant,p.V587I,ENST00000318217,NM_015194.3,c.1759G>A,MODERATE,YES,tolerated(0.25),possibly_damaging(0.591),-1;MYO1D,missense_variant,p.V499I,ENST00000394649,,c.1495G>A,MODERATE,,tolerated(0.22),possibly_damaging(0.591),-1;MYO1D,missense_variant,p.V587I,ENST00000579584,NM_001303279.2,c.1759G>A,MODERATE,,tolerated(0.25),benign(0.327),-1;MYO1D,3_prime_UTR_variant,,ENST00000577252,,c.*352G>A,MODIFIER,,,,-1;MYO1D,non_coding_transcript_exon_variant,,ENST00000580538,,n.520G>A,MODIFIER,,,,-1;MYO1D,upstream_gene_variant,,ENST00000585094,,,MODIFIER,,,,-1","T","ENSG00000176658","ENST00000318217","Transcript","missense_variant","missense_variant","2011/5510","1759/3021","587/1006","V/I","Gtt/Att","rs143604215",null,-1,"MYO1D","HGNC","HGNC:7598","protein_coding","YES","CCDS32615.1","ENSP00000324527","O94832.173",null,"UPI0000186004",null,"NM_015194.3","NM_015194.3","P1",null,"tolerated(0.25)","possibly_damaging(0.591)","15/22",null,"Gene3D:3.40.850.10;Pfam:PF00063;PROSITE_profiles:PS51456;PANTHER:PTHR13140;PANTHER:PTHR13140:SF417;SMART:SM00242;Superfamily:SSF52540;CDD:cd01378",{"$nulls":6},0.000227,0,"1.198e-05","6.166e-05",0,0,0,0,"1.764e-05",0,0,0.000227,"AA","1.3527999726647977e-05","4.866889867116697e-05",0,0,0,0,0,0,0,0,0,"4.866889867116697e-05","afr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"ACGAACGTAAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4065429","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLFN5",162394,"BI","GRCh38","chr17",35264277,35264277,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1233G>A","p.Met411Ile","p.M411I","ENST00000299977","2024-04-05",108,87,21,100,null,null,"SLFN5,missense_variant,p.M411I,ENST00000299977,NM_144975.4,c.1233G>A,MODERATE,YES,tolerated(0.28),benign(0.003),1;SLFN5,intron_variant,,ENST00000542451,NM_001330183.2,c.1139-795G>A,MODIFIER,,,,1;SLFN5,downstream_gene_variant,,ENST00000592325,,,MODIFIER,,,,1","A","ENSG00000166750","ENST00000299977","Transcript","missense_variant","missense_variant","1345/10555","1233/2676","411/891","M/I","atG/atA","COSV55481708",null,1,"SLFN5","HGNC","HGNC:28286","protein_coding","YES","CCDS32619.1","ENSP00000299977","Q08AF3.110",null,"UPI0000237686","Q08AF3-1","NM_144975.4","NM_144975.4","P1",null,"tolerated(0.28)","benign(0.003)","2024-04-05",null,"PANTHER:PTHR12155;PANTHER:PTHR12155:SF26",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAAATGCGCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4065563","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR179",440435,"BI","GRCh38","chr17",38326617,38326617,"+","Missense_Mutation","SNP","G","G","T","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.6955C>A","p.Leu2319Ile","p.L2319I","ENST00000621958","2024-11-11",233,160,73,243,null,null,"GPR179,missense_variant,p.L2318I,ENST00000616987,NM_001004334.4,c.6952C>A,MODERATE,,tolerated_low_confidence(0.23),possibly_damaging(0.662),-1;GPR179,missense_variant,p.L2319I,ENST00000621958,,c.6955C>A,MODERATE,YES,tolerated_low_confidence(0.23),possibly_damaging(0.662),-1;MRPL45,downstream_gene_variant,,ENST00000613675,NM_032351.6,,MODIFIER,YES,,,1;MRPL45,downstream_gene_variant,,ENST00000619548,NM_001278279.2,,MODIFIER,,,,1;GPR179,intron_variant,,ENST00000622573,,n.135-924C>A,MODIFIER,,,,-1","T","ENSG00000277399","ENST00000621958","Transcript","missense_variant","missense_variant","6976/7983","6955/7107","2319/2368","L/I","Ctt/Att",null,null,-1,"GPR179","HGNC","HGNC:31371","protein_coding","YES",null,"ENSP00000480024",null,"A0A087WW83.34","UPI0004E4CA84",{"$nulls":3},"A2",null,"tolerated_low_confidence(0.23)","possibly_damaging(0.662)","2024-11-11",null,"PANTHER:PTHR32546;PANTHER:PTHR32546:SF7;MobiDB_lite:mobidb-lite",{"$nulls":41},"MODERATE",null,"SNV",5,null,null,1,"CTCAAGCCCTG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR179",440435,"BI","GRCh38","chr17",38329083,38329083,"+","Missense_Mutation","SNP","C","C","A","novel",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.4489G>T","p.Gly1497Trp","p.G1497W","ENST00000621958","2024-11-11",181,115,66,216,null,null,"GPR179,missense_variant,p.G1496W,ENST00000616987,NM_001004334.4,c.4486G>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;GPR179,missense_variant,p.G1497W,ENST00000621958,,c.4489G>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;GPR179,upstream_gene_variant,,ENST00000622573,,,MODIFIER,,,,-1","A","ENSG00000277399","ENST00000621958","Transcript","missense_variant","missense_variant","4510/7983","4489/7107","1497/2368","G/W","Ggg/Tgg",null,null,-1,"GPR179","HGNC","HGNC:31371","protein_coding","YES",null,"ENSP00000480024",null,"A0A087WW83.34","UPI0004E4CA84",{"$nulls":3},"A2",null,"deleterious(0)","probably_damaging(0.996)","2024-11-11",null,"PANTHER:PTHR32546;PANTHER:PTHR32546:SF7",{"$nulls":41},"MODERATE",1,"SNV",5,null,null,1,"TGTCCCCAGAC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLCD3",113026,"BI","GRCh38","chr17",45118986,45118986,"+","Missense_Mutation","SNP","G","G","A","rs747519089",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.742C>T","p.Arg248Trp","p.R248W","ENST00000619929","2024-05-15",26,22,4,34,null,null,"PLCD3,missense_variant,p.R248W,ENST00000619929,NM_133373.5,c.742C>T,MODERATE,YES,deleterious(0),probably_damaging(0.936),-1;PLCD3,downstream_gene_variant,,ENST00000538093,,,MODIFIER,,,,-1;PLCD3,downstream_gene_variant,,ENST00000590644,,,MODIFIER,,,,-1;MIR6784,upstream_gene_variant,,ENST00000611997,,,MODIFIER,YES,,,-1;PLCD3,non_coding_transcript_exon_variant,,ENST00000538988,,n.27C>T,MODIFIER,,,,-1;PLCD3,upstream_gene_variant,,ENST00000543623,,,MODIFIER,,,,-1;PLCD3,downstream_gene_variant,,ENST00000544446,,,MODIFIER,,,,-1;PLCD3,upstream_gene_variant,,ENST00000611986,,,MODIFIER,,,,-1;PLCD3,upstream_gene_variant,,ENST00000615898,,,MODIFIER,,,,-1;PLCD3,non_coding_transcript_exon_variant,,ENST00000546350,,n.104C>T,MODIFIER,,,,-1;PLCD3,upstream_gene_variant,,ENST00000542173,,,MODIFIER,,,,-1;PLCD3,upstream_gene_variant,,ENST00000618022,,,MODIFIER,,,,-1","A","ENSG00000161714","ENST00000619929","Transcript","missense_variant","missense_variant","847/6132","742/2370","248/789","R/W","Cgg/Tgg","rs747519089;COSV59561104",null,-1,"PLCD3","HGNC","HGNC:9061","protein_coding","YES","CCDS74077.1","ENSP00000479636","Q8N3E9.171",null,"UPI0000070705",null,"NM_133373.5","NM_133373.5","P1",null,"deleterious(0)","probably_damaging(0.936)","2024-05-15",null,"Gene3D:1.10.238.10;Pfam:PF14788;PANTHER:PTHR10336;PANTHER:PTHR10336:SF33;Superfamily:SSF47473;CDD:cd16218;Low_complexity_(Seg):seg",{"$nulls":8},"2.044e-05",0,0,0,0,0,"9.075e-06",0,1.317E-4,1.317E-4,"gnomAD_SAS","6.7597698034660425e-06",0,0,0,0,2.01613001991063E-4,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCGCCGCAGGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["XYLT2",64132,"BI","GRCh38","chr17",50356606,50356606,"+","Frame_Shift_Del","DEL","C","C","-","rs779864368",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1584del","p.Gly529AlafsTer78","p.G529Afs*78","ENST00000017003","2024-08-11",105,79,26,82,null,null,"XYLT2,frameshift_variant,p.G529Afs*78,ENST00000017003,NM_022167.4,c.1584del,HIGH,YES,,,1;XYLT2,frameshift_variant,p.G529Afs*78,ENST00000507602,,c.1584del,HIGH,,,,1;XYLT2,downstream_gene_variant,,ENST00000509778,,,MODIFIER,,,,1;XYLT2,upstream_gene_variant,,ENST00000574840,,,MODIFIER,,,,1;XYLT2,frameshift_variant,p.G529Afs*57,ENST00000376550,,c.1584del,HIGH,,,,1;XYLT2,frameshift_variant,p.G61Afs*73,ENST00000511654,,c.180del,HIGH,,,,1;XYLT2,upstream_gene_variant,,ENST00000571021,,,MODIFIER,,,,1","-","ENSG00000015532","ENST00000017003","Transcript","frameshift_variant","frameshift_variant","1593/3507","1578/2598","526/865","Y/X","taC/ta","rs779864368",null,1,"XYLT2","HGNC","HGNC:15517","protein_coding","YES","CCDS11563.1","ENSP00000017003","Q9H1B5.148",null,"UPI000013C536","Q9H1B5-1","NM_022167.4","NM_022167.4","P1",{"$nulls":3},"2024-08-11",null,"Pfam:PF12529;PANTHER:PTHR46025;PANTHER:PTHR46025:SF1",{"$nulls":8},"7.974e-06",0,0,0,0,0,"1.766e-05",0,0,"1.766e-05","gnomAD_NFE","2.0391500584082678e-05","7.351500244112685e-05",0,0,0,0,0,0,0,0,0,"7.351500244112685e-05","afr",{"$nulls":9},"HIGH",1,"deletion",1,6,null,1,"CAGCTACCCCCC","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1384188","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MBTD1",54799,"BI","GRCh38","chr17",51192913,51192913,"+","Missense_Mutation","SNP","C","C","T","rs777875400",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1559G>A","p.Arg520His","p.R520H","ENST00000415868","13/15",108,74,34,115,null,null,"MBTD1,missense_variant,p.R520H,ENST00000586178,NM_017643.3,c.1559G>A,MODERATE,YES,deleterious(0),probably_damaging(0.942),-1;MBTD1,missense_variant,p.R520H,ENST00000415868,,c.1559G>A,MODERATE,,deleterious(0),probably_damaging(0.942),-1;MBTD1,missense_variant,p.R356H,ENST00000376381,,c.1067G>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;MBTD1,missense_variant,p.R35H,ENST00000586898,,c.104G>A,MODERATE,,tolerated(0.46),probably_damaging(0.995),-1;MBTD1,3_prime_UTR_variant,,ENST00000405860,,c.*1166G>A,MODIFIER,,,,-1;MBTD1,non_coding_transcript_exon_variant,,ENST00000591270,,n.1503G>A,MODIFIER,,,,-1","T","ENSG00000011258","ENST00000415868","Transcript","missense_variant","missense_variant","1622/5099","1559/1887","520/628","R/H","cGt/cAt","rs777875400;COSV64503639",null,-1,"MBTD1","HGNC","HGNC:19866","protein_coding",null,"CCDS11581.2","ENSP00000403946","Q05BQ5.117",null,"UPI00015DE7E3","Q05BQ5-1",null,null,"P1",null,"deleterious(0)","probably_damaging(0.942)","13/15",null,"Gene3D:2.30.30.140;PDB-ENSP_mappings:3feo.A;PDB-ENSP_mappings:3feo.B;PDB-ENSP_mappings:4c5i.A;PDB-ENSP_mappings:4c5i.B;PDB-ENSP_mappings:6nfx.A;Pfam:PF02820;PROSITE_profiles:PS51079;PANTHER:PTHR12247;PANTHER:PTHR12247:SF79;SMART:SM00561;Superfamily:SSF63748",{"$nulls":8},"1.194e-05",0,0,0,0,"9.244e-05","8.798e-06",0,0,"9.244e-05","gnomAD_FIN","2.7038400730816647e-05",0,0,0,0,0,0.000282433000393211,0,"1.543019970995374e-05",0,0,0.000282433000393211,"fin",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",null,"AGAGACGATGA","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4067839;COSM4067840","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COIL",8161,"BI","GRCh38","chr17",56950655,56950655,"+","Frame_Shift_Del","DEL","T","T","-","rs748995811",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.587del","p.Lys196ArgfsTer13","p.K196Rfs*13","ENST00000240316","2024-02-07",109,77,32,112,null,null,"COIL,frameshift_variant,p.K196Rfs*13,ENST00000240316,NM_004645.3,c.587del,HIGH,YES,,,-1;COIL,downstream_gene_variant,,ENST00000573008,,,MODIFIER,,,,-1;AC004584.2,upstream_gene_variant,,ENST00000570407,,,MODIFIER,YES,,,1","-","ENSG00000121058","ENST00000240316","Transcript","frameshift_variant","frameshift_variant","618/2634","587/1731","196/576","K/X","aAg/ag","rs748995811",null,-1,"COIL","HGNC","HGNC:2184","protein_coding","YES","CCDS11592.1","ENSP00000240316","P38432.178",null,"UPI0000131068",null,"NM_004645.3","NM_004645.3","P1",{"$nulls":3},"2024-02-07",null,"PANTHER:PTHR15197;PANTHER:PTHR15197:SF0;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"2.455e-05","6.196e-05","6.084e-05",0,0,0,"1.788e-05",0,"3.487e-05","6.196e-05","gnomAD_AFR","6.769470019207802e-06","2.4355800633202307e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"TTAGCCTTTTTT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM1384596","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TRIM37",4591,"BI","GRCh38","chr17",59088373,59088373,"+","Missense_Mutation","SNP","G","G","A","rs781030263",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.199C>T","p.Arg67Cys","p.R67C","ENST00000262294","2024-04-24",42,33,9,40,null,null,"TRIM37,missense_variant,p.R67C,ENST00000262294,NM_001353086.2&NM_001320988.3&NM_015294.6&NM_001353084.2,c.199C>T,MODERATE,YES,deleterious(0),probably_damaging(0.982),-1;TRIM37,missense_variant,p.R67C,ENST00000393066,NM_001320989.3&NM_001005207.5,c.199C>T,MODERATE,,deleterious(0),probably_damaging(0.982),-1;TRIM37,missense_variant,p.R33C,ENST00000393065,NM_001353085.2&NM_001320987.3&NM_001353082.2&NM_001353083.2&NM_001320990.3,c.97C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TRIM37,missense_variant,p.R67C,ENST00000584889,,c.199C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TRIM37,downstream_gene_variant,,ENST00000625984,,,MODIFIER,,,,-1;TRIM37,missense_variant,p.R67C,ENST00000580122,,c.199C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TRIM37,3_prime_UTR_variant,,ENST00000577554,,c.*71C>T,MODIFIER,,,,-1;TRIM37,non_coding_transcript_exon_variant,,ENST00000580620,,n.478C>T,MODIFIER,,,,-1;TRIM37,non_coding_transcript_exon_variant,,ENST00000583387,,n.449C>T,MODIFIER,,,,-1;TRIM37,intron_variant,,ENST00000580973,,c.164+2927C>T,MODIFIER,,,,-1","A","ENSG00000108395","ENST00000262294","Transcript","missense_variant","missense_variant","618/4489","199/2895","67/964","R/C","Cgt/Tgt","rs781030263;COSV51885167",null,-1,"TRIM37","HGNC","HGNC:7523","protein_coding","YES","CCDS32694.1","ENSP00000262294","O94972.186",null,"UPI0000167B57","O94972-1","NM_001353086.2;NM_001320988.3;NM_015294.6;NM_001353084.2","NM_015294.6","P1",null,"deleterious(0)","probably_damaging(0.982)","2024-04-24",null,"Gene3D:3.30.40.10;PDB-ENSP_mappings:3lrq.A;PDB-ENSP_mappings:3lrq.B;PDB-ENSP_mappings:3lrq.C;PDB-ENSP_mappings:3lrq.D;PANTHER:PTHR36754;Superfamily:SSF57850",{"$nulls":8},"1.993e-05",0,0,0,2.72E-4,0,0,0,0,2.72E-4,"gnomAD_EAS","1.3524299902201165e-05",0,0,0,0,0.00020145000598859,0,0,"1.5433099179062992e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCAACGACAAT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4068252","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SKA2",348235,"BI","GRCh38","chr17",59112288,59112288,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.355C>T","p.Pro119Ser","p.P119S","ENST00000330137","2024-04-04",55,40,15,67,null,null,"SKA2,missense_variant,p.P119S,ENST00000330137,NM_182620.4,c.355C>T,MODERATE,YES,tolerated(0.35),benign(0.003),-1;SKA2,missense_variant,p.P90S,ENST00000578105,,c.268C>T,MODERATE,,tolerated(0.31),benign(0.02),-1;SKA2,missense_variant,p.P60S,ENST00000581068,,c.178C>T,MODERATE,,deleterious_low_confidence(0),benign(0.003),-1;SKA2,3_prime_UTR_variant,,ENST00000580541,,c.*45C>T,MODIFIER,,,,-1;SKA2,3_prime_UTR_variant,,ENST00000437036,NM_001100595.2,c.*45C>T,MODIFIER,,,,-1;SKA2,3_prime_UTR_variant,,ENST00000583380,NM_001330399.2,c.*45C>T,MODIFIER,,,,-1;SKA2,non_coding_transcript_exon_variant,,ENST00000583927,,n.188C>T,MODIFIER,,,,-1;SKA2,3_prime_UTR_variant,,ENST00000578519,,c.*291C>T,MODIFIER,,,,-1;SKA2,3_prime_UTR_variant,,ENST00000583976,,c.*213C>T,MODIFIER,,,,-1;AC099850.1,intron_variant,,ENST00000451775,,n.994+4697G>A,MODIFIER,YES,,,1","A","ENSG00000182628","ENST00000330137","Transcript","missense_variant","missense_variant","378/2809","355/366","119/121","P/S","Cca/Tca","COSV57521974",null,-1,"SKA2","HGNC","HGNC:28006","protein_coding","YES","CCDS45747.1","ENSP00000333433","Q8WVK7.145",null,"UPI0000070DA6","Q8WVK7-1","NM_182620.4","NM_182620.4","P1",null,"tolerated(0.35)","benign(0.003)","2024-04-04",null,"PDB-ENSP_mappings:4aj5.K;PDB-ENSP_mappings:4aj5.L;PDB-ENSP_mappings:4aj5.M;PDB-ENSP_mappings:4aj5.N;PDB-ENSP_mappings:4aj5.O;PDB-ENSP_mappings:4aj5.P;PDB-ENSP_mappings:4aj5.Q;PDB-ENSP_mappings:4aj5.R;PDB-ENSP_mappings:4aj5.S;PDB-ENSP_mappings:4aj5.T;PANTHER:PTHR32017;CDD:cd12955",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATCTGGCATGT","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4068257;COSM4068258","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["APPBP2",10513,"BI","GRCh38","chr17",60461878,60461878,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.868A>G","p.Thr290Ala","p.T290A","ENST00000083182","2024-08-13",187,130,57,211,null,null,"APPBP2,missense_variant,p.T290A,ENST00000083182,NM_001282476.1&NM_006380.5,c.868A>G,MODERATE,YES,tolerated(0.56),benign(0),-1;APPBP2,non_coding_transcript_exon_variant,,ENST00000592995,,n.1187A>G,MODIFIER,,,,-1;APPBP2,downstream_gene_variant,,ENST00000590244,,,MODIFIER,,,,-1;APPBP2,3_prime_UTR_variant,,ENST00000589341,,c.*593A>G,MODIFIER,,,,-1","C","ENSG00000062725","ENST00000083182","Transcript","missense_variant","missense_variant","1179/6492","868/1758","290/585","T/A","Aca/Gca","COSV50027325",null,-1,"APPBP2","HGNC","HGNC:622","protein_coding","YES","CCDS32699.1","ENSP00000083182","Q92624.170","A0A024QZ47.39","UPI000006D959",null,"NM_001282476.1;NM_006380.5","NM_006380.5","P1",null,"tolerated(0.56)","benign(0)","2024-08-13",null,"Gene3D:1.25.40.10;PROSITE_profiles:PS50005;PANTHER:PTHR46575;Superfamily:SSF48452",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGTGTATCAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM4068374","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBX4",9496,"BI","GRCh38","chr17",61483169,61483169,"+","Missense_Mutation","SNP","G","G","A","rs774437880",null,"TCGA-CD-A4MJ","TCGA-CD-A4MJ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"9897e6a0-16a6-448b-a494-2ff94291ce74","3cb3d878-cb2a-4022-990a-85beffc44db3","c.1291G>A","p.Val431Met","p.V431M","ENST00000240335","2024-08-08",101,67,33,142,null,null,"TBX4,missense_variant,p.V432M,ENST00000644296,NM_001321120.2,c.1294G>A,MODERATE,YES,tolerated_low_confidence(0.12),probably_damaging(0.99),1;TBX4,missense_variant,p.V431M,ENST00000240335,NM_018488.3,c.1291G>A,MODERATE,,tolerated(0.12),benign(0.042),1;TBX4,missense_variant,p.V432M,ENST00000642491,,c.1294G>A,MODERATE,,tolerated_low_confidence(0.12),probably_damaging(0.99),1;TBX4,downstream_gene_variant,,ENST00000589003,,,MODIFIER,,,,1;TBX4,non_coding_transcript_exon_variant,,ENST00000589449,,n.960G>A,MODIFIER,,,,1;TBX4,downstream_gene_variant,,ENST00000586874,,,MODIFIER,,,,1;TBX4,downstream_gene_variant,,ENST00000593249,,,MODIFIER,,,,1;TBX4,downstream_gene_variant,,ENST00000590174,,,MODIFIER,,,,1","A","ENSG00000121075","ENST00000240335","Transcript","missense_variant","missense_variant","1336/2470","1291/1638","431/545","V/M","Gtg/Atg","rs774437880;COSV53605881",null,1,"TBX4","HGNC","HGNC:11603","protein_coding",null,"CCDS11629.1","ENSP00000240335","P57082.168",null,"UPI000013CAA9","P57082-1","NM_018488.3",null,"P4",null,"tolerated(0.12)","benign(0.042)","2024-08-08",null,"PANTHER:PTHR11267;PANTHER:PTHR11267:SF29",{"$nulls":8},0.0001074,4.306E-4,"5.782e-05",0,0,0,0,0,0.0005879,0.0005879,"gnomAD_SAS","8.792930020717904e-05",0.000194731997908093,0,0,0,0,0,0,"3.086610013269819e-05",0,0.00062708999030292,0.00062708999030292,"sas",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"ATAGCGTGCAG","e263e32b-5a41-4def-b890-9036562edf48","5ed59ff7-52b0-426d-8a74-6e797b431318","287059fb-4e69-4d6d-99d5-91ec92d35bde",null,"COSM2793712","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GUCY1A1",2982,"BI","GRCh38","chr4",155711018,155711018,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-AA6A","TCGA-VQ-AA6A-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"0b0f13d1-7bef-41e4-a401-af2c5bed9ed2","9c09b720-e5da-4fcb-872b-430c0ea3abcd","c.853A>C","p.Thr285Pro","p.T285P","ENST00000296518","2024-06-10",57,50,7,47,null,null,"GUCY1A1,missense_variant,p.T285P,ENST00000506455,NM_001379669.1&NM_001130683.4&NM_001379667.1&NM_001379673.1&NM_001379668.1&NM_001256449.2&NM_001379671.1&NM_000856.6&NM_001130682.3&NM_001379676.1&NM_001379666.1,c.853A>C,MODERATE,YES,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T285P,ENST00000296518,,c.853A>C,MODERATE,,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T27P,ENST00000393832,NM_001130685.3,c.79A>C,MODERATE,,deleterious(0.01),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T285P,ENST00000511108,,c.853A>C,MODERATE,,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T285P,ENST00000513574,NM_001379672.1&NM_001130684.3&NM_001379675.1&NM_001379674.1&NM_001379670.1,c.853A>C,MODERATE,,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T285P,ENST00000455639,,c.853A>C,MODERATE,,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,missense_variant,p.T285P,ENST00000511507,NM_001130687.3,c.853A>C,MODERATE,,deleterious(0.03),probably_damaging(0.953),1;GUCY1A1,intron_variant,,ENST00000621234,,c.376+2724A>C,MODIFIER,,,,1;GUCY1A1,downstream_gene_variant,,ENST00000515602,,,MODIFIER,,,,1;GUCY1A1,3_prime_UTR_variant,,ENST00000443668,,c.*296A>C,MODIFIER,,,,1;GUCY1A1,non_coding_transcript_exon_variant,,ENST00000512983,,n.1177A>C,MODIFIER,,,,1;GUCY1A1,intron_variant,,ENST00000509901,,c.194-6141A>C,MODIFIER,,,,1;GUCY1A1,intron_variant,,ENST00000515201,,c.376+2724A>C,MODIFIER,,,,1","C","ENSG00000164116","ENST00000296518","Transcript","missense_variant","missense_variant","1062/4400","853/2073","285/690","T/P","Aca/Cca","COSV99638141",null,1,"GUCY1A1","HGNC","HGNC:4685","protein_coding",null,"CCDS34085.1","ENSP00000296518","Q02108.185",null,"UPI0000033343","Q02108-1",null,null,"P1",null,"deleterious(0.03)","probably_damaging(0.953)","2024-06-10",null,"PDB-ENSP_mappings:6jt0.A;PDB-ENSP_mappings:6jt1.A;PDB-ENSP_mappings:6jt2.A;PANTHER:PTHR45655;PANTHER:PTHR45655:SF4;Pfam:PF07701;Gene3D:3.30.450.260",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GCAAGACATTT","35aebddf-561a-445d-b282-6e347e862268","852ea34f-266a-4903-8d58-a81295d95434","eb7e9aad-95d3-4efc-a706-e2c986d17055",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RCOR3",55758,"BI","GRCh38","chr1",211295725,211295725,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.815G>A","p.Gly272Asp","p.G272D","ENST00000367005","2024-08-11",71,53,18,68,null,null,"RCOR3,missense_variant,p.G330D,ENST00000419091,NM_001350069.1&NM_001136223.3,c.989G>A,MODERATE,YES,tolerated(0.35),benign(0.005),1;RCOR3,missense_variant,p.G272D,ENST00000367005,NM_001350070.1&NM_018254.4,c.815G>A,MODERATE,,tolerated(0.36),benign(0.001),1;RCOR3,missense_variant,p.G330D,ENST00000367006,NM_001136224.3,c.989G>A,MODERATE,,tolerated(0.21),benign(0.009),1;RCOR3,missense_variant,p.G330D,ENST00000452621,NM_001136225.2,c.989G>A,MODERATE,,tolerated(0.35),benign(0.007),1;RCOR3,missense_variant,p.G90D,ENST00000529763,,c.269G>A,MODERATE,,tolerated(0.28),probably_damaging(0.955),1;RCOR3,missense_variant,p.G117D,ENST00000534460,,c.350G>A,MODERATE,,deleterious(0.04),benign(0.019),1;RCOR3,missense_variant,p.G39D,ENST00000485186,,c.116G>A,MODERATE,,tolerated(0.48),probably_damaging(0.911),1;RCOR3,3_prime_UTR_variant,,ENST00000528926,,c.*36G>A,MODIFIER,,,,1","A","ENSG00000117625","ENST00000367005","Transcript","missense_variant","missense_variant","956/4246","815/1488","272/495","G/D","gGt/gAt","COSV65364786;COSV65366538",null,1,"RCOR3","HGNC","HGNC:25594","protein_coding",null,"CCDS31016.1","ENSP00000355972","Q9P2K3.160",null,"UPI000015F3A2","Q9P2K3-1","NM_001350070.1;NM_018254.4",{"$nulls":3},"tolerated(0.36)","benign(0.001)","2024-08-11",null,"Gene3D:1.20.58.1880;PDB-ENSP_mappings:4czz.B;PANTHER:PTHR16089;PANTHER:PTHR16089:SF13",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"GGAAGGTGGAA","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4027872;COSM4027873","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["XIRP1",165904,"BI","GRCh38","chr3",39185911,39185911,"+","Missense_Mutation","SNP","G","G","A","rs979897902",null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.3535C>T","p.Arg1179Cys","p.R1179C","ENST00000340369","2024-02-02",35,22,13,43,null,null,"XIRP1,missense_variant,p.R1179C,ENST00000340369,NM_194293.4,c.3535C>T,MODERATE,YES,deleterious(0.01),benign(0.092),-1;XIRP1,intron_variant,,ENST00000396251,NM_001198621.4,c.3357+178C>T,MODIFIER,,,,-1;XIRP1,intron_variant,,ENST00000421646,NM_001351377.2,c.-167-250C>T,MODIFIER,,,,-1","A","ENSG00000168334","ENST00000340369","Transcript","missense_variant","missense_variant","3765/6461","3535/5532","1179/1843","R/C","Cgc/Tgc","rs979897902;COSV61137260",null,-1,"XIRP1","HGNC","HGNC:14301","protein_coding","YES","CCDS2683.1","ENSP00000343140","Q702N8.118",null,"UPI00001BFB06","Q702N8-1","NM_194293.4","NM_194293.4","P3",null,"deleterious(0.01)","benign(0.092)","2024-02-02",null,"PANTHER:PTHR22591;PANTHER:PTHR22591:SF2;MobiDB_lite:mobidb-lite",{"$nulls":8},"8.011e-06",0.0001242,0,0,0,0,0,0,0,0.0001242,"gnomAD_AFR","1.3525899703381583e-05",0,0,0,0,0,0,0,"3.088330049649812e-05",0,0,"3.088330049649812e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TGGGCGGGGAG","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4117468","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAM193A",8603,"BI","GRCh38","chr4",2696450,2696450,"+","Frame_Shift_Del","DEL","A","A","-","rs768952789",null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.2497del","p.Met833TrpfsTer23","p.M833Wfs*23","ENST00000324666","16/20",78,64,13,59,null,null,"FAM193A,frameshift_variant,p.M1124Wfs*23,ENST00000637812,NM_001366316.1&NM_001366318.2,c.3370del,HIGH,YES,,,1;FAM193A,frameshift_variant,p.M833Wfs*23,ENST00000324666,NM_001256666.1,c.2497del,HIGH,,,,1;FAM193A,frameshift_variant,p.M833Wfs*23,ENST00000382839,NM_003704.3,c.2497del,HIGH,,,,1;FAM193A,frameshift_variant,p.M833Wfs*23,ENST00000505311,NM_001256668.1,c.2497del,HIGH,,,,1;FAM193A,frameshift_variant,p.M855Wfs*23,ENST00000502458,NM_001256667.1,c.2563del,HIGH,,,,1;FAM193A,frameshift_variant,p.M833Wfs*23,ENST00000545951,,c.2497del,HIGH,,,,1;FAM193A,frameshift_variant,p.M687Wfs*23,ENST00000513350,,c.2059del,HIGH,,,,1;FAM193A,3_prime_UTR_variant,,ENST00000512465,,c.*71del,MODIFIER,,,,1;FAM193A,3_prime_UTR_variant,,ENST00000513898,,c.*95del,MODIFIER,,,,1;FAM193A,non_coding_transcript_exon_variant,,ENST00000506120,,n.183del,MODIFIER,,,,1","-","ENSG00000125386","ENST00000324666","Transcript","frameshift_variant","frameshift_variant","2842/4846","2491/3798","831/1265","K/X","Aaa/aa","rs768952789",null,1,"FAM193A","HGNC","HGNC:16822","protein_coding",null,"CCDS58875.1","ENSP00000324587","P78312.134",null,"UPI0000551BCA","P78312-1","NM_001256666.1",null,"A2",{"$nulls":3},"16/20",null,"PANTHER:PTHR15109;PANTHER:PTHR15109:SF2;MobiDB_lite:mobidb-lite",{"$nulls":8},"3.977e-06",0,0,0,0,0,"8.791e-06",0,0,"8.791e-06","gnomAD_NFE","6.762610155419679e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":11},"HIGH",null,"deletion",1,6,null,null,"CAACCTAAAAAA","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM1429358;COSM4337677","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SCUBE3",222663,"BI","GRCh38","chr6",35228631,35228631,"+","Nonsense_Mutation","SNP","C","C","T","rs1439669327",null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.226C>T","p.Arg76Ter","p.R76*","ENST00000274938","2024-03-22",40,31,9,32,null,null,"SCUBE3,stop_gained,p.R76*,ENST00000274938,NM_152753.4&NM_001303136.2,c.226C>T,HIGH,YES,,,1;Z97832.2,upstream_gene_variant,,ENST00000605896,,,MODIFIER,YES,,,-1","T","ENSG00000146197","ENST00000274938","Transcript","stop_gained","stop_gained","689/7819","226/2982","76/993","R/*","Cga/Tga","rs1439669327;COSV51455183;COSV99235012",null,1,"SCUBE3","HGNC","HGNC:13655","protein_coding","YES","CCDS4800.1","ENSP00000274938","Q8IX30.151",null,"UPI0000074423","Q8IX30-1","NM_152753.4;NM_001303136.2","NM_152753.4","P1",{"$nulls":3},"2024-03-22",null,"Gene3D:2.10.25.10;PROSITE_profiles:PS50026;PANTHER:PTHR24046;PANTHER:PTHR24046:SF2;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184;CDD:cd00054",{"$nulls":8},"7.962e-06",0,0,0,0,"4.624e-05","8.803e-06",0,0,"4.624e-05","gnomAD_FIN",{"$nulls":14},"0;1;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1;1",null,"GCGAGCGAGAG","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM3873407;COSM3873408","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TLE1",7088,"BI","GRCh38","chr9",81587693,81587695,"+","In_Frame_Del","DEL","GTC","GTC","-","novel",null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.1963_1965del","p.Asp655del","p.D655del","ENST00000376499","17/20",28,22,6,36,null,null,"TLE1,inframe_deletion,p.D655del,ENST00000376499,NM_005077.5&NM_001303104.1&NM_001303103.1,c.1963_1965del,MODERATE,YES,,,-1","-","ENSG00000196781","ENST00000376499","Transcript","inframe_deletion","inframe_deletion","3270-3272/4135","1963-1965/2313","655/770","D/-","GAC/-",null,null,-1,"TLE1","HGNC","HGNC:11837","protein_coding","YES","CCDS6661.1","ENSP00000365682","Q04724.206",null,"UPI0000137034",null,"NM_005077.5;NM_001303104.1;NM_001303103.1","NM_005077.5","P1",{"$nulls":3},"17/20",null,"PDB-ENSP_mappings:1gxr.A;PDB-ENSP_mappings:1gxr.B;PDB-ENSP_mappings:2ce8.A;PDB-ENSP_mappings:2ce8.B;PDB-ENSP_mappings:2ce8.C;PDB-ENSP_mappings:2ce8.D;PDB-ENSP_mappings:2ce9.A;PDB-ENSP_mappings:2ce9.B;PDB-ENSP_mappings:2ce9.C;PDB-ENSP_mappings:2ce9.D;PDB-ENSP_mappings:5mwj.A;PDB-ENSP_mappings:5mwj.B;CDD:cd00200;Gene3D:2.130.10.10;SMART:SM00320;Superfamily:SSF50978;PANTHER:PTHR10814;PANTHER:PTHR10814:SF29",{"$nulls":41},"MODERATE",1,"deletion",1,{"$nulls":3},"GGTGAAGTCGTGCT","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["CAPN1",823,"BI","GRCh38","chr11",65209879,65209879,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.1825G>A","p.Glu609Lys","p.E609K","ENST00000279247","18/22",40,32,8,36,null,null,"CAPN1,missense_variant,p.E609K,ENST00000527323,,c.1825G>A,MODERATE,YES,deleterious(0),probably_damaging(0.989),1;CAPN1,missense_variant,p.E609K,ENST00000533820,NM_001198868.2,c.1825G>A,MODERATE,,deleterious(0),probably_damaging(0.989),1;CAPN1,missense_variant,p.E609K,ENST00000524773,NM_001198869.1,c.1825G>A,MODERATE,,deleterious(0),probably_damaging(0.989),1;CAPN1,missense_variant,p.E609K,ENST00000279247,NM_005186.4,c.1825G>A,MODERATE,,deleterious(0),probably_damaging(0.989),1;CAPN1,missense_variant,p.E609K,ENST00000533129,,c.1825G>A,MODERATE,,deleterious(0),probably_damaging(0.989),1;SLC22A20P,upstream_gene_variant,,ENST00000525264,,,MODIFIER,,,,1;SLC22A20P,upstream_gene_variant,,ENST00000525437,,,MODIFIER,YES,,,1;SLC22A20P,upstream_gene_variant,,ENST00000529062,,,MODIFIER,,,,1;CAPN1,downstream_gene_variant,,ENST00000530495,,,MODIFIER,,,,1;CAPN1,non_coding_transcript_exon_variant,,ENST00000528165,,n.1402G>A,MODIFIER,,,,1;CAPN1,non_coding_transcript_exon_variant,,ENST00000530567,,n.275G>A,MODIFIER,,,,1;CAPN1,non_coding_transcript_exon_variant,,ENST00000533704,,n.469G>A,MODIFIER,,,,1;CAPN1,downstream_gene_variant,,ENST00000525013,,,MODIFIER,,,,1;CAPN1,downstream_gene_variant,,ENST00000533079,,,MODIFIER,,,,1;SLC22A20P,upstream_gene_variant,,ENST00000530038,,,MODIFIER,,,,1","A","ENSG00000014216","ENST00000279247","Transcript","missense_variant","missense_variant","1912/2952","1825/2145","609/714","E/K","Gag/Aag","COSV54196978",null,1,"CAPN1","HGNC","HGNC:1476","protein_coding",null,"CCDS44644.1","ENSP00000279247","P07384.224",null,"UPI0000000E05",null,"NM_005186.4","NM_005186.4","P1",null,"deleterious(0)","probably_damaging(0.989)","18/22",null,"CDD:cd16198;Pfam:PF13833;Gene3D:1.10.238.10;Superfamily:SSF47473;PROSITE_profiles:PS50222;PANTHER:PTHR10183;PANTHER:PTHR10183:SF284",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TGGTGGAGTTC","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4035350","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SYT16",83851,"BI","GRCh38","chr14",62100603,62100603,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.1834C>A","p.Leu612Met","p.L612M","ENST00000568344","2024-06-06",43,26,16,29,null,null,"SYT16,missense_variant,p.L612M,ENST00000568344,NM_001367657.1&NM_001367654.1&NM_001367650.1&NM_001367661.1&NM_001367659.1&NM_001367656.1&NM_001367652.1&NM_001367663.1,c.1834C>A,MODERATE,YES,tolerated(0.4),possibly_damaging(0.893),1;SYT16,missense_variant,p.L170M,ENST00000430451,,c.508C>A,MODERATE,,tolerated(0.24),possibly_damaging(0.893),1;SYT16,3_prime_UTR_variant,,ENST00000555409,,c.*771C>A,MODIFIER,,,,1;AL390816.2,downstream_gene_variant,,ENST00000554252,,,MODIFIER,,,,-1;AL390816.2,downstream_gene_variant,,ENST00000655145,,,MODIFIER,YES,,,-1","A","ENSG00000139973","ENST00000568344","Transcript","missense_variant","missense_variant","2031/13978","1834/1938","612/645","L/M","Ctg/Atg","COSV70855236",null,1,"SYT16","HGNC","HGNC:23142","protein_coding","YES","CCDS45121.1","ENSP00000478637","Q17RD7.110",null,"UPI0000EE1AC0","Q17RD7-1","NM_001367657.1;NM_001367654.1;NM_001367650.1;NM_001367661.1;NM_001367659.1;NM_001367656.1;NM_001367652.1;NM_001367663.1",null,"P1",null,"tolerated(0.4)","possibly_damaging(0.893)","2024-06-06",null,"CDD:cd08408;PANTHER:PTHR46129:SF4;PANTHER:PTHR46129;Pfam:PF00168;Gene3D:2.60.40.150;SMART:SM00239;Superfamily:SSF49562",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TTGCCCTGGGC","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4051635;COSM4051636","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PML",5371,"BI","GRCh38","chr15",73998458,73998458,"+","Missense_Mutation","SNP","G","G","A","rs1376622935",null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.584G>A","p.Arg195His","p.R195H","ENST00000268058","2024-02-09",45,39,6,28,null,null,"PML,missense_variant,p.R195H,ENST00000268058,NM_033238.3,c.584G>A,MODERATE,YES,tolerated(0.1),benign(0.051),1;PML,missense_variant,p.R195H,ENST00000565898,,c.584G>A,MODERATE,,tolerated(0.1),benign(0.055),1;PML,missense_variant,p.R195H,ENST00000563500,,c.584G>A,MODERATE,,tolerated(0.07),benign(0.017),1;PML,missense_variant,p.R195H,ENST00000435786,NM_033240.3,c.584G>A,MODERATE,,tolerated(0.1),benign(0.109),1;PML,missense_variant,p.R195H,ENST00000268059,NM_033239.3,c.584G>A,MODERATE,,tolerated(0.06),benign(0.335),1;PML,missense_variant,p.R195H,ENST00000436891,NM_033244.4,c.584G>A,MODERATE,,tolerated(0.09),benign(0.081),1;PML,missense_variant,p.R195H,ENST00000354026,NM_033250.3,c.584G>A,MODERATE,,tolerated(0.06),benign(0.125),1;PML,missense_variant,p.R195H,ENST00000569477,,c.584G>A,MODERATE,,tolerated(0.08),benign(0.007),1;PML,missense_variant,p.R195H,ENST00000395135,NM_002675.3,c.584G>A,MODERATE,,tolerated(0.09),benign(0.007),1;PML,missense_variant,p.R195H,ENST00000569965,,c.584G>A,MODERATE,,tolerated(0.09),benign(0.081),1;PML,missense_variant,p.R195H,ENST00000564428,NM_033249.2,c.584G>A,MODERATE,,tolerated(0.09),benign(0.037),1;PML,missense_variant,p.R195H,ENST00000395132,NM_033247.3,c.584G>A,MODERATE,,tolerated(0.1),benign(0.015),1;PML,missense_variant,p.R195H,ENST00000359928,NM_033246.2,c.584G>A,MODERATE,,tolerated(0.1),benign(0.054),1;PML,missense_variant,p.R195H,ENST00000567543,,c.584G>A,MODERATE,,tolerated(0.1),benign(0.054),1;STOML1,upstream_gene_variant,,ENST00000561656,NM_001324228.2&NM_001324229.2&NM_001256676.1&NM_001324227.1&NM_001324226.1,,MODIFIER,,,,-1;PML,non_coding_transcript_exon_variant,,ENST00000564725,,n.435G>A,MODIFIER,,,,1;STOML1,upstream_gene_variant,,ENST00000563229,,,MODIFIER,,,,-1","A","ENSG00000140464","ENST00000268058","Transcript","missense_variant","missense_variant","681/5565","584/2649","195/882","R/H","cGc/cAc","rs1376622935;COSV51442833",null,1,"PML","HGNC","HGNC:9113","protein_coding","YES","CCDS10255.1","ENSP00000268058","P29590.241",null,"UPI000013D78F","P29590-1","NM_033238.3","NM_033238.3","P3",null,"tolerated(0.1)","benign(0.051)","2024-02-09",null,"PROSITE_profiles:PS50119;PANTHER:PTHR25462:SF241;PANTHER:PTHR25462;Gene3D:3.30.40.200",{"$nulls":8},"8.081e-06",0,"2.898e-05",0,0,0,"9.062e-06",0,0,"2.898e-05","gnomAD_AMR","3.380529960850254e-05",0,0,0.000265040987869724,0,0,0,0,"1.5433999578817748e-05",0,0,0.000265040987869724,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCACCGCACCC","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4056770;COSM4056771;COSM4056772;COSM4056773;COSM4056774","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MBD3L1",85509,"BI","GRCh38","chr19",8843253,8843253,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.575A>T","p.Glu192Val","p.E192V","ENST00000305625","2024-01-01",20,15,5,15,null,null,"MBD3L1,missense_variant,p.E192V,ENST00000595891,,c.575A>T,MODERATE,YES,deleterious(0.02),benign(0.003),1;MBD3L1,missense_variant,p.E192V,ENST00000305625,NM_145208.2,c.575A>T,MODERATE,,deleterious(0.02),benign(0.003),1","T","ENSG00000170948","ENST00000305625","Transcript","missense_variant","missense_variant","661/748","575/585","192/194","E/V","gAa/gTa","COSV59775738",null,1,"MBD3L1","HGNC","HGNC:15774","protein_coding",null,"CCDS12209.1","ENSP00000304198","Q8WWY6.124",null,"UPI000013EA77",null,"NM_145208.2",null,"P1",null,"deleterious(0.02)","benign(0.003)","2024-01-01",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TCCTGAAAAAC","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4083141","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AMOT",154796,"BI","GRCh38","chrX",112780996,112780996,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-HU-8602","TCGA-HU-8602-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"d60f2fc4-7e4c-4ebe-9915-b7f1409fb497","e6844a18-1303-4185-83d0-080c428d27f4","c.2363T>C","p.Leu788Pro","p.L788P","ENST00000371959","2024-12-14",264,210,54,233,null,null,"AMOT,missense_variant,p.L788P,ENST00000371959,NM_001113490.1,c.2363T>C,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;AMOT,missense_variant,p.L379P,ENST00000304758,NM_133265.3,c.1136T>C,MODERATE,,deleterious(0),probably_damaging(0.995),-1;AMOT,missense_variant,p.L556P,ENST00000371962,,c.1667T>C,MODERATE,,deleterious(0),probably_damaging(0.995),-1;AMOT,missense_variant,p.L556P,ENST00000371958,,c.1667T>C,MODERATE,,deleterious(0),probably_damaging(0.992),-1;MIR4329,upstream_gene_variant,,ENST00000582643,,,MODIFIER,YES,,,-1","G","ENSG00000126016","ENST00000371959","Transcript","missense_variant","missense_variant","3089/8045","2363/3255","788/1084","L/P","cTg/cCg","COSV59060952",null,-1,"AMOT","HGNC","HGNC:17810","protein_coding","YES","CCDS48154.1","ENSP00000361027","Q4VCS5.145",null,"UPI000050ED33","Q4VCS5-1","NM_001113490.1",null,"P4",null,"deleterious(0)","probably_damaging(0.995)","2024-12-14",null,"Pfam:PF12240;PANTHER:PTHR14826;PANTHER:PTHR14826:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACATCAGAGAC","8a9d7d1d-cef8-4452-94bb-89a746503b9e","550137a3-5aeb-480e-965e-8aaa16bf2474","edce7aac-1d8b-41cb-88e2-f50b8eeca4d8",null,"COSM4105959;COSM4105960;COSM4105961","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TTN",7273,"BI","GRCh38","chr2",178563592,178563592,"+","Missense_Mutation","SNP","C","C","T","rs745920301",null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.77617G>A","p.Val25873Ile","p.V25873I","ENST00000591111","276/313",112,83,29,141,null,null,"TTN,missense_variant,p.V27514I,ENST00000589042,NM_001267550.2,c.82540G>A,MODERATE,YES,,benign(0.001),-1;TTN,missense_variant,p.V25873I,ENST00000591111,,c.77617G>A,MODERATE,,,benign(0.001),-1;TTN,missense_variant,p.V24946I,ENST00000342992,NM_133378.4&NM_001256850.1,c.74836G>A,MODERATE,,,benign(0),-1;TTN,missense_variant,p.V18449I,ENST00000460472,NM_003319.4,c.55345G>A,MODERATE,,,benign(0.194),-1;TTN,missense_variant,p.V18641I,ENST00000342175,NM_133437.4,c.55921G>A,MODERATE,,,,-1;TTN,missense_variant,p.V18574I,ENST00000359218,NM_133432.3,c.55720G>A,MODERATE,,,benign(0.003),-1;AC009948.3,downstream_gene_variant,,ENST00000624360,,,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000419746,,n.2044-18980C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000438095,,n.195-7708C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.414-7708C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+39956C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.75-7708C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.346-20121C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.215-18980C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.597+25901C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.75-19932C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590932,,n.615+21231C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.442+27764C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.346-20981C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.433+25901C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.462+21231C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.346-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.50-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.21+25901C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.75-27547C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.50-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.75-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000627564,,n.378-7708C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.50-27547C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+34779C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.552-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.220-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.119-34004C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.417-34004C>T,MODIFIER,YES,,,1","T","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","77842/104301","77617/103053","25873/34350","V/I","Gtt/Att","rs745920301;COSV59864357",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.001)","276/313",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":8},"1.607e-05",0,"2.897e-05",0,0,0,"8.877e-06",0,"6.536e-05","6.536e-05","gnomAD_SAS","4.734590038424358e-05","4.865710070589557e-05",0,0,0,0,0,0,"4.6299199311761186e-05",0,4.17361996369436E-4,4.17361996369436E-4,"sas",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"TCTAACGCCTT","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM1305995;COSM1305996;COSM1305997;COSM1305998","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHL1",10752,"BI","GRCh38","chr3",394823,394823,"+","Missense_Mutation","SNP","G","G","T","rs752478426",null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.2997G>T","p.Gln999His","p.Q999H","ENST00000397491","23/27",61,49,11,88,null,null,"CHL1,missense_variant,p.Q1015H,ENST00000256509,NM_006614.4,c.3045G>T,MODERATE,YES,tolerated(0.12),benign(0.269),1;CHL1,missense_variant,p.Q1015H,ENST00000620033,NM_001253388.1,c.3045G>T,MODERATE,,tolerated(0.11),benign(0.16),1;CHL1,missense_variant,p.Q999H,ENST00000397491,NM_001253387.1,c.2997G>T,MODERATE,,tolerated(0.11),possibly_damaging(0.559),1;CHL1,missense_variant,p.Q202H,ENST00000445697,,c.606G>T,MODERATE,,tolerated(0.1),benign(0.16),1;CHL1,3_prime_UTR_variant,,ENST00000453040,,c.*3335G>T,MODIFIER,,,,1","T","ENSG00000134121","ENST00000397491","Transcript","missense_variant","missense_variant","3464/5235","2997/3627","999/1208","Q/H","caG/caT","rs752478426;COSV56585294;COSV56592745",null,1,"CHL1","HGNC","HGNC:1939","protein_coding",null,"CCDS58812.1","ENSP00000380628","O00533.162",null,"UPI0000E08093","O00533-1","NM_001253387.1",null,"A2",null,"tolerated(0.11)","possibly_damaging(0.559)","23/27",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR10075;PANTHER:PTHR10075:SF43;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":8},"3.981e-06",0,0,0,0,0,"8.797e-06",0,0,"8.797e-06","gnomAD_NFE",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1;1",null,"TCACAGGGCTG","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM4117711","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BACH2",60468,"BI","GRCh38","chr6",89951184,89951184,"+","Missense_Mutation","SNP","C","C","T","rs61740507",null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.922G>A","p.Glu308Lys","p.E308K","ENST00000257749","2024-07-09",59,47,12,44,null,null,"BACH2,missense_variant,p.E308K,ENST00000257749,NM_021813.4,c.922G>A,MODERATE,YES,deleterious(0.03),benign(0.148),-1;BACH2,missense_variant,p.E308K,ENST00000537989,NM_001170794.1,c.922G>A,MODERATE,,deleterious(0.03),benign(0.148),-1;BACH2,missense_variant,p.E308K,ENST00000343122,,c.922G>A,MODERATE,,deleterious(0.03),benign(0.148),-1;AL121787.1,intron_variant,,ENST00000413986,,n.60-447C>T,MODIFIER,,,,1;AL121787.1,intron_variant,,ENST00000445838,,n.165-447C>T,MODIFIER,YES,,,1","T","ENSG00000112182","ENST00000257749","Transcript","missense_variant","missense_variant","1731/9215","922/2526","308/841","E/K","Gag/Aag","rs61740507;COSV57582961",null,-1,"BACH2","HGNC","HGNC:14078","protein_coding","YES","CCDS5026.1","ENSP00000257749","Q9BYV9.166",null,"UPI000004F8AD",null,"NM_021813.4","NM_021813.4","P1",null,"deleterious(0.03)","benign(0.148)","2024-07-09",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR46105;PANTHER:PTHR46105:SF8",{"$nulls":8},"7.983e-06",0,0,0,0,0,"8.832e-06",0,"3.267e-05","3.267e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CATCTCGACAT","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM3876162;COSM3876163","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NOXA1",10811,"BI","GRCh38","chr9",137431278,137431278,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.745del","p.Leu249SerfsTer66","p.L249Sfs*66","ENST00000341349","2024-08-14",154,122,32,126,null,null,"NOXA1,frameshift_variant,p.L249Sfs*66,ENST00000341349,NM_006647.2&NM_001256067.2,c.745del,HIGH,YES,,,1;NOXA1,frameshift_variant,p.L193Sfs*66,ENST00000392815,NM_001256068.1,c.577del,HIGH,,,,1;ENTPD8,downstream_gene_variant,,ENST00000344119,NM_198585.3,,MODIFIER,,,,-1;ENTPD8,downstream_gene_variant,,ENST00000371506,NM_001033113.2,,MODIFIER,YES,,,-1;ENTPD8,downstream_gene_variant,,ENST00000461823,,,MODIFIER,,,,-1","-","ENSG00000188747","ENST00000341349","Transcript","frameshift_variant","frameshift_variant","921/1678","741/1452","247/483","G/X","ggC/gg",null,null,1,"NOXA1","HGNC","HGNC:10668","protein_coding","YES","CCDS7042.1","ENSP00000342848","Q86UR1.149",null,"UPI0000074717","Q86UR1-2","NM_006647.2;NM_001256067.2",null,"P1",{"$nulls":3},"2024-08-14",null,"PANTHER:PTHR15175;PANTHER:PTHR15175:SF4",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"CCAGGGCCCCCT","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM1461402","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TEX30",93081,"BI","GRCh38","chr13",102766551,102766551,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.534G>A","p.Met178Ile","p.M178I","ENST00000376032","2024-06-06",39,30,9,53,null,null,"TEX30,missense_variant,p.M137I,ENST00000376019,,c.411G>A,MODERATE,,tolerated(0.15),possibly_damaging(0.714),-1;TEX30,missense_variant,p.M178I,ENST00000376032,NM_138779.5,c.534G>A,MODERATE,YES,tolerated(0.14),possibly_damaging(0.714),-1;TEX30,missense_variant,p.A110T,ENST00000376027,,c.328G>A,MODERATE,,tolerated_low_confidence(0.15),benign(0.024),-1;TEX30,missense_variant,p.M137I,ENST00000376021,NM_001286776.2,c.411G>A,MODERATE,,tolerated(0.15),possibly_damaging(0.714),-1;TEX30,missense_variant,p.A110T,ENST00000376029,NM_001286775.2,c.328G>A,MODERATE,,tolerated_low_confidence(0.15),benign(0.024),-1;TEX30,missense_variant,p.A69T,ENST00000376022,,c.205G>A,MODERATE,,tolerated_low_confidence(0.31),benign(0.024),-1;TEX30,downstream_gene_variant,,ENST00000487260,,,MODIFIER,,,,-1;AL157769.1,non_coding_transcript_exon_variant,,ENST00000660220,,n.765C>T,MODIFIER,YES,,,1","T","ENSG00000151287","ENST00000376032","Transcript","missense_variant","missense_variant","699/1362","534/684","178/227","M/I","atG/atA","COSV65696300",null,-1,"TEX30","HGNC","HGNC:25188","protein_coding","YES","CCDS9503.2","ENSP00000365200","Q5JUR7.113","A0A024RDZ1.46","UPI0000070F4A","Q5JUR7-1","NM_138779.5","NM_138779.5","P1",null,"tolerated(0.14)","possibly_damaging(0.714)","2024-06-06",null,"Superfamily:SSF53474;Gene3D:3.40.50.1820;Pfam:PF01738;PANTHER:PTHR13136;PANTHER:PTHR13136:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCTTGCATTTT","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM4045754;COSM4045755;COSM4045756;COSM4045757","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["QRICH2",84074,"BI","GRCh38","chr17",76280935,76280935,"+","Missense_Mutation","SNP","G","G","A","rs974821346",null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.3784C>T","p.Arg1262Cys","p.R1262C","ENST00000262765","2024-09-19",66,40,26,49,null,null,"QRICH2,missense_variant,p.R1428C,ENST00000636395,,c.4282C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.84),-1;QRICH2,missense_variant,p.R1262C,ENST00000262765,NM_032134.2,c.3784C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.731),-1;QRICH2,missense_variant,p.R270C,ENST00000447564,,c.808C>T,MODERATE,,tolerated(0.1),possibly_damaging(0.886),-1;QRICH2,upstream_gene_variant,,ENST00000532549,,,MODIFIER,,,,-1;QRICH2,3_prime_UTR_variant,,ENST00000524722,,c.*548C>T,MODIFIER,,,,-1","A","ENSG00000129646","ENST00000262765","Transcript","missense_variant","missense_variant","3964/5357","3784/4992","1262/1663","R/C","Cgt/Tgt","rs974821346;COSV53150362",null,-1,"QRICH2","HGNC","HGNC:25326","protein_coding",null,"CCDS32741.1","ENSP00000262765","Q9H0J4.123",null,"UPI000006FECD","Q9H0J4-1","NM_032134.2",null,"A2",null,"deleterious(0.02)","possibly_damaging(0.731)","2024-09-19",null,"Pfam:PF16043;PANTHER:PTHR46766",{"$nulls":8},"1.205e-05",0,"2.894e-05",0,0,0,"8.852e-06",1.639E-4,0,1.639E-4,"gnomAD_OTH","6.7644400587596465e-06",0,0,0,0,0.000202347000595182,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CACACGGCCCA","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM4069856","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATP4A",495,"BI","GRCh38","chr19",35555710,35555710,"+","Missense_Mutation","SNP","G","G","A","rs767990060",null,"TCGA-HU-A4GX","TCGA-HU-A4GX-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"fffb9288-14f9-4466-b7a2-7aa1743792ff","a82c8c45-753a-4815-83d7-c249a1638801","c.1972C>T","p.Arg658Cys","p.R658C","ENST00000262623","13/22",208,147,61,205,null,null,"ATP4A,missense_variant,p.R658C,ENST00000262623,NM_000704.3,c.1972C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.632),-1;ATP4A,3_prime_UTR_variant,,ENST00000592767,,c.*83C>T,MODIFIER,,,,-1;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,,n.256C>T,MODIFIER,,,,-1;AD000090.1,upstream_gene_variant,,ENST00000638356,,,MODIFIER,YES,,,1","A","ENSG00000105675","ENST00000262623","Transcript","missense_variant","missense_variant","2001/3721","1972/3108","658/1035","R/C","Cgc/Tgc","rs767990060;COSV52865161",null,-1,"ATP4A","HGNC","HGNC:819","protein_coding","YES","CCDS12467.1","ENSP00000262623","P20648.206","A0A384MR29.10","UPI000016A49B",null,"NM_000704.3","NM_000704.3","P1",null,"deleterious(0.03)","possibly_damaging(0.632)","13/22",null,"SFLD:SFLDS00003;SFLD:SFLDF00027;CDD:cd02608;Gene3D:1.20.1110.10;Gene3D:3.40.50.1000;TIGRFAM:TIGR01106;Superfamily:SSF56784;Superfamily:SSF81665;PANTHER:PTHR43294:SF10;PANTHER:PTHR43294",{"$nulls":8},"1.993e-05",0,0,0,"5.439e-05",0,"3.529e-05",0,0,"5.439e-05","gnomAD_EAS","3.381069836905226e-05",0,0,0,0,2.01775997993536E-4,0,0,"6.173409929033369e-05",0,0,"6.173409929033369e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GAGGCGGGCAG","fabc4f24-40fd-44e9-9f14-0621aa9db15f","7a30914c-76e4-43d3-9263-d28b510ef465","75915370-0895-4933-8875-8a31c65c3d50",null,"COSM4077068","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MTOR",2475,"BI","GRCh38","chr1",11238576,11238576,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.1828T>G","p.Phe610Val","p.F610V","ENST00000361445","12/58",36,32,4,40,null,null,"MTOR,missense_variant,p.F610V,ENST00000361445,NM_004958.4,c.1828T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.537),-1","C","ENSG00000198793","ENST00000361445","Transcript","missense_variant","missense_variant","1949/8721","1828/7650","610/2549","F/V","Ttc/Gtc","COSV100816612;COSV63879033",null,-1,"MTOR","HGNC","HGNC:3942","protein_coding","YES","CCDS127.1","ENSP00000354558","P42345.215",null,"UPI000012ABD3",null,"NM_004958.4","NM_004958.4","P1",null,"deleterious(0)","possibly_damaging(0.537)","12/58",null,"PDB-ENSP_mappings:5h64.A;PDB-ENSP_mappings:5h64.a;PDB-ENSP_mappings:5zcs.A;PDB-ENSP_mappings:5zcs.B;PDB-ENSP_mappings:6bcu.A;PDB-ENSP_mappings:6bcu.B;PDB-ENSP_mappings:6bcx.A;PDB-ENSP_mappings:6bcx.B;PDB-ENSP_mappings:6sb0.A;PDB-ENSP_mappings:6sb0.B;PDB-ENSP_mappings:6sb2.A;PDB-ENSP_mappings:6sb2.B;PANTHER:PTHR11139;PANTHER:PTHR11139:SF9;Gene3D:1.25.10.10;Superfamily:SSF48371",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CAGGAAATGAT","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM4020692","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GOLGB1",2804,"BI","GRCh38","chr3",121695930,121695930,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.4578A>C","p.Gln1526His","p.Q1526H","ENST00000340645","13/22",249,190,59,189,null,null,"GOLGB1,missense_variant,p.Q1531H,ENST00000393667,NM_001366282.2&NM_001256486.2,c.4593A>C,MODERATE,YES,deleterious(0.04),benign(0.135),-1;GOLGB1,missense_variant,p.Q1526H,ENST00000340645,NM_001366283.2&NM_004487.5,c.4578A>C,MODERATE,,tolerated(0.06),probably_damaging(0.934),-1;GOLGB1,missense_variant,p.Q1451H,ENST00000614479,NM_001256488.1&NM_001366284.2&NM_001256487.2,c.4353A>C,MODERATE,,tolerated(0.07),probably_damaging(0.997),-1;GOLGB1,missense_variant,p.Q1490H,ENST00000494517,,c.4470A>C,MODERATE,,tolerated(0.06),possibly_damaging(0.891),-1;GOLGB1,downstream_gene_variant,,ENST00000489400,,,MODIFIER,,,,-1;GOLGB1,3_prime_UTR_variant,,ENST00000482512,,c.*4501A>C,MODIFIER,,,,-1","G","ENSG00000173230","ENST00000340645","Transcript","missense_variant","missense_variant","4704/11187","4578/9780","1526/3259","Q/H","caA/caC","COSV61463442",null,-1,"GOLGB1","HGNC","HGNC:4429","protein_coding",null,"CCDS3004.1","ENSP00000341848","Q14789.174",null,"UPI000013F0A1","Q14789-1","NM_001366283.2;NM_004487.5",null,"P4",null,"tolerated(0.06)","probably_damaging(0.934)","13/22",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18887;PANTHER:PTHR18887:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GAAACTTGGCT","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM1253392","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PEX6",5190,"BI","GRCh38","chr6",42966656,42966656,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.1963T>G","p.Leu655Val","p.L655V","ENST00000304611","2024-10-17",202,179,22,253,null,null,"PEX6,missense_variant,p.L655V,ENST00000304611,NM_001316313.2&NM_000287.4,c.1963T>G,MODERATE,YES,tolerated(0.24),benign(0.007),-1;PEX6,missense_variant,p.L655V,ENST00000244546,,c.1963T>G,MODERATE,,tolerated(0.18),benign(0.026),-1;GNMT,downstream_gene_variant,,ENST00000372808,NM_001318856.2&NM_018960.6&NM_001318865.2,,MODIFIER,YES,,,1","C","ENSG00000124587","ENST00000304611","Transcript","missense_variant","missense_variant;splice_region_variant","1994/3444","1963/2943","655/980","L/V","Ttg/Gtg","COSV55101838;COSV55105900",null,-1,"PEX6","HGNC","HGNC:8859","protein_coding","YES","CCDS4877.1","ENSP00000303511","Q13608.180","A0A024RD09.45","UPI00001316EC","Q13608-1","NM_001316313.2;NM_000287.4","NM_000287.4","P1",null,"tolerated(0.24)","benign(0.007)","2024-10-17",null,"Gene3D:1.10.8.60;PANTHER:PTHR23077;PANTHER:PTHR23077:SF9",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"TGCCAAACTGC","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM3874155","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZRANB1",54764,"BI","GRCh38","chr10",124942855,124942855,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.362A>G","p.Gln121Arg","p.Q121R","ENST00000359653","2024-01-09",102,94,8,110,null,null,"ZRANB1,missense_variant,p.Q121R,ENST00000359653,NM_017580.3,c.362A>G,MODERATE,YES,tolerated(0.41),benign(0),1;AL731577.2,non_coding_transcript_exon_variant,,ENST00000508096,,n.529A>G,MODIFIER,YES,,,1;AL731577.1,downstream_gene_variant,,ENST00000449984,,,MODIFIER,YES,,,-1","G","ENSG00000019995","ENST00000359653","Transcript","missense_variant","missense_variant","733/5695","362/2127","121/708","Q/R","cAg/cGg","COSV62844215",null,1,"ZRANB1","HGNC","HGNC:18224","protein_coding","YES","CCDS7642.1","ENSP00000352676","Q9UGI0.174",null,"UPI000013C53E",null,"NM_017580.3","NM_017580.3","P1",null,"tolerated(0.41)","benign(0)","2024-01-09",null,"Gene3D:2.20.28.140;PANTHER:PTHR13367;PANTHER:PTHR13367:SF16",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCCTCAGTCCT","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM4012451","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DUSP16",80824,"BI","GRCh38","chr12",12487120,12487120,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.599T>G","p.Phe200Cys","p.F200C","ENST00000298573","2024-05-07",99,94,5,144,null,null,"DUSP16,missense_variant,p.F200C,ENST00000298573,NM_030640.3,c.599T>G,MODERATE,YES,deleterious(0),probably_damaging(0.913),-1;DUSP16,3_prime_UTR_variant,,ENST00000228862,,c.*3T>G,MODIFIER,,,,-1;DUSP16,non_coding_transcript_exon_variant,,ENST00000545864,,n.332T>G,MODIFIER,,,,-1;AC007619.1,intron_variant,,ENST00000544086,,n.66+1702A>C,MODIFIER,YES,,,1","C","ENSG00000111266","ENST00000298573","Transcript","missense_variant","missense_variant","1711/6661","599/1998","200/665","F/C","tTt/tGt","COSV53810106",null,-1,"DUSP16","HGNC","HGNC:17909","protein_coding","YES","CCDS8650.1","ENSP00000298573","Q9BY84.167","A0A024RAR2.51","UPI0000001BCE","Q9BY84-1","NM_030640.3","NM_030640.3","P1",null,"deleterious(0)","probably_damaging(0.913)","2024-05-07",null,"Gene3D:3.90.190.10;PDB-ENSP_mappings:4yr8.B;PDB-ENSP_mappings:4yr8.D;PDB-ENSP_mappings:4yr8.G;PDB-ENSP_mappings:4yr8.H;Pfam:PF00782;PROSITE_profiles:PS50054;PANTHER:PTHR10159;PANTHER:PTHR10159:SF343;SMART:SM00195;Superfamily:SSF52799;CDD:cd14646",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGATAAAGTCA","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM4040019","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MYH2",4620,"BI","GRCh38","chr17",10524863,10524863,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8589","TCGA-BR-8589-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"9bac4806-1772-4b40-b2d1-b55ed1674019","d5ee4fdc-25db-4fe2-b078-0406e217ee5a","c.4865A>C","p.Lys1622Thr","p.K1622T","ENST00000245503","34/40",166,130,35,166,null,null,"MYH2,missense_variant,p.K1622T,ENST00000397183,NM_001100112.1,c.4865A>C,MODERATE,YES,deleterious(0),probably_damaging(0.967),-1;MYH2,missense_variant,p.K1622T,ENST00000245503,NM_017534.6,c.4865A>C,MODERATE,,deleterious(0),probably_damaging(0.967),-1;MYH2,intron_variant,,ENST00000532183,,c.1975-3431A>C,MODIFIER,,,,-1;MYH2,intron_variant,,ENST00000622564,,c.1975-3431A>C,MODIFIER,,,,-1;AC005323.2,intron_variant,,ENST00000399342,,n.207-8461T>G,MODIFIER,YES,,,1;AC005323.2,intron_variant,,ENST00000581304,,n.144-8461T>G,MODIFIER,,,,1;MYHAS,intron_variant,,ENST00000587182,,n.156-42674T>G,MODIFIER,YES,,,1","G","ENSG00000125414","ENST00000245503","Transcript","missense_variant","missense_variant","4951/6044","4865/5826","1622/1941","K/T","aAg/aCg","COSV55449987",null,-1,"MYH2","HGNC","HGNC:7572","protein_coding",null,"CCDS11156.1","ENSP00000245503","Q9UKX2.190",null,"UPI000012FB6C","Q9UKX2-1","NM_017534.6","NM_017534.6","P1",null,"deleterious(0)","probably_damaging(0.967)","34/40",null,"Gene3D:1.20.5.370;Coiled-coils_(Ncoils):Coil;Pfam:PF01576;PANTHER:PTHR45615;PANTHER:PTHR45615:SF39",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TCTTCTTCTTG","e99d169a-7f93-49f4-9452-e98984798b6e","605e788a-17c3-45cb-84d6-966a782ca54c","a1867d3e-a006-4e04-8118-478792bdca4b",null,"COSM4063859","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAQR7",164091,"BI","GRCh38","chr1",25863505,25863505,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.335T>G","p.Leu112Arg","p.L112R","ENST00000374296","2024-02-02",70,63,7,51,null,null,"PAQR7,missense_variant,p.L112R,ENST00000374296,,c.335T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.745),-1;PAQR7,missense_variant,p.L112R,ENST00000675840,NM_178422.6,c.335T>G,MODERATE,,deleterious(0),possibly_damaging(0.745),-1;AUNIP,upstream_gene_variant,,ENST00000374298,NM_024037.3,,MODIFIER,,,,-1;AUNIP,upstream_gene_variant,,ENST00000538789,NM_001287490.1,,MODIFIER,YES,,,-1;AL033528.2,downstream_gene_variant,,ENST00000455431,,,MODIFIER,YES,,,1","C","ENSG00000182749","ENST00000374296","Transcript","missense_variant","missense_variant","1002/3023","335/1041","112/346","L/R","cTt/cGt","COSV65351848",null,-1,"PAQR7","HGNC","HGNC:23146","protein_coding","YES","CCDS267.1","ENSP00000363414","Q86WK9.125",null,"UPI000000D789",{"$nulls":3},"P1",null,"deleterious(0)","possibly_damaging(0.745)","2024-02-02",null,"Pfam:PF03006;PANTHER:PTHR20855;PANTHER:PTHR20855:SF41;Transmembrane_helices:TMhelix",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGGCAAGGACA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4030912","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TTF2",8458,"BI","GRCh38","chr1",117075074,117075074,"+","Missense_Mutation","SNP","G","G","A","rs1376576108",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.490G>A","p.Asp164Asn","p.D164N","ENST00000369466","2024-05-23",64,52,12,74,null,null,"TTF2,missense_variant,p.D164N,ENST00000369466,NM_003594.4,c.490G>A,MODERATE,YES,tolerated(0.08),benign(0.013),1;TTF2,non_coding_transcript_exon_variant,,ENST00000470935,,n.479G>A,MODIFIER,,,,1;TTF2,upstream_gene_variant,,ENST00000469638,,,MODIFIER,,,,1","A","ENSG00000116830","ENST00000369466","Transcript","missense_variant","missense_variant","511/9439","490/3489","164/1162","D/N","Gat/Aat","rs1376576108;COSV65632740;COSV65633548",null,1,"TTF2","HGNC","HGNC:12398","protein_coding","YES","CCDS892.1","ENSP00000358478","Q9UNY4.173",null,"UPI000013CCE7","Q9UNY4-1","NM_003594.4","NM_003594.4","P1",null,"tolerated(0.08)","benign(0.013)","2024-05-23",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"3.983e-06",0,0,0,0,0,0,0.0001632,0,0.0001632,"gnomAD_OTH","6.770389973098645e-06","2.4371200197492726e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"TTTTCGATCAA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4021104","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SMC6",79677,"BI","GRCh38","chr2",17683701,17683701,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.2741del","p.Lys914SerfsTer24","p.K914Sfs*24","ENST00000351948","23/27",158,141,17,179,null,null,"SMC6,frameshift_variant,p.K914Sfs*24,ENST00000448223,NM_001142286.2,c.2741del,HIGH,YES,,,-1;SMC6,frameshift_variant,p.K914Sfs*24,ENST00000351948,NM_024624.5,c.2741del,HIGH,,,,-1;SMC6,frameshift_variant,p.K914Sfs*24,ENST00000402989,,c.2741del,HIGH,,,,-1;SMC6,upstream_gene_variant,,ENST00000481708,,,MODIFIER,,,,-1","-","ENSG00000163029","ENST00000351948","Transcript","frameshift_variant","frameshift_variant","2951/5173","2741/3276","914/1091","K/X","aAg/ag",null,null,-1,"SMC6","HGNC","HGNC:20466","protein_coding",null,"CCDS1690.1","ENSP00000323439","Q96SB8.146","A0A2S1ZR87.13","UPI0000073C3B","Q96SB8-1","NM_024624.5",null,"P1",{"$nulls":3},"23/27",null,"Gene3D:3.40.50.300;Pfam:PF02463;PANTHER:PTHR19306;Superfamily:SSF52540",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"ATAAACTTTTTT","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KCNJ3",3760,"BI","GRCh38","chr2",154855167,154855167,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1363del","p.Thr455ProfsTer9","p.T455Pfs*9","ENST00000295101","2024-03-03",84,76,8,72,null,null,"KCNJ3,frameshift_variant,p.T455Pfs*9,ENST00000295101,NM_002239.4&NM_001260509.2,c.1363del,HIGH,YES,,,1;KCNJ3,frameshift_variant,p.T276Pfs*9,ENST00000651198,,c.826del,HIGH,,,,1;KCNJ3,3_prime_UTR_variant,,ENST00000544049,NM_001260508.1,c.*438del,MODIFIER,,,,1;KCNJ3,downstream_gene_variant,,ENST00000493505,,,MODIFIER,,,,1","-","ENSG00000162989","ENST00000295101","Transcript","frameshift_variant","frameshift_variant","1441/4628","1360/1506","454/501","K/X","Aaa/aa",null,null,1,"KCNJ3","HGNC","HGNC:6264","protein_coding","YES","CCDS2200.1","ENSP00000295101","P48549.179",null,"UPI000012D899","P48549-1","NM_002239.4;NM_001260509.2","NM_002239.4","P1",{"$nulls":3},"2024-03-03",null,"Prints:PR01327;PANTHER:PTHR11767:SF16;PANTHER:PTHR11767",{"$nulls":41},"HIGH",1,"deletion",1,3,null,null,"GTATCTAAAACC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["TTN",7273,"BI","GRCh38","chr2",178599407,178599407,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.51463T>C","p.Ser17155Pro","p.S17155P","ENST00000591111","240/313",78,64,14,72,null,null,"TTN,missense_variant,p.S18796P,ENST00000589042,NM_001267550.2,c.56386T>C,MODERATE,YES,,benign(0.161),-1;TTN,missense_variant,p.S17155P,ENST00000591111,,c.51463T>C,MODERATE,,,benign(0.161),-1;TTN,missense_variant,p.S16228P,ENST00000342992,NM_133378.4&NM_001256850.1,c.48682T>C,MODERATE,,,benign(0.077),-1;TTN,missense_variant,p.S9731P,ENST00000460472,NM_003319.4,c.29191T>C,MODERATE,,,benign(0.249),-1;TTN,missense_variant,p.S9923P,ENST00000342175,NM_133437.4,c.29767T>C,MODERATE,,,,-1;TTN,missense_variant,p.S9856P,ENST00000359218,NM_133432.3,c.29566T>C,MODERATE,,,benign(0.249),-1;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000671355,,n.161A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000419746,,n.3569-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.649+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+75771A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.487-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589234,,n.244-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589830,,n.86+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589907,,n.506+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.683+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.286-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.853-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.519+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.431+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000610290,,n.255-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.135+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.284-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.336+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.136-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626517,,n.247-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.160+1726A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.312-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.50-37167A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000629117,,n.587-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.638-187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.306-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.205-1151A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.502+1726A>G,MODIFIER,YES,,,1;TTN-AS1,upstream_gene_variant,,ENST00000589487,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000590932,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000591332,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592689,,,MODIFIER,,,,1","G","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","51688/104301","51463/103053","17155/34350","S/P","Tct/Cct","COSV60100865",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.161)","240/313",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"AACAGATTCAA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4088288;COSM4088289;COSM4088290;COSM4088291","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CFAP92",57501,"BI","GRCh38","chr3",128988840,128988840,"+","Missense_Mutation","SNP","C","C","T","rs375148155",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.341G>A","p.Arg114His","p.R114H","ENST00000265068","2024-03-08",64,54,10,65,null,null,"CFAP92,missense_variant,p.R114H,ENST00000265068,NM_020741.3,c.341G>A,MODERATE,,tolerated(0.21),benign(0.018),-1;CFAP92,missense_variant,p.R114H,ENST00000645291,NM_001348521.2&NM_001348520.2,c.341G>A,MODERATE,YES,tolerated(0.27),benign(0.019),-1;CFAP92,missense_variant,p.R114H,ENST00000511438,,c.341G>A,MODERATE,,tolerated(0.23),benign(0.018),-1;CFAP92,missense_variant,p.R2H,ENST00000515659,NM_001348522.1&NM_001348523.1,c.5G>A,MODERATE,,tolerated(0.13),benign(0.018),-1;CFAP92,non_coding_transcript_exon_variant,,ENST00000510149,,n.196G>A,MODIFIER,,,,-1","T","ENSG00000114656","ENST00000265068","Transcript","missense_variant","missense_variant","509/6034","341/1230","114/409","R/H","cGt/cAt","rs375148155",null,-1,"CFAP92","HGNC","HGNC:29231","protein_coding",null,"CCDS46905.1","ENSP00000265068","Q9ULG3.108",null,"UPI00001C1DE3","Q9ULG3-1","NM_020741.3",null,"A2",null,"tolerated(0.21)","benign(0.018)","2024-03-08",null,"PANTHER:PTHR33667;PANTHER:PTHR33667:SF11",{"$nulls":6},0.0002532,0,"2.006e-05",0.0001291,0,0,"5.565e-05",0,"8.851e-06",0,"3.268e-05",0.0002532,"AA","1.3522299923351966e-05","2.4316699636983685e-05",0,0,0,0,0,0,"1.5429699487867765e-05",0,0,{"$nulls":11},"MODERATE",null,"SNV",1,{"$nulls":3},"AACGACGCATC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM1038025","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ATP13A3",79572,"BI","GRCh38","chr3",194437406,194437406,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1904T>C","p.Met635Thr","p.M635T","ENST00000645319","19/34",116,101,15,84,null,null,"ATP13A3,missense_variant,p.M635T,ENST00000439040,,c.1904T>C,MODERATE,,deleterious(0),probably_damaging(0.998),-1;ATP13A3,missense_variant,p.M635T,ENST00000645319,NM_001367549.1,c.1904T>C,MODERATE,YES,deleterious(0),benign(0.129),-1;ATP13A3,missense_variant,p.M635T,ENST00000645538,NM_024524.3,c.1904T>C,MODERATE,,deleterious(0),probably_damaging(0.998),-1;ATP13A3,missense_variant,p.M608T,ENST00000642744,NM_001374836.1,c.1823T>C,MODERATE,,deleterious(0),benign(0.046),-1;ATP13A3,non_coding_transcript_exon_variant,,ENST00000645621,,n.3847T>C,MODIFIER,,,,-1","G","ENSG00000133657","ENST00000645319","Transcript","missense_variant","missense_variant","2429/7538","1904/3771","635/1256","M/T","aTg/aCg","COSV55461932",null,-1,"ATP13A3","HGNC","HGNC:24113","protein_coding","YES",null,"ENSP00000494937",null,"A0A2R8Y635.12","UPI00006C0765",null,"NM_001367549.1","NM_001367549.1",null,null,"deleterious(0)","benign(0.129)","19/34",null,"Gene3D:3.40.1110.10;Pfam:PF00702;PANTHER:PTHR45630;PANTHER:PTHR45630:SF8;SFLD:SFLDF00027;SFLD:SFLDS00003;Superfamily:SSF56784;Superfamily:SSF81660;Superfamily:SSF81665;TIGRFAM:TIGR01494;TIGRFAM:TIGR01657;CDD:cd07542",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CACTCATACGT","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4116183","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADH7",131,"BI","GRCh38","chr4",99420565,99420565,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.829A>G","p.Thr277Ala","p.T277A","ENST00000209665","2024-06-09",83,72,11,92,null,null,"ADH7,missense_variant,p.T265A,ENST00000437033,,c.793A>G,MODERATE,,tolerated(0.39),benign(0.001),-1;ADH7,missense_variant,p.T277A,ENST00000209665,NM_000673.4,c.829A>G,MODERATE,,tolerated(0.39),benign(0.001),-1;ADH7,missense_variant,p.T208A,ENST00000482593,,c.622A>G,MODERATE,,tolerated(0.36),benign(0.001),-1;ADH7,missense_variant,p.T285A,ENST00000476959,NM_001166504.1,c.853A>G,MODERATE,YES,tolerated(0.38),benign(0.001),-1;ADH7,upstream_gene_variant,,ENST00000485660,,,MODIFIER,,,,-1","C","ENSG00000196344","ENST00000209665","Transcript","missense_variant","missense_variant","1070/2289","829/1161","277/386","T/A","Acc/Gcc","COSV52921093",null,-1,"ADH7","HGNC","HGNC:256","protein_coding",null,"CCDS34034.1","ENSP00000209665","P40394.185",null,"UPI000016A4A6","P40394-1","NM_000673.4",{"$nulls":3},"tolerated(0.39)","benign(0.001)","2024-06-09",null,"PDB-ENSP_mappings:1agn.A;PDB-ENSP_mappings:1agn.B;PDB-ENSP_mappings:1agn.C;PDB-ENSP_mappings:1agn.D;PDB-ENSP_mappings:1d1s.A;PDB-ENSP_mappings:1d1s.B;PDB-ENSP_mappings:1d1s.C;PDB-ENSP_mappings:1d1s.D;PDB-ENSP_mappings:1d1t.A;PDB-ENSP_mappings:1d1t.B;PDB-ENSP_mappings:1d1t.C;PDB-ENSP_mappings:1d1t.D;Gene3D:3.40.50.720;Gene3D:3.90.180.10;Pfam:PF00107;PANTHER:PTHR43880;PANTHER:PTHR43880:SF2;Superfamily:SSF51735;CDD:cd08299",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AAAGGTGTATC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4120944;COSM4120945","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR2Y1",134083,"BI","GRCh38","chr5",180739620,180739620,"+","Missense_Mutation","SNP","C","C","T","rs367742243",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.439G>A","p.Ala147Thr","p.A147T","ENST00000307832","2024-01-01",42,34,8,37,null,null,"OR2Y1,missense_variant,p.A147T,ENST00000307832,NM_001001657.1,c.439G>A,MODERATE,YES,tolerated(0.4),benign(0.028),-1","T","ENSG00000174339","ENST00000307832","Transcript","missense_variant","missense_variant","480/1058","439/936","147/311","A/T","Gcc/Acc","rs367742243",null,-1,"OR2Y1","HGNC","HGNC:14837","protein_coding","YES","CCDS34323.1","ENSP00000312403","Q8NGV0.134",null,"UPI0000041BCE",null,"NM_001001657.1",null,"P1",null,"tolerated(0.4)","benign(0.028)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15433;PANTHER:PTHR26453:SF303;PANTHER:PTHR26453;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321",{"$nulls":6},0,0.0001163,"3.981e-06",0,0,0,0,0,"8.805e-06",0,0,0.0001163,"EA","1.351730043097632e-05",0,0,0,0,0,0,0,"3.086130163865164e-05",0,0,"3.086130163865164e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",{"$nulls":4},"GGAGGCGATAG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM3012650","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MDC1",9656,"BI","GRCh38","chr6",30703731,30703731,"+","Missense_Mutation","SNP","T","T","C","rs1562081241",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.5452A>G","p.Met1818Val","p.M1818V","ENST00000376406","2024-10-15",208,162,46,192,null,null,"MDC1,missense_variant,p.M1818V,ENST00000376406,NM_014641.3,c.5452A>G,MODERATE,YES,tolerated(1),benign(0),-1;MDC1,downstream_gene_variant,,ENST00000417033,,,MODIFIER,,,,-1;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,,n.351A>G,MODIFIER,,,,-1;MDC1,downstream_gene_variant,,ENST00000492462,,,MODIFIER,,,,-1;MDC1-AS1,intron_variant,,ENST00000442150,,n.127+538T>C,MODIFIER,YES,,,1","C","ENSG00000137337","ENST00000376406","Transcript","missense_variant","missense_variant","5492/6968","5452/6270","1818/2089","M/V","Atg/Gtg","rs1562081241;COSV64524867",null,-1,"MDC1","HGNC","HGNC:21163","protein_coding","YES","CCDS34384.1","ENSP00000365588","Q14676.198","A0A1U9XBC1.24","UPI00001AF453","Q14676-1","NM_014641.3","NM_014641.3","P1",null,"tolerated(1)","benign(0)","2024-10-15",null,"PANTHER:PTHR23196;PANTHER:PTHR23196:SF25;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",null,"ATCCATGGTAG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM3861492;COSM3861493","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF92",168374,"BI","GRCh38","chr7",65399098,65399099,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.990dup","p.His331ThrfsTer2","p.H331Tfs*2","ENST00000328747","2024-04-04",41,35,6,28,null,null,"ZNF92,frameshift_variant,p.H331Tfs*2,ENST00000328747,NM_152626.4,c.990dup,HIGH,YES,,,1;ZNF92,frameshift_variant,p.H299Tfs*2,ENST00000357512,NM_001287532.1,c.894dup,HIGH,,,,1;ZNF92,frameshift_variant,p.H262Tfs*2,ENST00000450302,NM_007139.4,c.783dup,HIGH,,,,1;ZNF92,frameshift_variant,p.H255Tfs*2,ENST00000431504,NM_001287533.2&NM_001287534.2,c.762dup,HIGH,,,,1","A","ENSG00000146757","ENST00000328747","Transcript","frameshift_variant","frameshift_variant","1127-1128/3165","984-985/1761","328-329/586","-/X","-/A",null,null,1,"ZNF92","HGNC","HGNC:13168","protein_coding","YES","CCDS34646.1","ENSP00000332595","Q03936.183","V9HVY7.45","UPI0000073CE6","Q03936-1","NM_152626.4","NM_152626.4","P4",{"$nulls":3},"2024-04-04",null,"Gene3D:3.30.160.60;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR23232;PANTHER:PTHR23232;PANTHER:PTHR23232;PANTHER:PTHR23232:SF68;PANTHER:PTHR23232:SF68;PANTHER:PTHR23232:SF68;SMART:SM00355;Superfamily:SSF57667",{"$nulls":41},"HIGH",1,"insertion",1,6,null,null,"ATTCTTAAAAA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["ARHGEF10",9639,"BI","GRCh38","chr8",1903398,1903398,"+","Missense_Mutation","SNP","C","C","T","rs141069028",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1843C>T","p.Arg615Cys","p.R615C","ENST00000398564","16/29",115,97,17,78,null,null,"ARHGEF10,missense_variant,p.R590C,ENST00000349830,NM_014629.4,c.1768C>T,MODERATE,,deleterious(0.03),probably_damaging(0.94),1;ARHGEF10,missense_variant,p.R614C,ENST00000518288,NM_001308153.2,c.1840C>T,MODERATE,,tolerated(0.12),probably_damaging(0.999),1;ARHGEF10,missense_variant,p.R615C,ENST00000398564,,c.1843C>T,MODERATE,YES,tolerated(0.12),probably_damaging(0.999),1;ARHGEF10,missense_variant,p.R552C,ENST00000520359,NM_001308152.2,c.1654C>T,MODERATE,,deleterious(0.04),probably_damaging(0.999),1;ARHGEF10,missense_variant,p.R263C,ENST00000522435,,c.787C>T,MODERATE,,deleterious(0.04),probably_damaging(0.999),1;ARHGEF10,missense_variant,p.R346C,ENST00000398560,,c.1036C>T,MODERATE,,tolerated(0.17),possibly_damaging(0.872),1;ARHGEF10,upstream_gene_variant,,ENST00000524212,,,MODIFIER,,,,1;AC019257.8,3_prime_UTR_variant,,ENST00000635855,,c.*1722C>T,MODIFIER,YES,,,1;AC019257.8,3_prime_UTR_variant,,ENST00000635773,,c.*1788C>T,MODIFIER,,,,1;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,,n.1492C>T,MODIFIER,,,,1;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,,n.1464C>T,MODIFIER,,,,1","T","ENSG00000104728","ENST00000398564","Transcript","missense_variant","missense_variant","1843/5480","1843/4110","615/1369","R/C","Cgc/Tgc","rs141069028",null,1,"ARHGEF10","HGNC","HGNC:14103","protein_coding","YES",null,"ENSP00000381571","O15013.168",null,"UPI0000D89824","O15013-1",null,null,"A2",null,"tolerated(0.12)","probably_damaging(0.999)","16/29",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR12877:SF14;PANTHER:PTHR12877;Gene3D:1.20.900.10;Superfamily:SSF48065",{"$nulls":6},0,0.0001163,"5.17e-05",0,"2.891e-05",0,0,0,"7.033e-05",0,0.0001307,0.0001307,"gnomAD_SAS",1.08148997242096E-4,"7.294659735634923e-05",0,"6.625150126637891e-05",0,0,0,0,0.000185167999006807,0,0,0.000185167999006807,"nfe",{"$nulls":9},"MODERATE",1,"SNV",5,null,null,1,"ATCAACGCTGT","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM3898614;COSM3898615;COSM3898616","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCN4",8840,"BI","GRCh38","chr8",133220714,133220714,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.488del","p.Pro163ArgfsTer11","p.P163Rfs*11","ENST00000250160","2024-03-05",113,99,14,59,null,null,"CCN4,frameshift_variant,p.P163Rfs*11,ENST00000250160,NM_003882.4,c.488del,HIGH,YES,,,1;CCN4,intron_variant,,ENST00000220856,NM_080838.3,c.350-4671del,MODIFIER,,,,1;CCN4,intron_variant,,ENST00000517423,NM_001204869.2,c.350-6692del,MODIFIER,,,,1;CCN4,intron_variant,,ENST00000519433,NM_001204870.2,c.70-6692del,MODIFIER,,,,1;CCN4,intron_variant,,ENST00000377862,,c.70-4671del,MODIFIER,,,,1","-","ENSG00000104415","ENST00000250160","Transcript","frameshift_variant","frameshift_variant","589/5190","483/1104","161/367","R/X","cgC/cg",null,null,1,"CCN4","HGNC","HGNC:12769","protein_coding","YES","CCDS6371.1","ENSP00000250160","O95388.172",null,"UPI00000359FE","O95388-1","NM_003882.4","NM_003882.4","P1",{"$nulls":3},"2024-03-05",null,"PROSITE_profiles:PS50184;PANTHER:PTHR11348:SF4;PANTHER:PTHR11348;PROSITE_patterns:PS01208;Pfam:PF00093;PIRSF:PIRSF036495;SMART:SM00214;Superfamily:SSF57603",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"AGTGCGCCCCCC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM1455009","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MYOF",26509,"BI","GRCh38","chr10",93359883,93359883,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.3070G>T","p.Val1024Phe","p.V1024F","ENST00000359263","29/54",157,141,16,160,null,null,"MYOF,missense_variant,p.V1024F,ENST00000359263,NM_013451.4,c.3070G>T,MODERATE,YES,deleterious(0),benign(0.378),-1;MYOF,missense_variant,p.V1011F,ENST00000358334,NM_133337.3,c.3031G>T,MODERATE,,deleterious(0),possibly_damaging(0.733),-1;MYOF,missense_variant,p.V399F,ENST00000463743,,c.1195G>T,MODERATE,,deleterious(0),possibly_damaging(0.733),-1","A","ENSG00000138119","ENST00000359263","Transcript","missense_variant","missense_variant","3210/6860","3070/6186","1024/2061","V/F","Gtc/Ttc","COSV63704886",null,-1,"MYOF","HGNC","HGNC:3656","protein_coding","YES","CCDS41551.1","ENSP00000352208","Q9NZM1.183",null,"UPI000012FBA1","Q9NZM1-1","NM_013451.4","NM_013451.4","P4",null,"deleterious(0)","benign(0.378)","29/54",null,"PDB-ENSP_mappings:2k2o.A;PANTHER:PTHR12546;PANTHER:PTHR12546:SF55;SMART:SM00694;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCGGACCAGCC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4016730;COSM4016731;COSM4016732","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HSPA12A",259217,"BI","GRCh38","chr10",116679623,116679623,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1166G>A","p.Arg389His","p.R389H","ENST00000369209","2024-10-12",115,104,11,113,null,null,"HSPA12A,missense_variant,p.R406H,ENST00000635765,NM_001330164.2,c.1217G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;HSPA12A,missense_variant,p.R405H,ENST00000674197,,c.1214G>A,MODERATE,,deleterious(0),probably_damaging(0.976),-1;HSPA12A,missense_variant,p.R306H,ENST00000674401,,c.917G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;HSPA12A,missense_variant,p.R306H,ENST00000674167,,c.917G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;HSPA12A,missense_variant,p.R389H,ENST00000369209,NM_025015.3,c.1166G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;HSPA12A,missense_variant,p.R360H,ENST00000674205,,c.1079G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;HSPA12A,missense_variant,p.R306H,ENST00000674459,,c.917G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;HSPA12A,missense_variant,p.R175H,ENST00000674344,,c.524G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;HSPA12A,downstream_gene_variant,,ENST00000480802,,,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674372,,n.1199G>A,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674375,,n.1176G>A,MODIFIER,,,,-1;HSPA12A,3_prime_UTR_variant,,ENST00000674491,,c.*1123G>A,MODIFIER,,,,-1;HSPA12A,3_prime_UTR_variant,,ENST00000674505,,c.*327G>A,MODIFIER,,,,-1;HSPA12A,3_prime_UTR_variant,,ENST00000674394,,c.*613G>A,MODIFIER,,,,-1;HSPA12A,3_prime_UTR_variant,,ENST00000674473,,c.*894G>A,MODIFIER,,,,-1;HSPA12A,3_prime_UTR_variant,,ENST00000674347,,c.*118G>A,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674223,,n.1219G>A,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674389,,n.658G>A,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674291,,n.478G>A,MODIFIER,,,,-1;HSPA12A,non_coding_transcript_exon_variant,,ENST00000674245,,n.457G>A,MODIFIER,,,,-1;HSPA12A,upstream_gene_variant,,ENST00000674431,,,MODIFIER,,,,-1;HSPA12A,downstream_gene_variant,,ENST00000674468,,,MODIFIER,,,,-1","T","ENSG00000165868","ENST00000369209","Transcript","missense_variant","missense_variant","1263/5714","1166/2028","389/675","R/H","cGc/cAc","COSV65022488",null,-1,"HSPA12A","HGNC","HGNC:19022","protein_coding",null,"CCDS41569.1","ENSP00000358211","O43301.139",null,"UPI00001B3DE3",null,"NM_025015.3","NM_025015.3","A1",null,"deleterious(0)","probably_damaging(0.993)","2024-10-12",null,"CDD:cd11735;PANTHER:PTHR14187;PANTHER:PTHR14187:SF46;Gene3D:3.90.640.10;Gene3D:3.30.420.40;Superfamily:SSF53067",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TTTTGCGAGAC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4011954","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IPO8",10526,"BI","GRCh38","chr12",30669257,30669258,"+","Frame_Shift_Ins","INS","-","-","A","rs1438426784",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1069dup","p.Ser357PhefsTer6","p.S357Ffs*6","ENST00000256079","2024-10-25",82,72,10,122,null,null,"IPO8,frameshift_variant,p.S357Ffs*6,ENST00000256079,NM_006390.4,c.1069dup,HIGH,YES,,,-1;IPO8,frameshift_variant,p.S152Ffs*6,ENST00000544829,NM_001190995.1,c.454dup,HIGH,,,,-1;IPO8,downstream_gene_variant,,ENST00000542464,,,MODIFIER,,,,-1","A","ENSG00000133704","ENST00000256079","Transcript","frameshift_variant","frameshift_variant","1291-1292/5208","1069-1070/3114","357/1037","S/FX","tct/tTct","rs1438426784",null,-1,"IPO8","HGNC","HGNC:9853","protein_coding","YES","CCDS8719.1","ENSP00000256079","O15397.169",null,"UPI000013CEE9","O15397-1","NM_006390.4","NM_006390.4","P1",{"$nulls":3},"2024-10-25",null,"Gene3D:1.25.10.10;Pfam:PF08506;PANTHER:PTHR10997;PANTHER:PTHR10997:SF26;Superfamily:SSF48371",{"$nulls":19},"7.4394802140886895e-06","2.724939986364916e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"insertion",1,{"$nulls":3},"TCACAGAAAAA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM1562153","N","Unknown",{"$nulls":3},"pindel;varscan2"]
["ANO4",121601,"BI","GRCh38","chr12",100942521,100942521,"+","Missense_Mutation","SNP","C","C","A","rs746948652",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.442C>A","p.Gln148Lys","p.Q148K","ENST00000392977","2024-05-28",139,115,24,161,null,null,"ANO4,missense_variant,p.Q148K,ENST00000392977,NM_001286615.2&NM_001286616.1,c.442C>A,MODERATE,,tolerated(0.06),benign(0.03),1;ANO4,missense_variant,p.Q113K,ENST00000392979,NM_178826.4,c.337C>A,MODERATE,,tolerated(0.07),benign(0.117),1;ANO4,missense_variant,p.Q314K,ENST00000644049,,c.940C>A,MODERATE,YES,deleterious(0.04),benign(0.209),1;ANO4,missense_variant,p.Q314K,ENST00000549155,,c.940C>A,MODERATE,,tolerated(0.06),benign(0.351),1","A","ENSG00000151572","ENST00000392977","Transcript","missense_variant","missense_variant","834/4033","442/2868","148/955","Q/K","Caa/Aaa","rs746948652;COSV54597531",null,1,"ANO4","HGNC","HGNC:23837","protein_coding",null,"CCDS66445.1","ENSP00000376703","Q32M45.121",null,"UPI0000577AB6","Q32M45-1","NM_001286615.2;NM_001286616.1","NM_001286615.2","P4",null,"tolerated(0.06)","benign(0.03)","2024-05-28",null,"PANTHER:PTHR12308;PANTHER:PTHR12308:SF28;Pfam:PF16178",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"GATTGCAAATG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4037943;COSM4037944","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AP1G2",8906,"BI","GRCh38","chr14",23559817,23559817,"+","Missense_Mutation","SNP","C","C","T","rs1427295596",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.2290G>A","p.Asp764Asn","p.D764N","ENST00000308724","21/21",41,35,6,38,null,null,"AP1G2,missense_variant,p.D764N,ENST00000308724,NM_001354674.2&NM_001282475.2&NM_001354677.2&NM_001354681.2,c.2290G>A,MODERATE,YES,tolerated(0.92),benign(0),-1;AP1G2,missense_variant,p.D764N,ENST00000397120,NM_001354675.2&NM_001354673.2&NM_001282474.2&NM_003917.5,c.2290G>A,MODERATE,,tolerated(0.92),benign(0),-1;THTPA,3_prime_UTR_variant,,ENST00000288014,NM_024328.6,c.*977C>T,MODIFIER,YES,,,1;THTPA,downstream_gene_variant,,ENST00000404535,NM_001126339.3,,MODIFIER,,,,1;ZFHX2,upstream_gene_variant,,ENST00000412565,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000554477,,,MODIFIER,,,,-1;THTPA,downstream_gene_variant,,ENST00000554789,NM_001256062.2,,MODIFIER,,,,1;THTPA,downstream_gene_variant,,ENST00000554970,NM_001256322.2&NM_001256323.2,,MODIFIER,,,,1;THTPA,downstream_gene_variant,,ENST00000556015,NM_001256321.2,,MODIFIER,,,,1;THTPA,downstream_gene_variant,,ENST00000556545,,,MODIFIER,,,,1;THTPA,downstream_gene_variant,,ENST00000557630,,,MODIFIER,,,,1;AP1G2,downstream_gene_variant,,ENST00000555118,,,MODIFIER,,,,-1;THTPA,downstream_gene_variant,,ENST00000555446,,,MODIFIER,,,,1;AP1G2,downstream_gene_variant,,ENST00000555510,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000556277,,,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000554554,,n.2706G>A,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,,n.2463G>A,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,,n.2349G>A,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,,n.2230G>A,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000554892,,n.408G>A,MODIFIER,,,,-1;AP1G2,non_coding_transcript_exon_variant,,ENST00000557391,,n.331G>A,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000554977,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000554982,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000555789,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000555974,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000556152,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000556741,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000556966,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000557132,,,MODIFIER,,,,-1;AP1G2,downstream_gene_variant,,ENST00000557162,,,MODIFIER,,,,-1;ZFHX2-AS1,non_coding_transcript_exon_variant,,ENST00000553985,,n.1361C>T,MODIFIER,,,,1;AL135999.1,upstream_gene_variant,,ENST00000555968,,,MODIFIER,YES,,,1;ZFHX2-AS1,downstream_gene_variant,,ENST00000556354,,,MODIFIER,,,,1","T","ENSG00000213983","ENST00000308724","Transcript","missense_variant","missense_variant","3046/3298","2290/2358","764/785","D/N","Gac/Aac","rs1427295596",null,-1,"AP1G2","HGNC","HGNC:556","protein_coding","YES","CCDS9602.1","ENSP00000312442","O75843.171",null,"UPI0000124FE8",null,"NM_001354674.2;NM_001282475.2;NM_001354677.2;NM_001354681.2",null,"P1",null,"tolerated(0.92)","benign(0)","21/21",null,"PDB-ENSP_mappings:2e9g.A;PDB-ENSP_mappings:2ymt.A;PDB-ENSP_mappings:3zhf.A;PDB-ENSP_mappings:4bcx.A;PROSITE_profiles:PS50180;PANTHER:PTHR22780:SF28;PANTHER:PTHR22780;Gene3D:2.60.40.1230;PIRSF:PIRSF037094;Pfam:PF02883;SMART:SM00809;Superfamily:SSF49348",{"$nulls":19},"1.3524099813366774e-05",0,0,0,0,0,0,0,"3.086320066358894e-05",0,0,"3.086320066358894e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"GTGGTCGTAGG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["SYNM",23336,"BI","GRCh38","chr15",99129615,99129615,"+","Missense_Mutation","SNP","G","G","A","rs782620136",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1255G>A","p.Val419Ile","p.V419I","ENST00000336292","2024-04-04",145,112,32,142,null,null,"SYNM,missense_variant,p.V419I,ENST00000336292,NM_145728.3,c.1255G>A,MODERATE,YES,tolerated(0.27),benign(0.007),1;SYNM,missense_variant,p.V419I,ENST00000594047,NM_015286.6,c.1255G>A,MODERATE,,tolerated(0.3),benign(0.005),1;SYNM,missense_variant,p.V133I,ENST00000560674,,c.397G>A,MODERATE,,tolerated(0.28),benign(0),1;SYNM,intron_variant,,ENST00000328642,,c.1006+2823G>A,MODIFIER,,,,1;AC036108.2,non_coding_transcript_exon_variant,,ENST00000566974,,n.1779C>T,MODIFIER,YES,,,-1","A","ENSG00000182253","ENST00000336292","Transcript","missense_variant","missense_variant","1375/7353","1255/4698","419/1565","V/I","Gtc/Atc","rs782620136;COSV60370863",null,1,"SYNM","HGNC","HGNC:24466","protein_coding","YES","CCDS73787.1","ENSP00000336775","O15061.160",null,"UPI0000DC3AA9",null,"NM_145728.3","NM_145728.3","P3",null,"tolerated(0.27)","benign(0.007)","2024-04-04",null,"PANTHER:PTHR47136",{"$nulls":8},"1.204e-05",0,0,"9.938e-05",0,0,"1.77e-05",0,0,"9.938e-05","gnomAD_ASJ","6.761049917258788e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AAGCCGTCAGC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4058096;COSM4058097","N","Unknown",{"$nulls":3},"muse;varscan2"]
["CORO6",84940,"BI","GRCh38","chr17",29621240,29621240,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.182T>A","p.Val61Asp","p.V61D","ENST00000345068","2024-02-11",80,72,8,50,null,null,"CORO6,missense_variant,p.V61D,ENST00000345068,,c.182T>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;CORO6,missense_variant,p.V61D,ENST00000388767,NM_032854.3,c.182T>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CORO6,missense_variant,p.V61D,ENST00000580212,,c.182T>A,MODERATE,,deleterious(0),probably_damaging(0.92),-1;CORO6,missense_variant,p.V61D,ENST00000584969,,c.182T>A,MODERATE,,deleterious(0),probably_damaging(0.983),-1;CORO6,missense_variant,p.V61D,ENST00000492276,,c.182T>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CORO6,intron_variant,,ENST00000584602,,c.-121+1448T>A,MODIFIER,,,,-1;SSH2,downstream_gene_variant,,ENST00000269033,NM_033389.3,,MODIFIER,,,,-1;SSH2,downstream_gene_variant,,ENST00000540801,NM_001282129.2,,MODIFIER,YES,,,-1;CORO6,intron_variant,,ENST00000577909,,n.220+1448T>A,MODIFIER,,,,-1;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,,n.396T>A,MODIFIER,,,,-1;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,,n.339T>A,MODIFIER,,,,-1;CORO6,upstream_gene_variant,,ENST00000469090,NM_001351302.1,,MODIFIER,,,,-1;CORO6,upstream_gene_variant,,ENST00000480954,NM_001351301.1,,MODIFIER,,,,-1;CORO6,upstream_gene_variant,,ENST00000579388,,,MODIFIER,,,,-1;ABHD15-AS1,intron_variant,,ENST00000581474,,n.153+60541A>T,MODIFIER,YES,,,1;AC104564.2,downstream_gene_variant,,ENST00000582367,,,MODIFIER,YES,,,-1","T","ENSG00000167549","ENST00000345068","Transcript","missense_variant","missense_variant","396/2603","182/1419","61/472","V/D","gTc/gAc","COSV52173188",null,-1,"CORO6","HGNC","HGNC:21356","protein_coding","YES","CCDS11252.2","ENSP00000344562","Q6QEF8.130",null,"UPI0000DA4C55","Q6QEF8-5",{"$nulls":4},"deleterious(0)","probably_damaging(1)","2024-02-11",null,"Gene3D:2.130.10.10;Pfam:PF08953;PANTHER:PTHR10856;PANTHER:PTHR10856:SF23;SMART:SM01166;Superfamily:SSF50978",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GCAGGACGATG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4065210","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DSG2",1829,"BI","GRCh38","chr18",31536273,31536273,"+","Missense_Mutation","SNP","C","C","A","rs759612298",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.1495C>A","p.Leu499Met","p.L499M","ENST00000261590","2024-11-15",82,74,8,87,null,null,"DSG2,missense_variant,p.L499M,ENST00000261590,NM_001943.5,c.1495C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.982),1","A","ENSG00000046604","ENST00000261590","Transcript","missense_variant","missense_variant","1570/5697","1495/3357","499/1118","L/M","Ctg/Atg","rs759612298;COSV55199669",null,1,"DSG2","HGNC","HGNC:3049","protein_coding","YES","CCDS42423.1","ENSP00000261590","Q14126.192",null,"UPI0000048E38",null,"NM_001943.5","NM_001943.5","P1",null,"deleterious(0.01)","probably_damaging(0.982)","2024-11-15",null,"Gene3D:2.60.40.60;PDB-ENSP_mappings:5erd.A;PDB-ENSP_mappings:5erd.B;PDB-ENSP_mappings:5j5j.A;PROSITE_profiles:PS50268;PANTHER:PTHR24025;PANTHER:PTHR24025:SF1;Superfamily:SSF49313",{"$nulls":8},"4.009e-06",0,0,0,0,0,"8.838e-06",0,0,"8.838e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCACACTGATA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4071795","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["AP3D1",8943,"BI","GRCh38","chr19",2102261,2102261,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.3374A>G","p.Asn1125Ser","p.N1125S","ENST00000345016","30/30",145,136,9,90,null,null,"AP3D1,missense_variant,p.N1187S,ENST00000643116,NM_001374799.1&NM_001261826.3,c.3560A>G,MODERATE,YES,tolerated(0.51),benign(0.019),-1;AP3D1,missense_variant,p.N1125S,ENST00000345016,NM_003938.8,c.3374A>G,MODERATE,,tolerated(0.45),benign(0.001),-1;AP3D1,missense_variant,p.N917S,ENST00000644728,,c.2750A>G,MODERATE,,tolerated(0.42),benign(0.001),-1;AP3D1,3_prime_UTR_variant,,ENST00000586370,,c.*13A>G,MODIFIER,,,,-1;AP3D1,3_prime_UTR_variant,,ENST00000589369,,c.*13A>G,MODIFIER,,,,-1;IZUMO4,downstream_gene_variant,,ENST00000395296,NM_001363588.2,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000395301,NM_001039846.2,,MODIFIER,YES,,,1;IZUMO4,downstream_gene_variant,,ENST00000395307,NM_001031735.3,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000588003,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000610800,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000620263,,,MODIFIER,,,,1;AP3D1,non_coding_transcript_exon_variant,,ENST00000585652,,n.3167A>G,MODIFIER,,,,-1;AP3D1,non_coding_transcript_exon_variant,,ENST00000589223,,n.2085A>G,MODIFIER,,,,-1;AP3D1,non_coding_transcript_exon_variant,,ENST00000591650,,n.797A>G,MODIFIER,,,,-1;IZUMO4,downstream_gene_variant,,ENST00000478879,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000481489,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000497445,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000498554,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000590985,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000591894,,,MODIFIER,,,,1;IZUMO4,downstream_gene_variant,,ENST00000593185,,,MODIFIER,,,,1","C","ENSG00000065000","ENST00000345016","Transcript","missense_variant","missense_variant","3597/4870","3374/3462","1125/1153","N/S","aAc/aGc","COSV61428922",null,-1,"AP3D1","HGNC","HGNC:568","protein_coding",null,"CCDS42459.1","ENSP00000344055","O14617.194",null,"UPI0000125031","O14617-1","NM_003938.8",null,"A2",null,"tolerated(0.45)","benign(0.001)","30/30",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CAGAGTTCTCA","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4076109;COSM4076110;COSM4076111","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TEAD2",8463,"BI","GRCh38","chr19",49347216,49347216,"+","Frame_Shift_Del","DEL","G","G","-","rs763321097",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.883del","p.His295MetfsTer12","p.H295Mfs*12","ENST00000311227","2024-09-12",194,116,78,178,null,null,"TEAD2,frameshift_variant,p.H298Mfs*12,ENST00000377214,,c.892del,HIGH,,,,-1;TEAD2,frameshift_variant,p.H299Mfs*12,ENST00000598810,NM_001256661.2,c.895del,HIGH,YES,,,-1;TEAD2,frameshift_variant,p.H299Mfs*12,ENST00000593945,NM_001256660.2,c.895del,HIGH,,,,-1;TEAD2,frameshift_variant,p.H298Mfs*12,ENST00000601519,NM_001256659.2&NM_001256658.2,c.892del,HIGH,,,,-1;TEAD2,frameshift_variant,p.H295Mfs*12,ENST00000311227,NM_003598.2,c.883del,HIGH,,,,-1;TEAD2,frameshift_variant,p.H167Mfs*12,ENST00000539846,NM_001256662.2,c.499del,HIGH,,,,-1;TEAD2,downstream_gene_variant,,ENST00000596757,,,MODIFIER,,,,-1;TEAD2,downstream_gene_variant,,ENST00000598397,,,MODIFIER,,,,-1;CD37,downstream_gene_variant,,ENST00000600121,,,MODIFIER,,,,1;TEAD2,downstream_gene_variant,,ENST00000598823,,,MODIFIER,,,,-1","-","ENSG00000074219","ENST00000311227","Transcript","frameshift_variant","frameshift_variant","974/2164","883/1344","295/447","H/X","Cat/at","rs763321097",null,-1,"TEAD2","HGNC","HGNC:11715","protein_coding",null,"CCDS12761.1","ENSP00000310701","Q15562.180",null,"UPI0000136B7D","Q15562-1","NM_003598.2",null,"P2",{"$nulls":3},"2024-09-12",null,"PDB-ENSP_mappings:3l15.A;PDB-ENSP_mappings:3l15.B;PDB-ENSP_mappings:5dq8.A;PDB-ENSP_mappings:5dq8.B;PDB-ENSP_mappings:5dqe.A;PDB-ENSP_mappings:5dqe.B;PDB-ENSP_mappings:5emv.A;PDB-ENSP_mappings:5emv.B;PDB-ENSP_mappings:5hgu.A;PDB-ENSP_mappings:5hgu.B;PDB-ENSP_mappings:6e5g.A;PDB-ENSP_mappings:6e5g.B;PDB-ENSP_mappings:6vah.A;PDB-ENSP_mappings:6vah.B;PANTHER:PTHR11834:SF5;PANTHER:PTHR11834;Gene3D:2.70.50.80;PIRSF:PIRSF002603;Pfam:PF17725",{"$nulls":8},"1.214e-05",0,0,0,0,0,"2.709e-05",0,0,"2.709e-05","gnomAD_NFE","6.797170044592349e-06","2.4497800040990114e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",null,"deletion",1,{"$nulls":3},"AGGCATGGGGGG","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM253110","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MIEF1",54471,"BI","GRCh38","chr22",39511981,39511981,"+","Missense_Mutation","SNP","C","C","T","rs144526373",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.277C>T","p.Arg93Trp","p.R93W","ENST00000325301","2024-04-06",122,99,23,92,null,null,"MIEF1,missense_variant,p.R93W,ENST00000325301,NM_019008.5,c.277C>T,MODERATE,,deleterious(0.01),probably_damaging(0.985),1;MIEF1,missense_variant,p.R93W,ENST00000404569,,c.277C>T,MODERATE,,deleterious(0.01),probably_damaging(0.985),1;MIEF1,missense_variant,p.R93W,ENST00000402881,NM_001304564.1,c.277C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;MIEF1,downstream_gene_variant,,ENST00000434364,,,MODIFIER,,,,1;MIEF1,missense_variant,p.R93W,ENST00000433117,,c.277C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;MIEF1,missense_variant,p.R93W,ENST00000428069,,c.277C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1","T","ENSG00000100335","ENST00000325301","Transcript","missense_variant","missense_variant","764/5688","277/1392","93/463","R/W","Cgg/Tgg","rs144526373",null,1,"MIEF1","HGNC","HGNC:25979","protein_coding",null,"CCDS13995.1","ENSP00000327124","Q9NQG6.140","A0A024R1L3.46","UPI000006FEB4","Q9NQG6-1","NM_019008.5",null,"P1",null,"deleterious(0.01)","probably_damaging(0.985)","2024-04-06",null,"PANTHER:PTHR16451;PANTHER:PTHR16451:SF12",0.0002,0,0,0,1E-3,0,0,0.0002326,"6.374e-05",0.0001231,"5.783e-05",0,0,0,0.0001057,0,0,1E-3,"EUR","2.7029600460082293e-05",0,0,0,0,0,0,0,"6.170930282678455e-05",0,0,"6.170930282678455e-05","nfe",{"$nulls":9},"MODERATE",null,"SNV",1,{"$nulls":3},"TGAGCCGGTCC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4104237","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AFF2",2334,"BI","GRCh38","chrX",148991285,148991285,"+","Missense_Mutation","SNP","G","G","A","rs782158550",null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.3889G>A","p.Val1297Ile","p.V1297I","ENST00000370460","21/21",178,135,42,192,null,null,"AFF2,missense_variant,p.V1297I,ENST00000370460,NM_002025.4&NM_001169123.2,c.3889G>A,MODERATE,YES,tolerated(0.58),benign(0.239),1;AFF2,missense_variant,p.V938I,ENST00000286437,NM_001170628.1,c.2812G>A,MODERATE,,tolerated(0.6),benign(0.2),1;AFF2,missense_variant,p.V1262I,ENST00000342251,NM_001169122.2,c.3784G>A,MODERATE,,tolerated(0.59),benign(0.329),1;AFF2,missense_variant,p.V1262I,ENST00000370457,NM_001169124.2&NM_001169125.2,c.3784G>A,MODERATE,,tolerated(0.59),benign(0.329),1;AFF2,non_coding_transcript_exon_variant,,ENST00000671877,,n.2902G>A,MODIFIER,,,,1","A","ENSG00000155966","ENST00000370460","Transcript","missense_variant","missense_variant","4370/13748","3889/3936","1297/1311","V/I","Gtt/Att","rs782158550;COSV53977919",null,1,"AFF2","HGNC","HGNC:3776","protein_coding","YES","CCDS14684.1","ENSP00000359489","P51816.159",null,"UPI000049E130","P51816-1","NM_002025.4;NM_001169123.2","NM_002025.4","P1",null,"tolerated(0.58)","benign(0.239)","21/21",null,"PANTHER:PTHR10528;PANTHER:PTHR10528:SF18;Pfam:PF18876",{"$nulls":8},"2.218e-05","7.717e-05",0,0,0,0,"3.713e-05",0,0,"7.717e-05","gnomAD_AFR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"GCTACGTTCGC","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4107374;COSM4107375;COSM4107376","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["F8",2157,"BI","GRCh38","chrX",154930461,154930461,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-6452","TCGA-BR-6452-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c8e961b4-e324-40a2-89f6-736ec3845bc9","0f603726-fdae-4738-9e1c-f387a61d8e84","c.3329A>C","p.Asn1110Thr","p.N1110T","ENST00000360256","14/26",109,99,10,114,null,null,"F8,missense_variant,p.N1110T,ENST00000360256,NM_000132.4,c.3329A>C,MODERATE,YES,tolerated(0.07),benign(0.026),-1;F8,3_prime_UTR_variant,,ENST00000647125,,c.*2995A>C,MODIFIER,,,,-1","G","ENSG00000185010","ENST00000360256","Transcript","missense_variant","missense_variant","3500/9032","3329/7056","1110/2351","N/T","aAt/aCt","COSV64274094",null,-1,"F8","HGNC","HGNC:3546","protein_coding","YES","CCDS35457.1","ENSP00000353393","P00451.254",null,"UPI000012A416","P00451-1","NM_000132.4","NM_000132.4","P1",null,"tolerated(0.07)","benign(0.026)","14/26",null,"PDB-ENSP_mappings:6mf2.A;PIRSF:PIRSF000354;PANTHER:PTHR24543;PANTHER:PTHR24543:SF249",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTGGATTTTGT","1e61ba14-e606-4688-81ef-0eb810344645","75a40213-9bdb-4beb-bd87-c27aabb92f89","27988b3e-cde1-4f4b-82a1-6d8ad08db8e9",null,"COSM4108236;COSM4108237","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HOXD10",3236,"BI","GRCh38","chr2",176116869,176116869,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.41del","p.Leu14Ter","p.L14*","ENST00000249501","2024-01-02",161,104,56,151,null,null,"HOXD10,frameshift_variant,p.L14*,ENST00000249501,NM_002148.4,c.41del,HIGH,YES,,,1;HOXD10,intron_variant,,ENST00000490088,,n.570-2080del,MODIFIER,,,,1;HOXD10,intron_variant,,ENST00000549469,,n.617-2080del,MODIFIER,,,,1;HOXD-AS2,downstream_gene_variant,,ENST00000440016,,,MODIFIER,YES,,,-1","-","ENSG00000128710","ENST00000249501","Transcript","frameshift_variant","frameshift_variant","92/1785","36/1023","12/340","T/X","acT/ac",null,null,1,"HOXD10","HGNC","HGNC:5133","protein_coding","YES","CCDS2266.1","ENSP00000249501","P28358.178",null,"UPI000013CC87",null,"NM_002148.4","NM_002148.4","P1",{"$nulls":3},"2024-01-02",null,"PANTHER:PTHR45874;PANTHER:PTHR45874:SF5",{"$nulls":41},"HIGH",1,"deletion",1,5,null,1,"TAATACTTTTTT","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,"COSM4691024","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PCDHB10",56126,"BI","GRCh38","chr5",141193865,141193865,"+","Missense_Mutation","SNP","C","C","T","rs781877019",null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.1313C>T","p.Thr438Met","p.T438M","ENST00000239446","2024-01-01",148,49,99,164,null,null,"PCDHB10,missense_variant,p.T438M,ENST00000239446,NM_018930.4,c.1313C>T,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.934),1;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.5,,MODIFIER,YES,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.72+47808G>A,MODIFIER,,,,-1;AC244517.4,intron_variant,,ENST00000624549,,n.131+7401G>A,MODIFIER,YES,,,-1;AC244517.7,intron_variant,,ENST00000625144,,n.45+179G>A,MODIFIER,YES,,,-1","T","ENSG00000120324","ENST00000239446","Transcript","missense_variant","missense_variant","1513/3295","1313/2403","438/800","T/M","aCg/aTg","rs781877019;COSV99503524",null,1,"PCDHB10","HGNC","HGNC:8681","protein_coding","YES","CCDS4252.1","ENSP00000239446","Q9UN67.172",null,"UPI0000048F2E",null,"NM_018930.4","NM_018930.4","P1",null,"deleterious_low_confidence(0.01)","probably_damaging(0.934)","2024-01-01",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF54;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":8},"1.591e-05",0,"2.894e-05",0,0,0,"1.759e-05",1.63E-4,0,1.63E-4,"gnomAD_OTH",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"CATAACGGTCC","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADCY8",114,"BI","GRCh38","chr8",130780466,130780466,"+","Missense_Mutation","SNP","C","C","T","rs201701737",null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.3680G>A","p.Arg1227Gln","p.R1227Q","ENST00000286355","18/18",186,136,50,133,null,null,"ADCY8,missense_variant,p.R1227Q,ENST00000286355,NM_001115.3,c.3680G>A,MODERATE,YES,deleterious_low_confidence(0.02),possibly_damaging(0.885),-1;ADCY8,missense_variant,p.R1096Q,ENST00000377928,,c.3287G>A,MODERATE,,deleterious_low_confidence(0.04),benign(0.006),-1","T","ENSG00000155897","ENST00000286355","Transcript","missense_variant","missense_variant","4256/4421","3680/3756","1227/1251","R/Q","cGg/cAg","rs201701737;COSV53902646",null,-1,"ADCY8","HGNC","HGNC:239","protein_coding","YES","CCDS6363.1","ENSP00000286355","P40145.179","A0A0K0K1K3.37","UPI000012887C",null,"NM_001115.3","NM_001115.3","P1",null,"deleterious_low_confidence(0.02)","possibly_damaging(0.885)","18/18",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"2.389e-05",0,0,0,1.088E-4,0,"3.524e-05",0,0,1.088E-4,"gnomAD_EAS","4.065149914822541e-05",1.21921002573799E-4,0,"6.641870277235284e-05",0,0,0,0,0,0,0,1.21921002573799E-4,"afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCCGCCGGTTG","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,"COSM5472502","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC2A6",11182,"BI","GRCh38","chr9",133473421,133473421,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.1216A>G","p.Ile406Val","p.I406V","ENST00000371899","2024-08-10",12,7,5,15,null,null,"SLC2A6,missense_variant,p.I406V,ENST00000371899,NM_017585.4,c.1216A>G,MODERATE,YES,tolerated(0.19),benign(0.157),-1;SLC2A6,intron_variant,,ENST00000371897,NM_001145099.2,c.1037-171A>G,MODIFIER,,,,-1;CACFD1,downstream_gene_variant,,ENST00000291722,NM_001135775.3,,MODIFIER,,,,1;CACFD1,downstream_gene_variant,,ENST00000316948,NM_017586.5,,MODIFIER,,,,1;SLC2A6,downstream_gene_variant,,ENST00000414172,,,MODIFIER,,,,-1;SLC2A6,downstream_gene_variant,,ENST00000432868,,,MODIFIER,,,,-1;CACFD1,downstream_gene_variant,,ENST00000540581,NM_001242369.1,,MODIFIER,YES,,,1;CACFD1,downstream_gene_variant,,ENST00000542192,NM_001242370.1,,MODIFIER,,,,1;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,,n.2183A>G,MODIFIER,,,,-1;CACFD1,downstream_gene_variant,,ENST00000474734,,,MODIFIER,,,,1","C","ENSG00000160326","ENST00000371899","Transcript","missense_variant","missense_variant","1256/2491","1216/1524","406/507","I/V","Atc/Gtc","COSV99390057",null,-1,"SLC2A6","HGNC","HGNC:11011","protein_coding","YES","CCDS6975.1","ENSP00000360966","Q9UGQ3.170",null,"UPI0000001BE8","Q9UGQ3-1","NM_017585.4","NM_017585.4","P1",null,"tolerated(0.19)","benign(0.157)","2024-08-10",null,"Gene3D:1.20.1250.20;Pfam:PF00083;Prints:PR00171;PROSITE_profiles:PS50850;PANTHER:PTHR23500;PANTHER:PTHR23500:SF111;Superfamily:SSF103473;TIGRFAM:TIGR00879;Transmembrane_helices:TMhelix;CDD:cd17434",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CATGATGAAGA","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STK38L",23012,"BI","GRCh38","chr12",27322154,27322154,"+","Missense_Mutation","SNP","C","C","T","rs773421696",null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.1187C>T","p.Ala396Val","p.A396V","ENST00000389032","13/14",96,58,38,135,null,null,"STK38L,missense_variant,p.A396V,ENST00000389032,NM_015000.4,c.1187C>T,MODERATE,YES,deleterious(0.02),benign(0.072),1;STK38L,3_prime_UTR_variant,,ENST00000536093,,c.*418C>T,MODIFIER,,,,1;STK38L,non_coding_transcript_exon_variant,,ENST00000543992,,n.546C>T,MODIFIER,,,,1","T","ENSG00000211455","ENST00000389032","Transcript","missense_variant","missense_variant","1245/4957","1187/1395","396/464","A/V","gCa/gTa","rs773421696;COSV101198694",null,1,"STK38L","HGNC","HGNC:17848","protein_coding","YES","CCDS31761.1","ENSP00000373684","Q9Y2H1.177",null,"UPI0000035B4A","Q9Y2H1-1","NM_015000.4","NM_015000.4","P1",null,"deleterious(0.02)","benign(0.072)","13/14",null,"Superfamily:SSF56112;SMART:SM00133;Gene3D:1.10.510.10;Gene3D:3.30.200.20;PANTHER:PTHR24356;PANTHER:PTHR24356:SF160;CDD:cd05627;PROSITE_profiles:PS51285",{"$nulls":8},"3.991e-06",0,0,0,0,0,"8.812e-06",0,0,"8.812e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCCAGCAGCAA","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["NOMO1",23420,"BI","GRCh38","chr16",14882648,14882648,"+","Missense_Mutation","SNP","C","C","T","rs1228317582",null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.3082C>T","p.Arg1028Trp","p.R1028W","ENST00000287667","26/31",198,137,61,271,null,null,"NOMO1,missense_variant,p.R1028W,ENST00000287667,NM_014287.4,c.3082C>T,MODERATE,,deleterious(0),probably_damaging(0.981),1;NOMO1,missense_variant,p.R1028W,ENST00000620755,,c.3082C>T,MODERATE,YES,deleterious(0),probably_damaging(0.964),1;NOMO1,missense_variant,p.R861W,ENST00000610363,,c.2581C>T,MODERATE,,deleterious(0),probably_damaging(0.984),1;NOMO1,upstream_gene_variant,,ENST00000565655,,,MODIFIER,,,,1","T","ENSG00000103512","ENST00000287667","Transcript","missense_variant","missense_variant","3213/4312","3082/3669","1028/1222","R/W","Cgg/Tgg","rs1228317582;COSV55061225",null,1,"NOMO1","HGNC","HGNC:30060","protein_coding",null,"CCDS10556.1","ENSP00000287667","Q15155.184",null,"UPI000013D37E",null,"NM_014287.4","NM_014287.4","P4",null,"deleterious(0)","probably_damaging(0.981)","26/31",null,"PANTHER:PTHR23303;PANTHER:PTHR23303:SF14;Superfamily:SSF49464",{"$nulls":8},"1.133e-05",0,0,0,0,0,"2.724e-05",0,0,"2.724e-05","gnomAD_NFE","2.0333500287961215e-05",0,0,0,0,0,0,0,"4.6352099161595106e-05",0,0,"4.6352099161595106e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TTGAGCGGGCG","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,"COSM967296","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MZF1",7593,"BI","GRCh38","chr19",58563019,58563019,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-HF-A5NB","TCGA-HF-A5NB-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"f83b7d20-8fd5-477a-b33f-af705e1ddd55","cebc2936-7740-41cb-9902-de57eefd0ed3","c.1258G>T","p.Gly420Cys","p.G420C","ENST00000215057","2024-06-06",25,12,13,34,null,null,"MZF1,missense_variant,p.G420C,ENST00000215057,NM_198055.2,c.1258G>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.947),-1;MZF1,missense_variant,p.G420C,ENST00000599369,NM_003422.2,c.1258G>T,MODERATE,,deleterious(0.02),probably_damaging(0.947),-1;MZF1,3_prime_UTR_variant,,ENST00000594234,NM_001267033.2,c.*141G>T,MODIFIER,,,,-1;UBE2M,upstream_gene_variant,,ENST00000253023,NM_003969.4,,MODIFIER,YES,,,-1;UBE2M,upstream_gene_variant,,ENST00000595957,,,MODIFIER,,,,-1;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,,n.1595G>T,MODIFIER,,,,-1;MZF1-AS1,intron_variant,,ENST00000593642,,n.281+3610C>A,MODIFIER,,,,1;MZF1-AS1,intron_variant,,ENST00000600534,,n.185+3610C>A,MODIFIER,YES,,,1;MZF1-AS1,intron_variant,,ENST00000600726,,n.224+3610C>A,MODIFIER,,,,1;MZF1-AS1,intron_variant,,ENST00000653470,,n.201+3610C>A,MODIFIER,,,,1;MZF1-AS1,downstream_gene_variant,,ENST00000661912,,,MODIFIER,,,,1","A","ENSG00000099326","ENST00000215057","Transcript","missense_variant","missense_variant","1579/2666","1258/2205","420/734","G/C","Ggc/Tgc","COSV99284984",null,-1,"MZF1","HGNC","HGNC:13108","protein_coding","YES","CCDS12988.1","ENSP00000215057","P28698.202","A0A024R4T5.46","UPI0000072863","P28698-1","NM_198055.2","NM_198055.2","P1",null,"deleterious(0.02)","probably_damaging(0.947)","2024-06-06",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24384;PANTHER:PTHR24384:SF2;SMART:SM00355;Superfamily:SSF57667;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAAGCCCTGGC","29dc6418-9c71-4afe-8e5b-9df6d70cdb80","885b06c9-91cd-4741-9922-332229685442","a58b6cd2-48f8-47d0-b97a-02a376f83e5c",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KLHL6",89857,"BI","GRCh38","chr3",183555380,183555380,"+","Missense_Mutation","SNP","C","C","T","rs776911567",null,"TCGA-D7-A4Z0","TCGA-D7-A4Z0-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"75d90dfc-06ac-4725-887b-6dcca9eadd6b","ec32faed-705c-4247-9ebb-518ce17cdafb","c.274G>A","p.Ala92Thr","p.A92T","ENST00000341319","2024-01-07",98,84,14,100,null,null,"KLHL6,missense_variant,p.A92T,ENST00000341319,NM_130446.4,c.274G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.972),-1;KLHL6,missense_variant,p.A81T,ENST00000468734,,c.241G>A,MODERATE,,deleterious(0),probably_damaging(0.972),-1;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,,n.286G>A,MODIFIER,,,,-1;KLHL6-AS1,downstream_gene_variant,,ENST00000491676,,,MODIFIER,YES,,,1","T","ENSG00000172578","ENST00000341319","Transcript","missense_variant","missense_variant","327/6295","274/1866","92/621","A/T","Gca/Aca","rs776911567;COSV58070359",null,-1,"KLHL6","HGNC","HGNC:18653","protein_coding","YES","CCDS3245.2","ENSP00000341342","Q8WZ60.157",null,"UPI0000169CB9",null,"NM_130446.4","NM_130446.4","P1",null,"deleterious(0.03)","probably_damaging(0.972)","2024-01-07",null,"PROSITE_profiles:PS50097;CDD:cd18236;PANTHER:PTHR24412:SF428;PANTHER:PTHR24412;PIRSF:PIRSF037037;Gene3D:3.30.710.10;Pfam:PF00651;SMART:SM00225;Superfamily:SSF54695",{"$nulls":8},"7.972e-06",0,0,0,0,0,0,0,"6.536e-05","6.536e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GGCTGCGGCAA","5d1e1768-3295-4131-a130-0326d9a9a53e","aac00911-635a-41c9-aa4c-86df86fff823","dce21359-004f-4e8b-89e4-9e1a30faffdf",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CPXM2",119587,"BI","GRCh38","chr10",123746840,123746840,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-D7-A4Z0","TCGA-D7-A4Z0-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"75d90dfc-06ac-4725-887b-6dcca9eadd6b","ec32faed-705c-4247-9ebb-518ce17cdafb","c.2195A>C","p.Lys732Thr","p.K732T","ENST00000241305","14/14",113,99,14,118,null,null,"CPXM2,missense_variant,p.K732T,ENST00000241305,NM_198148.3,c.2195A>C,MODERATE,YES,tolerated(0.3),benign(0.003),-1;CPXM2,intron_variant,,ENST00000615851,,c.505+7823A>C,MODIFIER,,,,-1;CPXM2,intron_variant,,ENST00000368854,,n.2064+7823A>C,MODIFIER,,,,-1","G","ENSG00000121898","ENST00000241305","Transcript","missense_variant","missense_variant","2343/3544","2195/2271","732/756","K/T","aAg/aCg","COSV53872059",null,-1,"CPXM2","HGNC","HGNC:26977","protein_coding","YES","CCDS7637.1","ENSP00000241305","Q8N436.153",null,"UPI00001AE6BE",null,"NM_198148.3","NM_198148.3","P1",null,"tolerated(0.3)","benign(0.003)","14/14",null,"PANTHER:PTHR11532;PANTHER:PTHR11532:SF45",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAAACTTCTCC","5d1e1768-3295-4131-a130-0326d9a9a53e","aac00911-635a-41c9-aa4c-86df86fff823","dce21359-004f-4e8b-89e4-9e1a30faffdf",null,"COSM4012401","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAGEA10",4109,"BI","GRCh38","chrX",152135579,152135579,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-D7-A4Z0","TCGA-D7-A4Z0-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"75d90dfc-06ac-4725-887b-6dcca9eadd6b","ec32faed-705c-4247-9ebb-518ce17cdafb","c.42A>C","p.Glu14Asp","p.E14D","ENST00000244096","2024-05-05",158,133,25,169,null,null,"MAGEA10,missense_variant,p.E14D,ENST00000244096,NM_001011543.2&NM_001251828.2,c.42A>C,MODERATE,YES,tolerated(0.25),benign(0.411),-1;MAGEA10,missense_variant,p.E14D,ENST00000370323,NM_021048.5,c.42A>C,MODERATE,,tolerated(0.25),benign(0.411),-1;MAGEA10,missense_variant,p.E14D,ENST00000427322,,c.42A>C,MODERATE,,tolerated(0.06),benign(0.411),-1;MAGEA10,missense_variant,p.E14D,ENST00000444834,,c.42A>C,MODERATE,,tolerated(0.1),benign(0.411),-1;MAGEA10,missense_variant,p.E14D,ENST00000579960,,c.42A>C,MODERATE,,deleterious_low_confidence(0),benign(0.411),-1;MAGEA10,missense_variant,p.E14D,ENST00000583480,,c.42A>C,MODERATE,,deleterious_low_confidence(0.04),benign(0.411),-1;MAGEA10-MAGEA5,non_coding_transcript_exon_variant,,ENST00000577437,,n.453A>C,MODIFIER,,,,-1;MAGEA10-MAGEA5,intron_variant,,ENST00000509345,NM_001204811.3,n.47+2896A>C,MODIFIER,YES,,,-1;MAGEA10-MAGEA5,intron_variant,,ENST00000583636,,n.19+2896A>C,MODIFIER,,,,-1;AC116666.1,upstream_gene_variant,,ENST00000453915,,,MODIFIER,YES,,,1","G","ENSG00000124260","ENST00000244096","Transcript","missense_variant","missense_variant","475/2741","42/1110","14/369","E/D","gaA/gaC","COSV54886285",null,-1,"MAGEA10","HGNC","HGNC:6797","protein_coding","YES","CCDS14705.1","ENSP00000244096","P43363.144",null,"UPI00001AE6DA",null,"NM_001011543.2;NM_001251828.2",null,"P1",null,"tolerated(0.25)","benign(0.411)","2024-05-05",null,"Pfam:PF12440;PANTHER:PTHR11736;PANTHER:PTHR11736:SF138;SMART:SM01392;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"AGATCTTCTTC","5d1e1768-3295-4131-a130-0326d9a9a53e","aac00911-635a-41c9-aa4c-86df86fff823","dce21359-004f-4e8b-89e4-9e1a30faffdf",null,"COSM4107565","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MBD5",55777,"BI","GRCh38","chr2",148489714,148489714,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.3383C>T","p.Ala1128Val","p.A1128V","ENST00000407073","2024-12-15",101,79,22,105,null,null,"MBD5,missense_variant,p.A1361V,ENST00000642680,NM_001378120.1,c.4082C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;MBD5,missense_variant,p.A1128V,ENST00000407073,NM_018328.5,c.3383C>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.996),1;MBD5,missense_variant,p.A1128V,ENST00000638043,,c.3383C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.328),1;MBD5,intron_variant,,ENST00000416015,,c.2972+3764C>T,MODIFIER,,,,1;MBD5,upstream_gene_variant,,ENST00000630352,,,MODIFIER,,,,1;MBD5,missense_variant,p.A607V,ENST00000628572,,c.1820C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.721),1;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,,n.1164C>T,MODIFIER,,,,1;MBD5,intron_variant,,ENST00000629878,,c.3169+214C>T,MODIFIER,,,,1","T","ENSG00000204406","ENST00000407073","Transcript","missense_variant","missense_variant","4380/9512","3383/4485","1128/1494","A/V","gCc/gTc","COSV68698581",null,1,"MBD5","HGNC","HGNC:20444","protein_coding",null,"CCDS33302.1","ENSP00000386049","Q9P267.152",null,"UPI0000208C40","Q9P267-1","NM_018328.5",{"$nulls":3},"deleterious_low_confidence(0.01)","probably_damaging(0.996)","2024-12-15",null,"PANTHER:PTHR16112;PANTHER:PTHR16112:SF18",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CACTGCCTCAA","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM4085348","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDHGA11",56105,"BI","GRCh38","chr5",141422969,141422969,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.1742G>A","p.Arg581His","p.R581H","ENST00000398587","2024-01-04",314,299,14,328,null,null,"PCDHGA11,missense_variant,p.R581H,ENST00000398587,NM_018914.3,c.1742G>A,MODERATE,YES,deleterious_low_confidence(0),benign(0.344),1;PCDHGA11,missense_variant,p.R581H,ENST00000622044,NM_032091.2,c.1742G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.329),1;PCDHGA11,missense_variant,p.R581H,ENST00000518882,NM_032092.2,c.1742G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.647),1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4,c.2425-71838G>A,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4,c.2425-71838G>A,MODIFIER,YES,,,1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.4,c.2415+2695G>A,MODIFIER,YES,,,1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1,c.2424+27732G>A,MODIFIER,YES,,,1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,c.2436+7358G>A,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2422-71838G>A,MODIFIER,YES,,,1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3,c.2424+46462G>A,MODIFIER,YES,,,1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,c.2421+56218G>A,MODIFIER,YES,,,1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4,c.2424+37646G>A,MODIFIER,YES,,,1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4,c.2397+32688G>A,MODIFIER,YES,,,1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,c.2418+12349G>A,MODIFIER,YES,,,1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,c.2421+60413G>A,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2409+70300G>A,MODIFIER,YES,,,1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4,c.2514+65348G>A,MODIFIER,YES,,,1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,c.2424+17593G>A,MODIFIER,YES,,,1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5,c.2415+50160G>A,MODIFIER,YES,,,1;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2,c.2397+22445G>A,MODIFIER,YES,,,1;PCDHGB7,downstream_gene_variant,,ENST00000612073,NM_032101.3,,MODIFIER,,,,1;PCDHGB8P,upstream_gene_variant,,ENST00000502926,,,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2004-71838G>A,MODIFIER,,,,1;PCDHGB8P,upstream_gene_variant,,ENST00000507007,,,MODIFIER,YES,,,1;AC005618.2,downstream_gene_variant,,ENST00000624928,,,MODIFIER,YES,,,-1","A","ENSG00000253873","ENST00000398587","Transcript","missense_variant","missense_variant","1919/4787","1742/2808","581/935","R/H","cGc/cAc","COSV54006472",null,1,"PCDHGA11","HGNC","HGNC:8698","protein_coding","YES","CCDS47294.1","ENSP00000381589","Q9Y5H2.151",null,"UPI00000739DC","Q9Y5H2-1","NM_018914.3","NM_018914.3","P1",null,"deleterious_low_confidence(0)","benign(0.344)","2024-01-04",null,"Gene3D:2.60.40.60;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF84;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCCCCGCTCTG","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM3852032","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MCPH1",79648,"BI","GRCh38","chr8",6621545,6621546,"+","Frame_Shift_Ins","INS","-","-","C","rs1401112399",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.2312dup","p.Val772SerfsTer6","p.V772Sfs*6","ENST00000344683","13/14",135,117,17,82,null,null,"MCPH1,frameshift_variant,p.V772Sfs*6,ENST00000344683,NM_001322042.2&NM_024596.5&NM_001363980.2&NM_001363979.1,c.2312dup,HIGH,YES,,,1;MIR8055,downstream_gene_variant,,ENST00000610739,,,MODIFIER,YES,,,-1;MCPH1,non_coding_transcript_exon_variant,,ENST00000521175,,n.100dup,MODIFIER,,,,1;MCPH1,non_coding_transcript_exon_variant,,ENST00000521129,,n.470dup,MODIFIER,,,,1;MCPH1,non_coding_transcript_exon_variant,,ENST00000519221,,n.419dup,MODIFIER,,,,1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000659007,,n.1670dup,MODIFIER,YES,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000662747,,n.1131dup,MODIFIER,,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000655775,,n.326dup,MODIFIER,,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000662128,,n.306dup,MODIFIER,,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000671468,,n.1670dup,MODIFIER,,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000515608,,n.775dup,MODIFIER,,,,-1;MCPH1-AS1,non_coding_transcript_exon_variant,,ENST00000522897,,n.310dup,MODIFIER,,,,-1;MCPH1-AS1,intron_variant,,ENST00000661193,,n.1055-1322dup,MODIFIER,,,,-1;AF287957.1,upstream_gene_variant,,ENST00000607368,,,MODIFIER,YES,,,-1","C","ENSG00000147316","ENST00000344683","Transcript","frameshift_variant","frameshift_variant","2347-2348/8008","2306-2307/2508","769/835","S/SX","agc/agCc","rs1401112399",null,1,"MCPH1","HGNC","HGNC:6954","protein_coding","YES","CCDS43689.1","ENSP00000342924","Q8NEM0.163",null,"UPI000020FF7E","Q8NEM0-1","NM_001322042.2;NM_024596.5;NM_001363980.2;NM_001363979.1","NM_024596.5","P1",{"$nulls":3},"13/14",null,"Gene3D:3.40.50.10190;PDB-ENSP_mappings:3sht.A;PDB-ENSP_mappings:3sht.B;PDB-ENSP_mappings:3sht.C;PDB-ENSP_mappings:3shv.A;PDB-ENSP_mappings:3shv.B;PDB-ENSP_mappings:3szm.A;PDB-ENSP_mappings:3szm.B;PDB-ENSP_mappings:3szm.C;PDB-ENSP_mappings:3szm.D;PDB-ENSP_mappings:3szm.E;PDB-ENSP_mappings:3szm.F;PDB-ENSP_mappings:3szm.G;PDB-ENSP_mappings:3szm.H;PDB-ENSP_mappings:3t1n.A;PDB-ENSP_mappings:3t1n.B;PDB-ENSP_mappings:3u3z.A;Pfam:PF16589;PROSITE_profiles:PS50172;PANTHER:PTHR14625;SMART:SM00292;Superfamily:SSF52113;CDD:cd17751",{"$nulls":41},"HIGH",1,"insertion",1,6,null,1,"CAGCAGCCCCC","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FKBP15",23307,"BI","GRCh38","chr9",113178722,113178722,"+","Frame_Shift_Del","DEL","T","T","-","rs774060142",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.1994del","p.Lys665ArgfsTer9","p.K665Rfs*9","ENST00000238256","20/28",22,14,8,21,null,null,"FKBP15,frameshift_variant,p.K665Rfs*9,ENST00000446284,,c.1994del,HIGH,YES,,,-1;FKBP15,frameshift_variant,p.K665Rfs*9,ENST00000238256,NM_015258.2,c.1994del,HIGH,,,,-1","-","ENSG00000119321","ENST00000238256","Transcript","frameshift_variant","frameshift_variant","2028/8766","1994/3660","665/1219","K/X","aAg/ag","rs774060142",null,-1,"FKBP15","HGNC","HGNC:23397","protein_coding",null,"CCDS48007.1","ENSP00000238256","Q5T1M5.142",null,"UPI000022D996","Q5T1M5-1","NM_015258.2","NM_015258.2","P2",{"$nulls":3},"20/28",null,"PANTHER:PTHR44927",{"$nulls":6},0.00566,6.051E-3,"4.256e-06",0,0,0,0,0,"9.459e-06",0,0,6.051E-3,"EA",{"$nulls":22},"HIGH",null,"deletion",1,{"$nulls":3},"GTTTCCTTTTTT","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM1459395;COSM1459396","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MYO16",23026,"BI","GRCh38","chr13",109009038,109009038,"+","Frame_Shift_Del","DEL","T","T","-","rs761471964",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.2525del","p.Phe842SerfsTer17","p.F842Sfs*17","ENST00000356711","22/35",58,44,14,66,null,null,"MYO16,frameshift_variant,p.F864Sfs*17,ENST00000457511,NM_001198950.3,c.2591del,HIGH,YES,,,1;MYO16,frameshift_variant,p.F842Sfs*17,ENST00000356711,NM_015011.3,c.2525del,HIGH,,,,1;MYO16,frameshift_variant,p.F842Sfs*17,ENST00000251041,,c.2525del,HIGH,,,,1;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,,n.1911del,MODIFIER,,,,1","-","ENSG00000041515","ENST00000356711","Transcript","frameshift_variant","frameshift_variant","2644/6864","2518/5577","840/1858","F/X","Ttt/tt","rs761471964",null,1,"MYO16","HGNC","HGNC:29822","protein_coding",null,"CCDS32008.1","ENSP00000349145","Q9Y6X6.159",null,"UPI0000160FF2","Q9Y6X6-1","NM_015011.3",null,"P4",{"$nulls":3},"22/35",null,"Pfam:PF00063;PROSITE_profiles:PS51456;PANTHER:PTHR47335;SMART:SM00242;Superfamily:SSF52540;CDD:cd14878",{"$nulls":8},"3.964e-05",0,"7.682e-05",0,0.0001212,"4.844e-05","2.782e-05",0,"3.826e-05",0.0001212,"gnomAD_EAS",{"$nulls":22},"HIGH",null,"deletion",1,7,null,null,"TTGGACTTTTTT","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM1235240;COSM4187541;COSM4187542","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["POMT2",29954,"BI","GRCh38","chr14",77301235,77301235,"+","Missense_Mutation","SNP","G","G","A","rs771995900",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.671C>T","p.Pro224Leu","p.P224L","ENST00000261534","2024-06-21",99,74,25,99,null,null,"POMT2,missense_variant,p.P224L,ENST00000261534,NM_013382.7,c.671C>T,MODERATE,YES,tolerated(0.33),benign(0.04),-1;POMT2,missense_variant,p.P133L,ENST00000554948,,c.398C>T,MODERATE,,tolerated(0.22),benign(0.04),-1;POMT2,non_coding_transcript_exon_variant,,ENST00000553863,,n.335C>T,MODIFIER,,,,-1;POMT2,downstream_gene_variant,,ENST00000555788,,,MODIFIER,,,,-1;POMT2,downstream_gene_variant,,ENST00000556880,,,MODIFIER,,,,-1;POMT2,upstream_gene_variant,,ENST00000557675,,,MODIFIER,,,,-1;POMT2,3_prime_UTR_variant,,ENST00000556326,,c.*337C>T,MODIFIER,,,,-1;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,,n.694C>T,MODIFIER,,,,-1;POMT2,non_coding_transcript_exon_variant,,ENST00000555675,,n.387C>T,MODIFIER,,,,-1;POMT2,intron_variant,,ENST00000557289,,c.56-1674C>T,MODIFIER,,,,-1;POMT2,upstream_gene_variant,,ENST00000554767,,,MODIFIER,,,,-1;POMT2,downstream_gene_variant,,ENST00000557525,,,MODIFIER,,,,-1","A","ENSG00000009830","ENST00000261534","Transcript","missense_variant","missense_variant","873/4875","671/2253","224/750","P/L","cCc/cTc","rs771995900;COSV55072933",null,-1,"POMT2","HGNC","HGNC:19743","protein_coding","YES","CCDS9857.1","ENSP00000261534","Q9UKY4.179",null,"UPI0000070587","Q9UKY4-1","NM_013382.7","NM_013382.7","P1",null,"tolerated(0.33)","benign(0.04)","2024-06-21",null,"PANTHER:PTHR10050;PANTHER:PTHR10050:SF46;Pfam:PF02366",{"$nulls":8},"1.194e-05",0,0,0,0,0,"2.642e-05",0,0,"2.642e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"ACCAGGGGGCA","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM1707631","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COLGALT1",79709,"BI","GRCh38","chr19",17568621,17568621,"+","Missense_Mutation","SNP","C","C","T","rs759308497",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.737C>T","p.Ala246Val","p.A246V","ENST00000252599","2024-05-12",136,95,41,116,null,null,"COLGALT1,missense_variant,p.A246V,ENST00000252599,NM_024656.4,c.737C>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.932),1;COLGALT1,missense_variant,p.A4V,ENST00000597147,,c.11C>T,MODERATE,,deleterious(0),probably_damaging(0.937),1;COLGALT1,downstream_gene_variant,,ENST00000600474,,,MODIFIER,,,,1;COLGALT1,non_coding_transcript_exon_variant,,ENST00000601354,,n.399C>T,MODIFIER,,,,1","T","ENSG00000130309","ENST00000252599","Transcript","missense_variant","missense_variant","802/3647","737/1869","246/622","A/V","gCg/gTg","rs759308497;COSV53110947",null,1,"COLGALT1","HGNC","HGNC:26182","protein_coding","YES","CCDS12363.1","ENSP00000252599","Q8NBJ5.142",null,"UPI000003B0F7",null,"NM_024656.4","NM_024656.4","P1",null,"deleterious(0.04)","probably_damaging(0.932)","2024-05-12",null,"PANTHER:PTHR10730;PANTHER:PTHR10730:SF28;Superfamily:SSF53448",{"$nulls":8},"1.193e-05",0,0,0,0,0,"2.637e-05",0,0,"2.637e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGCGGCGTCCA","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,"COSM4075402","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRPF6",24148,"BI","GRCh38","chr20",64022833,64022834,"+","Frame_Shift_Del","DEL","GT","GT","-","novel",null,"TCGA-BR-8591","TCGA-BR-8591-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d807764-06c1-4711-b3ba-939e11723d45","bd35fe5b-c91a-4e25-b964-9c173673af02","c.1729_1730del","p.Trp577AlafsTer65","p.W577Afs*65","ENST00000266079","13/21",132,104,28,102,null,null,"PRPF6,frameshift_variant,p.W577Afs*65,ENST00000266079,NM_012469.4,c.1729_1730del,HIGH,YES,,,1","-","ENSG00000101161","ENST00000266079","Transcript","frameshift_variant","frameshift_variant","1838-1839/3047","1724-1725/2826","575/941","S/X","aGT/a",null,null,1,"PRPF6","HGNC","HGNC:15860","protein_coding","YES","CCDS13550.1","ENSP00000266079","O94906.198",null,"UPI0000132356","O94906-1","NM_012469.4","NM_012469.4","P1",{"$nulls":3},"13/21",null,"PDB-ENSP_mappings:3jcr.G;PDB-ENSP_mappings:5o9z.G;PDB-ENSP_mappings:6ah0.N;PDB-ENSP_mappings:6ahd.N;PDB-ENSP_mappings:6qw6.5J;PROSITE_profiles:PS50293;PANTHER:PTHR11246;PANTHER:PTHR11246:SF1;SMART:SM00386;Superfamily:SSF48452",{"$nulls":41},"HIGH",1,"deletion",1,5,null,1,"AGAAGAGTGTGTG","35800e4d-984a-45fe-86e0-b4fa074c7751","d5ee9dbe-e02c-4028-ad68-1167f06b6926","0f3e2f16-1c06-4128-af45-ee73de19ea69",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["LRRIQ3",127255,"BI","GRCh38","chr1",74041476,74041476,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-6453","TCGA-BR-6453-11A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"b656f146-54b5-4c34-aa07-b91551223217","e317bae9-ecab-466c-958c-64901ebfbb90","c.1455A>C","p.Gln485His","p.Q485H","ENST00000354431","2024-07-08",182,160,22,185,null,null,"LRRIQ3,missense_variant,p.Q485H,ENST00000354431,NM_001322315.2&NM_001105659.2,c.1455A>C,MODERATE,YES,tolerated(0.05),benign(0.01),-1;LRRIQ3,missense_variant,p.Q485H,ENST00000395089,,c.1455A>C,MODERATE,,tolerated(0.05),benign(0.01),-1;LRRIQ3,intron_variant,,ENST00000417067,,c.131-14507A>C,MODIFIER,,,,-1;LRRIQ3,intron_variant,,ENST00000415760,,c.*2703+215A>C,MODIFIER,,,,-1","G","ENSG00000162620","ENST00000354431","Transcript","missense_variant","missense_variant","1636/2854","1455/1875","485/624","Q/H","caA/caC","COSV63048858",null,-1,"LRRIQ3","HGNC","HGNC:28318","protein_coding","YES","CCDS41350.1","ENSP00000346414","A6PVS8.101",null,"UPI000155D493","A6PVS8-1","NM_001322315.2;NM_001105659.2","NM_001105659.2","P4",null,"tolerated(0.05)","benign(0.01)","2024-07-08",null,"PANTHER:PTHR46723",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CAAACTTGTCG","d90b7b98-ebee-47cf-8324-e3638a3901a1","521de3f0-62da-4c34-9553-f56e5ae1a27a","ae633e83-303f-4a90-ac3b-34458fd9beef",null,"COSM4009824","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MEGF6",1953,"BI","GRCh38","chr1",3501091,3501091,"+","Missense_Mutation","SNP","C","C","T","rs1386760302",null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.2450G>A","p.Cys817Tyr","p.C817Y","ENST00000356575","20/37",59,48,11,73,null,null,"MEGF6,missense_variant,p.C817Y,ENST00000356575,NM_001409.4,c.2450G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;MEGF6,missense_variant,p.C712Y,ENST00000294599,,c.2135G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;MEGF6,upstream_gene_variant,,ENST00000491842,,,MODIFIER,,,,-1;MEGF6,missense_variant,p.C824Y,ENST00000485002,,c.2471G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1","T","ENSG00000162591","ENST00000356575","Transcript","missense_variant","missense_variant","2690/7443","2450/4626","817/1541","C/Y","tGc/tAc","rs1386760302;COSV53888248",null,-1,"MEGF6","HGNC","HGNC:3232","protein_coding","YES","CCDS41237.1","ENSP00000348982","O75095.153",null,"UPI0000DACACB","O75095-1","NM_001409.4","NM_001409.4","P1",null,"deleterious(0)","probably_damaging(0.999)","20/37",null,"Gene3D:2.170.300.10;PANTHER:PTHR24035;PANTHER:PTHR24035:SF106;SMART:SM00180",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CTGGGCACACT","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM4031693;COSM4907910","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAST2",23139,"BI","GRCh38","chr1",46034651,46034651,"+","Missense_Mutation","SNP","C","C","T","rs749213758",null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.3982C>T","p.Arg1328Cys","p.R1328C","ENST00000361297","29/29",103,80,23,107,null,null,"MAST2,missense_variant,p.R1328C,ENST00000361297,NM_001324320.1&NM_015112.3&NM_001319245.1,c.3982C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),1;MAST2,missense_variant,p.R1185C,ENST00000674079,NM_001324321.1,c.3553C>T,MODERATE,,deleterious(0),probably_damaging(1),1;MAST2,intron_variant,,ENST00000372009,,c.*340-176C>T,MODIFIER,,,,1;MAST2,downstream_gene_variant,,ENST00000372008,,,MODIFIER,,,,1;MAST2,downstream_gene_variant,,ENST00000477968,,,MODIFIER,,,,1;MAST2,downstream_gene_variant,,ENST00000492813,,,MODIFIER,,,,1","T","ENSG00000086015","ENST00000361297","Transcript","missense_variant","missense_variant","4266/5737","3982/5397","1328/1798","R/C","Cgc/Tgc","rs749213758;COSV63617440",null,1,"MAST2","HGNC","HGNC:19035","protein_coding","YES","CCDS41326.1","ENSP00000354671","Q6P0Q8.157",null,"UPI0000458AEB","Q6P0Q8-1","NM_001324320.1;NM_015112.3;NM_001319245.1","NM_015112.3","P4",null,"deleterious_low_confidence(0)","probably_damaging(0.999)","29/29",null,"PANTHER:PTHR24356;PANTHER:PTHR24356:SF136;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.604e-05","6.44e-05","2.898e-05",0,0,0,0,0,"6.536e-05","6.536e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCCAACGCCAG","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM252600","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLXNA1",5361,"BI","GRCh38","chr3",127028001,127028001,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.4424G>A","p.Gly1475Asp","p.G1475D","ENST00000393409","23/31",76,61,14,69,null,null,"PLXNA1,missense_variant,p.G1475D,ENST00000393409,NM_032242.3,c.4424G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;PLXNA1,upstream_gene_variant,,ENST00000505278,,,MODIFIER,,,,1;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,,n.1617G>A,MODIFIER,,,,1;PLXNA1,upstream_gene_variant,,ENST00000503363,,,MODIFIER,,,,1","A","ENSG00000114554","ENST00000393409","Transcript","missense_variant","missense_variant","4424/9066","4424/5691","1475/1896","G/D","gGc/gAc","COSV52524576",null,1,"PLXNA1","HGNC","HGNC:9099","protein_coding","YES","CCDS33847.2","ENSP00000377061","Q9UIW2.153",null,"UPI00001A7983",null,"NM_032242.3",null,"P1",null,"deleterious(0)","probably_damaging(1)","23/31",null,"CDD:cd12790;PANTHER:PTHR22625:SF35;PANTHER:PTHR22625;Gene3D:1.10.506.10;Pfam:PF08337;Superfamily:SSF48350",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAAGGGCCCCA","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM4113172","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FNIP2",57600,"BI","GRCh38","chr4",158861651,158861651,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.1340C>T","p.Ala447Val","p.A447V","ENST00000264433","2024-12-17",183,132,51,215,null,null,"FNIP2,missense_variant,p.A447V,ENST00000264433,NM_020840.3&NM_001346043.2&NM_001366843.1&NM_001323916.2,c.1340C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;FNIP2,missense_variant,p.A470V,ENST00000512986,,c.1409C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;FNIP2,downstream_gene_variant,,ENST00000504715,,,MODIFIER,,,,1","T","ENSG00000052795","ENST00000264433","Transcript","missense_variant","missense_variant","1527/7038","1340/3345","447/1114","A/V","gCc/gTc","COSV52438595",null,1,"FNIP2","HGNC","HGNC:29280","protein_coding","YES","CCDS47155.1","ENSP00000264433","Q9P278.122",null,"UPI00001C1E0A","Q9P278-1","NM_020840.3;NM_001346043.2;NM_001366843.1;NM_001323916.2","NM_020840.3","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-12-17",null,"PDB-ENSP_mappings:6nzd.I;PDB-ENSP_mappings:6ulg.N;PROSITE_profiles:PS51836;PANTHER:PTHR21634:SF11;PANTHER:PTHR21634;Pfam:PF14637",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCTGGCCTGGG","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM4123180","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["H2AC16",8332,"BI","GRCh38","chr6",27865650,27865650,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.296G>A","p.Gly99Asp","p.G99D","ENST00000613174","2024-01-01",153,120,32,178,null,null,"H2AC16,missense_variant,p.G99D,ENST00000613174,NM_003511.3,c.296G>A,MODERATE,YES,deleterious_low_confidence(0.03),benign(0.019),1;H2BC15,intron_variant,,ENST00000396980,,c.378-94G>A,MODIFIER,,,,1;H1-5,downstream_gene_variant,,ENST00000331442,NM_005322.3,,MODIFIER,YES,,,-1;H2BC16P,upstream_gene_variant,,ENST00000402707,,,MODIFIER,YES,,,-1","A","ENSG00000276903","ENST00000613174","Transcript","missense_variant","missense_variant","334/482","296/393","99/130","G/D","gGc/gAc","COSV58899640",null,1,"H2AC16","HGNC","HGNC:4730","protein_coding","YES","CCDS4634.1","ENSP00000482538","P0C0S8.150","A4FTV9.121","UPI0000000E01",null,"NM_003511.3","NM_003511.3","P1",null,"deleterious_low_confidence(0.03)","benign(0.019)","2024-01-01",null,"Gene3D:1.10.20.10;PDB-ENSP_mappings:5kgf.C;PDB-ENSP_mappings:5kgf.G;PDB-ENSP_mappings:6fml.O;PDB-ENSP_mappings:6fml.S;PDB-ENSP_mappings:6r0c.C;PDB-ENSP_mappings:6r0c.G;PDB-ENSP_mappings:6rny.C;PDB-ENSP_mappings:6rny.G;Pfam:PF16211;PANTHER:PTHR23430;PANTHER:PTHR23430:SF225;SMART:SM00414;Superfamily:SSF47113;CDD:cd00074",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"GCTGGGCAAAG","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM3861091","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLE3",54107,"BI","GRCh38","chr9",113408915,113408915,"+","Frame_Shift_Del","DEL","T","T","-","rs1340821595",null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.340del","p.Thr114GlnfsTer32","p.T114Qfs*32","ENST00000374169","2024-04-04",38,33,5,44,null,null,"POLE3,frameshift_variant,p.T114Qfs*32,ENST00000374171,NM_001278255.1&NM_017443.5,c.340del,HIGH,YES,,,-1;POLE3,frameshift_variant,p.T114Qfs*32,ENST00000374169,,c.340del,HIGH,,,,-1;C9orf43,upstream_gene_variant,,ENST00000288462,NM_152786.3,,MODIFIER,YES,,,1;C9orf43,upstream_gene_variant,,ENST00000374165,NM_001278629.2&NM_001278630.2,,MODIFIER,,,,1;POLE3,non_coding_transcript_exon_variant,,ENST00000479871,,n.716del,MODIFIER,,,,-1;POLE3,downstream_gene_variant,,ENST00000475080,,,MODIFIER,,,,-1;C9orf43,upstream_gene_variant,,ENST00000490544,,,MODIFIER,,,,1","-","ENSG00000148229","ENST00000374169","Transcript","frameshift_variant","frameshift_variant","429/2109","340/444","114/147","T/X","Aca/ca","rs1340821595",null,-1,"POLE3","HGNC","HGNC:13546","protein_coding",null,"CCDS6795.1","ENSP00000363284","Q9NRF9.168","A0A024R829.53","UPI0000001BE2",{"$nulls":3},"P1",{"$nulls":3},"2024-04-04",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR46172;Gene3D:1.10.20.10;Superfamily:SSF47113",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"AGTCTGTTTTTT","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM3320185","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ARHGAP1",392,"BI","GRCh38","chr11",46680674,46680674,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.709del","p.Leu237CysfsTer135","p.L237Cfs*135","ENST00000311956","2024-08-13",51,37,13,36,null,null,"ARHGAP1,frameshift_variant,p.L237Cfs*135,ENST00000311956,NM_004308.5,c.709del,HIGH,YES,,,-1;ARHGAP1,frameshift_variant,p.L191Cfs*135,ENST00000528837,,c.569del,HIGH,,,,-1;ARHGAP1,downstream_gene_variant,,ENST00000525488,,,MODIFIER,,,,-1;ARHGAP1,non_coding_transcript_exon_variant,,ENST00000526423,,n.397del,MODIFIER,,,,-1","-","ENSG00000175220","ENST00000311956","Transcript","frameshift_variant","frameshift_variant","827/3395","709/1320","237/439","L/X","Ctg/tg",null,null,-1,"ARHGAP1","HGNC","HGNC:673","protein_coding","YES","CCDS7922.1","ENSP00000310491","Q07960.205",null,"UPI0000040691",null,"NM_004308.5","NM_004308.5","P1",{"$nulls":3},"2024-08-13",null,"PDB-ENSP_mappings:1am4.A;PDB-ENSP_mappings:1am4.B;PDB-ENSP_mappings:1am4.C;PDB-ENSP_mappings:1grn.B;PDB-ENSP_mappings:1ow3.A;PDB-ENSP_mappings:1rgp.A;PDB-ENSP_mappings:1tx4.A;PDB-ENSP_mappings:2ngr.B;PDB-ENSP_mappings:5m6x.A;PDB-ENSP_mappings:5m6x.H;PDB-ENSP_mappings:5m70.A;PDB-ENSP_mappings:5m70.F;PDB-ENSP_mappings:6r3v.A;Low_complexity_(Seg):seg;PANTHER:PTHR45808:SF6;PANTHER:PTHR45808;Gene3D:1.10.555.10;Superfamily:SSF48350",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"TGGGCAGGGGGG","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM1353983","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PRMT8",56341,"BI","GRCh38","chr12",3540614,3540614,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.90del","p.Ser31ProfsTer35","p.S31Pfs*35","ENST00000382622","2024-02-10",78,60,18,58,null,null,"PRMT8,frameshift_variant,p.S31Pfs*35,ENST00000382622,NM_019854.5,c.90del,HIGH,YES,,,1;PRMT8,frameshift_variant,p.S22Pfs*35,ENST00000452611,NM_001256536.1,c.63del,HIGH,,,,1;PRMT8,non_coding_transcript_exon_variant,,ENST00000261252,,n.509del,MODIFIER,,,,1;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,,n.457del,MODIFIER,,,,1","-","ENSG00000111218","ENST00000382622","Transcript","frameshift_variant","frameshift_variant","507/2399","84/1185","28/394","S/X","agC/ag",null,null,1,"PRMT8","HGNC","HGNC:5188","protein_coding","YES","CCDS8521.2","ENSP00000372067","Q9NR22.156",null,"UPI00005B2E00","Q9NR22-1","NM_019854.5","NM_019854.5","P1",{"$nulls":3},"2024-02-10",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR11006;PANTHER:PTHR11006:SF47",{"$nulls":41},"HIGH",1,"deletion",1,6,null,null,"GAACAGCCCCCC","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM1361279;COSM5093325","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["CYP1A2",1544,"BI","GRCh38","chr15",74755071,74755071,"+","Missense_Mutation","SNP","C","C","T","rs770266566",null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.1534C>T","p.Arg512Cys","p.R512C","ENST00000343932","2024-07-07",45,35,9,55,null,null,"CYP1A2,missense_variant,p.R512C,ENST00000343932,NM_000761.5,c.1534C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.985),1","T","ENSG00000140505","ENST00000343932","Transcript","missense_variant","missense_variant","1596/3132","1534/1551","512/516","R/C","Cgc/Tgc","rs770266566;COSV59659457",null,1,"CYP1A2","HGNC","HGNC:2596","protein_coding","YES","CCDS32293.1","ENSP00000342007","P05177.208",null,"UPI0000073775",null,"NM_000761.5","NM_000761.5","P1",null,"deleterious(0.02)","probably_damaging(0.985)","2024-07-07",null,"PDB-ENSP_mappings:2hi4.A;PANTHER:PTHR24299;PANTHER:PTHR24299:SF7;Gene3D:1.10.630.10",{"$nulls":8},"8.048e-06",0,"5.789e-05",0,0,0,0,0,0,"5.789e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGCTGCGCTTC","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,"COSM4056915","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACACA",31,"BI","GRCh38","chr17",37130212,37130212,"+","Missense_Mutation","SNP","C","C","T","rs996541210",null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.5686G>A","p.Gly1896Arg","p.G1896R","ENST00000616317","46/56",168,134,33,183,null,null,"ACACA,missense_variant,p.G1896R,ENST00000616317,NM_198834.3,c.5686G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;ACACA,missense_variant,p.G1801R,ENST00000612895,NM_198837.1,c.5401G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ACACA,missense_variant,p.G1859R,ENST00000614428,NM_198839.2&NM_198836.2,c.5575G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ACACA,missense_variant,p.G1781R,ENST00000617649,NM_198838.1,c.5341G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ACACA,missense_variant,p.G511R,ENST00000619546,,c.1531G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ACACA,3_prime_UTR_variant,,ENST00000614482,,c.*114G>A,MODIFIER,,,,-1","T","ENSG00000278540","ENST00000616317","Transcript","missense_variant","missense_variant","6223/10013","5686/7152","1896/2383","G/R","Ggg/Agg","rs996541210",null,-1,"ACACA","HGNC","HGNC:84","protein_coding","YES","CCDS42302.1","ENSP00000483300","Q13085.206",null,"UPI00002263AC","Q13085-4","NM_198834.3","NM_198834.3","A1",null,"deleterious(0)","probably_damaging(1)","46/56",null,"Gene3D:3.90.226.10;Pfam:PF01039;PROSITE_profiles:PS50980;PANTHER:PTHR45728;PANTHER:PTHR45728:SF5;Superfamily:SSF52096",{"$nulls":41},"MODERATE",1,"SNV",1,null,null,1,"CCGCCCGAGGA","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL18A1",80781,"BI","GRCh38","chr21",45480124,45480124,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-CG-5723","TCGA-CG-5723-11A-02D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"ffb4f42b-58e9-40c3-8963-11804f041375","e4834ec5-3085-4675-8d63-23f546b30799","c.2615del","p.Pro872GlnfsTer10","p.P872Qfs*10","ENST00000359759","10/41",36,30,5,42,null,null,"COL18A1,frameshift_variant,p.P872Qfs*10,ENST00000359759,NM_130444.3,c.2615del,HIGH,YES,,,1;COL18A1,frameshift_variant,p.P637Qfs*10,ENST00000355480,NM_030582.4,c.1910del,HIGH,,,,1;COL18A1,frameshift_variant,p.P457Qfs*10,ENST00000651438,NM_001379500.1,c.1370del,HIGH,,,,1;MIR6815,downstream_gene_variant,,ENST00000611994,,,MODIFIER,YES,,,1","-","ENSG00000182871","ENST00000359759","Transcript","frameshift_variant","frameshift_variant","2611/6586","2611/5265","871/1754","P/X","Ccc/cc","COSV100700816",null,1,"COL18A1","HGNC","HGNC:2195","protein_coding","YES","CCDS77643.1","ENSP00000352798","P39060.214",null,"UPI0001838820","P39060-3","NM_130444.3",null,"P1",{"$nulls":3},"10/41",null,"PANTHER:PTHR24023;PANTHER:PTHR24023:SF959;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",5,4,1,1,"CCAGGGCCCCCA","6915d8ad-335e-4690-952b-f6b6c798b5f1","7196b6ad-c4b2-442d-af21-5e605158ab64","0f00ad32-e4be-49d4-a02a-d233bfc913c5",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["KRTAP8-1",337879,"BI","GRCh38","chr21",30813143,30813143,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-VQ-A8E2","TCGA-VQ-A8E2-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"830888e7-ffcf-4145-92a1-8f649723c95e","57e6bffa-d7af-4d32-92b1-0a51b931434e","c.78C>G","p.Ser26Arg","p.S26R","ENST00000329621","2024-01-01",62,56,6,83,null,null,"KRTAP8-1,missense_variant,p.S26R,ENST00000329621,NM_175857.4,c.78C>G,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),-1","C","ENSG00000183640","ENST00000329621","Transcript","missense_variant","missense_variant","132/578","78/192","26/63","S/R","agC/agG","COSV100297813;COSV100297855",null,-1,"KRTAP8-1","HGNC","HGNC:18935","protein_coding","YES","CCDS13607.1","ENSP00000332805","Q8IUC2.109",null,"UPI00000747A5",null,"NM_175857.4","NM_175857.4","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.999)","2024-01-01",null,"PANTHER:PTHR36131;Pfam:PF11759",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"1;1",null,"CCAACGCTATA","77dd0c41-92ad-452c-b4f9-e7f4207012d3","18682d90-a472-4cec-bed9-64c3842484fd","c16eed96-8da8-4d01-b87d-660f46172777",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADAMTS1",9510,"BI","GRCh38","chr21",26842517,26842517,"+","Missense_Mutation","SNP","T","T","C","rs770859188",null,"TCGA-D7-8573","TCGA-D7-8573-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"d708deec-6b8e-4d4b-ab32-3bbb564038a9","1c3ae5aa-6b14-4794-9910-435917bdf4d4","c.899A>G","p.Asn300Ser","p.N300S","ENST00000284984","2024-02-09",61,43,18,67,null,null,"ADAMTS1,missense_variant,p.N300S,ENST00000284984,NM_006988.5,c.899A>G,MODERATE,YES,deleterious(0),benign(0.369),-1;ADAMTS1,missense_variant,p.N300S,ENST00000676955,,c.899A>G,MODERATE,,deleterious(0.03),probably_damaging(0.917),-1;ADAMTS1,missense_variant,p.N38S,ENST00000517777,,c.113A>G,MODERATE,,deleterious(0.02),benign(0.369),-1;ADAMTS1,missense_variant,p.N38S,ENST00000678221,,c.113A>G,MODERATE,,deleterious(0.02),benign(0.369),-1;ADAMTS1,missense_variant,p.N38S,ENST00000451462,,c.113A>G,MODERATE,,deleterious(0.02),benign(0.369),-1;ADAMTS1,missense_variant,p.N62S,ENST00000679152,,c.185A>G,MODERATE,,deleterious(0.02),benign(0.181),-1;ADAMTS1,missense_variant,p.N300S,ENST00000677958,,c.899A>G,MODERATE,,deleterious(0),possibly_damaging(0.681),-1;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000679316,,n.1354A>G,MODIFIER,,,,-1;ADAMTS1,upstream_gene_variant,,ENST00000464589,,,MODIFIER,,,,-1;ADAMTS1,upstream_gene_variant,,ENST00000492656,,,MODIFIER,,,,-1","C","ENSG00000154734","ENST00000284984","Transcript","missense_variant","missense_variant","1354/5183","899/2904","300/967","N/S","aAt/aGt","rs770859188;COSV53173406",null,-1,"ADAMTS1","HGNC","HGNC:217","protein_coding","YES","CCDS33524.1","ENSP00000284984","Q9UHI8.192",null,"UPI000013DDC6",null,"NM_006988.5","NM_006988.5","P1",null,"deleterious(0)","benign(0.369)","2024-02-09",null,"PDB-ENSP_mappings:2jih.A;PDB-ENSP_mappings:2jih.B;PDB-ENSP_mappings:2v4b.A;PDB-ENSP_mappings:2v4b.B;PDB-ENSP_mappings:3q2g.A;PDB-ENSP_mappings:3q2g.B;PDB-ENSP_mappings:3q2h.A;PDB-ENSP_mappings:3q2h.B;PROSITE_profiles:PS50215;CDD:cd04273;PANTHER:PTHR13723:SF40;PANTHER:PTHR13723;Pfam:PF01421;Gene3D:3.40.390.10;Superfamily:SSF55486",{"$nulls":8},"1.988e-05",0,0,0,0.0002718,0,0,0,0,0.0002718,"gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CTGAATTACGA","8d19a8b7-db8f-42e3-b5cd-ebeccbea6d72","3553caea-5a85-433e-b55b-0bb31bd7574e","e4344668-5a50-4dde-8eec-f4d7f01f99fd",null,"COSM4100961","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAPRE3",22924,"BI","GRCh38","chr2",27025649,27025649,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.543del","p.Cys182AlafsTer31","p.C182Afs*31","ENST00000233121","2024-05-07",73,61,12,62,null,null,"MAPRE3,frameshift_variant,p.C182Afs*31,ENST00000233121,NM_012326.4&NM_001303050.2,c.543del,HIGH,YES,,,1;MAPRE3,frameshift_variant,p.C167Afs*31,ENST00000405074,,c.498del,HIGH,,,,1;MAPRE3,frameshift_variant,p.C167Afs*31,ENST00000648289,,c.498del,HIGH,,,,1;MAPRE3,frameshift_variant,p.C167Afs*31,ENST00000402218,,c.498del,HIGH,,,,1;MAPRE3,frameshift_variant,p.C182Afs*31,ENST00000458529,,c.543del,HIGH,,,,1;MAPRE3,downstream_gene_variant,,ENST00000491354,,,MODIFIER,,,,1;MAPRE3,downstream_gene_variant,,ENST00000474367,,,MODIFIER,,,,1;MAPRE3,downstream_gene_variant,,ENST00000475633,,,MODIFIER,,,,1;MAPRE3,downstream_gene_variant,,ENST00000481222,,,MODIFIER,,,,1;MAPRE3,downstream_gene_variant,,ENST00000494788,,,MODIFIER,,,,1","-","ENSG00000084764","ENST00000233121","Transcript","frameshift_variant","frameshift_variant","709/1890","536/846","179/281","A/X","gCc/gc",null,null,1,"MAPRE3","HGNC","HGNC:6892","protein_coding","YES","CCDS1731.1","ENSP00000233121","Q9UPY8.186",null,"UPI000012EB1C","Q9UPY8-1","NM_012326.4;NM_001303050.2","NM_012326.4","P3",{"$nulls":3},"2024-05-07",null,"PDB-ENSP_mappings:3jak.M;PDB-ENSP_mappings:3jak.N;PDB-ENSP_mappings:3jal.M;PDB-ENSP_mappings:3jal.N;PDB-ENSP_mappings:3jar.M;PDB-ENSP_mappings:3jar.N;PANTHER:PTHR10623;PANTHER:PTHR10623:SF10",{"$nulls":41},"HIGH",1,"deletion",1,7,null,null,"ATGTGGCCCCCC","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,"COSM1407330","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PURA",5813,"BI","GRCh38","chr5",140114819,140114819,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.638A>C","p.Glu213Ala","p.E213A","ENST00000331327","2024-01-01",61,43,18,48,null,null,"PURA,missense_variant,p.E213A,ENST00000331327,NM_005859.5,c.638A>C,MODERATE,YES,tolerated(0.08),benign(0.255),1;PURA,missense_variant,p.E213A,ENST00000651386,,c.638A>C,MODERATE,,tolerated(0.08),benign(0.255),1;PURA,downstream_gene_variant,,ENST00000502351,,,MODIFIER,,,,1;PURA,downstream_gene_variant,,ENST00000505703,,,MODIFIER,,,,1","C","ENSG00000185129","ENST00000331327","Transcript","missense_variant","missense_variant","711/11511","638/969","213/322","E/A","gAg/gCg","COSV58762244",null,1,"PURA","HGNC","HGNC:9701","protein_coding","YES","CCDS4220.1","ENSP00000332706","Q00577.171",null,"UPI0000132B76",null,"NM_005859.5","NM_005859.5","P1",null,"tolerated(0.08)","benign(0.255)","2024-01-01",null,"PANTHER:PTHR12611:SF2;PANTHER:PTHR12611;Pfam:PF04845;Gene3D:3.10.450.700",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,1,"GGAGGAGGAGC","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,"COSM3850582","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBC1D13",54662,"BI","GRCh38","chr9",128797202,128797202,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.531T>G","p.Ser177Arg","p.S177R","ENST00000372648","2024-07-12",122,108,14,125,null,null,"TBC1D13,missense_variant,p.S177R,ENST00000372648,NM_018201.5,c.531T>G,MODERATE,YES,tolerated(0.35),benign(0.167),1;TBC1D13,missense_variant,p.S177R,ENST00000223865,NM_001286772.1,c.531T>G,MODERATE,,tolerated(0.35),possibly_damaging(0.514),1;TBC1D13,non_coding_transcript_exon_variant,,ENST00000466056,,n.628T>G,MODIFIER,,,,1;TBC1D13,downstream_gene_variant,,ENST00000475097,,,MODIFIER,,,,1","G","ENSG00000107021","ENST00000372648","Transcript","missense_variant","missense_variant","632/3855","531/1203","177/400","S/R","agT/agG","COSV56354421",null,1,"TBC1D13","HGNC","HGNC:25571","protein_coding","YES","CCDS6911.1","ENSP00000361731","Q9NVG8.137","A0A024R8C8.36","UPI000013E816","Q9NVG8-1","NM_018201.5","NM_018201.5","P1",null,"tolerated(0.35)","benign(0.167)","2024-07-12",null,"PROSITE_profiles:PS50086;Gene3D:1.10.8.270;SMART:SM00164;Superfamily:SSF47923",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CGGAGTGGGGT","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,"COSM3904577","N","Unknown",{"$nulls":3},"muse;mutect2"]
["FOXG1",2290,"BI","GRCh38","chr14",28768049,28768049,"+","Missense_Mutation","SNP","T","T","C","rs1555321353",null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.770T>C","p.Leu257Pro","p.L257P","ENST00000313071","2024-01-01",74,66,8,65,null,null,"FOXG1,missense_variant,p.L257P,ENST00000313071,NM_005249.5,c.770T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;AL049777.1,intron_variant,,ENST00000675861,,n.374+2036T>C,MODIFIER,YES,,,1;LINC01551,upstream_gene_variant,,ENST00000399387,,,MODIFIER,,,,1;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,,,MODIFIER,,,,-1;LINC01551,upstream_gene_variant,,ENST00000548213,,,MODIFIER,,,,1;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,,,MODIFIER,,,,-1;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,,,MODIFIER,,,,-1;LINC01551,upstream_gene_variant,,ENST00000552957,,,MODIFIER,,,,1;LINC01551,upstream_gene_variant,,ENST00000622740,,,MODIFIER,YES,,,1;FOXG1-AS1,upstream_gene_variant,,ENST00000658593,,,MODIFIER,,,,-1;LINC01551,upstream_gene_variant,,ENST00000668749,,,MODIFIER,,,,1;AL049777.1,upstream_gene_variant,,ENST00000675070,,,MODIFIER,,,,1","C","ENSG00000176165","ENST00000313071","Transcript","missense_variant","missense_variant","1263/3491","770/1470","257/489","L/P","cTg/cCg","rs1555321353",null,1,"FOXG1","HGNC","HGNC:3811","protein_coding","YES","CCDS9636.1","ENSP00000339004","P55316.169",null,"UPI00001AE46C",null,"NM_005249.5","NM_005249.5","P1",null,"deleterious(0)","probably_damaging(1)","2024-01-01",null,"CDD:cd00059;Gene3D:1.10.10.10;Pfam:PF00250;SMART:SM00339;Superfamily:SSF46785;PROSITE_profiles:PS50039;PANTHER:PTHR46617:SF3;PANTHER:PTHR46617",{"$nulls":32},"pathogenic",{"$nulls":8},"MODERATE",1,"SNV",null,null,1,1,"GATGCTGGACC","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF609",23060,"BI","GRCh38","chr15",64674928,64674928,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.2074G>A","p.Ala692Thr","p.A692T","ENST00000326648","2024-04-09",188,144,44,196,null,null,"ZNF609,missense_variant,p.A692T,ENST00000326648,NM_015042.2,c.2074G>A,MODERATE,YES,deleterious(0.04),benign(0.009),1;RNU6-549P,downstream_gene_variant,,ENST00000384433,,,MODIFIER,YES,,,1;ZNF609,downstream_gene_variant,,ENST00000558680,,,MODIFIER,,,,1;ZNF609,downstream_gene_variant,,ENST00000559364,,,MODIFIER,,,,1","A","ENSG00000180357","ENST00000326648","Transcript","missense_variant","missense_variant","2202/8746","2074/4236","692/1411","A/T","Gca/Aca","COSV58583526",null,1,"ZNF609","HGNC","HGNC:29003","protein_coding","YES","CCDS32270.1","ENSP00000316527","O15014.142",null,"UPI00001D7783","O15014-1","NM_015042.2",null,"P1",null,"deleterious(0.04)","benign(0.009)","2024-04-09",null,"PANTHER:PTHR21564;PANTHER:PTHR21564:SF2;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CAGTGGCACAA","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,"COSM4056216","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYADM",91663,"BI","GRCh38","chr19",53873549,53873549,"+","Missense_Mutation","SNP","G","G","A","rs757660078",null,"TCGA-BR-6852","TCGA-BR-6852-10A-01D-1882-08",{"$nulls":8},"Somatic",{"$nulls":6},"6f6202ce-fb91-4f83-9730-d202b75ea0ec","a2afd338-d1be-4d45-9492-fb7ddf655adb","c.20G>A","p.Arg7His","p.R7H","ENST00000336967","2024-03-03",109,84,25,93,null,null,"MYADM,missense_variant,p.R7H,ENST00000391769,NM_001290189.1&NM_001020818.2&NM_001020821.2,c.20G>A,MODERATE,YES,tolerated(0.78),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000391771,NM_001020819.2,c.20G>A,MODERATE,,tolerated(0.78),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000391770,NM_001290193.2&NM_001290192.2&NM_138373.5&NM_001290191.2&NM_001290194.2&NM_001290190.1,c.20G>A,MODERATE,,tolerated(0.78),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000421337,NM_001290188.2&NM_001020820.3,c.20G>A,MODERATE,,tolerated(0.78),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000391768,,c.20G>A,MODERATE,,tolerated(0.78),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000336967,,c.20G>A,MODERATE,,tolerated_low_confidence(0.48),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000439000,,c.20G>A,MODERATE,,tolerated_low_confidence(0.65),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000651087,,c.20G>A,MODERATE,,tolerated_low_confidence(0.37),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000448420,,c.20G>A,MODERATE,,tolerated_low_confidence(0.61),benign(0),1;MYADM,missense_variant,p.R7H,ENST00000414489,,c.20G>A,MODERATE,,tolerated_low_confidence(0.46),benign(0),1;AC008440.1,downstream_gene_variant,,ENST00000413496,,,MODIFIER,YES,,,-1;MYADM-AS1,upstream_gene_variant,,ENST00000455835,,,MODIFIER,YES,,,-1","A","ENSG00000179820","ENST00000336967","Transcript","missense_variant","missense_variant","252/843","20/611","7/203","R/H","cGc/cAc","rs757660078;COSV61238598",null,1,"MYADM","HGNC","HGNC:7544","protein_coding",null,null,"ENSP00000337222",null,"A0A499FIY8.6","UPI001085931E",{"$nulls":4},"cds_end_NF","tolerated_low_confidence(0.48)","benign(0)","2024-03-03",null,"Low_complexity_(Seg):seg;PANTHER:PTHR17068;PANTHER:PTHR17068:SF3",{"$nulls":8},"3.246e-05",0,0,0,1.099E-4,0,"2.712e-05",1.663E-4,"6.586e-05",1.663E-4,"gnomAD_OTH","2.7062100343755446e-05","4.870209886576049e-05",0,0,0,0,0,0,"1.5433999578817748e-05",0,0.000208854995435103,"4.870209886576049e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"AACCCGCACCA","e1d78db8-e56a-4e78-9dcb-6b6bc7f132f9","b98629dc-e791-4145-b622-8f7fe51b4555","44799c67-61cd-4f3e-bdbc-423e2e0fd2e8",null,"COSM2929150","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TGIF2LY",90655,"BI","GRCh38","chrY",3579563,3579563,"+","Missense_Mutation","SNP","C","C","T","rs367841917",null,"TCGA-VQ-A92D","TCGA-VQ-A92D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"ce600dcb-2e88-4018-a9b6-0841e87f5d71","2f6e01ac-6bb1-48be-901e-7dfb64462d8d","c.319C>T","p.Arg107Cys","p.R107C","ENST00000321217","2024-02-02",71,25,46,70,null,null,"TGIF2LY,missense_variant,p.R107C,ENST00000559055,,c.319C>T,MODERATE,YES,tolerated(0.08),possibly_damaging(0.88),1;TGIF2LY,missense_variant,p.R107C,ENST00000321217,NM_139214.3,c.319C>T,MODERATE,,tolerated(0.08),possibly_damaging(0.88),1","T","ENSG00000176679","ENST00000321217","Transcript","missense_variant","missense_variant","401/879","319/558","107/185","R/C","Cgc/Tgc","rs367841917;COSV100339616",null,1,"TGIF2LY","HGNC","HGNC:18569","protein_coding",null,"CCDS14775.1","ENSP00000318502","Q8IUE0.143",null,"UPI0000074794",null,"NM_139214.3","NM_139214.3","P1",null,"tolerated(0.08)","possibly_damaging(0.88)","2024-02-02",null,"PROSITE_profiles:PS50071;CDD:cd00086;PANTHER:PTHR11850;PANTHER:PTHR11850:SF205;Gene3D:1.10.10.60;Pfam:PF05920;SMART:SM00389;Superfamily:SSF46689",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCAGACGCATT","e2850cf1-bfef-488f-889e-f1eba3ba2669","cf5ed740-06dd-4769-85b7-b9ca0b4e0068","aba9439a-ea8d-404f-9faf-eb71a306684d",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NBEA",26960,"BI","GRCh38","chr13",35655611,35655611,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-FP-8211","TCGA-FP-8211-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"479cf699-65e0-4a01-8183-314eb85c1b45","14408e43-3d4b-4db1-9d2f-22924b798223","c.8161G>C","p.Asp2721His","p.D2721H","ENST00000400445","54/58",257,190,66,379,null,null,"NBEA,missense_variant,p.D2721H,ENST00000400445,NM_015678.5,c.8161G>C,MODERATE,,deleterious(0.01),possibly_damaging(0.808),1;NBEA,missense_variant,p.D2722H,ENST00000310336,,c.8164G>C,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),1;NBEA,missense_variant,p.D2721H,ENST00000629018,,c.8161G>C,MODERATE,,deleterious(0.01),probably_damaging(0.985),1;NBEA,missense_variant,p.D2718H,ENST00000379939,NM_001379245.1,c.8152G>C,MODERATE,,deleterious(0.01),probably_damaging(0.997),1;NBEA,missense_variant,p.D514H,ENST00000537702,NM_001204197.3,c.1540G>C,MODERATE,,deleterious(0),possibly_damaging(0.808),1;NBEA,missense_variant,p.D299H,ENST00000379922,,c.895G>C,MODERATE,,deleterious(0),probably_damaging(0.996),1","C","ENSG00000172915","ENST00000400445","Transcript","missense_variant","missense_variant","8695/11119","8161/8841","2721/2946","D/H","Gat/Cat","COSV59794175",null,1,"NBEA","HGNC","HGNC:7648","protein_coding",null,"CCDS45026.1","ENSP00000383295","Q8NFP9.176",null,"UPI00004FF92F",null,"NM_015678.5",null,"P4",null,"deleterious(0.01)","possibly_damaging(0.808)","54/58",null,"Superfamily:SSF50978;SMART:SM00320;PANTHER:PTHR13743;PANTHER:PTHR13743:SF62",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"ATTGGGATGTG","bed85d45-764f-4ef2-a22c-073fd4cb6251","9b86ee4f-c203-47a3-bb39-5bbbdc302323","0b1663fc-6a7e-4698-951d-a8c90fdf2411",null,"COSM4047264;COSM4047265;COSM4047266","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CD1C",911,"BI","GRCh38","chr1",158291227,158291227,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-A4QI","TCGA-BR-A4QI-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"699db1f3-e03d-4f08-89c9-40a77a78c2f1","9e553223-b1fc-43e1-b357-3f22bc1e89f5","c.155A>T","p.Glu52Val","p.E52V","ENST00000368170","2024-02-06",69,46,23,107,null,null,"CD1C,missense_variant,p.E52V,ENST00000368170,NM_001765.3,c.155A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.579),1;CD1C,upstream_gene_variant,,ENST00000443761,,,MODIFIER,,,,1","T","ENSG00000158481","ENST00000368170","Transcript","missense_variant","missense_variant","297/2442","155/1002","52/333","E/V","gAg/gTg","COSV63805992",null,1,"CD1C","HGNC","HGNC:1636","protein_coding","YES","CCDS1175.1","ENSP00000357152","P29017.178",null,"UPI000013DF78",null,"NM_001765.3","NM_001765.3","P1",null,"deleterious(0)","possibly_damaging(0.579)","2024-02-06",null,"Gene3D:3.30.500.10;PDB-ENSP_mappings:3ov6.A;PDB-ENSP_mappings:4ono.A;PDB-ENSP_mappings:5c9j.A;PDB-ENSP_mappings:6c09.A;PDB-ENSP_mappings:6c15.A;Pfam:PF16497;PANTHER:PTHR16675;PANTHER:PTHR16675:SF155;Superfamily:SSF54452",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGACGAGTTGC","b33241f5-4911-4a8f-a7b4-a466183d9f27","bd0c55b4-9e6c-4794-88ef-3c3a5ed51df1","8bb9cfd8-7012-41b1-8aa1-b6592b0c0d43",null,"COSM4023656","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR4C15",81309,"BI","GRCh38","chr11",55554471,55554471,"+","Missense_Mutation","SNP","G","G","A","rs1268796611",null,"TCGA-EQ-A4SO","TCGA-EQ-A4SO-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"150bfa0c-8ae2-4735-acd2-5bb2335b6e21","589cddca-4530-41cd-a340-24518989d830","c.165G>A","p.Met55Ile","p.M55I","ENST00000314644","2024-01-01",102,62,40,108,null,null,"OR4C15,start_lost,p.M1?,ENST00000642128,NM_001001920.2,c.3G>A,HIGH,,deleterious_low_confidence(0.01),probably_damaging(0.995),1;OR4C15,missense_variant,p.M55I,ENST00000314644,,c.165G>A,MODERATE,YES,deleterious_low_confidence(0.01),possibly_damaging(0.897),1","A","ENSG00000181939","ENST00000314644","Transcript","missense_variant","missense_variant","165/1113","165/1113","55/370","M/I","atG/atA","rs1268796611;COSV58951489;COSV58954298",null,1,"OR4C15","HGNC","HGNC:15171","protein_coding","YES","CCDS31501.1","ENSP00000324958",null,"A0A2C9F2M4.16","UPI00003B288E",{"$nulls":3},"A2",null,"deleterious_low_confidence(0.01)","possibly_damaging(0.897)","2024-01-01",null,"Transmembrane_helices:TMhelix;Superfamily:SSF81321",{"$nulls":8},"1.993e-05",0,0,0,"5.438e-05",0,0,0,0.0001307,0.0001307,"gnomAD_SAS","1.3525599570129998e-05",0,0,0,0,0,0,0,0,0,0.000417188013670966,0.000417188013670966,"sas",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1;1",null,"AACATGCAAAA","af7d3602-a7d7-46c8-b68a-54c01f0c0bf8","f9a422c6-b7c2-4407-9e4b-a2c6eb5f8945","fe1ad544-3189-4495-86be-0c68f3234238",null,"COSM4033610","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GOLGA3",2802,"BI","GRCh38","chr12",132786523,132786523,"+","Missense_Mutation","SNP","C","C","T","rs748737914",null,"TCGA-KB-A93H","TCGA-KB-A93H-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"ba30961b-f4c7-4f74-9e19-e573ab362bfe","9d4193ba-ce45-4aba-98f6-786129d64ad5","c.2939G>A","p.Arg980Gln","p.R980Q","ENST00000204726","15/24",12,6,6,28,null,null,"GOLGA3,missense_variant,p.R980Q,ENST00000204726,NM_005895.4,c.2939G>A,MODERATE,YES,tolerated(0.16),benign(0.105),-1;GOLGA3,missense_variant,p.R980Q,ENST00000450791,,c.2939G>A,MODERATE,,tolerated(0.16),benign(0.105),-1;GOLGA3,missense_variant,p.R980Q,ENST00000456883,,c.2939G>A,MODERATE,,tolerated(0.17),benign(0.049),-1;GOLGA3,missense_variant,p.R980Q,ENST00000545875,NM_001172557.2,c.2939G>A,MODERATE,,tolerated(0.18),benign(0.039),-1","T","ENSG00000090615","ENST00000204726","Transcript","missense_variant","missense_variant","3665/9414","2939/4497","980/1498","R/Q","cGg/cAg","rs748737914;COSV99209929",null,-1,"GOLGA3","HGNC","HGNC:4426","protein_coding","YES","CCDS9281.1","ENSP00000204726","Q08378.183",null,"UPI0000190979","Q08378-1","NM_005895.4",null,"P3",null,"tolerated(0.16)","benign(0.105)","15/24",null,"MobiDB_lite:mobidb-lite;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18902;PANTHER:PTHR18902:SF26",{"$nulls":8},"8.003e-06",0,0,0,0,0,"8.871e-06",0,"3.268e-05","3.268e-05","gnomAD_SAS","6.769930223526899e-06",0,0,0,0,0.000202511000679805,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"CCAGCCGCCTC","6420145b-d2d3-4352-9efd-3aa5c930f111","38dccc07-0cb2-4bf5-bebf-432151d1e1d3","de865002-4938-4120-aa15-254fd40f2039",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["SLU7",10569,"BI","GRCh38","chr5",160403383,160403383,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-FP-8210","TCGA-FP-8210-11A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"684ff3b4-a44b-46c5-8739-8dfcf614e534","5e6337c8-d4d5-48d8-9311-f286f2126e4e","c.1663A>T","p.Met555Leu","p.M555L","ENST00000297151","16/16",127,120,7,136,null,null,"SLU7,missense_variant,p.M555L,ENST00000297151,NM_001364517.2&NM_006425.5&NM_001364521.2&NM_001364520.2&NM_001364523.2&NM_001364518.2&NM_001364522.2,c.1663A>T,MODERATE,YES,tolerated(0.78),benign(0),-1;ZBED8,upstream_gene_variant,,ENST00000408953,NM_022090.5,,MODIFIER,YES,,,-1;ZBED8,upstream_gene_variant,,ENST00000523213,NM_001303251.1,,MODIFIER,,,,-1;SLU7,non_coding_transcript_exon_variant,,ENST00000521320,,n.262A>T,MODIFIER,,,,-1;SLU7,downstream_gene_variant,,ENST00000520841,,,MODIFIER,,,,-1;SLU7,downstream_gene_variant,,ENST00000523219,,,MODIFIER,,,,-1","A","ENSG00000164609","ENST00000297151","Transcript","missense_variant","missense_variant","1738/3480","1663/1761","555/586","M/L","Atg/Ttg","COSV51789254",null,-1,"SLU7","HGNC","HGNC:16939","protein_coding","YES","CCDS4352.1","ENSP00000297151","O95391.144",null,"UPI000013E3CE",null,"NM_001364517.2;NM_006425.5;NM_001364521.2;NM_001364520.2;NM_001364523.2;NM_001364518.2;NM_001364522.2","NM_006425.5","P1",null,"tolerated(0.78)","benign(0)","16/16",null,"PDB-ENSP_mappings:5xjc.Z;PDB-ENSP_mappings:6icz.Z;PDB-ENSP_mappings:6qdv.c;PANTHER:PTHR12942;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":19},"6.758949893992394e-06",0,0,0,0,0.000201693997951224,0,0,0,0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATACATGCTAT","12419252-0a6a-4f55-9b31-d9d6eba2f2fa","c28d59e9-369c-496e-99f0-5b1a7c7fff5d","92654ad8-156c-4dd1-862e-dc339240d721",null,"COSM3853342","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PSMF1",9491,"BI","GRCh38","chr20",1127426,1127426,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A91X","TCGA-VQ-A91X-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf1a1e33-16d8-4070-af3d-cb4e51163de7","5783f3bd-54fb-4630-8951-ffd970952e01","c.283G>A","p.Glu95Lys","p.E95K","ENST00000333082","2024-04-08",138,126,12,160,null,null,"PSMF1,missense_variant,p.E95K,ENST00000335877,NM_001323409.2&NM_006814.5,c.283G>A,MODERATE,YES,tolerated(0.22),benign(0.363),1;PSMF1,missense_variant,p.E95K,ENST00000333082,NM_178578.3,c.283G>A,MODERATE,,tolerated(0.22),benign(0.363),1;PSMF1,missense_variant,p.E95K,ENST00000246015,NM_001323407.2&NM_001323410.2&NM_001323408.2,c.283G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.465),1;PSMF1,missense_variant,p.E95K,ENST00000381899,,c.283G>A,MODERATE,,deleterious(0.03),benign(0.363),1;PSMF1,splice_region_variant,,ENST00000479715,,n.258G>A,LOW,,,,1;PSMF1,intron_variant,,ENST00000478004,,n.446+1776G>A,MODIFIER,,,,1;PSMF1,missense_variant,p.E95K,ENST00000652336,,c.283G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.465),1","A","ENSG00000125818","ENST00000333082","Transcript","missense_variant","missense_variant;splice_region_variant","451/3686","283/816","95/271","E/K","Gaa/Aaa","COSV55675514;COSV99850646",null,1,"PSMF1","HGNC","HGNC:9571","protein_coding",null,"CCDS13010.1","ENSP00000327704","Q92530.174","A0A140VJT2.18","UPI000013CBCB",null,"NM_178578.3",null,"P1",null,"tolerated(0.22)","benign(0.363)","2024-04-08",null,"PDB-ENSP_mappings:2vt8.A;PDB-ENSP_mappings:2vt8.B;Gene3D:3.40.1000.30;PDB-ENSP_mappings:4ouh.A;PDB-ENSP_mappings:4ouh.B;PDB-ENSP_mappings:4ouh.C;PDB-ENSP_mappings:4ouh.D;Pfam:PF11566;PANTHER:PTHR13266",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"TCTAGGAATAT","b77d8bd2-802a-455e-86bb-74fec18e65f9","961be45d-620b-4412-a87d-3cc483770e35","4b56b93e-934c-45ff-9d24-b4b6812a790b",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF599",148103,"BI","GRCh38","chr19",34759854,34759854,"+","Missense_Mutation","SNP","C","C","A","rs1273586911",null,"TCGA-VQ-AA69","TCGA-VQ-AA69-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"a12461dd-9ccd-4b7f-9c73-646043bd9c6a","178d1512-83c7-45a8-8529-cd367fb47b24","c.947G>T","p.Cys316Phe","p.C316F","ENST00000329285","2024-04-04",77,46,30,88,null,null,"ZNF599,missense_variant,p.C316F,ENST00000329285,NM_001007248.3,c.947G>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;ZNF599,downstream_gene_variant,,ENST00000587354,,,MODIFIER,,,,-1;ZNF599,3_prime_UTR_variant,,ENST00000673678,,c.*947G>T,MODIFIER,,,,-1","A","ENSG00000153896","ENST00000329285","Transcript","missense_variant","missense_variant","1321/3102","947/1767","316/588","C/F","tGt/tTt","rs1273586911;COSV100251218;COSV61395938",null,-1,"ZNF599","HGNC","HGNC:26408","protein_coding","YES","CCDS32991.1","ENSP00000333802","Q96NL3.152",null,"UPI0000071186","Q96NL3-1","NM_001007248.3","NM_001007248.3","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-04-04",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381:SF20;SMART:SM00355",{"$nulls":19},"6.760690212104237e-06","2.4329699954250827e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1;1",1,"TCCCACATTCT","af962ffb-4854-44e5-893f-a9d997ab576e","0b53d29e-5956-4527-b79a-f0a5a4ef2430","46874009-4b32-43ff-a36a-236a3ca28fef",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACVR2A",92,"BI","GRCh38","chr2",147926117,147926117,"+","Frame_Shift_Del","DEL","A","A","-","rs764719749",null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.1310del","p.Lys437ArgfsTer5","p.K437Rfs*5","ENST00000241416","2024-10-11",68,20,48,110,null,null,"ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000241416,NM_001616.5,c.1310del,HIGH,YES,,,1;ACVR2A,frameshift_variant,p.K329Rfs*5,ENST00000535787,NM_001278580.1,c.986del,HIGH,,,,1;ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000404590,NM_001278579.2,c.1310del,HIGH,,,,1;ORC4,downstream_gene_variant,,ENST00000264169,NM_181742.3,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000392857,NM_181741.4&NM_002552.5,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000535373,NM_001374270.1&NM_001190879.2,,MODIFIER,YES,,,-1;ORC4,downstream_gene_variant,,ENST00000536575,NM_001374272.1&NM_001190881.2,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000540442,NM_001190882.2,,MODIFIER,,,,-1;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,,n.438del,MODIFIER,,,,1","-","ENSG00000121989","ENST00000241416","Transcript","frameshift_variant","frameshift_variant","1427/5214","1303/1542","435/513","K/X","Aaa/aa","rs764719749;COSV104385546",null,1,"ACVR2A","HGNC","HGNC:173","protein_coding","YES","CCDS33301.1","ENSP00000241416","P27037.208",null,"UPI0000126673","P27037-1","NM_001616.5","NM_001616.5","P1",{"$nulls":3},"2024-10-11",null,"PDB-ENSP_mappings:3q4t.A;PDB-ENSP_mappings:3q4t.B;PDB-ENSP_mappings:3soc.A;PDB-ENSP_mappings:3soc.B;PDB-ENSP_mappings:4asx.A;PDB-ENSP_mappings:4asx.B;CDD:cd14141;Pfam:PF00069;Gene3D:1.10.510.10;SMART:SM00220;Superfamily:SSF56112;PROSITE_profiles:PS50011;PANTHER:PTHR23255:SF64;PANTHER:PTHR23255",{"$nulls":8},"1.215e-05",0,"5.946e-05",0,0,0,"8.926e-06",0,0,"5.946e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",1,"GTGCATAAAAAA","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM252949","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["C6",729,"BI","GRCh38","chr5",41181458,41181458,"+","Frame_Shift_Del","DEL","C","C","-","rs372345940",null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.828del","p.Ser277AlafsTer43","p.S277Afs*43","ENST00000263413","2024-07-18",43,29,14,71,null,null,"C6,frameshift_variant,p.S277Afs*43,ENST00000337836,NM_000065.5,c.828del,HIGH,YES,,,-1;C6,frameshift_variant,p.S277Afs*43,ENST00000263413,NM_001115131.3,c.828del,HIGH,,,,-1;C6,non_coding_transcript_exon_variant,,ENST00000475349,,n.227del,MODIFIER,,,,-1","-","ENSG00000039537","ENST00000263413","Transcript","frameshift_variant","frameshift_variant","1093/3661","828/2805","276/934","G/X","ggG/gg","rs372345940;CD982526;COSV54718324",null,-1,"C6","HGNC","HGNC:1339","protein_coding",null,"CCDS3936.1","ENSP00000263413","P13671.202",null,"UPI000013D401",null,"NM_001115131.3",null,"P1",{"$nulls":3},"2024-07-18",null,"PDB-ENSP_mappings:3t5o.A;PDB-ENSP_mappings:4a5w.B;PDB-ENSP_mappings:4e0s.B;PDB-ENSP_mappings:6h03.B;PDB-ENSP_mappings:6h04.B;PROSITE_profiles:PS51412;PANTHER:PTHR45742;PANTHER:PTHR45742:SF4;Low_complexity_(Seg):seg",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;0;1",{"$nulls":7},"HIGH",null,"deletion",1,null,"0;1;1",1,"AGAGCTCCCCCC","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM2690416","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PHF20L1",51105,"BI","GRCh38","chr8",132817479,132817479,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.1513A>G","p.Thr505Ala","p.T505A","ENST00000395386","2024-12-21",82,74,7,51,null,null,"PHF20L1,missense_variant,p.T505A,ENST00000395386,NM_016018.5,c.1513A>G,MODERATE,YES,tolerated(0.8),benign(0.003),1;PHF20L1,missense_variant,p.T480A,ENST00000395390,,c.1438A>G,MODERATE,,tolerated(0.9),benign(0),1;PHF20L1,missense_variant,p.T505A,ENST00000622263,,c.1513A>G,MODERATE,,tolerated(0.8),benign(0.003),1;PHF20L1,missense_variant,p.T479A,ENST00000220847,NM_001362971.1&NM_001277196.2,c.1435A>G,MODERATE,,tolerated_low_confidence(0.94),benign(0),1;PHF20L1,missense_variant,p.T25A,ENST00000460236,,c.73A>G,MODERATE,,tolerated_low_confidence(0.34),benign(0.015),1;PHF20L1,3_prime_UTR_variant,,ENST00000486199,,c.*512A>G,MODIFIER,,,,1;PHF20L1,non_coding_transcript_exon_variant,,ENST00000469979,,n.7591A>G,MODIFIER,,,,1;PHF20L1,non_coding_transcript_exon_variant,,ENST00000361997,,n.1746A>G,MODIFIER,,,,1;PHF20L1,non_coding_transcript_exon_variant,,ENST00000395383,,n.1832A>G,MODIFIER,,,,1;PHF20L1,non_coding_transcript_exon_variant,,ENST00000315808,,n.1796A>G,MODIFIER,,,,1;PHF20L1,non_coding_transcript_exon_variant,,ENST00000522253,,n.434A>G,MODIFIER,,,,1;PHF20L1,downstream_gene_variant,,ENST00000395374,,,MODIFIER,,,,1","G","ENSG00000129292","ENST00000395386","Transcript","missense_variant","missense_variant","1808/6233","1513/3054","505/1017","T/A","Aca/Gca","COSV55199245",null,1,"PHF20L1","HGNC","HGNC:24280","protein_coding","YES","CCDS6367.2","ENSP00000378784","A8MW92.107",null,"UPI0000DBD7AF","A8MW92-1","NM_016018.5","NM_016018.5","P4",null,"tolerated(0.8)","benign(0.003)","2024-12-21",null,"PANTHER:PTHR15856;PANTHER:PTHR15856:SF26;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"AGGATACACAG","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM3896892;COSM3896893","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MARK2",2011,"BI","GRCh38","chr11",63904791,63904791,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.1687del","p.Gln563SerfsTer53","p.Q563Sfs*53","ENST00000402010","16/19",120,75,45,136,null,null,"MARK2,frameshift_variant,p.Q516Sfs*53,ENST00000377810,,c.1546del,HIGH,,,,1;MARK2,frameshift_variant,p.Q563Sfs*53,ENST00000402010,NM_001039469.2,c.1687del,HIGH,YES,,,1;MARK2,frameshift_variant,p.Q509Sfs*53,ENST00000361128,NM_001163296.2,c.1525del,HIGH,,,,1;MARK2,frameshift_variant,p.Q508Sfs*53,ENST00000508192,NM_004954.5,c.1522del,HIGH,,,,1;MARK2,frameshift_variant,p.Q508Sfs*53,ENST00000350490,NM_001163297.2,c.1522del,HIGH,,,,1;MARK2,frameshift_variant,p.Q562Sfs*53,ENST00000502399,,c.1684del,HIGH,,,,1;MARK2,frameshift_variant,p.Q529Sfs*53,ENST00000509502,NM_017490.4,c.1585del,HIGH,,,,1;MARK2,frameshift_variant,p.Q563Sfs*53,ENST00000513765,,c.1687del,HIGH,,,,1;MARK2,frameshift_variant,p.Q508Sfs*53,ENST00000679216,,c.1522del,HIGH,,,,1;MARK2,frameshift_variant,p.Q562Sfs*53,ENST00000425897,,c.1684del,HIGH,,,,1;MARK2,frameshift_variant,p.Q475Sfs*53,ENST00000408948,,c.1423del,HIGH,,,,1;MARK2,downstream_gene_variant,,ENST00000543220,,,MODIFIER,,,,1;MARK2,frameshift_variant,p.Q37Sfs*53,ENST00000677303,,c.109del,HIGH,,,,1;MARK2,3_prime_UTR_variant,,ENST00000677688,,c.*106del,MODIFIER,,,,1;MARK2,non_coding_transcript_exon_variant,,ENST00000676602,,n.4361del,MODIFIER,,,,1;MARK2,non_coding_transcript_exon_variant,,ENST00000678482,,n.3932del,MODIFIER,,,,1;MARK2,non_coding_transcript_exon_variant,,ENST00000679321,,n.2205del,MODIFIER,,,,1;MARK2,non_coding_transcript_exon_variant,,ENST00000678662,,n.1379del,MODIFIER,,,,1;MARK2,downstream_gene_variant,,ENST00000535116,,,MODIFIER,,,,1","-","ENSG00000072518","ENST00000402010","Transcript","frameshift_variant","frameshift_variant","2261/3300","1682/2367","561/788","A/X","gCc/gc",null,null,1,"MARK2","HGNC","HGNC:3332","protein_coding","YES","CCDS53649.1","ENSP00000385751","Q7KZI7.169",null,"UPI00004F6F00","Q7KZI7-1","NM_001039469.2",null,"A1",{"$nulls":3},"16/19",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR24346:SF56;PANTHER:PTHR24346",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"GCACAGCCCCCC","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CFAP251",144406,"BI","GRCh38","chr12",121959045,121959045,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.2084G>A","p.Ser695Asn","p.S695N","ENST00000288912","13/22",162,98,64,204,null,null,"CFAP251,missense_variant,p.S695N,ENST00000288912,NM_144668.6,c.2084G>A,MODERATE,YES,tolerated(0.16),benign(0.048),1;CFAP251,missense_variant,p.S695N,ENST00000397454,NM_001178003.2,c.2084G>A,MODERATE,,tolerated(0.14),benign(0.022),1;CFAP251,upstream_gene_variant,,ENST00000545752,,,MODIFIER,,,,1;CFAP251,non_coding_transcript_exon_variant,,ENST00000543211,,n.4631G>A,MODIFIER,,,,1;CFAP251,non_coding_transcript_exon_variant,,ENST00000535257,,n.2189G>A,MODIFIER,,,,1","A","ENSG00000158023","ENST00000288912","Transcript","missense_variant","missense_variant","2208/3729","2084/3450","695/1149","S/N","aGt/aAt","COSV56616537",null,1,"CFAP251","HGNC","HGNC:28506","protein_coding","YES","CCDS41853.1","ENSP00000288912","Q8TBY9.152",null,"UPI00001AEB2C","Q8TBY9-1","NM_144668.6","NM_144668.6","P4",null,"tolerated(0.16)","benign(0.048)","13/22",null,"PROSITE_profiles:PS50294;PANTHER:PTHR13720:SF13;PANTHER:PTHR13720;SMART:SM00320;Superfamily:SSF50998;Superfamily:SSF50978",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AACCAGTGTGA","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM4039518","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RASGRF1",5923,"BI","GRCh38","chr15",79049561,79049561,"+","Missense_Mutation","SNP","G","G","A","rs988360612",null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.559C>T","p.Arg187Cys","p.R187C","ENST00000419573","2024-04-28",42,23,18,72,null,null,"RASGRF1,missense_variant,p.R187C,ENST00000419573,NM_002891.5,c.559C>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.765),-1;RASGRF1,missense_variant,p.R187C,ENST00000558480,NM_001145648.3,c.559C>T,MODERATE,,deleterious(0.04),benign(0.092),-1;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,,n.420C>T,MODIFIER,,,,-1","A","ENSG00000058335","ENST00000419573","Transcript","missense_variant","missense_variant","834/6294","559/3822","187/1273","R/C","Cgc/Tgc","rs988360612;COSV69178646",null,-1,"RASGRF1","HGNC","HGNC:9875","protein_coding","YES","CCDS10309.1","ENSP00000405963","Q13972.193",null,"UPI000013D1F1","Q13972-1","NM_002891.5",{"$nulls":3},"deleterious(0.04)","possibly_damaging(0.765)","2024-04-28",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR23113;PANTHER:PTHR23113:SF193",{"$nulls":8},"1.595e-05",0,"8.692e-05",0,0,0,"8.82e-06",0,0,"8.692e-05","gnomAD_AMR","6.761969871149631e-06",0,0,0,0,0,0,0,"1.5433499356731772e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",null,"GATGCGCTCAT","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM4057199","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NKPD1",284353,"BI","GRCh38","chr19",45152614,45152614,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.1823G>A","p.Arg608His","p.R608H","ENST00000317951","2024-05-05",29,23,6,19,null,null,"NKPD1,missense_variant,p.R608H,ENST00000317951,NM_198478.3,c.1823G>A,MODERATE,YES,tolerated(0.13),benign(0.007),-1;NKPD1,missense_variant,p.R386H,ENST00000589776,,c.1157G>A,MODERATE,,tolerated(0.21),benign(0.001),-1;MARK4,intron_variant,,ENST00000587566,,c.-277+73237C>T,MODIFIER,,,,1;PPP1R37,downstream_gene_variant,,ENST00000422370,,,MODIFIER,,,,1","T","ENSG00000179846","ENST00000317951","Transcript","missense_variant","missense_variant","2046/4910","1823/2499","608/832","R/H","cGc/cAc","COSV58730500",null,-1,"NKPD1","HGNC","HGNC:24739","protein_coding","YES",null,"ENSP00000321976","Q17RQ9.85",null,"UPI000059D74A",null,"NM_198478.3",null,"A2",null,"tolerated(0.13)","benign(0.007)","2024-05-05",null,"PANTHER:PTHR22674;PANTHER:PTHR22674:SF4;Pfam:PF07693",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"AGTCGCGCTCG","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM4079301;COSM4079302","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FOXR2",139628,"BI","GRCh38","chrX",55623982,55623982,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-HU-A4GT","TCGA-HU-A4GT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"445875af-7a67-4041-bc25-07e0b5dfb66d","50fad79c-0ab5-41b5-b176-923b06f78c47","c.271G>T","p.Gly91Cys","p.G91C","ENST00000339140","2024-01-01",74,67,7,79,null,null,"FOXR2,missense_variant,p.G91C,ENST00000339140,NM_198451.4,c.271G>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),1","T","ENSG00000189299","ENST00000339140","Transcript","missense_variant","missense_variant","583/2793","271/936","91/311","G/C","Ggc/Tgc","COSV59259923",null,1,"FOXR2","HGNC","HGNC:30469","protein_coding","YES","CCDS35308.1","ENSP00000427329","Q6PJQ5.139",null,"UPI00001603CE",null,"NM_198451.4","NM_198451.4","P1",null,"deleterious(0)","probably_damaging(0.99)","2024-01-01",null,"PANTHER:PTHR46789:SF2;PANTHER:PTHR46789",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CCCTTGGCAGC","801644cc-cabc-49b3-83a4-425dd325fe57","fe607af3-2a8e-4065-b357-5bc6b9a47e74","7997f3d8-bff6-4808-8df0-d88d344d7c9e",null,"COSM4110415","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SYNE1",23345,"BI","GRCh38","chr6",152350294,152350294,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-8527","TCGA-CD-8527-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1","e67a786e-eae8-4bf5-b3e7-7e8fe1083c98","c.11775A>C","p.Glu3925Asp","p.E3925D","ENST00000367255","72/146",88,67,21,132,null,null,"SYNE1,missense_variant,p.E3925D,ENST00000367255,NM_182961.4,c.11775A>C,MODERATE,YES,deleterious(0.03),benign(0.134),-1;SYNE1,missense_variant,p.E3832D,ENST00000341594,,c.11496A>C,MODERATE,,tolerated(0.06),probably_damaging(0.971),-1;SYNE1,intron_variant,,ENST00000423061,NM_033071.3,c.11688+324A>C,MODIFIER,,,,-1;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,,n.4913A>C,MODIFIER,,,,-1","G","ENSG00000131018","ENST00000367255","Transcript","missense_variant","missense_variant","12340/27708","11775/26394","3925/8797","E/D","gaA/gaC","COSV55034244",null,-1,"SYNE1","HGNC","HGNC:17089","protein_coding","YES","CCDS5236.2","ENSP00000356224","Q8NF91.188",null,"UPI000204AF58","Q8NF91-1","NM_182961.4","NM_182961.4","P3",null,"deleterious(0.03)","benign(0.134)","72/146",null,"Gene3D:1.20.58.60;PANTHER:PTHR14514;PANTHER:PTHR14514:SF3;SMART:SM00150;Superfamily:SSF46966;CDD:cd00176",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TAGTCTTCATG","1ba04f7f-c641-4ed3-94c7-7204ede7c9d6","af81d0bd-07f9-493f-b358-2c5ee66be5db","1b98b2da-c5bf-422f-bb73-1190841fbec4",null,"COSM3859490;COSM3859491;COSM3859492","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UBXN11",91544,"BI","GRCh38","chr1",26284144,26284144,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.1075C>A","p.Gln359Lys","p.Q359K","ENST00000374221","13/16",230,175,54,230,null,null,"UBXN11,missense_variant,p.Q239K,ENST00000314675,NM_001077262.1,c.715C>A,MODERATE,,tolerated(0.07),benign(0.027),-1;UBXN11,missense_variant,p.Q359K,ENST00000374222,,c.1075C>A,MODERATE,YES,deleterious(0.03),benign(0.005),-1;UBXN11,missense_variant,p.Q326K,ENST00000374217,NM_145345.2,c.976C>A,MODERATE,,deleterious(0.02),benign(0.011),-1;UBXN11,missense_variant,p.Q359K,ENST00000374221,NM_183008.2,c.1075C>A,MODERATE,,deleterious(0.03),benign(0.005),-1;UBXN11,missense_variant,p.Q326K,ENST00000357089,,c.976C>A,MODERATE,,deleterious(0.02),benign(0.011),-1;UBXN11,missense_variant,p.Q116K,ENST00000374223,,c.346C>A,MODERATE,,deleterious(0.02),benign(0.005),-1;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.4,,MODIFIER,YES,,,1;SH3BGRL3,downstream_gene_variant,,ENST00000319041,,,MODIFIER,,,,1;UBXN11,downstream_gene_variant,,ENST00000374215,,,MODIFIER,,,,-1;UBXN11,downstream_gene_variant,,ENST00000442942,,,MODIFIER,,,,-1;UBXN11,downstream_gene_variant,,ENST00000452980,,,MODIFIER,,,,-1;UBXN11,splice_region_variant,,ENST00000472155,,n.2140C>A,LOW,,,,-1;UBXN11,splice_region_variant,,ENST00000475591,,n.2037C>A,LOW,,,,-1;UBXN11,splice_region_variant,,ENST00000496466,,n.1857C>A,LOW,,,,-1;UBXN11,splice_region_variant,,ENST00000494942,,n.1822C>A,LOW,,,,-1","T","ENSG00000158062","ENST00000374221","Transcript","missense_variant","missense_variant;splice_region_variant","1289/1792","1075/1563","359/520","Q/K","Cag/Aag","COSV54626033",null,-1,"UBXN11","HGNC","HGNC:30600","protein_coding",null,"CCDS41288.1","ENSP00000363338","Q5T124.129",null,"UPI00004700E1","Q5T124-1","NM_183008.2",null,"P4",null,"deleterious(0.03)","benign(0.005)","13/16",null,"PANTHER:PTHR23333:SF4;PANTHER:PTHR23333;Gene3D:3.10.20.90",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CACCTGCAAGG","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,"COSM4030947","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UBR2",23304,"BI","GRCh38","chr6",42673873,42673873,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.4169del","p.Cys1390LeufsTer20","p.C1390Lfs*20","ENST00000372899","37/47",60,50,9,74,null,null,"UBR2,frameshift_variant,p.C1390Lfs*20,ENST00000372899,NM_015255.2,c.4169del,HIGH,YES,,,1;UBR2,frameshift_variant,p.C1390Lfs*20,ENST00000372901,NM_001363705.2,c.4169del,HIGH,,,,1","-","ENSG00000024048","ENST00000372899","Transcript","frameshift_variant","frameshift_variant","4460/7891","4169/5268","1390/1755","C/X","tGt/tt","COSV65749968",null,1,"UBR2","HGNC","HGNC:21289","protein_coding","YES","CCDS4870.1","ENSP00000361990","Q8IWV8.165",null,"UPI0000074466","Q8IWV8-1","NM_015255.2",null,"P4",{"$nulls":3},"37/47",null,"PANTHER:PTHR21497:SF28;PANTHER:PTHR21497;Pfam:PF18995",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,null,1,null,"ATTTTTGTAAAC","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TOP1MT",116447,"BI","GRCh38","chr8",143309467,143309467,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.1780A>G","p.Met594Val","p.M594V","ENST00000329245","14/14",114,91,23,96,null,null,"TOP1MT,missense_variant,p.M496V,ENST00000523676,,c.1486A>G,MODERATE,,tolerated(0.31),benign(0.345),-1;TOP1MT,missense_variant,p.M496V,ENST00000521193,NM_001258446.1,c.1486A>G,MODERATE,,tolerated(0.31),benign(0.345),-1;TOP1MT,missense_variant,p.M594V,ENST00000329245,NM_052963.3,c.1780A>G,MODERATE,YES,tolerated(0.26),benign(0.345),-1;TOP1MT,missense_variant,p.M496V,ENST00000519148,NM_001258447.1,c.1486A>G,MODERATE,,tolerated(0.31),benign(0.345),-1;TOP1MT,missense_variant,p.M104V,ENST00000519977,,c.310A>G,MODERATE,,deleterious(0.03),benign(0.173),-1;TOP1MT,non_coding_transcript_exon_variant,,ENST00000517857,,n.513A>G,MODIFIER,,,,-1","C","ENSG00000184428","ENST00000329245","Transcript","missense_variant","missense_variant","1799/1942","1780/1806","594/601","M/V","Atg/Gtg","COSV61318980",null,-1,"TOP1MT","HGNC","HGNC:29787","protein_coding","YES","CCDS6400.1","ENSP00000328835","Q969P6.171","E5KMK7.84","UPI000013716D","Q969P6-1","NM_052963.3","NM_052963.3","P1",null,"tolerated(0.26)","benign(0.345)","14/14",null,"Superfamily:SSF56349;Pfam:PF14370;Gene3D:1.10.132.10;PANTHER:PTHR10290;PANTHER:PTHR10290:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGCCATGGCGA","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,"COSM3897374","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ST14",6768,"BI","GRCh38","chr11",130188187,130188188,"+","Frame_Shift_Ins","INS","-","-","G","novel",null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.159dup","p.Arg54AlafsTer46","p.R54Afs*46","ENST00000278742","2024-02-19",65,51,14,58,null,null,"ST14,frameshift_variant,p.R54Afs*46,ENST00000278742,NM_021978.4,c.159dup,HIGH,YES,,,1;ST14,upstream_gene_variant,,ENST00000524718,,,MODIFIER,,,,1;ST14,upstream_gene_variant,,ENST00000530376,,,MODIFIER,,,,1;ST14,upstream_gene_variant,,ENST00000530532,,,MODIFIER,,,,1","G","ENSG00000149418","ENST00000278742","Transcript","frameshift_variant","frameshift_variant","353-354/3305","155-156/2568","52/855","P/PX","ccg/ccGg",null,null,1,"ST14","HGNC","HGNC:11344","protein_coding","YES","CCDS8487.1","ENSP00000278742","Q9Y5Y6.201",null,"UPI00000012E9",null,"NM_021978.4","NM_021978.4","P1",{"$nulls":3},"2024-02-19",null,"PIRSF:PIRSF036370;PANTHER:PTHR24255;PANTHER:PTHR24255:SF28",{"$nulls":41},"HIGH",1,"insertion",1,4,null,1,"TGGCCCGGGGC","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["INTS2",57508,"BI","GRCh38","chr17",61872452,61872452,"+","Frame_Shift_Del","DEL","G","G","-","rs753355779",null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.2615del","p.Pro872HisfsTer2","p.P872Hfs*2","ENST00000444766","20/25",29,22,6,25,null,null,"INTS2,frameshift_variant,p.P864Hfs*2,ENST00000251334,NM_001351695.2,c.2591del,HIGH,,,,-1;INTS2,frameshift_variant,p.P872Hfs*2,ENST00000444766,NM_020748.4,c.2615del,HIGH,YES,,,-1;INTS2,frameshift_variant,p.P864Hfs*2,ENST00000647009,NM_001330417.2,c.2591del,HIGH,,,,-1;INTS2,frameshift_variant,p.P872Hfs*2,ENST00000617492,,c.2615del,HIGH,,,,-1;Y_RNA,downstream_gene_variant,,ENST00000365491,,,MODIFIER,YES,,,-1;INTS2,3_prime_UTR_variant,,ENST00000646745,,c.*2112del,MODIFIER,,,,-1;INTS2,non_coding_transcript_exon_variant,,ENST00000583822,,n.607del,MODIFIER,,,,-1","-","ENSG00000108506","ENST00000444766","Transcript","frameshift_variant","frameshift_variant","2691/5878","2615/3615","872/1204","P/X","cCa/ca","rs753355779;COSV52155455",null,-1,"INTS2","HGNC","HGNC:29241","protein_coding","YES","CCDS45750.1","ENSP00000414237","Q9H0H0.136",null,"UPI0000E5A03A",null,"NM_020748.4",null,"A2",{"$nulls":3},"20/25",null,"Pfam:PF14750;PANTHER:PTHR28608",{"$nulls":33},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",null,"ATCAGTGGGGGG","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,"COSM1239141","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CHST7",56548,"BI","GRCh38","chrX",46574227,46574227,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-D7-A4YV","TCGA-D7-A4YV-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"5adc47c4-651b-456b-9c37-0a2980dddc44","a1f1d449-d527-42ca-96e4-96095e5c3c25","c.296G>A","p.Arg99His","p.R99H","ENST00000276055","2024-01-02",36,28,7,30,null,null,"CHST7,missense_variant,p.R99H,ENST00000276055,NM_019886.4,c.296G>A,MODERATE,YES,tolerated(0.17),benign(0.151),1","A","ENSG00000147119","ENST00000276055","Transcript","missense_variant","missense_variant","463/2396","296/1461","99/486","R/H","cGc/cAc","COSV52100629",null,1,"CHST7","HGNC","HGNC:13817","protein_coding","YES","CCDS14268.1","ENSP00000276055","Q9NS84.143",null,"UPI000000DADD",null,"NM_019886.4","NM_019886.4","P1",null,"tolerated(0.17)","benign(0.151)","2024-01-02",null,"PANTHER:PTHR10704;PANTHER:PTHR10704:SF5;PIRSF:PIRSF005883",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTCTCGCGAGA","d0be6fde-55d3-49de-aa23-86ead7db399e","ddff9c84-f38c-47de-bf05-d04b8a380aba","47fd3741-28ea-427b-9c2a-8cb39153c8ab",null,"COSM4109581","N","Unknown",{"$nulls":3},"muse;mutect2"]
["GOLIM4",27333,"BI","GRCh38","chr3",168032717,168032717,"+","Missense_Mutation","SNP","G","G","A","rs368136905",null,"TCGA-VQ-A91V","TCGA-VQ-A91V-10B-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"129bd509-0f0a-48e8-91e6-e676d87e47d4","0814f8b7-c702-4acd-9d6b-c846eb21428f","c.979C>T","p.Arg327Cys","p.R327C","ENST00000470487","2024-09-16",69,32,37,80,null,null,"GOLIM4,missense_variant,p.R327C,ENST00000470487,NM_014498.5,c.979C>T,MODERATE,YES,tolerated(0.07),benign(0.347),-1;GOLIM4,missense_variant,p.R299C,ENST00000309027,NM_001308155.2,c.895C>T,MODERATE,,tolerated(0.06),benign(0.347),-1","A","ENSG00000173905","ENST00000470487","Transcript","missense_variant","missense_variant","1618/4310","979/2091","327/696","R/C","Cgc/Tgc","rs368136905",null,-1,"GOLIM4","HGNC","HGNC:15448","protein_coding","YES","CCDS3204.1","ENSP00000417354","O00461.134",null,"UPI0000073BF8",null,"NM_014498.5","NM_014498.5","P3",null,"tolerated(0.07)","benign(0.347)","2024-09-16",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR22909;PANTHER:PTHR22909:SF22",{"$nulls":6},0.000227,0,"2.784e-05","6.152e-05",0,0,0,0,"5.275e-05",0,0,0.000227,"AA","8.801149670034647e-05",1.2189800327178E-4,0,0,0,0,0,0,0.000123480000183917,0,0,0.000123480000183917,"nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TCTGCGTTCCA","a735af2c-d960-4563-8b6d-73690fa08857","77735039-4176-4ab4-b5a6-0099039340b0","4a00ca75-d23a-4642-bee8-db4182517724",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPB41L3",23136,"BI","GRCh38","chr18",5434012,5434012,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-VQ-A91V","TCGA-VQ-A91V-10B-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"129bd509-0f0a-48e8-91e6-e676d87e47d4","0814f8b7-c702-4acd-9d6b-c846eb21428f","c.715G>A","p.Asp239Asn","p.D239N","ENST00000341928","2024-07-23",75,15,60,180,null,null,"EPB41L3,missense_variant,p.D239N,ENST00000341928,NM_012307.4,c.715G>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;EPB41L3,missense_variant,p.D239N,ENST00000342933,NM_001330557.1,c.715G>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;EPB41L3,missense_variant,p.D239N,ENST00000544123,NM_001281533.1,c.715G>A,MODERATE,,deleterious(0),probably_damaging(0.99),-1;EPB41L3,missense_variant,p.D239N,ENST00000540638,NM_001281534.2,c.715G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;EPB41L3,missense_variant,p.D130N,ENST00000545076,NM_001281535.1,c.388G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;EPB41L3,intron_variant,,ENST00000400111,,c.487-5547G>A,MODIFIER,,,,-1;EPB41L3,intron_variant,,ENST00000584670,,c.37-9653G>A,MODIFIER,,,,-1;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,,n.279G>A,MODIFIER,,,,-1;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581757,,n.110G>A,MODIFIER,,,,-1;EPB41L3,upstream_gene_variant,,ENST00000578432,,,MODIFIER,,,,-1;EPB41L3,missense_variant,p.D130N,ENST00000637651,,c.388G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.992),-1","T","ENSG00000082397","ENST00000341928","Transcript","missense_variant","missense_variant","1056/4706","715/3264","239/1087","D/N","Gac/Aac","COSV100548239;COSV100549886",null,-1,"EPB41L3","HGNC","HGNC:3380","protein_coding","YES","CCDS11838.1","ENSP00000343158","Q9Y2J2.192",null,"UPI0000129AFA","Q9Y2J2-1","NM_012307.4",null,"P4",null,"deleterious(0)","probably_damaging(0.998)","2024-07-23",null,"PDB-ENSP_mappings:2he7.A;PDB-ENSP_mappings:3bin.A;PDB-ENSP_mappings:6ibe.A;Prints:PR00935;PANTHER:PTHR23280;PANTHER:PTHR23280:SF20;PROSITE_profiles:PS50057;Superfamily:SSF47031;SMART:SM00295;Gene3D:1.20.80.10;Pfam:PF00373;PIRSF:PIRSF002304;CDD:cd14473",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"ATAGTCTCCGA","a735af2c-d960-4563-8b6d-73690fa08857","77735039-4176-4ab4-b5a6-0099039340b0","4a00ca75-d23a-4642-bee8-db4182517724",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SYTL2",54843,"BI","GRCh38","chr11",85734044,85734044,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8483","TCGA-BR-8483-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"1d30fed9-42a2-4523-9ac6-651c6ff7415f","03d0314b-41e2-44e2-b2be-c9aa8c2eee2b","c.1282A>T","p.Thr428Ser","p.T428S","ENST00000528231","2024-06-18",95,64,30,136,null,null,"SYTL2,missense_variant,p.T429S,ENST00000634661,NM_206928.3&NM_206927.3,c.1285A>T,MODERATE,YES,tolerated(0.34),benign(0.044),-1;SYTL2,missense_variant,p.T428S,ENST00000389960,NM_032943.4&NM_001365826.1,c.1282A>T,MODERATE,,tolerated(0.23),benign(0.005),-1;SYTL2,missense_variant,p.T429S,ENST00000316356,,c.1285A>T,MODERATE,,tolerated(0.3),benign(0.003),-1;SYTL2,missense_variant,p.T429S,ENST00000359152,NM_001162953.2,c.1285A>T,MODERATE,,tolerated(0.3),benign(0.003),-1;SYTL2,missense_variant,p.T428S,ENST00000528231,NM_001162951.2,c.1282A>T,MODERATE,,tolerated(0.29),benign(0),-1;SYTL2,missense_variant,p.T380S,ENST00000527523,NM_001289608.1&NM_001365827.1,c.1138A>T,MODERATE,,tolerated(0.39),benign(0.003),-1;SYTL2,missense_variant,p.T428S,ENST00000524452,,c.1282A>T,MODERATE,,tolerated(0.23),benign(0.005),-1;SYTL2,non_coding_transcript_exon_variant,,ENST00000438197,,n.1302A>T,MODIFIER,,,,-1","A","ENSG00000137501","ENST00000528231","Transcript","missense_variant","missense_variant","1560/3536","1282/2805","428/934","T/S","Act/Tct","COSV60362669",null,-1,"SYTL2","HGNC","HGNC:15585","protein_coding",null,"CCDS53688.1","ENSP00000431701","Q9HCH5.169",null,"UPI0001AADE5A","Q9HCH5-1","NM_001162951.2",null,"P4",null,"tolerated(0.29)","benign(0)","2024-06-18",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR45716:SF5;PANTHER:PTHR45716",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TGCAGTTAAAA","7984d456-9557-4c76-b06e-90d4ed2c8c55","046247ac-7903-4d5c-abac-ada096775bda","e17cf9e9-0902-44e0-962b-af5492876f7d",null,"COSM4037203","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDYL",9425,"BI","GRCh38","chr6",4952295,4952295,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-VQ-A91N","TCGA-VQ-A91N-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"7eacb219-50b9-42c4-ae7a-aabb6dbf696b","501b4785-a70e-463a-a5dd-00099a8f7674","c.1524G>T","p.Lys508Asn","p.K508N","ENST00000328908","2024-08-09",37,14,23,47,null,null,"CDYL,missense_variant,p.K454N,ENST00000397588,NM_004824.4&NM_001368126.1,c.1362G>T,MODERATE,,deleterious(0),probably_damaging(0.948),1;CDYL,missense_variant,p.K508N,ENST00000328908,NM_001368125.1,c.1524G>T,MODERATE,YES,deleterious(0),probably_damaging(0.977),1;CDYL,missense_variant,p.K322N,ENST00000343762,NM_001368127.1&NM_001143971.2,c.966G>T,MODERATE,,deleterious(0),probably_damaging(0.977),1;CDYL,missense_variant,p.K322N,ENST00000449732,NM_001143970.1,c.966G>T,MODERATE,,deleterious(0),probably_damaging(0.977),1;CDYL,non_coding_transcript_exon_variant,,ENST00000472453,,n.1037G>T,MODIFIER,,,,1","T","ENSG00000153046","ENST00000328908","Transcript","missense_variant","missense_variant","1655/3419","1524/1797","508/598","K/N","aaG/aaT","COSV100189088",null,1,"CDYL","HGNC","HGNC:1811","protein_coding","YES",null,"ENSP00000330512","Q9Y232.173",null,"UPI000013DD13","Q9Y232-1","NM_001368125.1",{"$nulls":3},"deleterious(0)","probably_damaging(0.977)","2024-08-09",null,"PDB-ENSP_mappings:2gtr.A;PDB-ENSP_mappings:2gtr.B;PDB-ENSP_mappings:2gtr.C;CDD:cd06558;PANTHER:PTHR43684:SF5;PANTHER:PTHR43684;Pfam:PF00378;Gene3D:3.90.226.10;Superfamily:SSF52096",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CGGAAGCTGAC","90341f61-7dba-4326-88ad-ed096f253428","a8c40736-39ad-44f6-a9af-c83bb1bced86","cbe05333-3185-4878-b6e6-977a0e1400e4",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATAD3A",55210,"BI","GRCh38","chr1",1518987,1518987,"+","Nonsense_Mutation","SNP","C","C","T","rs1308954605",null,"TCGA-CD-8528","TCGA-CD-8528-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"f1428870-65bf-45a5-b321-578ad94288c1","07bd0343-e5c6-48bf-ae2a-1d3d56b624ea","c.655C>T","p.Arg219Ter","p.R219*","ENST00000378755","2024-05-16",80,70,10,270,null,null,"ATAD3A,stop_gained,p.R219*,ENST00000378755,NM_018188.5,c.655C>T,HIGH,YES,,,1;ATAD3A,stop_gained,p.R171*,ENST00000378756,NM_001170535.3,c.511C>T,HIGH,,,,1;ATAD3A,stop_gained,p.R92*,ENST00000536055,NM_001170536.2,c.274C>T,HIGH,,,,1;ATAD3A,upstream_gene_variant,,ENST00000400830,,,MODIFIER,,,,1;ATAD3A,stop_gained,p.R133*,ENST00000339113,,c.397C>T,HIGH,,,,1;ATAD3A,non_coding_transcript_exon_variant,,ENST00000672388,,n.918C>T,MODIFIER,,,,1;ATAD3A,non_coding_transcript_exon_variant,,ENST00000429957,,n.222C>T,MODIFIER,,,,1;ATAD3A,downstream_gene_variant,,ENST00000439513,,,MODIFIER,,,,1","T","ENSG00000197785","ENST00000378755","Transcript","stop_gained","stop_gained","749/2612","655/1905","219/634","R/*","Cga/Tga","rs1308954605",null,1,"ATAD3A","HGNC","HGNC:25567","protein_coding","YES","CCDS31.1","ENSP00000368030","Q9NVI7.177",null,"UPI000013D456","Q9NVI7-1","NM_018188.5",null,"P4",{"$nulls":3},"2024-05-16",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF12037;PANTHER:PTHR23075;PANTHER:PTHR23075:SF5",{"$nulls":8},"7.97e-06",0,0,0,0,0,"8.823e-06",0,"3.266e-05","3.266e-05","gnomAD_SAS","2.028420021815691e-05",0,0,0,0,0,0,0,"4.631490082829259e-05",0,0,"4.631490082829259e-05","nfe",{"$nulls":9},"HIGH",1,"SNV",2,null,null,1,"TGCGGCGAGGT","71d1ab70-0f33-42be-9129-ae96e6b2033b","7795c323-2532-4627-82aa-15e7b5280712","1a1f2197-e303-46e4-8871-53f2eb2e599a",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ASTN1",460,"BI","GRCh38","chr1",177023409,177023409,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-A452","TCGA-BR-A452-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"c31fb05d-9916-4ea7-a472-6a3e6d4eb206","d5a5bd89-908e-4538-8854-df337cd9a8d0","c.1433A>G","p.Glu478Gly","p.E478G","ENST00000361833","2024-07-23",14,6,8,26,null,null,"ASTN1,missense_variant,p.E478G,ENST00000361833,NM_001364856.1&NM_004319.3,c.1433A>G,MODERATE,YES,deleterious(0),benign(0.098),-1;ASTN1,missense_variant,p.E478G,ENST00000367657,NM_001286164.1,c.1433A>G,MODERATE,,deleterious(0),benign(0.098),-1;ASTN1,missense_variant,p.E478G,ENST00000424564,NM_207108.2,c.1433A>G,MODERATE,,deleterious(0),benign(0.098),-1;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,,n.1730A>G,MODIFIER,,,,-1;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,,n.577A>G,MODIFIER,,,,-1","C","ENSG00000152092","ENST00000361833","Transcript","missense_variant","missense_variant","1469/7138","1433/3885","478/1294","E/G","gAa/gGa","COSV56061315",null,-1,"ASTN1","HGNC","HGNC:773","protein_coding","YES","CCDS1319.1","ENSP00000354536","O14525.174",null,"UPI0000160388","O14525-2","NM_001364856.1;NM_004319.3","NM_004319.3","P1",null,"deleterious(0)","benign(0.098)","2024-07-23",null,"PANTHER:PTHR16592;PANTHER:PTHR16592:SF8;SMART:SM00181",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGTTTCGGGG","51ef56be-485d-43f6-8b7d-3709990fdaec","e3d52d4c-4a28-4fa8-80f6-cf04aaf469b2","722a3067-2b68-442f-a333-540ab085af32",null,"COSM4025436;COSM4025437","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SALL1",6299,"BI","GRCh38","chr16",51137251,51137251,"+","Missense_Mutation","SNP","G","G","A","rs776104367",null,"TCGA-HU-A4G3","TCGA-HU-A4G3-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"5d83776d-2358-427a-bc55-0ae429559d41","bbf11eb7-0258-4973-be54-d8dd4e11baf1","c.3836C>T","p.Thr1279Met","p.T1279M","ENST00000251020","2024-03-03",60,48,12,86,null,null,"SALL1,missense_variant,p.T1182M,ENST00000440970,NM_001127892.1,c.3545C>T,MODERATE,,deleterious(0.02),probably_damaging(0.962),-1;SALL1,missense_variant,p.T1279M,ENST00000251020,NM_002968.3,c.3836C>T,MODERATE,YES,deleterious(0.03),probably_damaging(0.962),-1;SALL1,3_prime_UTR_variant,,ENST00000566102,,c.*273C>T,MODIFIER,,,,-1;SALL1,downstream_gene_variant,,ENST00000570206,,,MODIFIER,,,,-1","A","ENSG00000103449","ENST00000251020","Transcript","missense_variant","missense_variant","3865/5134","3836/3975","1279/1324","T/M","aCg/aTg","rs776104367;COSV51754116;COSV51762582",null,-1,"SALL1","HGNC","HGNC:10524","protein_coding","YES","CCDS10747.1","ENSP00000251020","Q9NSC2.173",null,"UPI000013CCD8","Q9NSC2-1","NM_002968.3","NM_002968.3","P4",null,"deleterious(0.03)","probably_damaging(0.962)","2024-03-03",null,"PANTHER:PTHR23233;PANTHER:PTHR23233:SF51",{"$nulls":8},"3.181e-05","6.152e-05","2.891e-05",0,"5.437e-05",0,"2.637e-05",1.629E-4,"3.266e-05",1.629E-4,"gnomAD_OTH","3.3820801036199555e-05","2.4334500267286785e-05",0,0,0,0,0,0,"6.173220026539639e-05",0,0,"6.173220026539639e-05","nfe","uncertain_significance","0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1;1",1,"TTCCCGTCAGC","c6329105-146a-42f5-8b7d-0626087d33ce","aeff1212-b25d-4e5d-9412-8c74606b0625","6eeee564-1057-42e4-bfce-b6fe17d58d10",null,"COSM1290534","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GSAP",54103,"BI","GRCh38","chr7",77355260,77355260,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-SW-A7EB","TCGA-SW-A7EB-10A-01D-A34X-08",{"$nulls":8},"Somatic",{"$nulls":6},"abe30688-9765-4e24-8b7d-3c04543b2441","f721f0b9-2b21-44d1-8b54-5385fbd52958","c.1291C>T","p.His431Tyr","p.H431Y","ENST00000257626","16/31",58,51,7,98,null,null,"GSAP,missense_variant,p.H431Y,ENST00000257626,NM_001350901.2&NM_001350900.2&NM_001350898.2&NM_001350897.2&NM_001350899.2&NM_017439.4&NM_001350896.2,c.1291C>T,MODERATE,YES,deleterious(0),probably_damaging(0.982),-1;GSAP,non_coding_transcript_exon_variant,,ENST00000434084,,n.25C>T,MODIFIER,,,,-1;GSAP,non_coding_transcript_exon_variant,,ENST00000449779,,n.247C>T,MODIFIER,,,,-1;GSAP,non_coding_transcript_exon_variant,,ENST00000334003,,n.1182C>T,MODIFIER,,,,-1","A","ENSG00000186088","ENST00000257626","Transcript","missense_variant","missense_variant","1319/3200","1291/2565","431/854","H/Y","Cac/Tac","COSV99990476",null,-1,"GSAP","HGNC","HGNC:28042","protein_coding","YES","CCDS34672.2","ENSP00000257626","A4D1B5.95",null,"UPI000015FEE3","A4D1B5-1","NM_001350901.2;NM_001350900.2;NM_001350898.2;NM_001350897.2;NM_001350899.2;NM_017439.4;NM_001350896.2","NM_017439.4","P1",null,"deleterious(0)","probably_damaging(0.982)","16/31",null,"PANTHER:PTHR13630",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCAGTGCAACG","dac4503e-334e-45ef-97b9-67c2760109d2","4c407846-aacc-4b79-a284-50534cccd8e3","bfdcc333-1b9d-44d2-90a4-c1720ba712e9",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRDMT1",1787,"BI","GRCh38","chr10",17157615,17157615,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-IN-7808","TCGA-IN-7808-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"be1f362d-e971-44b7-bcbb-6f9847d2089f","ddee461d-502d-40a9-8be0-9d50824f4199","c.713T>G","p.Ile238Ser","p.I238S","ENST00000377799","2024-08-11",27,22,5,26,null,null,"TRDMT1,missense_variant,p.I238S,ENST00000377799,NM_001321006.2&NM_001351221.2&NM_001351219.2&NM_004412.7&NM_001321007.2&NM_001351220.1&NM_001351223.1&NM_001351222.1,c.713T>G,MODERATE,YES,tolerated(0.11),benign(0.021),-1;TRDMT1,missense_variant,p.I115S,ENST00000488990,,c.344T>G,MODERATE,,tolerated(0.09),benign(0.351),-1;TRDMT1,missense_variant,p.I171S,ENST00000313936,,c.512T>G,MODERATE,,tolerated(0.11),benign(0.094),-1;TRDMT1,downstream_gene_variant,,ENST00000436968,,,MODIFIER,,,,-1;TRDMT1,downstream_gene_variant,,ENST00000525762,,,MODIFIER,,,,-1;TRDMT1,non_coding_transcript_exon_variant,,ENST00000452380,,n.649T>G,MODIFIER,,,,-1;TRDMT1,3_prime_UTR_variant,,ENST00000354631,,c.*733T>G,MODIFIER,,,,-1;TRDMT1,3_prime_UTR_variant,,ENST00000495022,,c.*378T>G,MODIFIER,,,,-1;TRDMT1,downstream_gene_variant,,ENST00000424636,,,MODIFIER,,,,-1","C","ENSG00000107614","ENST00000377799","Transcript","missense_variant","missense_variant","751/12918","713/1176","238/391","I/S","aTt/aGt","COSV58319344",null,-1,"TRDMT1","HGNC","HGNC:2977","protein_coding","YES","CCDS7114.1","ENSP00000367030","O14717.170","Q6ICS7.126","UPI0000129698","O14717-1","NM_001321006.2;NM_001351221.2;NM_001351219.2;NM_004412.7;NM_001321007.2;NM_001351220.1;NM_001351223.1;NM_001351222.1","NM_004412.7","P1",null,"tolerated(0.11)","benign(0.021)","2024-08-11",null,"PDB-ENSP_mappings:1g55.A;Gene3D:3.90.120.10;Pfam:PF00145;PROSITE_profiles:PS51679;PANTHER:PTHR46098;Superfamily:SSF53335;TIGRFAM:TIGR00675;CDD:cd00315",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGTGAATTTCT","a8f71351-5908-40eb-a1d1-7ce763dbbf28","143abdcd-fdaa-4317-a933-4dabe85a3b38","8f9be4e3-a1e5-4fa3-8d31-a53de781ed97",null,"COSM4013115","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLR1G",10849,"BI","GRCh38","chr19",45408890,45408890,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-D7-A74A","TCGA-D7-A74A-10A-21D-A32N-08",{"$nulls":8},"Somatic",{"$nulls":6},"57c1c40a-2b9f-4e21-889e-98344664c63c","50a48d8a-6195-433a-9da7-12b2e4b79735","c.922G>C","p.Glu308Gln","p.E308Q","ENST00000309424","2024-03-03",215,147,67,194,null,null,"POLR1G,missense_variant,p.E308Q,ENST00000309424,NM_012099.3,c.922G>C,MODERATE,,tolerated(0.09),benign(0.406),1;POLR1G,missense_variant,p.E310Q,ENST00000589804,NM_001297590.2,c.928G>C,MODERATE,YES,tolerated(0.09),benign(0.284),1;ERCC1,3_prime_UTR_variant,,ENST00000300853,NM_001369412.1&NM_001369413.1&NM_001369414.1&NM_001369415.1&NM_001983.4&NM_001369416.1,c.*785C>G,MODIFIER,,,,-1;ERCC1,3_prime_UTR_variant,,ENST00000423698,,c.*785C>G,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000013807,NM_001369408.1&NM_001369410.1&NM_001369409.1&NM_001369411.1&NM_202001.3,,MODIFIER,YES,,,-1;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001369417.1&NM_001369418.1&NM_001166049.2&NM_001369419.1,,MODIFIER,,,,-1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.4,,MODIFIER,YES,,,-1;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.2,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000589165,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000589381,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000590701,,,MODIFIER,,,,-1;POLR1G,downstream_gene_variant,,ENST00000590794,,,MODIFIER,,,,1;ERCC1,downstream_gene_variant,,ENST00000591636,,,MODIFIER,,,,-1;PPP1R13L,upstream_gene_variant,,ENST00000592134,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000592444,,,MODIFIER,,,,-1;POLR1G,downstream_gene_variant,,ENST00000592852,,,MODIFIER,,,,1;PPP1R13L,upstream_gene_variant,,ENST00000593226,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000588738,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000592410,,,MODIFIER,,,,-1;PPP1R13L,upstream_gene_variant,,ENST00000585905,,,MODIFIER,,,,-1;ERCC1,downstream_gene_variant,,ENST00000587888,,,MODIFIER,,,,-1","C","ENSG00000117877","ENST00000309424","Transcript","missense_variant","missense_variant","975/2822","922/1533","308/510","E/Q","Gag/Cag","COSV99185268",null,1,"POLR1G","HGNC","HGNC:24219","protein_coding",null,"CCDS12661.1","ENSP00000310966","O15446.158",null,"UPI0000070847","O15446-1","NM_012099.3","NM_012099.3","A2",null,"tolerated(0.09)","benign(0.406)","2024-03-03",null,"PANTHER:PTHR15484;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CAGTTGAGTCT","c01d7643-fd05-444a-bfbf-3d4e92b148ee","4e133b74-2282-408d-b8c2-c9edc9e9c41b","40837a4d-7931-497c-a6bf-6a661813c443",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ESRRG",2104,"BI","GRCh38","chr1",216677312,216677312,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-A4QM","TCGA-BR-A4QM-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"c2efeb73-85c8-4dce-bdd0-9d7010bf0a38","331ffab8-27ab-470a-886f-91f7264b8454","c.236T>G","p.Leu79Arg","p.L79R","ENST00000408911","2024-02-07",50,44,5,46,null,null,"ESRRG,missense_variant,p.L56R,ENST00000391890,NM_001243519.1&NM_001243515.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000360012,NM_001243514.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L84R,ENST00000366937,NM_001243518.2,c.251T>G,MODERATE,YES,tolerated_low_confidence(0.05),probably_damaging(0.994),-1;ESRRG,missense_variant,p.L56R,ENST00000361525,NM_206594.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000366940,NM_001134285.3,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000493603,NM_001243511.3&NM_001243510.3&NM_001350124.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000366938,NM_001243513.1,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000361395,NM_001243505.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000359162,NM_001350122.2&NM_001243506.2&NM_206595.3&NM_001350123.2&NM_001350125.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L79R,ENST00000408911,NM_001438.4,c.236T>G,MODERATE,,tolerated(0.09),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000616180,,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000673908,,c.167T>G,MODERATE,,tolerated(0.09),probably_damaging(0.994),-1;ESRRG,missense_variant,p.L56R,ENST00000463665,NM_001243507.2,c.167T>G,MODERATE,,tolerated(0.12),possibly_damaging(0.707),-1;ESRRG,missense_variant,p.L56R,ENST00000487276,NM_001243512.1,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000493748,NM_001243509.2,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000475275,,c.167T>G,MODERATE,,tolerated(0.1),probably_damaging(0.979),-1;ESRRG,missense_variant,p.L56R,ENST00000469486,,c.167T>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.979),-1;ESRRG,incomplete_terminal_codon_variant,p.*56=,ENST00000459955,,c.167T>G,LOW,,,,-1;ESRRG,downstream_gene_variant,,ENST00000481543,,,MODIFIER,,,,-1;ESRRG,intron_variant,,ENST00000586199,,c.*12+24113T>G,MODIFIER,,,,-1","C","ENSG00000196482","ENST00000408911","Transcript","missense_variant","missense_variant","366/5195","236/1377","79/458","L/R","cTt/cGt","COSV63175751",null,-1,"ESRRG","HGNC","HGNC:3474","protein_coding",null,"CCDS41468.1","ENSP00000386171","P62508.182","F1D8R5.73","UPI00000272E7","P62508-1","NM_001438.4","NM_001438.4","P4",null,"tolerated(0.09)","probably_damaging(0.979)","2024-02-07",null,"PIRSF:PIRSF002527;PIRSF:PIRSF500939;PANTHER:PTHR24084;PANTHER:PTHR24084:SF21",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AGTCAAGTCCG","74b7e6f5-2e02-4719-a338-13addde61574","98071c47-9aef-446a-98a9-9423683965ea","0e99c305-c69f-4fb4-84d6-29cac1cc9d39",null,"COSM4028273;COSM4028274","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HECW1",23072,"BI","GRCh38","chr7",43438045,43438045,"+","Nonsense_Mutation","SNP","G","G","T",null,null,"TCGA-D7-A6EZ","TCGA-D7-A6EZ-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"032b6245-13c5-45a9-9a71-6a2c8d7772f7","cd33fe15-4ef2-48d2-afee-1ce7baeda119","c.844G>T","p.Glu282Ter","p.E282*","ENST00000395891","2024-09-30",165,96,69,146,null,null,"HECW1,stop_gained,p.E282*,ENST00000395891,NM_015052.5,c.844G>T,HIGH,YES,,,1;HECW1,stop_gained,p.E282*,ENST00000453890,NM_001287059.2,c.844G>T,HIGH,,,,1;HECW1,non_coding_transcript_exon_variant,,ENST00000471043,,n.336G>T,MODIFIER,,,,1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,,n.1468G>T,MODIFIER,,,,1","T","ENSG00000002746","ENST00000395891","Transcript","stop_gained","stop_gained","1401/9453","844/4821","282/1606","E/*","Gag/Tag","COSV101223039;COSV67839296",null,1,"HECW1","HGNC","HGNC:22195","protein_coding","YES","CCDS5469.2","ENSP00000379228","Q76N89.142",null,"UPI0000D74C41","Q76N89-1","NM_015052.5","NM_015052.5","P4",{"$nulls":3},"2024-09-30",null,"PROSITE_profiles:PS50004;CDD:cd08691;PANTHER:PTHR11254;PANTHER:PTHR11254:SF79;Pfam:PF00168;Gene3D:2.60.40.150;SMART:SM00239;Superfamily:SSF49562",{"$nulls":33},"1;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"1;1",null,"AAATTGAGGTG","f824dec4-abc6-4c84-9bb0-3c29b41b1df1","20c30f21-4571-4768-bf7d-06bcc1f66326","263b18e1-5722-4650-b16b-dac1961a3af8",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STYK1",55359,"BI","GRCh38","chr12",10624675,10624675,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-D7-A6EZ","TCGA-D7-A6EZ-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"032b6245-13c5-45a9-9a71-6a2c8d7772f7","cd33fe15-4ef2-48d2-afee-1ce7baeda119","c.902G>C","p.Arg301Thr","p.R301T","ENST00000075503","2024-08-11",188,133,55,250,null,null,"STYK1,missense_variant,p.R301T,ENST00000075503,NM_018423.3,c.902G>C,MODERATE,YES,deleterious(0.02),benign(0.011),-1;STYK1,downstream_gene_variant,,ENST00000542924,,,MODIFIER,,,,-1","G","ENSG00000060140","ENST00000075503","Transcript","missense_variant","missense_variant","1183/2771","902/1269","301/422","R/T","aGa/aCa","COSV99311700",null,-1,"STYK1","HGNC","HGNC:18889","protein_coding","YES","CCDS8629.1","ENSP00000075503","Q6J9G0.145",null,"UPI000013C57C",null,"NM_018423.3","NM_018423.3","P1",null,"deleterious(0.02)","benign(0.011)","2024-08-11",null,"PROSITE_profiles:PS50011;PANTHER:PTHR24418;PANTHER:PTHR24418:SF269;Pfam:PF07714;Gene3D:1.10.510.10;Superfamily:SSF56112",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGGTCTCAGG","f824dec4-abc6-4c84-9bb0-3c29b41b1df1","20c30f21-4571-4768-bf7d-06bcc1f66326","263b18e1-5722-4650-b16b-dac1961a3af8",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CNTNAP2",26047,"BI","GRCh38","chr7",147486021,147486021,"+","Missense_Mutation","SNP","G","G","A","rs1554490567",null,"TCGA-HU-A4H5","TCGA-HU-A4H5-11A-11D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"26e080d1-cf7d-47c4-b396-034204ca8b04","aa498ac3-968f-488a-a476-d8d2b398fb49","c.1757G>A","p.Ser586Asn","p.S586N","ENST00000361727","2024-11-24",90,70,19,96,null,null,"CNTNAP2,missense_variant,p.S586N,ENST00000361727,NM_014141.6,c.1757G>A,MODERATE,YES,deleterious(0.03),benign(0.062),1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,,n.1619G>A,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,,n.1660G>A,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,,n.1240G>A,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,,n.1660G>A,MODIFIER,,,,1","A","ENSG00000174469","ENST00000361727","Transcript","missense_variant","missense_variant","1833/9454","1757/3996","586/1331","S/N","aGt/aAt","rs1554490567;COSV62149115",null,1,"CNTNAP2","HGNC","HGNC:13830","protein_coding","YES","CCDS5889.1","ENSP00000354778","Q9UHC6.195","A0A090N7T7.55","UPI00001285FA","Q9UHC6-1","NM_014141.6","NM_014141.6","P1",null,"deleterious(0.03)","benign(0.062)","2024-11-24",null,"PROSITE_profiles:PS50026;CDD:cd00054;PANTHER:PTHR15036;PANTHER:PTHR15036:SF33;Gene3D:2.10.25.10;SMART:SM00181;Superfamily:SSF57196;Superfamily:SSF56496",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"ATACAGTGGGG","5a583d55-65e1-428a-ac66-b51886f7574e","108c65e4-5251-4921-848e-0d9039001e82","d262fdf0-30bf-4618-9342-de5a2a053828",null,"COSM3879074","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAT2",2196,"BI","GRCh38","chr5",151566030,151566030,"+","Missense_Mutation","SNP","C","C","T","rs149531804",null,"TCGA-VQ-A94U","TCGA-VQ-A94U-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"b4a38697-2038-4b69-a161-f47774939284","eafdf1e0-dfab-4706-a1b3-505e0175b544","c.2902G>A","p.Ala968Thr","p.A968T","ENST00000261800","2024-01-23",34,23,11,26,null,null,"FAT2,missense_variant,p.A968T,ENST00000261800,NM_001447.2,c.2902G>A,MODERATE,YES,tolerated(0.52),benign(0.36),-1","T","ENSG00000086570","ENST00000261800","Transcript","missense_variant","missense_variant","2915/14534","2902/13050","968/4349","A/T","Gcc/Acc","rs149531804",null,-1,"FAT2","HGNC","HGNC:3596","protein_coding","YES","CCDS4317.1","ENSP00000261800","Q9NYQ8.181",null,"UPI0000055B22",null,"NM_001447.2",null,"P1",null,"tolerated(0.52)","benign(0.36)","2024-01-23",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24026;PANTHER:PTHR24026:SF37;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":6},0.0004539,0,"3.184e-05",0.0001846,0.0001446,0,0,0,0,0,0,0.0004539,"AA","4.0572300349595025e-05",1.45943005918525E-4,0,0,0,0,0,0,0,0,0,1.45943005918525E-4,"afr",{"$nulls":9},"MODERATE",1,"SNV",1,null,null,1,"ATGGGCGCCAT","1080841b-5921-483f-8b88-d5f867e74c92","7742138e-5ee4-4cd9-90a1-b6624402c14f","a0402de7-08ae-4528-9e77-289295ad8ef8",null,"COSM1064612","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EBF3",253738,"BI","GRCh38","chr10",129840988,129840988,"+","Missense_Mutation","SNP","C","C","T","rs150680609",null,"TCGA-IN-A6RI","TCGA-IN-A6RI-10A-01D-A32N-08",{"$nulls":8},"Somatic",{"$nulls":6},"a6d55473-743f-4fa0-a5c9-0b4f1e3a3552","ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3","c.1417G>A","p.Val473Ile","p.V473I","ENST00000355311","14/16",133,107,26,223,null,null,"EBF3,missense_variant,p.V473I,ENST00000440978,NM_001375390.1&NM_001375389.1&NM_001375380.1,c.1417G>A,MODERATE,YES,tolerated(0.32),benign(0.054),-1;EBF3,missense_variant,p.V464I,ENST00000368648,NM_001005463.3&NM_001375391.1,c.1390G>A,MODERATE,,tolerated_low_confidence(0.19),benign(0.003),-1;EBF3,missense_variant,p.V473I,ENST00000355311,NM_001375392.1&NM_001375379.1,c.1417G>A,MODERATE,,tolerated(0.31),benign(0),-1;MIR4297,downstream_gene_variant,,ENST00000579857,,,MODIFIER,YES,,,-1;EBF3,non_coding_transcript_exon_variant,,ENST00000675373,,n.1062G>A,MODIFIER,,,,-1;AL354950.1,upstream_gene_variant,,ENST00000614150,,,MODIFIER,YES,,,1;AL354950.2,downstream_gene_variant,,ENST00000617939,,,MODIFIER,YES,,,1","T","ENSG00000108001","ENST00000355311","Transcript","missense_variant","missense_variant","1923/3426","1417/1791","473/596","V/I","Gtc/Atc","rs150680609",null,-1,"EBF3","HGNC","HGNC:19087","protein_coding",null,null,"ENSP00000347463","Q9H4W6.163",null,"UPI0000127E28","Q9H4W6-1","NM_001375392.1;NM_001375379.1",null,"A1",null,"tolerated(0.31)","benign(0)","14/16",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR10747:SF4;PANTHER:PTHR10747",{"$nulls":6},0,0.0001163,"1.592e-05",0,"8.675e-05",0,0,0,"8.802e-06",0,0,0.0001163,"EA","2.7372099793865345e-05","2.4514600227121264e-05",0,"6.754929927410558e-05",0,0.000205086005735211,0,0,"1.5476500266231596e-05",0,0,{"$nulls":11},"MODERATE",null,"SNV",5,null,null,1,"GGGGACGTAGC","1181e248-6ec1-4054-8937-e0e9e2b4f31d","e98e13e3-c6f3-4f05-9937-9caf9e9a9404","ec178822-d719-4e98-b864-16ec5aa005a4",null,"COSM916177;COSM916178","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPTN",126638,"BI","GRCh38","chr1",152156206,152156206,"+","Missense_Mutation","SNP","G","G","A","rs760842504",null,"TCGA-B7-A5TJ","TCGA-B7-A5TJ-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"6b60ba65-2ca6-4dbb-adca-acf7863689fa","56421cb1-bc24-49b9-ae79-41b5ab94bf5a","c.893C>T","p.Thr298Met","p.T298M","ENST00000316073","2024-03-03",1054,1012,41,1025,null,null,"RPTN,missense_variant,p.T298M,ENST00000316073,NM_001122965.1,c.893C>T,MODERATE,YES,deleterious(0.01),benign(0.243),-1;PUDPP2,intron_variant,,ENST00000628080,,n.48-31501C>T,MODIFIER,YES,,,-1","A","ENSG00000215853","ENST00000316073","Transcript","missense_variant","missense_variant","958/3569","893/2355","298/784","T/M","aCg/aTg","rs760842504;COSV60167149",null,-1,"RPTN","HGNC","HGNC:26809","protein_coding","YES","CCDS41397.1","ENSP00000317895","Q6XPR3.125",null,"UPI00002371E2",null,"NM_001122965.1","NM_001122965.1","P1",null,"deleterious(0.01)","benign(0.243)","2024-03-03",null,"PANTHER:PTHR14054;PANTHER:PTHR14054;MobiDB_lite:mobidb-lite",{"$nulls":8},"4.816e-05","6.478e-05","2.897e-05",0,0.0002781,0,"2.656e-05",0,"6.536e-05",0.0002781,"gnomAD_EAS","4.0661401726538315e-05","4.883770088781603e-05",0,"6.638339982600883e-05",0,0.00040617398917675,0,0,"1.5453599189640954e-05",0,0,0.00040617398917675,"eas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TGTCCGTCTGA","dc2bf69d-d069-4a4f-ac81-98ba8709f227","6b5d7cc5-15e6-4593-9840-31f65f7a86bd","5624beab-545a-4a5b-960e-c33429572272",null,"COSM2184381","N","Unknown",{"$nulls":3},"muse;mutect2"]
["AMY2A",279,"BI","GRCh38","chr1",103617981,103617981,"+","Missense_Mutation","SNP","A","A","G","rs749935390",null,"TCGA-BR-A4PD","TCGA-BR-A4PD-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"2385d8ca-bd21-4d36-8ed9-1949a2165680","fc0f098d-8651-4be6-8401-e80d8641fbe1","c.196A>G","p.Ile66Val","p.I66V","ENST00000414303","2024-02-10",134,48,86,73,null,null,"AMY2A,missense_variant,p.I66V,ENST00000622339,,c.196A>G,MODERATE,YES,tolerated(0.88),benign(0),1;AMY2A,missense_variant,p.I66V,ENST00000414303,NM_000699.3,c.196A>G,MODERATE,,tolerated(0.88),benign(0),1;AMY2A,missense_variant,p.I65V,ENST00000423678,,c.193A>G,MODERATE,,tolerated(1),benign(0.003),1;AMY2A,upstream_gene_variant,,ENST00000497748,,,MODIFIER,,,,1","G","ENSG00000243480","ENST00000414303","Transcript","missense_variant","missense_variant","260/1634","196/1536","66/511","I/V","Att/Gtt","rs749935390;COSV70214501",null,1,"AMY2A","HGNC","HGNC:477","protein_coding",null,"CCDS783.1","ENSP00000397582","P04746.210",null,"UPI0000000C80","P04746-1","NM_000699.3",null,"P1",null,"tolerated(0.88)","benign(0)","2024-02-10",null,"PDB-ENSP_mappings:1b2y.A;PDB-ENSP_mappings:1bsi.A;PDB-ENSP_mappings:1cpu.A;PDB-ENSP_mappings:1hny.A;PDB-ENSP_mappings:1kb3.A;PDB-ENSP_mappings:1kbb.A;PDB-ENSP_mappings:1kbk.A;PDB-ENSP_mappings:1kgu.A;PDB-ENSP_mappings:1kgw.A;PDB-ENSP_mappings:1kgx.A;PDB-ENSP_mappings:1u2y.A;PDB-ENSP_mappings:1u30.A;PDB-ENSP_mappings:1u33.A;PDB-ENSP_mappings:1xcw.A;PDB-ENSP_mappings:1xcx.A;PDB-ENSP_mappings:1xd0.A;PDB-ENSP_mappings:1xd1.A;PDB-ENSP_mappings:1xgz.A;PDB-ENSP_mappings:1xh0.A;PDB-ENSP_mappings:1xh1.A;PDB-ENSP_mappings:1xh2.A;PDB-ENSP_mappings:2cpu.A;PDB-ENSP_mappings:2qmk.A;PDB-ENSP_mappings:2qv4.A;PDB-ENSP_mappings:3bai.A;PDB-ENSP_mappings:3baj.A;PDB-ENSP_mappings:3bak.A;PDB-ENSP_mappings:3baw.A;PDB-ENSP_mappings:3bax.A;PDB-ENSP_mappings:3bay.A;PDB-ENSP_mappings:3cpu.A;PDB-ENSP_mappings:3ij7.A;PDB-ENSP_mappings:3ij8.A;PDB-ENSP_mappings:3ij9.A;PDB-ENSP_mappings:3old.A;PDB-ENSP_mappings:3ole.A;PDB-ENSP_mappings:3olg.A;PDB-ENSP_mappings:3oli.A;PDB-ENSP_mappings:4gqq.A;PDB-ENSP_mappings:4gqr.A;PDB-ENSP_mappings:4w93.A;PDB-ENSP_mappings:4x9y.A;PDB-ENSP_mappings:5e0f.A;PDB-ENSP_mappings:5emy.A;PDB-ENSP_mappings:5kez.A;PDB-ENSP_mappings:5td4.A;PDB-ENSP_mappings:5u3a.A;PDB-ENSP_mappings:5va9.A;PDB-ENSP_mappings:5va9.B;PDB-ENSP_mappings:6obx.A;PDB-ENSP_mappings:6ocn.A;CDD:cd11317;PANTHER:PTHR43447;PANTHER:PTHR43447:SF27;Gene3D:3.20.20.80;SMART:SM00642;Superfamily:SSF51445",{"$nulls":8},"4.001e-06",0,0,0,0,0,"8.877e-06",0,0,"8.877e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TTGCAATTTAC","68739396-9784-4212-9298-9d6b7ed98ba7","90ff2d7a-7746-4e1a-9179-0ab335efb1b8","da2e8310-f54a-477e-a1fb-3f5542452780",null,"COSM4020057","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KIRREL1",55243,"BI","GRCh38","chr1",158094765,158094765,"+","Missense_Mutation","SNP","G","G","A","rs138458053",null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.1919G>A","p.Arg640His","p.R640H","ENST00000359209","15/15",59,39,20,67,null,null,"KIRREL1,missense_variant,p.R540H,ENST00000368173,NM_001286349.1,c.1619G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.828),1;KIRREL1,missense_variant,p.R640H,ENST00000359209,NM_018240.7,c.1919G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.557),1;KIRREL1,missense_variant,p.R454H,ENST00000368172,,c.1361G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.828),1;KIRREL1,missense_variant,p.R476H,ENST00000360089,,c.1427G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.719),1","A","ENSG00000183853","ENST00000359209","Transcript","missense_variant","missense_variant","1951/7448","1919/2274","640/757","R/H","cGt/cAt","rs138458053",null,1,"KIRREL1","HGNC","HGNC:15734","protein_coding","YES","CCDS1172.2","ENSP00000352138","Q96J84.164",null,"UPI0000443FBD","Q96J84-1","NM_018240.7","NM_018240.7","P1",null,"deleterious(0.02)","possibly_damaging(0.557)","15/15",null,"PANTHER:PTHR11640;PANTHER:PTHR11640:SF14",{"$nulls":6},0,0.0002326,"5.178e-05",0,"2.893e-05",0,0,0,"9.692e-05",0,"3.266e-05",0.0002326,"EA","6.7691098593059e-06",0,0,0,0,0,0,0,"1.5442599760717712e-05",0,0,{"$nulls":11},"MODERATE",1,"SNV",1,{"$nulls":3},"ATCCCGTCTCT","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM287125;COSM287126;COSM3689069","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC49A4",84925,"BI","GRCh38","chr3",122872539,122872539,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.1268del","p.Leu423Ter","p.L423*","ENST00000261038","2024-08-09",75,53,22,49,null,null,"SLC49A4,frameshift_variant,p.L423*,ENST00000261038,NM_032839.3,c.1268del,HIGH,YES,,,1;SLC49A4,3_prime_UTR_variant,,ENST00000477647,,c.*826del,MODIFIER,,,,1","-","ENSG00000138463","ENST00000261038","Transcript","frameshift_variant","frameshift_variant","1387/3322","1263/1437","421/478","T/X","acT/ac",null,null,1,"SLC49A4","HGNC","HGNC:16628","protein_coding","YES","CCDS3018.1","ENSP00000261038","Q96SL1.134",null,"UPI0000073CC7","Q96SL1-1","NM_032839.3","NM_032839.3","P1",{"$nulls":3},"2024-08-09",null,"Gene3D:1.20.1250.20;PANTHER:PTHR10924;PANTHER:PTHR10924:SF27;Superfamily:SSF103473;Transmembrane_helices:TMhelix;CDD:cd17397",{"$nulls":41},"HIGH",1,"deletion",1,5,null,1,"TGTCACTTTTTT","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM6048220","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZNF479",90827,"BI","GRCh38","chr7",57120487,57120487,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.928T>C","p.Ser310Pro","p.S310P","ENST00000319636","2024-04-04",122,114,8,151,null,null,"ZNF479,missense_variant,p.S310P,ENST00000331162,NM_033273.2,c.928T>C,MODERATE,YES,deleterious(0.02),possibly_damaging(0.502),-1;ZNF479,missense_variant,p.S310P,ENST00000319636,NM_001370129.1,c.928T>C,MODERATE,,deleterious(0.02),possibly_damaging(0.502),-1","G","ENSG00000185177","ENST00000319636","Transcript","missense_variant","missense_variant","945/1811","928/1575","310/524","S/P","Tca/Cca","COSV58637269",null,-1,"ZNF479","HGNC","HGNC:23258","protein_coding",null,"CCDS43590.1","ENSP00000324518","Q96JC4.154",null,"UPI000006E615",null,"NM_001370129.1",null,"P1",null,"deleterious(0.02)","possibly_damaging(0.502)","2024-04-04",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381;PANTHER:PTHR24381:SF295;PANTHER:PTHR24381:SF295;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGTTGAGGATA","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM3881930","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HAS2",3037,"BI","GRCh38","chr8",121614874,121614874,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.894T>G","p.Asp298Glu","p.D298E","ENST00000303924","2024-04-04",290,264,25,222,null,null,"HAS2,missense_variant,p.D298E,ENST00000303924,NM_005328.3,c.894T>G,MODERATE,YES,tolerated(1),benign(0.022),-1","C","ENSG00000170961","ENST00000303924","Transcript","missense_variant","missense_variant","1482/4240","894/1659","298/552","D/E","gaT/gaG","COSV58262788",null,-1,"HAS2","HGNC","HGNC:4819","protein_coding","YES","CCDS6335.1","ENSP00000306991","Q92819.152",null,"UPI000012C0A9",null,"NM_005328.3","NM_005328.3","P1",null,"tolerated(1)","benign(0.022)","2024-04-04",null,"Pfam:PF03142;PANTHER:PTHR22913;PANTHER:PTHR22913:SF7;Superfamily:SSF53448;CDD:cd06434",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TACCAATCTTC","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM3896498","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CTTN",2017,"BI","GRCh38","chr11",70415687,70415687,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.427G>A","p.Gly143Arg","p.G143R","ENST00000301843","2024-07-18",282,254,28,267,null,null,"CTTN,missense_variant,p.G143R,ENST00000346329,NM_138565.2,c.427G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;CTTN,missense_variant,p.G143R,ENST00000301843,NM_005231.4,c.427G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;CTTN,missense_variant,p.G143R,ENST00000376561,NM_001184740.2,c.427G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.963),1;CTTN,non_coding_transcript_exon_variant,,ENST00000415461,,n.372G>A,MODIFIER,,,,1;CTTN,non_coding_transcript_exon_variant,,ENST00000525276,,n.67G>A,MODIFIER,,,,1;CTTN,upstream_gene_variant,,ENST00000483662,,,MODIFIER,,,,1;CTTN,upstream_gene_variant,,ENST00000498223,,,MODIFIER,,,,1;CTTN,upstream_gene_variant,,ENST00000527962,,,MODIFIER,,,,1;CTTN,upstream_gene_variant,,ENST00000532334,,,MODIFIER,,,,1","A","ENSG00000085733","ENST00000301843","Transcript","missense_variant","missense_variant","610/3249","427/1653","143/550","G/R","Ggg/Agg","COSV57231036;COSV57233523",null,1,"CTTN","HGNC","HGNC:3338","protein_coding",null,"CCDS41680.1","ENSP00000301843","Q14247.206",null,"UPI000013D657","Q14247-1","NM_005231.4","NM_005231.4","P1",null,"deleterious(0)","probably_damaging(0.996)","2024-07-18",null,"Pfam:PF02218;PROSITE_profiles:PS51090;PANTHER:PTHR10829;PANTHER:PTHR10829:SF15",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"ACCAGGGGAAG","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM4036298;COSM4036299;COSM4036300","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CCDC42",146849,"BI","GRCh38","chr17",8735224,8735224,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.745G>A","p.Ala249Thr","p.A249T","ENST00000293845","2024-06-07",55,43,12,72,null,null,"CCDC42,missense_variant,p.A249T,ENST00000293845,NM_144681.3,c.745G>A,MODERATE,YES,tolerated(0.33),possibly_damaging(0.527),-1;CCDC42,missense_variant,p.A175T,ENST00000539522,NM_001158261.2,c.523G>A,MODERATE,,tolerated(0.29),benign(0.387),-1","T","ENSG00000161973","ENST00000293845","Transcript","missense_variant","missense_variant","972/1373","745/951","249/316","A/T","Gca/Aca","COSV53448405",null,-1,"CCDC42","HGNC","HGNC:26528","protein_coding","YES","CCDS11145.1","ENSP00000293845","Q96M95.115",null,"UPI000013E127","Q96M95-1","NM_144681.3","NM_144681.3","P1",null,"tolerated(0.33)","possibly_damaging(0.527)","2024-06-07",null,"PANTHER:PTHR21683;PANTHER:PTHR21683:SF8",{"$nulls":19},"6.763430064893328e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"GGCTGCGGTGT","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM4071105","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PPFIA3",8541,"BI","GRCh38","chr19",49139716,49139716,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-7707","TCGA-BR-7707-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"fff6694b-3619-4051-a868-c1fc86d59ce4","56b185dd-0b23-4ebb-8961-0f7538a940ab","c.2125G>A","p.Ala709Thr","p.A709T","ENST00000334186","17/30",80,61,19,75,null,null,"PPFIA3,missense_variant,p.A709T,ENST00000334186,NM_003660.4,c.2125G>A,MODERATE,YES,tolerated(1),benign(0.086),1;PPFIA3,missense_variant,p.A709T,ENST00000602351,,c.2125G>A,MODERATE,,tolerated(1),benign(0.149),1;PPFIA3,upstream_gene_variant,,ENST00000602848,,,MODIFIER,,,,1;PPFIA3,synonymous_variant,p.R634=,ENST00000602655,,c.1902G>A,LOW,,,,1;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,,n.1702G>A,MODIFIER,,,,1;PPFIA3,downstream_gene_variant,,ENST00000602716,,,MODIFIER,,,,1","A","ENSG00000177380","ENST00000334186","Transcript","missense_variant","missense_variant","2319/4583","2125/3585","709/1194","A/T","Gcc/Acc","COSV61950581",null,1,"PPFIA3","HGNC","HGNC:9247","protein_coding","YES","CCDS12758.1","ENSP00000335614","O75145.171",null,"UPI00001AE464","O75145-1","NM_003660.4","NM_003660.4","P4",null,"tolerated(1)","benign(0.086)","17/30",null,"PANTHER:PTHR12587;PANTHER:PTHR12587:SF4;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGCCGGCCATC","2af748fd-ab3b-44ab-8f8f-d4bdce0b084b","aea140ae-3725-4a0d-aafc-22e22ba15073","84d2d341-9e52-49ab-8c51-417208834c5d",null,"COSM4079993","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL11A1",1301,"BI","GRCh38","chr1",103008510,103008511,"+","Frame_Shift_Ins","INS","-","-","C","rs779795373",null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.1635dup","p.Pro546AlafsTer9","p.P546Afs*9","ENST00000370096","15/67",80,58,22,89,null,null,"COL11A1,frameshift_variant,p.P558Afs*9,ENST00000358392,NM_080629.2,c.1671dup,HIGH,YES,,,-1;COL11A1,frameshift_variant,p.P546Afs*9,ENST00000370096,NM_001854.4,c.1635dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P507Afs*9,ENST00000353414,NM_001190709.1,c.1518dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P430Afs*9,ENST00000512756,NM_080630.4,c.1287dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P546Afs*9,ENST00000644186,,c.1635dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P546Afs*9,ENST00000647280,,c.1635dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P597Afs*9,ENST00000461720,,c.1788dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P546Afs*9,ENST00000645458,,c.1635dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P558Afs*9,ENST00000427239,,c.1671dup,HIGH,,,,-1;COL11A1,frameshift_variant,p.P319Afs*9,ENST00000635193,,c.953dup,HIGH,,,,-1","C","ENSG00000060718","ENST00000370096","Transcript","frameshift_variant","frameshift_variant","1979-1980/7311","1635-1636/5421","545-546/1806","-/X","-/G","rs779795373",null,-1,"COL11A1","HGNC","HGNC:2186","protein_coding",null,"CCDS778.1","ENSP00000359114","P12107.219",null,"UPI00002053EF","P12107-1","NM_001854.4","NM_001854.4","P4",{"$nulls":3},"15/67",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR24023:SF42;PANTHER:PTHR24023;Pfam:PF01391",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",null,"insertion",1,null,null,1,"ACCAGGCCCCC","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM1332141;COSM1332142","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TARBP1",6894,"BI","GRCh38","chr1",234393682,234393682,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.4399G>A","p.Val1467Met","p.V1467M","ENST00000040877","27/30",103,77,26,74,null,null,"TARBP1,missense_variant,p.V1467M,ENST00000040877,NM_005646.4,c.4399G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,,n.2387G>A,MODIFIER,,,,-1;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,,n.984G>A,MODIFIER,,,,-1;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,,n.364G>A,MODIFIER,,,,-1;TARBP1,downstream_gene_variant,,ENST00000468077,,,MODIFIER,,,,-1;TARBP1,upstream_gene_variant,,ENST00000471918,,,MODIFIER,,,,-1;TARBP1,downstream_gene_variant,,ENST00000484454,,,MODIFIER,,,,-1","T","ENSG00000059588","ENST00000040877","Transcript","missense_variant","missense_variant","4475/5206","4399/4866","1467/1621","V/M","Gtg/Atg","COSV50185140",null,-1,"TARBP1","HGNC","HGNC:11568","protein_coding","YES","CCDS1601.1","ENSP00000040877","Q13395.150",null,"UPI000006DB0F",null,"NM_005646.4","NM_005646.4","P1",null,"deleterious(0)","probably_damaging(0.999)","27/30",null,"PDB-ENSP_mappings:2ha8.A;PDB-ENSP_mappings:2ha8.B;Gene3D:3.40.1280.10;Pfam:PF00588;PROSITE_profiles:PS51624;PANTHER:PTHR12029;PANTHER:PTHR12029:SF11;Superfamily:SSF75217;CDD:cd18091",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGCCACAACGA","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM4029699","N","Unknown",{"$nulls":3},"muse;mutect2"]
["EAF1",85403,"BI","GRCh38","chr3",15434373,15434373,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.361G>A","p.Ala121Thr","p.A121T","ENST00000396842","2024-04-06",374,298,75,310,null,null,"EAF1,missense_variant,p.A121T,ENST00000396842,NM_033083.7,c.361G>A,MODERATE,YES,tolerated(0.14),probably_damaging(0.977),1;METTL6,intron_variant,,ENST00000598878,,c.-125+4805C>T,MODIFIER,,,,-1;RNU6-1024P,upstream_gene_variant,,ENST00000384199,,,MODIFIER,YES,,,-1;EAF1,3_prime_UTR_variant,,ENST00000449565,,c.*20G>A,MODIFIER,,,,1;EAF1-AS1,downstream_gene_variant,,ENST00000494875,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000593876,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000594820,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000595627,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000595975,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000597949,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000608780,,,MODIFIER,,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000609310,,,MODIFIER,YES,,,-1;EAF1-AS1,downstream_gene_variant,,ENST00000629729,,,MODIFIER,,,,-1","A","ENSG00000144597","ENST00000396842","Transcript","missense_variant","missense_variant","543/4447","361/807","121/268","A/T","Gcc/Acc","COSV67657268",null,1,"EAF1","HGNC","HGNC:20907","protein_coding","YES","CCDS2626.1","ENSP00000380054","Q96JC9.135",null,"UPI000004B29F","Q96JC9-1","NM_033083.7","NM_033083.7","P1",null,"tolerated(0.14)","probably_damaging(0.977)","2024-04-06",null,"PANTHER:PTHR15970;PANTHER:PTHR15970:SF8;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCCAGGCCCGA","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM4114664","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STXBP5",134957,"BI","GRCh38","chr6",147359272,147359272,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.2498del","p.Pro833GlnfsTer11","p.P833Qfs*11","ENST00000321680","23/28",85,65,20,59,null,null,"STXBP5,frameshift_variant,p.P797Qfs*11,ENST00000367481,NM_139244.4,c.2390del,HIGH,,,,1;STXBP5,frameshift_variant,p.P833Qfs*11,ENST00000321680,NM_001127715.2,c.2498del,HIGH,YES,,,1;STXBP5,frameshift_variant,p.P780Qfs*11,ENST00000367480,,c.2339del,HIGH,,,,1;STXBP5,frameshift_variant,p.P157Qfs*11,ENST00000392291,,c.470del,HIGH,,,,1;STXBP5,frameshift_variant,p.P159Qfs*11,ENST00000367475,,c.474del,HIGH,,,,1","-","ENSG00000164506","ENST00000321680","Transcript","frameshift_variant","frameshift_variant","2494/3456","2494/3456","832/1151","P/X","Ccc/cc",null,null,1,"STXBP5","HGNC","HGNC:19665","protein_coding","YES","CCDS47499.1","ENSP00000321826","Q5T5C0.151",null,"UPI0000199FE0","Q5T5C0-1","NM_001127715.2",null,"A1",{"$nulls":3},"23/28",null,"PANTHER:PTHR10241;PANTHER:PTHR10241:SF22;Superfamily:SSF50978",{"$nulls":41},"HIGH",1,"deletion",5,4,null,null,"AACCTTCCCCCA","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CDH17",1015,"BI","GRCh38","chr8",94151881,94151881,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.1783G>T","p.Gly595Cys","p.G595C","ENST00000027335","13/18",85,71,14,79,null,null,"CDH17,missense_variant,p.G595C,ENST00000027335,NM_004063.4,c.1783G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;CDH17,missense_variant,p.G595C,ENST00000450165,NM_001144663.2,c.1783G>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CDH17,missense_variant,p.G381C,ENST00000441892,,c.1141G>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CDH17,intron_variant,,ENST00000520952,,c.236-3007G>T,MODIFIER,,,,-1","A","ENSG00000079112","ENST00000027335","Transcript","missense_variant","missense_variant","1876/3670","1783/2499","595/832","G/C","Ggt/Tgt","COSV50328844",null,-1,"CDH17","HGNC","HGNC:1756","protein_coding","YES","CCDS6260.1","ENSP00000027335","Q12864.170",null,"UPI000013C546",null,"NM_004063.4","NM_004063.4","P1",null,"deleterious(0)","probably_damaging(0.999)","13/18",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24027;PANTHER:PTHR24027:SF419;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAGACCTTCTG","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM3902128","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KRTAP5-10",387273,"BI","GRCh38","chr11",71565837,71565837,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.250T>C","p.Cys84Arg","p.C84R","ENST00000398531","2024-01-01",318,264,50,304,null,null,"KRTAP5-10,missense_variant,p.C84R,ENST00000398531,NM_001012710.2,c.250T>C,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.915),1;AP000867.1,upstream_gene_variant,,ENST00000511464,,,MODIFIER,YES,,,1;AP000867.5,upstream_gene_variant,,ENST00000661699,,,MODIFIER,YES,,,-1","C","ENSG00000204572","ENST00000398531","Transcript","missense_variant","missense_variant","275/1173","250/609","84/202","C/R","Tgt/Cgt","COSV64794800",null,1,"KRTAP5-10","HGNC","HGNC:23605","protein_coding","YES","CCDS41684.1","ENSP00000381542","Q6L8G5.99",null,"UPI0000376062",null,"NM_001012710.2","NM_001012710.2","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.915)","2024-01-01",null,"Low_complexity_(Seg):seg;PANTHER:PTHR23262;PANTHER:PTHR23262:SF178",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"GGGGCTGTGGT","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM4036409","N","Unknown",{"$nulls":3},"muse;varscan2"]
["NBEA",26960,"BI","GRCh38","chr13",35159940,35159940,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.3769G>A","p.Ala1257Thr","p.A1257T","ENST00000400445","22/58",23,19,4,12,null,null,"NBEA,missense_variant,p.A1257T,ENST00000400445,NM_015678.5,c.3769G>A,MODERATE,,tolerated_low_confidence(0.37),benign(0),1;NBEA,missense_variant,p.A1257T,ENST00000310336,,c.3769G>A,MODERATE,YES,tolerated_low_confidence(0.36),benign(0.011),1;NBEA,missense_variant,p.A1257T,ENST00000629018,,c.3769G>A,MODERATE,,tolerated_low_confidence(0.37),benign(0.003),1;NBEA,missense_variant,p.A1257T,ENST00000379939,NM_001379245.1,c.3769G>A,MODERATE,,tolerated_low_confidence(0.37),benign(0),1","A","ENSG00000172915","ENST00000400445","Transcript","missense_variant","missense_variant","4303/11119","3769/8841","1257/2946","A/T","Gca/Aca","COSV59786461",null,1,"NBEA","HGNC","HGNC:7648","protein_coding",null,"CCDS45026.1","ENSP00000383295","Q8NFP9.176",null,"UPI00004FF92F",null,"NM_015678.5",null,"P4",null,"tolerated_low_confidence(0.37)","benign(0)","22/58",null,"PANTHER:PTHR13743;PANTHER:PTHR13743:SF62",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"TTGATGCAGGA","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM4047193;COSM4047194","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SPSB3",90864,"BI","GRCh38","chr16",1778471,1778471,"+","Missense_Mutation","SNP","G","G","A","rs754518685",null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.268C>T","p.Arg90Trp","p.R90W","ENST00000301717","2024-02-06",38,30,8,56,null,null,"SPSB3,missense_variant,p.R90W,ENST00000566339,NM_080861.4,c.268C>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.714),-1;SPSB3,missense_variant,p.R90W,ENST00000301717,NM_001324081.1,c.268C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.714),-1;SPSB3,missense_variant,p.R90W,ENST00000569769,,c.268C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.714),-1;EME2,3_prime_UTR_variant,,ENST00000568449,NM_001257370.1,c.*2233G>A,MODIFIER,YES,,,1;NUBP2,upstream_gene_variant,,ENST00000262302,NM_012225.4,,MODIFIER,YES,,,1;NUBP2,upstream_gene_variant,,ENST00000563136,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000565134,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000565987,NM_001284501.2,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000568287,,,MODIFIER,,,,1;EME2,3_prime_UTR_variant,,ENST00000561903,,c.*778G>A,MODIFIER,,,,1;EME2,non_coding_transcript_exon_variant,,ENST00000570069,,n.3457G>A,MODIFIER,,,,1;SPSB3,non_coding_transcript_exon_variant,,ENST00000564709,,n.1020C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000569380,,n.331C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000563741,,n.373C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000567868,,n.336C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000563668,,n.294C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000565550,,n.491C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000563705,,n.420C>T,MODIFIER,,,,-1;SPSB3,non_coding_transcript_exon_variant,,ENST00000564070,,n.413C>T,MODIFIER,,,,-1;EME2,downstream_gene_variant,,ENST00000561564,,,MODIFIER,,,,1;EME2,downstream_gene_variant,,ENST00000564182,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000564227,,,MODIFIER,,,,1;EME2,downstream_gene_variant,,ENST00000565326,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000565603,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000566090,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000566447,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000567700,,,MODIFIER,,,,1;SPSB3,downstream_gene_variant,,ENST00000568416,,,MODIFIER,,,,-1;NUBP2,upstream_gene_variant,,ENST00000568834,,,MODIFIER,,,,1;NUBP2,upstream_gene_variant,,ENST00000569898,,,MODIFIER,,,,1","A","ENSG00000162032","ENST00000301717","Transcript","missense_variant","missense_variant","301/1449","268/1068","90/355","R/W","Cgg/Tgg","rs754518685;COSV51905902",null,-1,"SPSB3","HGNC","HGNC:30629","protein_coding",null,"CCDS32365.1","ENSP00000301717","Q6PJ21.129",null,"UPI000006FA20",null,"NM_001324081.1",null,"P1",null,"deleterious(0.02)","possibly_damaging(0.714)","2024-02-06",null,"PROSITE_profiles:PS50188;PANTHER:PTHR12245:SF5;PANTHER:PTHR12245",{"$nulls":8},"3.255e-05","6.355e-05",0,0,"5.476e-05",0,"1.821e-05",1.663E-4,"9.814e-05",1.663E-4,"gnomAD_OTH","6.758859854016919e-06",0,0,0,0,0,0,0,"1.5433099179062992e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCCCCGGTGGG","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM4058734","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MRTFA",57591,"BI","GRCh38","chr22",40418972,40418972,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-HU-A4G8","TCGA-HU-A4G8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"a17300cc-85e5-4bca-b0dc-fa26a81cb5f8","c1713247-24ff-4321-9f17-7c48dde00b22","c.1766T>C","p.Leu589Pro","p.L589P","ENST00000355630","2024-12-15",39,32,7,51,null,null,"MRTFA,missense_variant,p.L589P,ENST00000355630,NM_020831.6,c.1766T>C,MODERATE,YES,deleterious(0.03),probably_damaging(0.916),-1;MRTFA,missense_variant,p.L589P,ENST00000651595,NM_001282662.3,c.1766T>C,MODERATE,,deleterious(0.03),possibly_damaging(0.545),-1;MRTFA,missense_variant,p.L489P,ENST00000396617,,c.1466T>C,MODERATE,,deleterious(0.03),probably_damaging(0.942),-1;MRTFA,missense_variant,p.L539P,ENST00000402042,NM_001282661.3,c.1616T>C,MODERATE,,deleterious(0.04),probably_damaging(0.96),-1;MRTFA,missense_variant,p.L524P,ENST00000652095,NM_001318139.2,c.1571T>C,MODERATE,,deleterious(0.03),probably_damaging(0.991),-1;MRTFA,missense_variant,p.L489P,ENST00000407029,NM_001282660.2,c.1466T>C,MODERATE,,deleterious(0.03),probably_damaging(0.942),-1;MRTFA,missense_variant,p.L490P,ENST00000614754,,c.1469T>C,MODERATE,,deleterious(0.03),possibly_damaging(0.569),-1;MRTFA,missense_variant,p.L440P,ENST00000620651,,c.1319T>C,MODERATE,,deleterious(0.03),probably_damaging(0.999),-1;MRTFA,intron_variant,,ENST00000618417,,c.-1245-6080T>C,MODIFIER,,,,-1;MRTFA,upstream_gene_variant,,ENST00000477468,,,MODIFIER,,,,-1;AL022238.2,downstream_gene_variant,,ENST00000609279,,,MODIFIER,YES,,,1","G","ENSG00000196588","ENST00000355630","Transcript","missense_variant","missense_variant","2091/4522","1766/3096","589/1031","L/P","cTg/cCg","COSV62930909",null,-1,"MRTFA","HGNC","HGNC:14334","protein_coding","YES",null,"ENSP00000347847",null,"A0A499FIJ6.6","UPI000EA833A5",null,"NM_020831.6","NM_020831.6",null,null,"deleterious(0.03)","probably_damaging(0.916)","2024-12-15",null,"PANTHER:PTHR22793;PANTHER:PTHR22793:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCTGCAGGGTC","8da2b3f3-0db0-4f01-8e05-a01fbcea0381","0c93af52-b455-4976-b962-ca47d0c84607","16286ebd-6811-4e53-b4d5-82e1e825bc7a",null,"COSM3152910","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KPRP",448834,"BI","GRCh38","chr1",152761011,152761011,"+","Nonsense_Mutation","SNP","C","C","T","rs1165264771",null,"TCGA-D7-A4YT","TCGA-D7-A4YT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"f16cadc2-52ef-49b2-8cec-8929f4719d95","1cfe678d-c4cf-457a-8958-7c915f02eef7","c.1423C>T","p.Arg475Ter","p.R475*","ENST00000606109","2024-01-01",205,106,99,162,null,null,"KPRP,stop_gained,p.R475*,ENST00000606109,NM_001025231.2,c.1423C>T,HIGH,YES,,,1","T","ENSG00000203786","ENST00000606109","Transcript","stop_gained","stop_gained","1451/2492","1423/1740","475/579","R/*","Cga/Tga","rs1165264771;COSV100908797;COSV64222757",null,1,"KPRP","HGNC","HGNC:31823","protein_coding","YES","CCDS30862.1","ENSP00000475216","Q5T749.122",null,"UPI0000199942",null,"NM_001025231.2",null,"P1",{"$nulls":3},"2024-01-01",null,"Low_complexity_(Seg):seg",{"$nulls":19},"6.7597698034660425e-06",0,0,0,0,0.000201938993996009,0,0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"HIGH",1,"SNV",null,null,"0;1;1",null,"GTCCACGACCA","644c1058-8f33-481a-bb6d-27396ae5eb3c","284dc9b7-f600-4c97-9dcd-71596179aaee","6d5df29c-f2cc-43ce-8d2f-df1da313ad52",null,"COSM4022544","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRAMD1A",57655,"BI","GRCh38","chr19",35019231,35019231,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-D7-A4YT","TCGA-D7-A4YT-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"f16cadc2-52ef-49b2-8cec-8929f4719d95","1cfe678d-c4cf-457a-8958-7c915f02eef7","c.1254C>G","p.His418Gln","p.H418Q","ENST00000317991","2024-12-20",76,45,31,78,null,null,"GRAMD1A,missense_variant,p.H505Q,ENST00000599564,NM_001320036.2,c.1515C>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.541),1;GRAMD1A,missense_variant,p.H418Q,ENST00000317991,NM_020895.5&NM_001320034.2,c.1254C>G,MODERATE,,deleterious(0.02),benign(0.023),1;GRAMD1A,missense_variant,p.H411Q,ENST00000411896,NM_001320035.2&NM_001136199.3,c.1233C>G,MODERATE,,deleterious(0.02),benign(0.088),1;GRAMD1A,3_prime_UTR_variant,,ENST00000600231,,c.*472C>G,MODIFIER,,,,1;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000598118,,n.1040C>G,MODIFIER,,,,1;GRAMD1A,downstream_gene_variant,,ENST00000595596,,,MODIFIER,,,,1;GRAMD1A,downstream_gene_variant,,ENST00000598362,,,MODIFIER,,,,1;GRAMD1A,upstream_gene_variant,,ENST00000603907,,,MODIFIER,,,,1;AC020907.4,intron_variant,,ENST00000605640,,n.435-4179G>C,MODIFIER,YES,,,-1","G","ENSG00000089351","ENST00000317991","Transcript","missense_variant","missense_variant","1446/2695","1254/2175","418/724","H/Q","caC/caG","COSV58768668",null,1,"GRAMD1A","HGNC","HGNC:29305","protein_coding",null,"CCDS42546.1","ENSP00000441032","Q96CP6.126",null,"UPI00000377B4","Q96CP6-1","NM_020895.5;NM_001320034.2",null,"P2",null,"deleterious(0.02)","benign(0.023)","2024-12-20",null,"PROSITE_profiles:PS51778;PANTHER:PTHR23319;PANTHER:PTHR23319:SF8;Pfam:PF16016",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TGCCACCAGCG","644c1058-8f33-481a-bb6d-27396ae5eb3c","284dc9b7-f600-4c97-9dcd-71596179aaee","6d5df29c-f2cc-43ce-8d2f-df1da313ad52",null,"COSM4076919","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPHA4",2043,"BI","GRCh38","chr2",221563809,221563809,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-SW-A7EA","TCGA-SW-A7EA-10A-01D-A34X-08",{"$nulls":8},"Somatic",{"$nulls":6},"205c962b-96d0-4749-b98d-008e6682bd85","8a7fd11e-d477-4b6e-a23f-e872bce8207d","c.745G>A","p.Ala249Thr","p.A249T","ENST00000281821","2024-03-18",80,55,25,87,null,null,"EPHA4,missense_variant,p.A249T,ENST00000281821,NM_001304536.1&NM_001304537.2&NM_004438.5,c.745G>A,MODERATE,YES,tolerated(0.17),probably_damaging(0.914),-1;EPHA4,missense_variant,p.A249T,ENST00000409854,NM_001363748.2,c.745G>A,MODERATE,,tolerated(0.16),probably_damaging(0.914),-1;EPHA4,missense_variant,p.A249T,ENST00000409938,,c.745G>A,MODERATE,,tolerated(0.17),probably_damaging(0.914),-1;EPHA4,intron_variant,,ENST00000443796,,c.91+8349G>A,MODIFIER,,,,-1;EPHA4,downstream_gene_variant,,ENST00000419964,,,MODIFIER,,,,-1;EPHA4,downstream_gene_variant,,ENST00000434266,,,MODIFIER,,,,-1;EPHA4,downstream_gene_variant,,ENST00000541600,,,MODIFIER,,,,-1;EPHA4,downstream_gene_variant,,ENST00000415749,,,MODIFIER,,,,-1","T","ENSG00000116106","ENST00000281821","Transcript","missense_variant","missense_variant","801/6362","745/2961","249/986","A/T","Gca/Aca","COSV99917529",null,-1,"EPHA4","HGNC","HGNC:3388","protein_coding","YES","CCDS2447.1","ENSP00000281821","P54764.205","A1MA61.3","UPI000012A077","P54764-1","NM_001304536.1;NM_001304537.2;NM_004438.5","NM_004438.5","P1",null,"tolerated(0.17)","probably_damaging(0.914)","2024-03-18",null,"Gene3D:2.60.40.1770;PDB-ENSP_mappings:4bk4.A;PDB-ENSP_mappings:4bk4.B;PDB-ENSP_mappings:4bk5.A;PDB-ENSP_mappings:4bka.A;PDB-ENSP_mappings:4bkf.A;PDB-ENSP_mappings:4bkf.B;PDB-ENSP_mappings:4m4p.A;PDB-ENSP_mappings:4m4r.A;PDB-ENSP_mappings:4m4r.C;PDB-ENSP_mappings:4m4r.E;PDB-ENSP_mappings:4m4r.G;PIRSF:PIRSF000666;PROSITE_patterns:PS00791;PANTHER:PTHR24416;PANTHER:PTHR24416:SF337",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ATCTGCCCCAC","2b1018e5-6a12-4a6e-8cd9-7cbacd39812a","2ded0a6a-f24c-4b33-8ed3-fb735704ca79","76c666e8-75c0-4e82-978c-1e346435b0fa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C12orf56",115749,"BI","GRCh38","chr12",64390562,64390562,"+","Missense_Mutation","SNP","C","C","T","rs1422577952",null,"TCGA-SW-A7EA","TCGA-SW-A7EA-10A-01D-A34X-08",{"$nulls":8},"Somatic",{"$nulls":6},"205c962b-96d0-4749-b98d-008e6682bd85","8a7fd11e-d477-4b6e-a23f-e872bce8207d","c.4G>A","p.Ala2Thr","p.A2T","ENST00000543942","2024-01-13",16,12,4,19,null,null,"C12orf56,missense_variant,p.A2T,ENST00000543942,NM_001170633.2,c.4G>A,MODERATE,YES,deleterious(0),probably_damaging(0.981),-1;C12orf56,missense_variant,p.A2T,ENST00000333722,NM_001099676.3,c.4G>A,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.909),-1;C12orf56,upstream_gene_variant,,ENST00000543259,,,MODIFIER,,,,-1;AC012158.1,intron_variant,,ENST00000482431,,n.468-1015C>T,MODIFIER,,,,1;AC012158.1,intron_variant,,ENST00000535684,,n.702-1015C>T,MODIFIER,YES,,,1;AC012158.1,upstream_gene_variant,,ENST00000488306,,,MODIFIER,,,,1","T","ENSG00000185306","ENST00000543942","Transcript","missense_variant","missense_variant","197/4483","4/1869","2/622","A/T","Gcc/Acc","rs1422577952;COSV100399857",null,-1,"C12orf56","HGNC","HGNC:26967","protein_coding","YES","CCDS61182.1","ENSP00000446101","Q8IXR9.102",null,"UPI0001C0B37D","Q8IXR9-1","NM_001170633.2","NM_001170633.2","P1",null,"deleterious(0)","probably_damaging(0.981)","2024-01-13",{"$nulls":10},"1.463e-05",0,0,0,0,0,"3.18e-05",0,0,"3.18e-05","gnomAD_NFE","1.3524700079869945e-05",0,0,0,0,0,0,0,"3.0871800845488906e-05",0,0,"3.0871800845488906e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",null,"GCTGGCCATGC","2b1018e5-6a12-4a6e-8cd9-7cbacd39812a","2ded0a6a-f24c-4b33-8ed3-fb735704ca79","76c666e8-75c0-4e82-978c-1e346435b0fa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RNF213",57674,"BI","GRCh38","chr17",80348195,80348195,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-SW-A7EA","TCGA-SW-A7EA-10A-01D-A34X-08",{"$nulls":8},"Somatic",{"$nulls":6},"205c962b-96d0-4749-b98d-008e6682bd85","8a7fd11e-d477-4b6e-a23f-e872bce8207d","c.9860A>G","p.Tyr3287Cys","p.Y3287C","ENST00000582970","29/68",69,48,21,61,null,null,"RNF213,missense_variant,p.Y3287C,ENST00000582970,NM_001256071.3,c.9860A>G,MODERATE,,deleterious(0),probably_damaging(1),1;RNF213,missense_variant,p.Y3336C,ENST00000508628,,c.10007A>G,MODERATE,YES,deleterious(0),probably_damaging(1),1;RNF213-AS1,downstream_gene_variant,,ENST00000575034,,,MODIFIER,YES,,,-1;RNF213-AS1,downstream_gene_variant,,ENST00000613190,,,MODIFIER,,,,-1","G","ENSG00000173821","ENST00000582970","Transcript","missense_variant","missense_variant","10003/21055","9860/15624","3287/5207","Y/C","tAc/tGc","COSV100301538",null,1,"RNF213","HGNC","HGNC:14539","protein_coding",null,"CCDS58606.1","ENSP00000464087",null,"A0A0A0MTR7.48","UPI00043788D6",null,"NM_001256071.3",null,"P4",null,"deleterious(0)","probably_damaging(1)","29/68",null,"PANTHER:PTHR22605;PANTHER:PTHR22605:SF18",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGAGTACTTTC","2b1018e5-6a12-4a6e-8cd9-7cbacd39812a","2ded0a6a-f24c-4b33-8ed3-fb735704ca79","76c666e8-75c0-4e82-978c-1e346435b0fa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GABRE",2564,"BI","GRCh38","chrX",151955445,151955445,"+","Missense_Mutation","SNP","C","C","T","rs61740527",null,"TCGA-SW-A7EA","TCGA-SW-A7EA-10A-01D-A34X-08",{"$nulls":8},"Somatic",{"$nulls":6},"205c962b-96d0-4749-b98d-008e6682bd85","8a7fd11e-d477-4b6e-a23f-e872bce8207d","c.1060G>A","p.Ala354Thr","p.A354T","ENST00000370328","2024-08-09",99,67,32,114,null,null,"GABRE,missense_variant,p.A354T,ENST00000370328,NM_004961.4,c.1060G>A,MODERATE,YES,deleterious(0.04),benign(0.175),-1;MIR224,downstream_gene_variant,,ENST00000384889,,,MODIFIER,YES,,,-1;MIR452,downstream_gene_variant,,ENST00000385020,,,MODIFIER,YES,,,-1;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,,n.710G>A,MODIFIER,,,,-1;GABRE,non_coding_transcript_exon_variant,,ENST00000462018,,n.602G>A,MODIFIER,,,,-1;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,,n.4139G>A,MODIFIER,,,,-1;GABRE,non_coding_transcript_exon_variant,,ENST00000489333,,n.251G>A,MODIFIER,,,,-1;GABRE,intron_variant,,ENST00000495862,,n.206+263G>A,MODIFIER,,,,-1;GABRE,downstream_gene_variant,,ENST00000441219,,,MODIFIER,,,,-1;GABRE,downstream_gene_variant,,ENST00000476016,,,MODIFIER,,,,-1","T","ENSG00000102287","ENST00000370328","Transcript","missense_variant","missense_variant","1111/3149","1060/1521","354/506","A/T","Gct/Act","rs61740527;COSV100944190;COSV100944387",null,-1,"GABRE","HGNC","HGNC:4085","protein_coding","YES","CCDS14703.1","ENSP00000359353","P78334.175",null,"UPI00000307E6","P78334-1","NM_004961.4","NM_004961.4","P1",null,"deleterious(0.04)","benign(0.175)","2024-08-09",null,"Pfam:PF02932;Prints:PR00253;PANTHER:PTHR18945;PANTHER:PTHR18945:SF397;Superfamily:SSF90112;TIGRFAM:TIGR00860;Transmembrane_helices:TMhelix;CDD:cd19057",{"$nulls":8},"2.184e-05",0,0,0,"7.215e-05",0,"3.673e-05",0,0,"7.215e-05","gnomAD_EAS","1.8307999198441394e-05",0,0,0,0,0,0,0,"3.9183400076581165e-05",0,0,"3.9183400076581165e-05","nfe",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"CAGAGCGCAGA","2b1018e5-6a12-4a6e-8cd9-7cbacd39812a","2ded0a6a-f24c-4b33-8ed3-fb735704ca79","76c666e8-75c0-4e82-978c-1e346435b0fa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EIF2AK2",5610,"BI","GRCh38","chr2",37120117,37120117,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.1090A>G","p.Ile364Val","p.I364V","ENST00000233057","13/17",36,23,13,50,null,null,"EIF2AK2,missense_variant,p.I364V,ENST00000233057,NM_001135651.3,c.1090A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.995),-1;EIF2AK2,missense_variant,p.I364V,ENST00000395127,NM_002759.3,c.1090A>G,MODERATE,,deleterious(0.01),probably_damaging(0.995),-1;EIF2AK2,missense_variant,p.I323V,ENST00000405334,NM_001135652.2,c.967A>G,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;EIF2AK2,missense_variant,p.I364V,ENST00000647926,,c.1090A>G,MODERATE,,deleterious(0.01),probably_damaging(0.995),-1","C","ENSG00000055332","ENST00000233057","Transcript","missense_variant","missense_variant","1346/9975","1090/1656","364/551","I/V","Atc/Gtc","COSV51797358",null,-1,"EIF2AK2","HGNC","HGNC:9437","protein_coding","YES","CCDS1786.1","ENSP00000233057","P19525.232",null,"UPI000000D925","P19525-1","NM_001135651.3","NM_001135651.3","P1",null,"deleterious(0.01)","probably_damaging(0.995)","13/17",null,"PDB-ENSP_mappings:2a19.B;PDB-ENSP_mappings:2a19.C;PDB-ENSP_mappings:2a1a.B;PDB-ENSP_mappings:3uiu.A;PDB-ENSP_mappings:3uiu.B;PDB-ENSP_mappings:6d3k.A;PDB-ENSP_mappings:6d3k.B;PDB-ENSP_mappings:6d3k.C;PDB-ENSP_mappings:6d3l.A;PROSITE_profiles:PS50011;CDD:cd14047;PANTHER:PTHR11042:SF90;PANTHER:PTHR11042;Gene3D:3.30.200.20;Pfam:PF00069;SMART:SM00220;Superfamily:SSF56112",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,1,"TTGGATGAAAA","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM4094082","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MARVELD2",153562,"BI","GRCh38","chr5",69419530,69419530,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.149del","p.Pro50LeufsTer22","p.P50Lfs*22","ENST00000325631","2024-02-07",78,64,13,106,null,null,"MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000325631,NM_001038603.3,c.149del,HIGH,YES,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000454295,NM_001244734.2,c.149del,HIGH,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000647531,,c.149del,HIGH,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000645446,,c.149del,HIGH,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000512803,,c.149del,HIGH,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000436532,,c.149del,HIGH,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000515844,,c.149del,HIGH,,,,1;RAD17,downstream_gene_variant,,ENST00000305138,NM_002873.1,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000345306,NM_133344.3,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000354312,NM_133342.3,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000354868,NM_133338.3,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000358030,NM_133340.2,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000361732,NM_133343.1,,MODIFIER,,,,1;RAD17,downstream_gene_variant,,ENST00000509734,,,MODIFIER,YES,,,1;RAD17,downstream_gene_variant,,ENST00000616683,NM_001278622.1,,MODIFIER,,,,1;MARVELD2,frameshift_variant,p.P50Lfs*22,ENST00000413223,,c.149del,HIGH,,,,1","-","ENSG00000152939","ENST00000325631","Transcript","frameshift_variant","frameshift_variant","215/4423","145/1677","49/558","P/X","Ccc/cc",null,null,1,"MARVELD2","HGNC","HGNC:26401","protein_coding","YES","CCDS34175.1","ENSP00000323264","Q8N4S9.150",null,"UPI00001416EB","Q8N4S9-1","NM_001038603.3","NM_001038603.3","P4",{"$nulls":3},"2024-02-07",null,"PANTHER:PTHR23288;PANTHER:PTHR23288:SF3;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,4,null,1,"CCACCACCCCCT","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AGTPBP1",23287,"BI","GRCh38","chr9",85588325,85588325,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.2876T>C","p.Leu959Ser","p.L959S","ENST00000357081","21/26",35,21,14,61,null,null,"AGTPBP1,missense_variant,p.L1011S,ENST00000337006,NM_001286715.1,c.3032T>C,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1;AGTPBP1,missense_variant,p.L959S,ENST00000357081,NM_001330701.2,c.2876T>C,MODERATE,,deleterious(0),probably_damaging(0.993),-1;AGTPBP1,missense_variant,p.L971S,ENST00000628899,NM_001286717.1,c.2912T>C,MODERATE,,deleterious(0),possibly_damaging(0.81),-1;AGTPBP1,missense_variant,p.L919S,ENST00000376083,NM_015239.2,c.2756T>C,MODERATE,,deleterious(0),probably_damaging(0.978),-1","G","ENSG00000135049","ENST00000357081","Transcript","missense_variant","missense_variant","3089/4464","2876/3681","959/1226","L/S","tTa/tCa","COSV61273538",null,-1,"AGTPBP1","HGNC","HGNC:17258","protein_coding",null,"CCDS83382.1","ENSP00000349592","Q9UPW5.144",null,"UPI0000210BFC","Q9UPW5-1","NM_001330701.2","NM_001330701.2","P4",null,"deleterious(0)","probably_damaging(0.993)","21/26",null,"CDD:cd06906;PANTHER:PTHR12756;PANTHER:PTHR12756:SF24;Gene3D:3.40.630.10;Pfam:PF00246;Superfamily:SSF53187",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"GATTTAACATA","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM3908612;COSM3908613","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MTNR1B",4544,"BI","GRCh38","chr11",92969918,92969918,"+","Missense_Mutation","SNP","G","G","A","rs758044308",null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.193G>A","p.Val65Met","p.V65M","ENST00000257068","2024-01-02",27,18,8,38,null,null,"MTNR1B,missense_variant,p.V65M,ENST00000257068,NM_005959.5,c.193G>A,MODERATE,YES,deleterious(0),probably_damaging(0.984),1;MTNR1B,missense_variant,p.R46H,ENST00000528076,,c.137G>A,MODERATE,,,unknown(0),1;MTNR1B,missense_variant,p.V65M,ENST00000532482,,c.193G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;AP003171.1,downstream_gene_variant,,ENST00000532770,,,MODIFIER,YES,,,1","A","ENSG00000134640","ENST00000257068","Transcript","missense_variant","missense_variant","268/1634","193/1089","65/362","V/M","Gtg/Atg","rs758044308;COSV57067160",null,1,"MTNR1B","HGNC","HGNC:7464","protein_coding","YES","CCDS8290.1","ENSP00000257068","P49286.164",null,"UPI0000050408",null,"NM_005959.5","NM_005959.5","P1",null,"deleterious(0)","probably_damaging(0.984)","2024-01-02",null,"PDB-ENSP_mappings:6me6.A;PDB-ENSP_mappings:6me6.B;PDB-ENSP_mappings:6me7.A;PDB-ENSP_mappings:6me7.B;PDB-ENSP_mappings:6me8.A;PDB-ENSP_mappings:6me8.B;PDB-ENSP_mappings:6me9.A;PDB-ENSP_mappings:6me9.B;Transmembrane_helices:TMhelix;CDD:cd15400;Gene3D:1.20.1070.10;Pfam:PF00001;SMART:SM01381;Superfamily:SSF81321;PROSITE_profiles:PS50262;PANTHER:PTHR24228:SF54;PANTHER:PTHR24228;Prints:PR00237",{"$nulls":8},"4.113e-06",0,0,0,0,0,"9.207e-06",0,0,"9.207e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TCTCCGTGCTC","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM4037639","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GNPTAB",79158,"BI","GRCh38","chr12",101770540,101770540,"+","Missense_Mutation","SNP","C","C","T","rs779983477",null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.979G>A","p.Glu327Lys","p.E327K","ENST00000299314","2024-09-21",43,27,16,52,null,null,"GNPTAB,missense_variant,p.E327K,ENST00000299314,NM_024312.5,c.979G>A,MODERATE,YES,deleterious(0),probably_damaging(0.97),-1;GNPTAB,missense_variant,p.E327K,ENST00000549940,,c.979G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.815),-1;AC063950.1,downstream_gene_variant,,ENST00000600133,,,MODIFIER,YES,,,-1;GNPTAB,upstream_gene_variant,,ENST00000552009,,,MODIFIER,,,,-1;AC063950.1,downstream_gene_variant,,ENST00000552036,,,MODIFIER,,,,-1","T","ENSG00000111670","ENST00000299314","Transcript","missense_variant","missense_variant","1263/5720","979/3771","327/1256","E/K","Gaa/Aaa","rs779983477;COSV54778636",null,-1,"GNPTAB","HGNC","HGNC:29670","protein_coding","YES","CCDS9088.1","ENSP00000299314","Q3T906.140",null,"UPI000004CC0C","Q3T906-1","NM_024312.5","NM_024312.5","P1",null,"deleterious(0)","probably_damaging(0.97)","2024-09-21",null,"PANTHER:PTHR24045;PANTHER:PTHR24045:SF0;Pfam:PF11380",{"$nulls":8},"1.99e-05",0,"5.782e-05",0,0,"4.621e-05","1.761e-05",0,0,"5.782e-05","gnomAD_AMR","6.762149951100582e-06",0,0,0,0,0,0,0,0,0,2.08247001864947E-4,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TTCTTCGTTAT","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM4038039;COSM4038040","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATP2A1",487,"BI","GRCh38","chr16",28898248,28898248,"+","Missense_Mutation","SNP","G","G","A","rs200092983",null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.1561G>A","p.Val521Ile","p.V521I","ENST00000357084","14/22",97,67,30,135,null,null,"ATP2A1,missense_variant,p.V521I,ENST00000357084,NM_173201.4,c.1561G>A,MODERATE,YES,tolerated(0.6),benign(0.03),1;ATP2A1,missense_variant,p.V521I,ENST00000395503,NM_004320.6,c.1561G>A,MODERATE,,tolerated(0.6),benign(0.017),1;ATP2A1,missense_variant,p.V396I,ENST00000536376,NM_001286075.1,c.1186G>A,MODERATE,,tolerated(0.63),benign(0.044),1;ATP2A1,downstream_gene_variant,,ENST00000565042,,,MODIFIER,,,,1;ATP2A1,3_prime_UTR_variant,,ENST00000564732,,c.*204G>A,MODIFIER,,,,1;ATP2A1,downstream_gene_variant,,ENST00000564470,,,MODIFIER,,,,1;AC009093.11,intron_variant,,ENST00000675058,,n.111-457539G>A,MODIFIER,YES,,,1","A","ENSG00000196296","ENST00000357084","Transcript","missense_variant","missense_variant","1828/3532","1561/3006","521/1001","V/I","Gtc/Atc","rs200092983;COSV63921560",null,1,"ATP2A1","HGNC","HGNC:811","protein_coding","YES","CCDS10643.1","ENSP00000349595","O14983.201",null,"UPI000003B461","O14983-1","NM_173201.4",{"$nulls":3},"tolerated(0.6)","benign(0.03)","14/22",null,"Gene3D:1.20.1110.10;Gene3D:3.40.1110.10;Gene3D:3.40.50.1000;Pfam:PF13246;PANTHER:PTHR42861;PANTHER:PTHR42861:SF18;SFLD:SFLDF00027;SFLD:SFLDS00003;Superfamily:SSF81660;Superfamily:SSF81665;TIGRFAM:TIGR01116;CDD:cd02083",{"$nulls":8},"7.159e-05",0,"5.782e-05",0,1.087E-4,"4.621e-05",1.143E-4,0,0,1.143E-4,"gnomAD_NFE",1.08114996692165E-4,"2.4303699319716543e-05",0,0.000198727997485548,0,0,0,0,0.000185145006980746,0,0,0.000198727997485548,"amr","uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"1;1",1,"AGGGCGTCATC","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM4059889","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC2A10",81031,"BI","GRCh38","chr20",46725740,46725740,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-7851","TCGA-BR-7851-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"f92f7feb-3623-4ccd-8cc1-e27f757f9b21","8c961372-743b-47d3-9bdf-0c75927bc4bb","c.704G>A","p.Gly235Asp","p.G235D","ENST00000359271","2024-02-05",131,95,36,160,null,null,"SLC2A10,missense_variant,p.G235D,ENST00000359271,NM_030777.4,c.704G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;SLC2A10,downstream_gene_variant,,ENST00000611837,,,MODIFIER,,,,1","A","ENSG00000197496","ENST00000359271","Transcript","missense_variant","missense_variant","792/4227","704/1626","235/541","G/D","gGc/gAc","COSV63715164",null,1,"SLC2A10","HGNC","HGNC:13444","protein_coding","YES","CCDS13402.1","ENSP00000352216","O95528.168",null,"UPI000012BC8D",null,"NM_030777.4","NM_030777.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-02-05",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50850;CDD:cd17436;PANTHER:PTHR23500;PANTHER:PTHR23500:SF81;Pfam:PF00083;Superfamily:SSF103473",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGTGGGCCTGG","3f3a2599-ca39-47a0-922a-0d6b30d78caa","a4e1f962-f5d5-496a-8cc2-162d2f35ac16","08c73b36-ede5-4136-b73b-0e964d432f89",null,"COSM4099047","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IQGAP1",8826,"BI","GRCh38","chr15",90492609,90492609,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-D7-6525","TCGA-D7-6525-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"1802f450-e90b-4642-9408-cc9736df76b5","3cbf6b07-f408-4018-a236-41c3e280c557","c.4526C>T","p.Thr1509Ile","p.T1509I","ENST00000268182","35/38",49,36,13,47,null,null,"IQGAP1,missense_variant,p.T1509I,ENST00000268182,NM_003870.4,c.4526C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;IQGAP1,missense_variant,p.T937I,ENST00000560738,,c.2810C>T,MODERATE,,deleterious(0),probably_damaging(1),1;IQGAP1,3_prime_UTR_variant,,ENST00000633485,,c.*998C>T,MODIFIER,,,,1;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561461,,n.713C>T,MODIFIER,,,,1;IQGAP1,non_coding_transcript_exon_variant,,ENST00000559674,,n.392C>T,MODIFIER,,,,1;IQGAP1,upstream_gene_variant,,ENST00000558957,,,MODIFIER,,,,1;IQGAP1,downstream_gene_variant,,ENST00000559031,,,MODIFIER,,,,1;IQGAP1,upstream_gene_variant,,ENST00000561086,,,MODIFIER,,,,1;IQGAP1,downstream_gene_variant,,ENST00000561132,,,MODIFIER,,,,1","T","ENSG00000140575","ENST00000268182","Transcript","missense_variant","missense_variant","4626/7205","4526/4974","1509/1657","T/I","aCa/aTa","COSV51581265",null,1,"IQGAP1","HGNC","HGNC:6110","protein_coding","YES","CCDS10362.1","ENSP00000268182","P46940.212","A0A024RC65.46","UPI000012D863",null,"NM_003870.4","NM_003870.4","P1",null,"deleterious(0)","probably_damaging(0.998)","35/38",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR14149:SF15;PANTHER:PTHR14149;Pfam:PF03836",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACAGACATACG","4131a852-570e-4d58-884d-50e1b8e2e500","c91c7f25-ca40-4bd0-b860-6967bfb47b57","82f9a197-040d-4c5e-89d9-d87a7aa0168d",null,"COSM4057896","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C1orf56",54964,"BI","GRCh38","chr1",151048707,151048707,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.864del","p.Phe289SerfsTer48","p.F289Sfs*48","ENST00000368926","2024-01-02",132,98,33,106,null,null,"C1orf56,frameshift_variant,p.F289Sfs*48,ENST00000368926,NM_017860.5,c.864del,HIGH,YES,,,1;BNIPL,downstream_gene_variant,,ENST00000295294,NM_001159642.2,,MODIFIER,,,,1;CDC42SE1,downstream_gene_variant,,ENST00000357235,NM_020239.4,,MODIFIER,,,,-1;BNIPL,downstream_gene_variant,,ENST00000361277,,,MODIFIER,,,,1;BNIPL,downstream_gene_variant,,ENST00000368931,NM_138278.4,,MODIFIER,YES,,,1;CDC42SE1,downstream_gene_variant,,ENST00000439374,,,MODIFIER,YES,,,-1;CDC42SE1,downstream_gene_variant,,ENST00000540998,NM_001038707.1,,MODIFIER,,,,-1;BNIPL,downstream_gene_variant,,ENST00000650563,,,MODIFIER,,,,1;C1orf56,non_coding_transcript_exon_variant,,ENST00000465135,,n.143del,MODIFIER,,,,1;C1orf56,non_coding_transcript_exon_variant,,ENST00000473308,,n.49del,MODIFIER,,,,1;BNIPL,downstream_gene_variant,,ENST00000491386,,,MODIFIER,,,,1;CDC42SE1,downstream_gene_variant,,ENST00000492796,,,MODIFIER,,,,-1;CDC42SE1,downstream_gene_variant,,ENST00000483763,,,MODIFIER,,,,-1;BNIPL,downstream_gene_variant,,ENST00000485855,,,MODIFIER,,,,1","-","ENSG00000143443","ENST00000368926","Transcript","frameshift_variant","frameshift_variant","957/2085","860/1026","287/341","T/X","aCc/ac",null,null,1,"C1orf56","HGNC","HGNC:26045","protein_coding","YES","CCDS980.1","ENSP00000357922","Q9BUN1.117",null,"UPI0000048EEB","Q9BUN1-1","NM_017860.5","NM_017860.5","P1",{"$nulls":3},"2024-01-02",null,"Low_complexity_(Seg):seg;PANTHER:PTHR16240;Pfam:PF15322",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"CCACTACCCCCT","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SLC5A6",8884,"BI","GRCh38","chr2",27201105,27201105,"+","Nonsense_Mutation","SNP","G","G","A","rs546600819",null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.1657C>T","p.Arg553Ter","p.R553*","ENST00000310574","16/17",20,13,7,29,null,null,"SLC5A6,stop_gained,p.R553*,ENST00000310574,NM_021095.4,c.1657C>T,HIGH,YES,,,-1;SLC5A6,stop_gained,p.R553*,ENST00000408041,,c.1657C>T,HIGH,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000412471,,,MODIFIER,,,,-1;SLC5A6,non_coding_transcript_exon_variant,,ENST00000461319,,n.595C>T,MODIFIER,,,,-1;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,,n.2343C>T,MODIFIER,,,,-1;SLC5A6,non_coding_transcript_exon_variant,,ENST00000461757,,n.1207C>T,MODIFIER,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000445802,,,MODIFIER,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000464538,,,MODIFIER,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000476319,,,MODIFIER,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000481751,,,MODIFIER,,,,-1;SLC5A6,downstream_gene_variant,,ENST00000492069,,,MODIFIER,,,,-1","A","ENSG00000138074","ENST00000310574","Transcript","stop_gained","stop_gained","2113/3213","1657/1908","553/635","R/*","Cga/Tga","rs546600819;COSV60159005",null,-1,"SLC5A6","HGNC","HGNC:11041","protein_coding","YES","CCDS1740.1","ENSP00000310208","Q9Y289.153",null,"UPI000006DE33",null,"NM_021095.4","NM_021095.4","P1",{"$nulls":3},"16/17",null,"Gene3D:1.20.1730.10;PANTHER:PTHR42985;PANTHER:PTHR42985:SF2",{"$nulls":8},"1.201e-05",0,0,0,0,0,"1.771e-05",0,"3.297e-05","3.297e-05","gnomAD_SAS","6.766360002075089e-06",0,0,0,0,0,0,0,"1.5439200069522485e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1",1,"GCCTCGCATTC","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,"COSM1019537","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HTR1B",3351,"BI","GRCh38","chr6",77463066,77463066,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.338G>A","p.Gly113Asp","p.G113D","ENST00000369947","2024-01-01",55,42,13,65,null,null,"HTR1B,missense_variant,p.G113D,ENST00000369947,NM_000863.3,c.338G>A,MODERATE,YES,tolerated(0.47),possibly_damaging(0.725),-1","T","ENSG00000135312","ENST00000369947","Transcript","missense_variant","missense_variant","426/2568","338/1173","113/390","G/D","gGc/gAc","COSV100885499;COSV64051427",null,-1,"HTR1B","HGNC","HGNC:5287","protein_coding","YES","CCDS4986.1","ENSP00000358963","P28222.185","X5D7I5.53","UPI00000007CB",null,"NM_000863.3","NM_000863.3","P1",null,"tolerated(0.47)","possibly_damaging(0.725)","2024-01-01",null,"Gene3D:1.20.1070.10;PDB-ENSP_mappings:4iaq.A;PDB-ENSP_mappings:4iar.A;PDB-ENSP_mappings:5v54.A;PDB-ENSP_mappings:5v54.B;PDB-ENSP_mappings:6g79.S;Pfam:PF00001;PROSITE_profiles:PS50262;PANTHER:PTHR24247;PANTHER:PTHR24247:SF16;SMART:SM01381;Superfamily:SSF81321;CDD:cd15333",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"1;1",null,"AGCGGCCGGTG","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KRT6B",3854,"BI","GRCh38","chr12",52451616,52451616,"+","Missense_Mutation","SNP","C","C","T","rs1701772",null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.463G>A","p.Ala155Thr","p.A155T","ENST00000252252","2024-01-09",117,100,17,184,null,null,"KRT6B,missense_variant,p.A155T,ENST00000252252,NM_005555.4,c.463G>A,MODERATE,YES,tolerated(0.85),benign(0.007),-1","T","ENSG00000185479","ENST00000252252","Transcript","missense_variant","missense_variant","531/2302","463/1695","155/564","A/T","Gcc/Acc","rs1701772;COSV99361039",null,-1,"KRT6B","HGNC","HGNC:6444","protein_coding","YES","CCDS8828.1","ENSP00000252252","P04259.193",null,"UPI000013CD50",null,"NM_005555.4","NM_005555.4","P1",null,"tolerated(0.85)","benign(0.007)","2024-01-09",null,"PANTHER:PTHR45616:SF47;PANTHER:PTHR45616;Pfam:PF16208",{"$nulls":8},"1.193e-05",0,0,0,0,0,"1.758e-05",0,"3.266e-05","3.266e-05","gnomAD_SAS","2.040459912677761e-05","2.4826200387906283e-05",0,0,0,0,0,0,"3.086520155193284e-05",0,0,"3.086520155193284e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GATGGCGGGGT","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR10H4",126541,"BI","GRCh38","chr19",15949168,15949168,"+","Missense_Mutation","SNP","A","A","G","rs761520896",null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.161A>G","p.His54Arg","p.H54R","ENST00000322107","2024-01-01",358,283,75,305,null,null,"OR10H4,missense_variant,p.H43R,ENST00000641275,,c.128A>G,MODERATE,,tolerated(1),benign(0.003),1;OR10H4,missense_variant,p.H54R,ENST00000322107,NM_001004465.1,c.161A>G,MODERATE,YES,tolerated(1),benign(0),1","G","ENSG00000176231","ENST00000322107","Transcript","missense_variant","missense_variant","161/951","161/951","54/316","H/R","cAc/cGc","rs761520896;COSV100437791",null,1,"OR10H4","HGNC","HGNC:15388","protein_coding","YES","CCDS32941.1","ENSP00000318834","Q8NGA5.137","A0A126GVV2.23","UPI0000046194",null,"NM_001004465.1","NM_001004465.1","P1",null,"tolerated(1)","benign(0)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF613;Superfamily:SSF81321;CDD:cd15225",{"$nulls":8},"3.977e-06",0,0,0,0,0,0,0,"3.266e-05","3.266e-05","gnomAD_SAS","6.761510121577885e-06",0,0,0,0,0,0,0,0,0,2.08680998184718E-4,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"TGAACACAGAC","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAX1",5075,"BI","GRCh38","chr20",21706972,21706972,"+","Missense_Mutation","SNP","C","C","T","rs780254769",null,"TCGA-VQ-A8PB","TCGA-VQ-A8PB-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"368e7be5-d3b4-434f-aa9b-e08e87087e0b","9482865a-473c-4c81-8b94-481daab88e55","c.821C>T","p.Pro274Leu","p.P274L","ENST00000398485","2024-02-05",34,27,7,39,null,null,"PAX1,missense_variant,p.P274L,ENST00000613128,NM_001257096.1,c.821C>T,MODERATE,,deleterious(0.04),benign(0.013),1;PAX1,missense_variant,p.P274L,ENST00000398485,NM_006192.5,c.821C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.75),1;PAX1,missense_variant,p.P250L,ENST00000444366,,c.749C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.551),1;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,,n.148C>T,MODIFIER,,,,1;PAX1,upstream_gene_variant,,ENST00000485038,,,MODIFIER,,,,1;LINC01726,upstream_gene_variant,,ENST00000624692,,,MODIFIER,YES,,,-1","T","ENSG00000125813","ENST00000398485","Transcript","missense_variant","missense_variant","875/2838","821/1605","274/534","P/L","cCg/cTg","rs780254769;COSV68271710",null,1,"PAX1","HGNC","HGNC:8615","protein_coding","YES","CCDS13146.2","ENSP00000381499","P15863.181",null,"UPI000179A786","P15863-1","NM_006192.5",null,"A2",null,"deleterious(0.03)","possibly_damaging(0.75)","2024-02-05",null,"PANTHER:PTHR45636;PANTHER:PTHR45636:SF15",{"$nulls":8},"4.077e-06",0,0,0,0,0,"9.091e-06",0,0,"9.091e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"GGTCCCGGGCA","fc6a4410-c829-4273-8619-5983a64c2496","f931aec5-1d19-4c53-8ce7-31e33822b565","02661985-d13f-4007-9a42-5e08d1a6ca10",null,"COSM5733448;COSM5733449","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF646",9726,"BI","GRCh38","chr16",31081068,31081068,"+","Missense_Mutation","SNP","G","G","A","rs746511789",null,"TCGA-VQ-A8DT","TCGA-VQ-A8DT-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"0614ac93-e0d6-4f2f-8635-db173e6e9862","b13b2c7f-f980-4c53-b76d-c8dc4ee86321","c.4744G>A","p.Ala1582Thr","p.A1582T","ENST00000394979","2024-01-01",96,80,16,80,null,null,"ZNF646,missense_variant,p.A1582T,ENST00000394979,,c.4744G>A,MODERATE,,tolerated(0.3),benign(0.005),1;ZNF646,missense_variant,p.A1582T,ENST00000300850,NM_014699.4,c.4744G>A,MODERATE,YES,tolerated(0.28),benign(0.011),1;PRSS53,downstream_gene_variant,,ENST00000280606,NM_001039503.2,,MODIFIER,YES,,,-1;ZNF646,downstream_gene_variant,,ENST00000428260,,,MODIFIER,,,,1;ZNF646,downstream_gene_variant,,ENST00000564189,,,MODIFIER,,,,1;PRSS53,downstream_gene_variant,,ENST00000486499,,,MODIFIER,,,,-1;PRSS53,downstream_gene_variant,,ENST00000492427,,,MODIFIER,,,,-1;AC135050.2,downstream_gene_variant,,ENST00000533518,,,MODIFIER,,,,-1","A","ENSG00000167395","ENST00000394979","Transcript","missense_variant","missense_variant","5167/8118","4744/5490","1582/1829","A/T","Gcc/Acc","rs746511789;COSV54925166",null,1,"ZNF646","HGNC","HGNC:29004","protein_coding",null,null,"ENSP00000378429","O15015.175",null,"UPI00001395B0","O15015-1",null,null,"A2",null,"tolerated(0.3)","benign(0.005)","2024-01-01",null,"Gene3D:3.30.160.60;PANTHER:PTHR24403;PANTHER:PTHR24403:SF56;Superfamily:SSF57667",{"$nulls":8},"3.979e-06",0,"2.892e-05",0,0,0,0,0,0,"2.892e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"TAGACGCCCAG","f0c748a8-6d06-4b07-8c6d-ebc69baeb398","5b9a041e-019f-4e3a-b5e4-b29668730133","8027adc9-4918-45f0-a7da-5767da0b999e",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMO",6608,"BI","GRCh38","chr7",129206266,129206266,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-HF-7134","TCGA-HF-7134-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"0d419022-920a-482f-833a-3a3b1ef8070f","091f2979-4e0c-4223-aa29-20bd586113ac","c.1037T>G","p.Leu346Arg","p.L346R","ENST00000249373","2024-05-12",223,168,55,193,null,null,"SMO,missense_variant,p.L346R,ENST00000249373,NM_005631.5,c.1037T>G,MODERATE,YES,deleterious(0),probably_damaging(0.981),1;SMO,missense_variant,p.L40R,ENST00000462420,,c.119T>G,MODERATE,,deleterious(0.04),probably_damaging(0.997),1;SMO,3_prime_UTR_variant,,ENST00000655644,,c.*901T>G,MODIFIER,,,,1;SMO,upstream_gene_variant,,ENST00000475779,,,MODIFIER,,,,1;SMO,upstream_gene_variant,,ENST00000495998,,,MODIFIER,,,,1;AC011005.4,downstream_gene_variant,,ENST00000466717,,,MODIFIER,YES,,,-1","G","ENSG00000128602","ENST00000249373","Transcript","missense_variant","missense_variant","1556/3977","1037/2364","346/787","L/R","cTg/cGg","COSV99976088",null,1,"SMO","HGNC","HGNC:11119","protein_coding","YES","CCDS5811.1","ENSP00000249373","Q99835.198",null,"UPI0000050447",null,"NM_005631.5","NM_005631.5","P1",null,"deleterious(0)","probably_damaging(0.981)","2024-05-12",null,"PDB-ENSP_mappings:4jkv.A;PDB-ENSP_mappings:4jkv.B;PDB-ENSP_mappings:4n4w.A;PDB-ENSP_mappings:4o9r.A;PDB-ENSP_mappings:4qim.A;PDB-ENSP_mappings:4qin.A;PDB-ENSP_mappings:5l7d.A;PDB-ENSP_mappings:5l7d.B;PDB-ENSP_mappings:5l7i.A;PDB-ENSP_mappings:5l7i.B;PDB-ENSP_mappings:5v56.A;PDB-ENSP_mappings:5v56.B;PDB-ENSP_mappings:5v57.A;PDB-ENSP_mappings:5v57.B;PDB-ENSP_mappings:6ot0.R;PROSITE_profiles:PS50261;CDD:cd15030;PANTHER:PTHR11309;PANTHER:PTHR11309:SF35;Pfam:PF01534;Gene3D:1.20.1070.10;SMART:SM01330",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGCCCTGGGCA","5d0762a0-d8e0-4444-a2f1-0fa30e03bb24","cf6ca167-5192-465e-914b-f62f3542b45e","1dbe1e26-3bcd-45cf-990e-ad7c8754f4d4",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KLHL21",9903,"BI","GRCh38","chr1",6593505,6593507,"+","In_Frame_Del","DEL","AGA","AGA","-","rs1477349346",null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.1652_1654del","p.Phe551del","p.F551del","ENST00000377658","2024-04-04",76,55,21,87,null,null,"KLHL21,inframe_deletion,p.F551del,ENST00000377658,NM_014851.4,c.1652_1654del,MODERATE,YES,,,-1;KLHL21,inframe_deletion,p.F184del,ENST00000467612,,c.551_553del,MODERATE,,,,-1;KLHL21,inframe_deletion,p.F184del,ENST00000496707,,c.551_553del,MODERATE,,,,-1;KLHL21,3_prime_UTR_variant,,ENST00000377663,,c.*1858_*1860del,MODIFIER,,,,-1;KLHL21,5_prime_UTR_variant,,ENST00000610898,,c.-35_-33del,MODIFIER,,,,-1;ZBTB48,downstream_gene_variant,,ENST00000377674,NM_005341.4&NM_001278648.2&NM_001278647.2,,MODIFIER,YES,,,1;KLHL21,downstream_gene_variant,,ENST00000463043,NM_001324309.2,,MODIFIER,,,,-1;ZBTB48,downstream_gene_variant,,ENST00000466813,,,MODIFIER,,,,1;ZBTB48,downstream_gene_variant,,ENST00000466941,,,MODIFIER,,,,1;ZBTB48,downstream_gene_variant,,ENST00000482360,,,MODIFIER,,,,1;ZBTB48,downstream_gene_variant,,ENST00000498342,,,MODIFIER,,,,1","-","ENSG00000162413","ENST00000377658","Transcript","inframe_deletion","inframe_deletion","1704-1706/4487","1652-1654/1794","551-552/597","FW/W","tTCTgg/tgg","rs1477349346",null,-1,"KLHL21","HGNC","HGNC:29041","protein_coding","YES","CCDS30575.1","ENSP00000366886","Q9UJP4.163",null,"UPI0000070D85","Q9UJP4-1","NM_014851.4","NM_014851.4","P1",{"$nulls":3},"2024-04-04",null,"Gene3D:2.120.10.80;PIRSF:PIRSF037037;PANTHER:PTHR24412;PANTHER:PTHR24412:SF255;SMART:SM00612;Superfamily:SSF117281",{"$nulls":8},"3.984e-06",0,0,0,0,0,"8.818e-06",0,0,"8.818e-06","gnomAD_NFE",{"$nulls":22},"MODERATE",1,"deletion",1,{"$nulls":3},"CATGCCAGAAGGTG","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SPHKAP",80309,"BI","GRCh38","chr2",228019079,228019079,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.1775C>A","p.Ala592Glu","p.A592E","ENST00000392056","2024-07-12",98,66,32,91,null,null,"SPHKAP,missense_variant,p.A592E,ENST00000392056,NM_001142644.2,c.1775C>A,MODERATE,YES,deleterious(0.03),benign(0.005),-1;SPHKAP,missense_variant,p.A592E,ENST00000344657,NM_030623.3,c.1775C>A,MODERATE,,deleterious(0.03),benign(0.066),-1","T","ENSG00000153820","ENST00000392056","Transcript","missense_variant","missense_variant","1864/6954","1775/5103","592/1700","A/E","gCa/gAa","COSV60869857",null,-1,"SPHKAP","HGNC","HGNC:30619","protein_coding","YES","CCDS46537.1","ENSP00000375909","Q2M3C7.118",null,"UPI0000411D7E","Q2M3C7-1","NM_001142644.2","NM_001142644.2","P4",null,"deleterious(0.03)","benign(0.005)","2024-07-12",null,"PANTHER:PTHR10226;PANTHER:PTHR10226:SF7;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGCTGCAGGC","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM4092150;COSM4092151","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VEPH1",79674,"BI","GRCh38","chr3",157363438,157363438,"+","Frame_Shift_Del","DEL","T","T","-","rs756863093",null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.1661del","p.Asn554ThrfsTer5","p.N554Tfs*5","ENST00000362010","2024-09-14",122,100,20,170,null,null,"VEPH1,frameshift_variant,p.N554Tfs*5,ENST00000362010,NM_001167912.2,c.1661del,HIGH,YES,,,-1;VEPH1,frameshift_variant,p.N554Tfs*5,ENST00000392833,NM_001167911.2,c.1661del,HIGH,,,,-1;VEPH1,frameshift_variant,p.N554Tfs*5,ENST00000392832,NM_024621.2,c.1661del,HIGH,,,,-1;VEPH1,downstream_gene_variant,,ENST00000488772,,,MODIFIER,,,,-1;VEPH1,non_coding_transcript_exon_variant,,ENST00000472419,,n.503del,MODIFIER,,,,-1;AC092944.1,intron_variant,,ENST00000487238,,n.332-17668del,MODIFIER,,,,1","-","ENSG00000197415","ENST00000362010","Transcript","frameshift_variant","frameshift_variant","1958/4191","1661/2502","554/833","N/X","aAc/ac","rs756863093",null,-1,"VEPH1","HGNC","HGNC:25735","protein_coding","YES","CCDS3179.1","ENSP00000354919","Q14D04.121",null,"UPI000013F6EE","Q14D04-1","NM_001167912.2","NM_001167912.2","P4",{"$nulls":3},"2024-09-14",null,"PANTHER:PTHR21630;Superfamily:SSF50729",{"$nulls":6},0.0004688,3.635E-4,"7.486e-05",0,"9.238e-05",1.052E-4,0.0001134,0,"4.571e-05",0.0003438,0.0001735,0.0004688,"AA","3.404829840292223e-05","7.356190326390788e-05",0,"6.689860310871154e-05",0,2.02675000764429E-4,0,0,0,0,0,"7.356190326390788e-05","afr",{"$nulls":9},"HIGH",1,"deletion",1,{"$nulls":3},"CTGAGGTTTTTT","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM1420249","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["FBXO30",84085,"BI","GRCh38","chr6",145805991,145805991,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.415G>A","p.Ala139Thr","p.A139T","ENST00000237281","2024-02-03",105,74,31,171,null,null,"FBXO30,missense_variant,p.A139T,ENST00000237281,NM_001348092.2&NM_032145.5,c.415G>A,MODERATE,YES,tolerated(0.36),benign(0.062),-1;FBXO30-DT,intron_variant,,ENST00000629681,,n.91-3787C>T,MODIFIER,,,,1","T","ENSG00000118496","ENST00000237281","Transcript","missense_variant","missense_variant","624/9051","415/2238","139/745","A/T","Gcc/Acc","COSV52790313",null,-1,"FBXO30","HGNC","HGNC:15600","protein_coding","YES","CCDS5208.1","ENSP00000237281","Q8TB52.157",null,"UPI0000071E84",null,"NM_001348092.2;NM_032145.5","NM_032145.5","P1",null,"tolerated(0.36)","benign(0.062)","2024-02-03",null,"PANTHER:PTHR15933;PANTHER:PTHR15933:SF13",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGTGGCTACTT","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM3858831","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NXPE4",54827,"BI","GRCh38","chr11",114571048,114571048,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.1525A>G","p.Ser509Gly","p.S509G","ENST00000375478","2024-06-06",85,54,31,128,null,null,"NXPE4,missense_variant,p.S509G,ENST00000375478,NM_001077639.2,c.1525A>G,MODERATE,YES,tolerated(1),benign(0.001),-1;NXPE4,missense_variant,p.S225G,ENST00000424261,NM_017678.3,c.673A>G,MODERATE,,tolerated(1),benign(0.001),-1","C","ENSG00000137634","ENST00000375478","Transcript","missense_variant","missense_variant","1730/2187","1525/1635","509/544","S/G","Agt/Ggt","COSV64943443",null,-1,"NXPE4","HGNC","HGNC:23117","protein_coding","YES","CCDS41718.1","ENSP00000364627","Q6UWF7.128",null,"UPI00000477F3","Q6UWF7-1","NM_001077639.2","NM_001077639.2","P1",null,"tolerated(1)","benign(0.001)","2024-06-06",null,"PANTHER:PTHR16165:SF24;PANTHER:PTHR16165",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GATACTCACAC","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM4018018","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VPS13C",54832,"BI","GRCh38","chr15",61890310,61890310,"+","Missense_Mutation","SNP","C","C","T","rs775795504",null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.9196G>A","p.Asp3066Asn","p.D3066N","ENST00000644861","67/85",50,36,14,81,null,null,"VPS13C,missense_variant,p.D3066N,ENST00000645819,NM_001018088.2,c.9196G>A,MODERATE,,deleterious(0),possibly_damaging(0.723),-1;VPS13C,missense_variant,p.D3066N,ENST00000644861,NM_020821.3,c.9196G>A,MODERATE,YES,deleterious(0),benign(0.349),-1;VPS13C,missense_variant,p.D3023N,ENST00000249837,NM_017684.5,c.9067G>A,MODERATE,,deleterious(0),possibly_damaging(0.631),-1;VPS13C,missense_variant,p.D3023N,ENST00000395898,NM_018080.3,c.9067G>A,MODERATE,,deleterious(0),possibly_damaging(0.448),-1;VPS13C,missense_variant,p.D603N,ENST00000649766,,c.1807G>A,MODERATE,,deleterious(0),possibly_damaging(0.481),-1;VPS13C,3_prime_UTR_variant,,ENST00000650094,,c.*3405G>A,MODIFIER,,,,-1;AC009554.1,intron_variant,,ENST00000642740,,n.316+10817C>T,MODIFIER,YES,,,1;AC009554.2,intron_variant,,ENST00000650148,,n.518-524C>T,MODIFIER,YES,,,1","T","ENSG00000129003","ENST00000644861","Transcript","missense_variant","missense_variant","9269/13403","9196/11262","3066/3753","D/N","Gat/Aat","rs775795504;COSV51124321",null,-1,"VPS13C","HGNC","HGNC:23594","protein_coding","YES","CCDS32257.1","ENSP00000493560","Q709C8.130",null,"UPI000023B7D3","Q709C8-1","NM_020821.3","NM_020821.3","A2",null,"deleterious(0)","benign(0.349)","67/85",null,"PANTHER:PTHR16166;PANTHER:PTHR16166:SF69",{"$nulls":8},"7.957e-06",0,0,0,0,0,"1.759e-05",0,0,"1.759e-05","gnomAD_NFE","2.029390088864602e-05",0,0,0,0,0,0,0,"4.6300599933601916e-05",0,0,"4.6300599933601916e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",1,"ATCATCGGTGA","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM4056013;COSM4056014","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO9B",4650,"BI","GRCh38","chr19",17202205,17202205,"+","Missense_Mutation","SNP","C","C","T","rs767106410",null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.4738C>T","p.Arg1580Cys","p.R1580C","ENST00000594824","28/40",46,33,13,34,null,null,"MYO9B,missense_variant,p.R1580C,ENST00000595618,NM_001130065.2,c.4738C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.794),1;MYO9B,missense_variant,p.R1580C,ENST00000594824,NM_004145.4,c.4738C>T,MODERATE,YES,deleterious(0.01),benign(0.031),1;MYO9B,missense_variant,p.R1580C,ENST00000397274,,c.4738C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.794),1;MYO9B,missense_variant,p.R1580C,ENST00000595641,,c.4738C>T,MODERATE,,deleterious(0.01),benign(0.094),1;MYO9B,upstream_gene_variant,,ENST00000596942,,,MODIFIER,,,,1;MYO9B,upstream_gene_variant,,ENST00000597073,,,MODIFIER,,,,1;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,,n.691C>T,MODIFIER,,,,1;MYO9B,non_coding_transcript_exon_variant,,ENST00000599420,,n.77C>T,MODIFIER,,,,1;MYO9B,upstream_gene_variant,,ENST00000602158,,,MODIFIER,,,,1;AC020913.2,downstream_gene_variant,,ENST00000601929,,,MODIFIER,YES,,,-1","T","ENSG00000099331","ENST00000594824","Transcript","missense_variant","missense_variant","4885/7595","4738/6474","1580/2157","R/C","Cgt/Tgt","rs767106410;COSV68277276",null,1,"MYO9B","HGNC","HGNC:7609","protein_coding","YES",null,"ENSP00000471367",null,"M0R0P8.69","UPI0002A47676",null,"NM_004145.4",null,"P3",null,"deleterious(0.01)","benign(0.031)","28/40",null,"PANTHER:PTHR46184:SF2;PANTHER:PTHR46184",{"$nulls":8},"2.427e-05",1.339E-4,"2.922e-05",0,0,0,"2.671e-05",0,0,1.339E-4,"gnomAD_AFR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"CTGAGCGTGGC","f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,"COSM3285575;COSM3285576","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MOV10L1",54456,"BI","GRCh38","chr22",50153102,50153102,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4H8","TCGA-HU-A4H8-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7e6d3704-3182-409f-8aa5-b5956ec79a80","a926e4a4-f9e1-4732-a285-d82ea4c33f4d","c.2950C>T",null,null,"ENST00000262794","22/27",150,96,54,159,{"$nulls":3},"T","ENSG00000073146","ENST00000262794","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/W","Cgg/Tgg",null,null,1,"MOV10L1","HGNC","HGNC:7201","protein_coding","YES","CCDS14084.1","ENSP00000262794","Q9BXT6.154",null,"UPI00000421FB","Q9BXT6-1","NM_018995.3","NM_018995.3","P4",null,"deleterious(0)","possibly_damaging(0.809)","22/27",null,"CDD:cd18808;PANTHER:PTHR45418:SF1;PANTHER:PTHR45418;Pfam:PF13087;Gene3D:3.40.50.300;Superfamily:SSF52540",{"$nulls":6},0,0.0001163,"3.98e-05",0,0.0001446,0,0,0,"4.402e-05",0,0,0.0001446,"gnomAD_AMR","7.4345400207676e-05","2.4304899852722883e-05",0,0,0,0,0,0,0.000154310997459106,0,0,0.000154310997459106,"nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":4},"f6f0aa19-db39-45c7-8612-132ef239f67d","b002f169-a72f-4cc3-a60c-72cc71a85183","98760b3e-3075-4444-9a01-8f11935069d4",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNTTIP2",30836,"BI","GRCh38","chr1",93869905,93869905,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000436063","2024-07-07",28,16,12,54,{"$nulls":3},"-","ENSG00000067334","ENST00000436063","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"K/X","aaA/aa",null,null,-1,"DNTTIP2","HGNC","HGNC:24013","protein_coding","YES","CCDS44174.1","ENSP00000411010","Q5QJE6.125",null,"UPI000006F063",null,"NM_014597.5","NM_014597.5","P1",{"$nulls":3},"2024-07-07",{"$nulls":43},"HIGH",1,"deletion",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["IWS1",55677,"BI","GRCh38","chr2",127481100,127481100,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.2404del","p.Ser802AlafsTer7","p.S802Afs*7","ENST00000295321","14/14",100,69,31,108,null,null,"IWS1,frameshift_variant,p.S802Afs*7,ENST00000295321,NM_017969.3,c.2404del,HIGH,YES,,,-1;IWS1,3_prime_UTR_variant,,ENST00000637187,,c.*107del,MODIFIER,,,,-1;IWS1,intron_variant,,ENST00000412979,,c.66+5453del,MODIFIER,,,,-1;AC010976.1,intron_variant,,ENST00000454503,,n.386-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000595561,,n.255-1775del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000596439,,n.533-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000598065,,n.255-5314del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000599001,,n.255-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000625508,,n.133-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000625610,,n.134-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000625623,,n.239-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000625659,,n.138-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000626032,,n.130-6879del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000626387,,n.138-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000626634,,n.479-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000626901,,n.138-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000627205,,n.138-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000627259,,n.255-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000628112,,n.578-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000628499,,n.213-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000628607,,n.237-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000628885,,n.347-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000629005,,n.752-1722del,MODIFIER,YES,,,1;AC010976.1,intron_variant,,ENST00000629356,,n.138-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000629464,,n.138-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000629695,,n.859-8426del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000629928,,n.354-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000630740,,n.426-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000630924,,n.344-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000631042,,n.135-1722del,MODIFIER,,,,1;AC010976.1,intron_variant,,ENST00000631170,,n.578-1722del,MODIFIER,,,,1;AC010976.1,upstream_gene_variant,,ENST00000619302,,,MODIFIER,,,,1","-","ENSG00000163166","ENST00000295321","Transcript","frameshift_variant","frameshift_variant","2685/2973","2404/2460","802/819","S/X","Agc/gc",null,null,-1,"IWS1","HGNC","HGNC:25467","protein_coding","YES","CCDS2146.1","ENSP00000295321","Q96ST2.151",null,"UPI000006EA82","Q96ST2-1","NM_017969.3","NM_017969.3","P1",{"$nulls":3},"14/14",null,"PANTHER:PTHR46010",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"ATCTGCTTTTTT",{"$nulls":4},"COSM1399231","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["XIRP1",165904,"BI","GRCh38","chr3",39184242,39184242,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000340369","2024-02-02",94,86,8,154,{"$nulls":3},"T","ENSG00000168334","ENST00000340369","Transcript","missense_variant","missense_variant",{"$nulls":3},"P/H","cCt/cAt",null,null,-1,"XIRP1","HGNC","HGNC:14301","protein_coding","YES","CCDS2683.1","ENSP00000343140","Q702N8.118",null,"UPI00001BFB06","Q702N8-1","NM_194293.4","NM_194293.4","P3",null,"deleterious(0.02)","benign(0.431)","2024-02-02",null,"PANTHER:PTHR22591;PANTHER:PTHR22591:SF2;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["AMACR",23600,"BI","GRCh38","chr5",34005795,34005795,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.352C>T","p.Arg118Trp","p.R118W","ENST00000335606","2024-02-05",58,35,23,67,{"$nulls":3},"A","ENSG00000242110","ENST00000335606","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/W","Cgg/Tgg",null,null,-1,"AMACR","HGNC","HGNC:451","protein_coding",null,"CCDS3902.1","ENSP00000334424","Q9UHK6.174",null,"UPI00001AE675","Q9UHK6-1","NM_014324.6","NM_014324.6",null,null,"deleterious(0.01)","possibly_damaging(0.849)","2024-02-05",null,"Gene3D:3.40.50.10540;Pfam:PF02515;Superfamily:SSF89796",{"$nulls":8},"2.785e-05",0,"2.892e-05",0,0,0,"1.759e-05",0,0.0001307,0.0001307,"gnomAD_SAS","6.767820195818786e-06",0,0,0,0,0,0,0,"1.5435000022989698e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRIM26",7726,"BI","GRCh38","chr6",30186336,30186336,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.1160A>G",null,null,"ENST00000454678","2024-10-10",68,38,30,85,{"$nulls":3},"C","ENSG00000234127","ENST00000454678","Transcript","missense_variant","missense_variant",null,"1160/1620","387/539","D/G","gAt/gGt",null,null,-1,"TRIM26","HGNC","HGNC:12962","protein_coding","YES","CCDS4678.1","ENSP00000410446","Q12899.189","A0A024RCP3.56","UPI0000001C20",null,"NM_003449.5","NM_003449.5","P1",null,"tolerated_low_confidence(0.36)","benign(0)","2024-10-10",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DST",667,"BI","GRCh38","chr6",56466170,56466170,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000361203",null,21,14,7,30,{"$nulls":3},"G","ENSG00000151914","ENST00000361203","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/P","cTg/cCg",null,null,-1,"DST","HGNC","HGNC:1090","protein_coding","YES",null,"ENSP00000354508",null,"F8W9J4.75","UPI0001E8F797",null,"NM_001374722.1;NM_001374736.1;NM_001374734.1;NM_001374729.1",{"$nulls":3},"deleterious(0)","probably_damaging(1)",{"$nulls":11},"4.122e-06",0,0,0,0,"4.674e-05",0,0,0,"4.674e-05","gnomAD_FIN",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CPNE3",8895,"BI","GRCh38","chr8",86556291,86556291,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.1444G>A","p.Ala482Thr","p.A482T","ENST00000517490","16/17",54,43,11,83,{"$nulls":3},"A","ENSG00000085719","ENST00000517490","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gcc/Acc",null,null,1,"CPNE3","HGNC","HGNC:2316","protein_coding","YES","CCDS6243.1","ENSP00000477590","O75131.172","A0A024R994.53","UPI0000127C13",null,"NM_003909.5","NM_003909.5","P1",null,"deleterious(0)","possibly_damaging(0.792)","16/17",{"$nulls":10},"3.977e-06",0,0,0,"5.438e-05",0,0,0,0,"5.438e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACTL7A",10881,"BI","GRCh38","chr9",108863257,108863257,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.935G>A",null,null,"ENST00000333999","2024-01-01",96,59,37,108,{"$nulls":3},"A","ENSG00000187003","ENST00000333999","Transcript","missense_variant","missense_variant",null,"935/1308","312/435","C/Y","tGc/tAc",null,null,1,"ACTL7A","HGNC","HGNC:161","protein_coding","YES","CCDS6772.1","ENSP00000334300","Q9Y615.146","A0A140VK03.19","UPI0000125052",null,"NM_006687.4","NM_006687.4","P1",null,"deleterious(0.02)","benign(0.001)","2024-01-01",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PSAP",5660,"BI","GRCh38","chr10",71828145,71828145,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.589G>A","p.Val197Ile","p.V197I","ENST00000394936","2024-06-14",102,67,35,167,{"$nulls":3},"T","ENSG00000197746","ENST00000394936","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/I","Gtt/Att",null,null,-1,"PSAP","HGNC","HGNC:9498","protein_coding",null,"CCDS7311.1","ENSP00000378394","P07602.240","A0A024QZQ2.44","UPI0000000DBF","P07602-1","NM_002778.4;NM_001042466.3;NM_001042465.3","NM_002778.4","P3",null,"tolerated(0.12)","benign(0.406)","2024-06-14",null,null,0.0002,0.0008,0,0,0,0,null,null,"2.386e-05",0.000123,0,0,"5.437e-05",0,"1.758e-05",1.629E-4,0,0.0008,"AFR","4.0570699638919905e-05","7.298559648916125e-05",0,0,3.02847009152174E-4,0,0,0.00328946998342871,"1.543160033179447e-05",0,0,"7.298559648916125e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPRYD3",84926,"BI","GRCh38","chr12",53068271,53068271,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.727G>A","p.Val243Met","p.V243M","ENST00000301463","2024-07-11",182,112,70,223,{"$nulls":3},"T","ENSG00000167778","ENST00000301463","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/M","Gtg/Atg",null,null,-1,"SPRYD3","HGNC","HGNC:25920","protein_coding",null,"CCDS8845.1","ENSP00000301463","Q8NCJ5.125","A0A024RAX4.33","UPI0000038D00",null,"NM_032840.3","NM_032840.3","P1",null,"tolerated(0.54)","benign(0.003)","2024-07-11",{"$nulls":10},"3.979e-06",0,"2.893e-05",0,0,0,0,0,0,"2.893e-05","gnomAD_AMR","6.7570299506769516e-06",0,0,0,0,0,0,0,0,0,2.08159995963796E-4,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPLP0",6175,"BI","GRCh38","chr12",120197381,120197381,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.733T>C",null,null,"ENST00000228306","2024-07-08",50,29,21,78,{"$nulls":3},"G","ENSG00000089157","ENST00000228306","Transcript","missense_variant","missense_variant",{"$nulls":3},"Y/H","Tac/Cac",null,null,-1,"RPLP0","HGNC","HGNC:10371","protein_coding",null,"CCDS9193.1","ENSP00000339027","P05388.222","A0A024RBS2.51","UPI0000134221","P05388-1","NM_053275.3",null,"P1",null,"deleterious(0)","probably_damaging(0.95)","2024-07-08",null,"PDB-ENSP_mappings:4v6x.Cq;PDB-ENSP_mappings:5aj0.AK;PANTHER:PTHR45699:SF1;PANTHER:PTHR45699;PIRSF:PIRSF039087;Pfam:PF00428",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DRC7",84229,"BI","GRCh38","chr16",57722806,57722806,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000360716","2024-11-19",105,68,37,104,{"$nulls":3},"G","ENSG00000159625","ENST00000360716","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/R","cTt/cGt",null,null,1,"DRC7","HGNC","HGNC:25289","protein_coding","YES","CCDS10787.1","ENSP00000353942","Q8IY82.126",null,"UPI00001AEB68","Q8IY82-1","NM_001289162.2","NM_001289162.2","P2",null,"deleterious(0)","probably_damaging(0.991)","2024-11-19",null,"PANTHER:PTHR35249",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FXR2",9513,"BI","GRCh38","chr17",7592804,7592804,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.1619del","p.Pro540GlnfsTer32","p.P540Qfs*32","ENST00000250113","14/17",63,34,28,60,null,null,"FXR2,frameshift_variant,p.P540Qfs*32,ENST00000250113,NM_004860.4,c.1619del,HIGH,YES,,,-1;SOX15,upstream_gene_variant,,ENST00000250055,NM_006942.2,,MODIFIER,YES,,,-1;MPDU1,downstream_gene_variant,,ENST00000250124,NM_004870.4,,MODIFIER,YES,,,1;MPDU1,downstream_gene_variant,,ENST00000396501,NM_001330073.1,,MODIFIER,,,,1;MPDU1,downstream_gene_variant,,ENST00000423172,,,MODIFIER,,,,1;SOX15,upstream_gene_variant,,ENST00000538513,,,MODIFIER,,,,-1;SOX15,upstream_gene_variant,,ENST00000570788,,,MODIFIER,,,,-1;MPDU1,downstream_gene_variant,,ENST00000584378,,,MODIFIER,,,,1;MPDU1,downstream_gene_variant,,ENST00000585217,,,MODIFIER,,,,1;FXR2,upstream_gene_variant,,ENST00000573057,,,MODIFIER,,,,-1;FXR2,downstream_gene_variant,,ENST00000571079,,,MODIFIER,,,,-1;MPDU1,downstream_gene_variant,,ENST00000571877,,,MODIFIER,,,,1;MPDU1,downstream_gene_variant,,ENST00000572836,,,MODIFIER,,,,1;FXR2,downstream_gene_variant,,ENST00000573957,,,MODIFIER,,,,-1;FXR2,downstream_gene_variant,,ENST00000574490,,,MODIFIER,,,,-1;MPDU1,downstream_gene_variant,,ENST00000574558,,,MODIFIER,,,,1;MPDU1,downstream_gene_variant,,ENST00000577088,,,MODIFIER,,,,1","-","ENSG00000129245","ENST00000250113","Transcript","frameshift_variant","frameshift_variant","1984/2987","1619/2022","540/673","P/X","cCa/ca",null,null,-1,"FXR2","HGNC","HGNC:4024","protein_coding","YES","CCDS45604.1","ENSP00000250113","P51116.184",null,"UPI0000072727",null,"NM_004860.4","NM_004860.4","P1",{"$nulls":3},"14/17",null,"Pfam:PF16096;PANTHER:PTHR10603;PANTHER:PTHR10603:SF3;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"CTTGCTGGGGGG",{"$nulls":4},"COSM296482","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["CEP76",79959,"BI","GRCh38","chr18",12699830,12699830,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.295del",null,null,"ENST00000262127","2024-03-12",12,8,4,10,{"$nulls":3},"-","ENSG00000101624","ENST00000262127","Transcript","frameshift_variant","frameshift_variant;splice_region_variant",{"$nulls":3},"T/X","Act/ct",null,null,-1,"CEP76","HGNC","HGNC:25727","protein_coding","YES","CCDS11861.1","ENSP00000262127","Q8TAP6.146",null,"UPI00000715E7","Q8TAP6-1","NM_024899.4","NM_024899.4","P1",{"$nulls":3},"2024-03-12",null,"PANTHER:PTHR46436",{"$nulls":8},0.0002838,0.0001822,0.000448,3.611E-4,2.966E-4,0.0001565,0.0002345,0,4.707E-4,4.707E-4,"gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,{"$nulls":3},"ACATACTTTTTT",{"$nulls":5},"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["LRRN4",164312,"BI","GRCh38","chr20",6041138,6041138,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.2107G>A","p.Ala703Thr","p.A703T","ENST00000378858","2024-05-05",20,13,7,39,{"$nulls":3},"T","ENSG00000125872","ENST00000378858","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gca/Aca",null,null,-1,"LRRN4","HGNC","HGNC:16208","protein_coding","YES","CCDS13097.1","ENSP00000368135","Q8WUT4.163",null,"UPI000013CBD3",null,"NM_152611.5","NM_152611.5","P1",null,"tolerated(0.13)","benign(0.005)","2024-05-05",{"$nulls":11},0,"2.991e-05",0,0,0,0,0,0,"2.991e-05","gnomAD_AMR","6.7570299506769516e-06","2.430019958410412e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NLGN3",54413,"BI","GRCh38","chrX",71169745,71169745,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8487",{"$nulls":9},"Somatic",{"$nulls":8},"c.2195G>A","p.Arg732His","p.R732H","ENST00000358741","2024-08-08",47,32,15,64,{"$nulls":3},"A","ENSG00000196338","ENST00000358741","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGt/cAt",null,null,1,"NLGN3","HGNC","HGNC:14289","protein_coding","YES","CCDS55441.1","ENSP00000351591","Q9NZ94.177","X5DNV3.40","UPI000006FCBB","Q9NZ94-1","NM_181303.2","NM_181303.2","P1",null,"tolerated(0.14)","benign(0.185)","2024-08-08",{"$nulls":10},"1.103e-05",0,0,0,0.0001446,0,0,0,0,0.0001446,"gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCN9A",6335,"BI","GRCh38","chr2",166198873,166198873,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-VQ-A8PX",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000303354","27/27",52,37,15,41,{"$nulls":3},"G","ENSG00000169432","ENST00000303354","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/S","agA/agC",null,null,-1,"SCN9A","HGNC","HGNC:10597","protein_coding",null,null,"ENSP00000304748","Q15858.189",null,"UPI0001881757","Q15858-1",null,null,"A2",null,"tolerated(0.67)","benign(0)","27/27",null,"PDB-ENSP_mappings:6j8g.A;PDB-ENSP_mappings:6j8h.A;PDB-ENSP_mappings:6j8i.A;PDB-ENSP_mappings:6j8j.A;PANTHER:PTHR10037;PANTHER:PTHR10037:SF221",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PSD2",84249,"BI","GRCh38","chr5",139809684,139809685,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-VQ-A8PX",{"$nulls":9},"Somatic",{"$nulls":8},"c.247dup",null,null,"ENST00000274710","2024-02-15",139,120,19,135,{"$nulls":3},"C","ENSG00000146005","ENST00000274710","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"A/AX","gcc/gCcc",null,null,1,"PSD2","HGNC","HGNC:19092","protein_coding","YES","CCDS4216.1","ENSP00000274710","Q9BQI7.149",null,"UPI0000073C6B",null,"NM_032289.4","NM_032289.4","P1",{"$nulls":3},"2024-02-15",{"$nulls":43},"HIGH",1,"insertion",1,3,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CNGA4",1262,"BI","GRCh38","chr11",6244065,6244065,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-A8PX",{"$nulls":9},"Somatic",{"$nulls":8},"c.1384A>G",null,null,"ENST00000379936","2024-06-06",43,38,5,42,{"$nulls":3},"G","ENSG00000132259","ENST00000379936","Transcript","missense_variant","missense_variant",{"$nulls":3},"T/A","Acc/Gcc",null,null,1,"CNGA4","HGNC","HGNC:2152","protein_coding","YES","CCDS31408.1","ENSP00000369268","Q8IV77.135",null,"UPI000004C7EC","Q8IV77-1","NM_001037329.4","NM_001037329.4","P1",null,"tolerated(0.64)","benign(0)","2024-06-06",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPL22",6146,"BI","GRCh38","chr1",6197725,6197725,"+","Frame_Shift_Del","DEL","T","T","-","rs759765382",null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.44del","p.Lys15ArgfsTer5","p.K15Rfs*5","ENST00000234875","2024-02-04",32,22,10,42,null,null,"RPL22,frameshift_variant,p.K15Rfs*5,ENST00000234875,NM_000983.4,c.44del,HIGH,YES,,,-1;RPL22,5_prime_UTR_variant,,ENST00000465335,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000497965,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000462296,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000471204,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000465387,,c.-56del,MODIFIER,,,,-1;AL031847.1,5_prime_UTR_variant,,ENST00000484532,,c.-56del,MODIFIER,YES,,,-1;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,,n.1839del,MODIFIER,,,,-1","-","ENSG00000116251","ENST00000234875","Transcript","frameshift_variant","frameshift_variant","66/2061","44/387","15/128","K/X","aAg/ag","rs759765382;COSV52379423",null,-1,"RPL22","HGNC","HGNC:10315","protein_coding","YES","CCDS58.1","ENSP00000346088","P35268.194",null,"UPI000015A487",null,"NM_000983.4","NM_000983.4","P1",{"$nulls":3},"2024-02-04",null,"PDB-ENSP_mappings:4ug0.LU;PDB-ENSP_mappings:4v6x.CU;PDB-ENSP_mappings:5aj0.AU;PDB-ENSP_mappings:5lks.LU;PDB-ENSP_mappings:5t2c.O;PDB-ENSP_mappings:6ek0.LU;PDB-ENSP_mappings:6ip5.2O;PDB-ENSP_mappings:6ip6.2O;PDB-ENSP_mappings:6ip8.2O;PDB-ENSP_mappings:6y0g.LU;PDB-ENSP_mappings:6y2l.LU;PDB-ENSP_mappings:6y57.LU;PANTHER:PTHR10064;Low_complexity_(Seg):seg",{"$nulls":8},"2.012e-05",0,0,0,"5.525e-05",0,"3.547e-05",0,0,"5.525e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",1,"TGCTTCTTTTTT",{"$nulls":4},"COSM179404","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["GLB1L",79411,"BI","GRCh38","chr2",219243566,219243566,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.8C>A","p.Pro3His","p.P3H","ENST00000295759","2024-02-17",84,70,14,87,{"$nulls":3},"T","ENSG00000163521","ENST00000295759","Transcript","missense_variant","missense_variant",{"$nulls":3},"P/H","cCc/cAc",null,null,-1,"GLB1L","HGNC","HGNC:28129","protein_coding","YES","CCDS2437.1","ENSP00000295759","Q6UWU2.126","A0A140VJK0.20","UPI000003ED32","Q6UWU2-1","NM_024506.5;NM_001286423.2","NM_001286423.2","P1",null,"deleterious_low_confidence(0.04)","benign(0.274)","2024-02-17",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["JADE2",23338,"BI","GRCh38","chr5",134559851,134559851,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.338del",null,null,"ENST00000395003","2024-05-11",67,52,14,81,{"$nulls":3},"-","ENSG00000043143","ENST00000395003","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"G/X","ggC/gg",null,null,1,"JADE2","HGNC","HGNC:22984","protein_coding",null,"CCDS4176.1","ENSP00000378451","Q9NQC1.155",null,"UPI00002331C9","Q9NQC1-1","NM_015288.6",null,"A2",{"$nulls":3},"2024-05-11",{"$nulls":43},"HIGH",null,"deletion",1,5,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FOXP4",116113,"BI","GRCh38","chr6",41597857,41597857,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000307972","16/17",23,19,4,30,{"$nulls":3},"A","ENSG00000137166","ENST00000307972","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/Q","cTg/cAg",null,null,1,"FOXP4","HGNC","HGNC:20842","protein_coding","YES","CCDS34447.1","ENSP00000309823","Q8IVH2.160",null,"UPI000007462D","Q8IVH2-1","NM_001012426.1",null,"A2",null,"deleterious(0.04)","probably_damaging(0.947)","16/17",null,"PANTHER:PTHR45796:SF7;PANTHER:PTHR45796",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["WNK2",65268,"BI","GRCh38","chr9",93289203,93289203,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000297954","20/30",22,16,6,36,{"$nulls":3},"-","ENSG00000165238","ENST00000297954","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"S/X","agC/ag",null,null,1,"WNK2","HGNC","HGNC:14542","protein_coding","YES","CCDS75858.1","ENSP00000297954","Q9Y3S1.176",null,"UPI0000236D76","Q9Y3S1-1","NM_001282394.1",null,"P4",{"$nulls":3},"20/30",null,"PANTHER:PTHR13902;PANTHER:PTHR13902:SF10;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,4,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["KLRK1",22914,"BI","GRCh38","chr12",10379777,10379777,"+","Frame_Shift_Del","DEL","A","A","-","rs756606329",null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.164del","p.Phe55SerfsTer7","p.F55Sfs*7","ENST00000240618","2024-04-08",26,18,8,34,null,null,"KLRK1,frameshift_variant,p.F55Sfs*7,ENST00000240618,NM_007360.4&NM_001199805.1,c.164del,HIGH,YES,,,-1;KLRK1,frameshift_variant,p.F55Sfs*7,ENST00000540818,,c.164del,HIGH,,,,-1;KLRK1,frameshift_variant,p.F55Sfs*7,ENST00000396451,,c.164del,HIGH,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543572,,c.*388del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000539300,,c.*361del,MODIFIER,YES,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000543812,,c.*361del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000586581,,c.*246del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590323,,c.*432del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000590131,,c.*246del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588447,,c.*489del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000588263,,c.*246del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585711,,c.*347del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591546,,c.*33del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000585507,,c.*547del,MODIFIER,,,,-1;KLRC4-KLRK1,3_prime_UTR_variant,,ENST00000591937,,c.*489del,MODIFIER,,,,-1;KLRK1,non_coding_transcript_exon_variant,,ENST00000544449,,n.312del,MODIFIER,,,,-1;KLRK1,non_coding_transcript_exon_variant,,ENST00000540267,,n.385del,MODIFIER,,,,-1;KLRC4-KLRK1,non_coding_transcript_exon_variant,,ENST00000539370,,n.697del,MODIFIER,,,,-1;KLRK1-AS1,non_coding_transcript_exon_variant,,ENST00000500682,,n.450del,MODIFIER,,,,1;KLRK1-AS1,non_coding_transcript_exon_variant,,ENST00000666750,,n.511del,MODIFIER,,,,1;KLRK1-AS1,non_coding_transcript_exon_variant,,ENST00000654540,,n.575del,MODIFIER,,,,1;KLRK1-AS1,non_coding_transcript_exon_variant,,ENST00000671087,,n.473del,MODIFIER,,,,1;KLRK1-AS1,non_coding_transcript_exon_variant,,ENST00000663376,,n.394del,MODIFIER,,,,1","-","ENSG00000213809","ENST00000240618","Transcript","frameshift_variant","frameshift_variant","328/1576","164/651","55/216","F/X","tTc/tc","rs756606329;COSV53699502",null,-1,"KLRK1","HGNC","HGNC:18788","protein_coding","YES","CCDS8623.1","ENSP00000240618","P26718.182","A0A024RAP8.43","UPI000013CAB1",null,"NM_007360.4;NM_001199805.1","NM_007360.4","P1",{"$nulls":3},"2024-04-08",null,"PANTHER:PTHR47494;Transmembrane_helices:TMhelix",{"$nulls":8},"1.636e-05",0,"3.016e-05",1.013E-4,0,0,"9.008e-06",0,"3.4e-05",1.013E-4,"gnomAD_ASJ","1.3556599697039928e-05",0,0,0,0,0,0,0,0,0.000992062967270612,0,0.000992062967270612,"oth",null,"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",null,"CAGCAGAAAAAA",{"$nulls":4},"COSM1358384","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["VPS4A",27183,"BI","GRCh38","chr16",69319424,69319425,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.506dup",null,null,"ENST00000254950","2024-06-11",98,80,18,114,{"$nulls":3},"C","ENSG00000132612","ENST00000254950","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"-/X","-/C",null,null,1,"VPS4A","HGNC","HGNC:13488","protein_coding","YES","CCDS45517.1","ENSP00000254950","Q9UN37.183","A0A024R705.45","UPI000000DC7F",null,"NM_013245.3","NM_013245.3","P1",{"$nulls":3},"2024-06-11",null,"CDD:cd00009;PANTHER:PTHR23074;PANTHER:PTHR23074:SF83;Pfam:PF00004;Gene3D:3.40.50.300;SMART:SM00382;Superfamily:SSF52540",{"$nulls":41},"HIGH",1,"insertion",1,5,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PFAS",5198,"BI","GRCh38","chr17",8256595,8256595,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.893A>C",null,null,"ENST00000314666","2024-08-28",103,80,23,96,{"$nulls":3},"C","ENSG00000178921","ENST00000314666","Transcript","missense_variant","missense_variant",{"$nulls":3},"Q/P","cAg/cCg",null,null,1,"PFAS","HGNC","HGNC:8863","protein_coding","YES","CCDS11136.1","ENSP00000313490","O15067.190",null,"UPI00001A95E5",null,"NM_012393.3","NM_012393.3","P1",null,"tolerated(0.26)","benign(0.003)","2024-08-28",null,"Gene3D:3.30.1330.10;HAMAP:MF_00419;PANTHER:PTHR10099;PANTHER:PTHR10099:SF1;Superfamily:SSF55326;TIGRFAM:TIGR01735;CDD:cd02203",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["USP16",10600,"BI","GRCh38","chr21",29037386,29037386,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-D7-A6EY",{"$nulls":9},"Somatic",{"$nulls":8},"c.559A>G",null,null,"ENST00000334352","2024-07-19",70,59,11,72,{"$nulls":3},"G","ENSG00000156256","ENST00000334352","Transcript","missense_variant","missense_variant",{"$nulls":3},"M/V","Atg/Gtg",null,null,1,"USP16","HGNC","HGNC:12614","protein_coding","YES","CCDS13583.1","ENSP00000334808","Q9Y5T5.181",null,"UPI00001379FA","Q9Y5T5-1","NM_001032410.1",null,"P4",null,"tolerated(0.3)","benign(0.003)","2024-07-19",{"$nulls":10},"2.412e-05",0,0,0,0,0,"3.531e-05",0,"6.717e-05","6.717e-05","gnomAD_SAS","6.757939900126075e-06",0,0,0,0,0,0,0,"1.5429699487867765e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KY",339855,"BI","GRCh38","chr3",134608823,134608823,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-A8P3",{"$nulls":9},"Somatic",{"$nulls":8},"c.916T>G","p.Phe306Val","p.F306V","ENST00000423778","2024-10-11",25,18,7,58,{"$nulls":3},"C","ENSG00000174611","ENST00000423778","Transcript","missense_variant","missense_variant",{"$nulls":3},"F/V","Ttc/Gtc",null,null,-1,"KY","HGNC","HGNC:26576","protein_coding","YES","CCDS46920.1","ENSP00000397598","Q8NBH2.117",null,"UPI0000EE2109","Q8NBH2-4","NM_178554.6;NM_001366277.2","NM_178554.6","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-10-11",null,"PANTHER:PTHR46333;PANTHER:PTHR46333:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRAMEF8",391002,"BI","GRCh38","chr1",13281705,13281705,"+","Missense_Mutation","SNP","T","T","A","novel",null,"TCGA-D7-A6EV",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000357367","2024-04-04",65,55,10,108,{"$nulls":3},"A","ENSG00000182330","ENST00000357367","Transcript","missense_variant","missense_variant",{"$nulls":3},"Q/L","cAa/cTa",null,null,-1,"PRAMEF8","HGNC","HGNC:24074","protein_coding","YES","CCDS72709.1","ENSP00000349931","Q5VWM4.119",null,"UPI000191706C",null,"NM_001012276.3",null,"P1",null,"deleterious(0.04)","probably_damaging(0.995)","2024-04-04",null,"Gene3D:3.80.10.10;PIRSF:PIRSF038286;PANTHER:PTHR14224;PANTHER:PTHR14224:SF30;Superfamily:SSF52047",{"$nulls":41},"MODERATE",1,"SNV",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SLC2A6",11182,"BI","GRCh38","chr9",133472116,133472116,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-D7-A6EV",{"$nulls":9},"Somatic",{"$nulls":8},"c.1429G>A","p.Val477Met","p.V477M","ENST00000371899","2024-10-10",86,78,7,121,{"$nulls":3},"T","ENSG00000160326","ENST00000371899","Transcript","missense_variant","missense_variant",null,"1429/1524","477/507","V/M","Gtg/Atg",null,null,-1,"SLC2A6","HGNC","HGNC:11011","protein_coding","YES","CCDS6975.1","ENSP00000360966","Q9UGQ3.170",null,"UPI0000001BE8","Q9UGQ3-1","NM_017585.4","NM_017585.4","P1",null,"deleterious(0.04)","benign(0.035)","2024-10-10",null,"Gene3D:1.20.1250.20;Pfam:PF00083;PROSITE_profiles:PS50850;PANTHER:PTHR23500;PANTHER:PTHR23500:SF111;Superfamily:SSF103473;TIGRFAM:TIGR00879;Transmembrane_helices:TMhelix;CDD:cd17434",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["LRRIQ1",84125,"BI","GRCh38","chr12",85106588,85106588,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CD-5813",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000393217","15/27",231,172,58,251,{"$nulls":3},"C","ENSG00000133640","ENST00000393217","Transcript","missense_variant","missense_variant",{"$nulls":3},"N/T","aAc/aCc",null,null,1,"LRRIQ1","HGNC","HGNC:25708","protein_coding","YES","CCDS41816.1","ENSP00000376910","Q96JM4.122","A0A140VJN5.22","UPI0000ED4E82","Q96JM4-4","NM_001079910.2","NM_001079910.2","P1",null,"deleterious(0)","probably_damaging(0.994)","15/27",null,"Gene3D:3.80.10.10;PROSITE_profiles:PS51450;PANTHER:PTHR10877;PANTHER:PTHR10877:SF184;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRIM41",90933,"BI","GRCh38","chr5",181232794,181232794,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-D7-A4YX",{"$nulls":9},"Somatic",{"$nulls":8},"c.1045G>A","p.Ala349Thr","p.A349T","ENST00000315073","2024-03-06",20,16,4,22,{"$nulls":3},"A","ENSG00000146063","ENST00000315073","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gcg/Acg",null,null,1,"TRIM41","HGNC","HGNC:19013","protein_coding","YES","CCDS4466.1","ENSP00000320869","Q8WV44.182",null,"UPI00001B248B","Q8WV44-1","NM_033549.5","NM_033549.5","P1",null,"tolerated(0.35)","benign(0.07)","2024-03-06",{"$nulls":10},"4.321e-06",0,0,0,null,0,0,0,0,null,"gnomAD_EAS","6.758670224371599e-06",0,0,0,0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["NR4A2",4929,"BI","GRCh38","chr2",156328008,156328008,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-6566",{"$nulls":9},"Somatic",{"$nulls":8},"c.1001G>A","p.Arg334His","p.R334H","ENST00000339562","2024-05-08",16,11,5,16,{"$nulls":3},"T","ENSG00000153234","ENST00000339562","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGc/cAc",null,null,-1,"NR4A2","HGNC","HGNC:7981","protein_coding","YES","CCDS2201.1","ENSP00000344479","P43354.209","F1D8N6.85","UPI0000036A18","P43354-1","NM_006186.4","NM_006186.4","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-05-08",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC35D3",340146,"BI","GRCh38","chr6",136924668,136924668,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-6566",{"$nulls":9},"Somatic",{"$nulls":8},"c.1223T>C","p.Ile408Thr","p.I408T","ENST00000331858","2024-02-02",61,41,19,70,{"$nulls":3},"C","ENSG00000182747","ENST00000331858","Transcript","missense_variant","missense_variant",{"$nulls":3},"I/T","aTa/aCa",null,null,1,"SLC35D3","HGNC","HGNC:15621","protein_coding","YES","CCDS34544.1","ENSP00000333591","Q5M8T2.105",null,"UPI00003673E9",null,"NM_001008783.3","NM_001008783.3","P1",null,"deleterious_low_confidence(0)","benign(0.1)","2024-02-02",{"$nulls":10},"1.595e-05",0,0.0001157,0,0,0,0,0,0,0.0001157,"gnomAD_AMR","6.763149940525182e-06",0,0,"6.627779657719657e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STXBP1",6812,"BI","GRCh38","chr9",127690856,127690856,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-6566",{"$nulls":9},"Somatic",{"$nulls":8},"c.*5del",null,null,"ENST00000373299","19/19",130,109,21,128,{"$nulls":3},"-","ENSG00000136854","ENST00000373299","Transcript","frameshift_variant","frameshift_variant;stop_lost",null,"1784/1785","595/594","*/X","tAa/ta",null,null,1,"STXBP1","HGNC","HGNC:11444","protein_coding",null,"CCDS35146.1","ENSP00000362396","P61764.161",null,"UPI0000000ED9","P61764-1","NM_001032221.6;NM_001374306.2","NM_001032221.6","P3",{"$nulls":3},"19/19",{"$nulls":10},"2.399e-05",0,0,0,0.0002727,0,"8.851e-06",0,0,0.0002727,"gnomAD_EAS","6.765630132576916e-06",0,0,0,0,0.000202020004508085,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",null,"deletion",1,null,"0;1",1,"GCAGTTAAAAAA",{"$nulls":5},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TTYH2",94015,"BI","GRCh38","chr17",74249359,74249359,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-6566",{"$nulls":9},"Somatic",{"$nulls":8},"c.890A>G","p.Tyr297Cys","p.Y297C","ENST00000269346","2024-08-14",237,186,49,211,{"$nulls":3},"G","ENSG00000141540","ENST00000269346","Transcript","missense_variant","missense_variant",{"$nulls":3},"Y/C","tAc/tGc",null,null,1,"TTYH2","HGNC","HGNC:13877","protein_coding","YES","CCDS32717.1","ENSP00000269346","Q9BSA4.139",null,"UPI00002001AA","Q9BSA4-1","NM_032646.6","NM_032646.6","P1",null,"deleterious(0.03)","probably_damaging(1)","2024-08-14",null,"Pfam:PF04906;PANTHER:PTHR12424;PANTHER:PTHR12424:SF6;CDD:cd07912",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTACTACCTGT",{"$nulls":5},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SIN3B",23309,"BI","GRCh38","chr19",16866530,16866530,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-6566",{"$nulls":9},"Somatic",{"$nulls":8},"c.1876A>G","p.Asn626Asp","p.N626D","ENST00000379803","13/20",72,54,18,87,{"$nulls":3},"G","ENSG00000127511","ENST00000379803","Transcript","missense_variant","missense_variant",{"$nulls":3},"N/D","Aac/Gac",null,null,1,"SIN3B","HGNC","HGNC:19354","protein_coding","YES","CCDS32946.1","ENSP00000369131","O75182.173",null,"UPI0000425EFA","O75182-1","NM_015260.4",null,"A2",null,"deleterious(0)","possibly_damaging(0.696)","13/20",null,"PANTHER:PTHR12346;PANTHER:PTHR12346:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["THADA",63892,"BI","GRCh38","chr2",43560340,43560340,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CG-5726",{"$nulls":9},"Somatic",{"$nulls":8},"c.2357G>A","p.Gly786Asp","p.G786D","ENST00000405006","16/38",37,28,9,43,{"$nulls":3},"T","ENSG00000115970","ENST00000405006","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/D","gGt/gAt",null,null,-1,"THADA","HGNC","HGNC:19217","protein_coding","YES","CCDS46268.1","ENSP00000385995","Q6YHU6.138",null,"UPI00001C0473","Q6YHU6-1","NM_001083953.1",null,"P1",null,"tolerated(0.31)","benign(0.001)","16/38",null,"PANTHER:PTHR14387:SF7;PANTHER:PTHR14387;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
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["MBOAT1",154141,"BI","GRCh38","chr6",20126649,20126649,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-CG-5726",{"$nulls":9},"Somatic",{"$nulls":8},"c.582T>G",null,null,"ENST00000324607","2024-07-13",202,170,32,241,{"$nulls":3},"C","ENSG00000172197","ENST00000324607","Transcript","missense_variant","missense_variant",{"$nulls":3},"S/R","agT/agG",null,null,-1,"MBOAT1","HGNC","HGNC:21579","protein_coding","YES","CCDS34346.1","ENSP00000324944","Q6ZNC8.125",null,"UPI000020D5D0","Q6ZNC8-1","NM_001080480.3","NM_001080480.3","P1",null,"deleterious(0.03)","probably_damaging(0.999)","2024-07-13",null,"PANTHER:PTHR13906;PANTHER:PTHR13906:SF6;Pfam:PF03062",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
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["SLC46A1",113235,"BI","GRCh38","chr17",28404922,28404922,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4GN",{"$nulls":9},"Somatic",{"$nulls":8},"c.775G>A","p.Ala259Thr","p.A259T","ENST00000612814","2024-02-05",158,146,12,191,{"$nulls":3},"T","ENSG00000076351","ENST00000612814","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gcc/Acc",null,null,-1,"SLC46A1","HGNC","HGNC:30521","protein_coding","YES","CCDS74020.1","ENSP00000480703","Q96NT5.154","A0A024QZ15.42","UPI0000050394","Q96NT5-1","NM_080669.6","NM_080669.6","P4",null,"tolerated(0.32)","benign(0.195)","2024-02-05",null,"Gene3D:1.20.1250.20;Pfam:PF07690;PROSITE_profiles:PS50850;PANTHER:PTHR23507;PANTHER:PTHR23507:SF2;Superfamily:SSF103473;CDD:cd17449",{"$nulls":6},0,0.0001201,"1.204e-05",0,0,0,0,0,"1.77e-05",1.652E-4,0,1.652E-4,"gnomAD_OTH","6.7614200816024095e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":11},"MODERATE",null,"SNV",2,null,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR13C4",138804,"BI","GRCh38","chr9",104526809,104526809,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CD-5800",{"$nulls":9},"Somatic",{"$nulls":8},"c.401T>C",null,null,"ENST00000277216","2024-01-01",166,154,12,215,{"$nulls":3},"G","ENSG00000148136","ENST00000277216","Transcript","missense_variant","missense_variant",null,null,"134/318","I/T","aTc/aCc",null,null,-1,"OR13C4","HGNC","HGNC:14722","protein_coding","YES","CCDS35088.1","ENSP00000277216","Q8NGS5.141","A0A126GVC9.35","UPI0000041B46",null,"NM_001001919.1","NM_001001919.1","P1",null,"deleterious(0.05)","benign(0.027)","2024-01-01",{"$nulls":10},"3.984e-06",0,0,0,0,0,"8.822e-06",0,0,"8.822e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["BZW1",9689,"BI","GRCh38","chr2",200818782,200818782,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-6802",{"$nulls":9},"Somatic",{"$nulls":8},"c.854del","p.Asn285ThrfsTer11","p.N285Tfs*11","ENST00000409600","2024-09-12",70,60,8,80,null,null,"BZW1,frameshift_variant,p.N285Tfs*11,ENST00000409600,NM_014670.3&NM_001321690.1&NM_001207067.2&NM_001321691.2&NM_001321694.2&NM_001321693.2&NM_001321688.2,c.854del,HIGH,,,,1;BZW1,frameshift_variant,p.N289Tfs*11,ENST00000409226,NM_001207069.1,c.866del,HIGH,,,,1;BZW1,frameshift_variant,p.N317Tfs*11,ENST00000452790,NM_001207068.3,c.950del,HIGH,YES,,,1;BZW1,frameshift_variant,p.N285Tfs*?,ENST00000410110,,c.854del,HIGH,,,,1;BZW1,frameshift_variant,p.N35Tfs*11,ENST00000359893,,c.103del,HIGH,,,,1;BZW1,downstream_gene_variant,,ENST00000419090,,,MODIFIER,,,,1;BZW1,downstream_gene_variant,,ENST00000447069,,,MODIFIER,,,,1;BZW1,downstream_gene_variant,,ENST00000450637,,,MODIFIER,,,,1;BZW1,downstream_gene_variant,,ENST00000452206,,,MODIFIER,,,,1;BZW1,non_coding_transcript_exon_variant,,ENST00000463310,,n.256del,MODIFIER,,,,1;BZW1,non_coding_transcript_exon_variant,,ENST00000491576,,n.157del,MODIFIER,,,,1;BZW1,downstream_gene_variant,,ENST00000464483,,,MODIFIER,,,,1","-","ENSG00000082153","ENST00000409600","Transcript","frameshift_variant","frameshift_variant","938/6511","847/1260","283/419","K/X","Aaa/aa",null,null,1,"BZW1","HGNC","HGNC:18380","protein_coding",null,"CCDS56156.1","ENSP00000386474","Q7L1Q6.142",null,"UPI0000029986","Q7L1Q6-1","NM_014670.3;NM_001321690.1;NM_001207067.2;NM_001321691.2;NM_001321694.2;NM_001321693.2;NM_001321688.2","NM_001207067.2","P4",{"$nulls":3},"2024-09-12",null,"Gene3D:1.25.40.180;PROSITE_profiles:PS51363;PANTHER:PTHR14208;PANTHER:PTHR14208:SF0;Superfamily:SSF48371;CDD:cd11560",{"$nulls":41},"HIGH",null,"deletion",1,7,null,null,"GAGATGAAAAAA",{"$nulls":4},"COSM1404422;COSM1404423","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["DNAH8",1769,"BI","GRCh38","chr6",38863909,38863921,"+","Frame_Shift_Del","DEL",null,null,"-","novel",null,"TCGA-BR-6802",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000359357","43/91",148,136,12,139,{"$nulls":3},"-","ENSG00000124721","ENST00000359357","Transcript","frameshift_variant","frameshift_variant",{"$nulls":7},1,"DNAH8","HGNC","HGNC:2952","protein_coding",null,null,"ENSP00000352312","Q96JB1.136",null,"UPI00003677EB","Q96JB1-1","NM_001371.4",null,"A2",{"$nulls":3},"43/91",null,"Gene3D:3.40.50.300;Pfam:PF12774;PANTHER:PTHR10676;PANTHER:PTHR10676:SF361;SMART:SM00382;Superfamily:SSF52540;CDD:cd00009",{"$nulls":41},"HIGH",null,"deletion",2,{"$nulls":9},"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["PLIN4",729359,"BI","GRCh38","chr19",4504754,4504754,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-6802",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000301286","2024-06-06",24,20,4,27,{"$nulls":3},"T","ENSG00000167676","ENST00000301286","Transcript","missense_variant","missense_variant",{"$nulls":3},"C/Y","tGc/tAc",null,null,-1,"PLIN4","HGNC","HGNC:29393","protein_coding",null,null,"ENSP00000301286","Q96Q06.121",null,"UPI00001D822A","Q96Q06-1",null,null,"P4",null,"tolerated(0.06)","possibly_damaging(0.908)","2024-06-06",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
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["FAM217A",222826,"BI","GRCh38","chr6",4069746,4069746,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-MX-A5UJ",{"$nulls":9},"Somatic",{"$nulls":8},"c.477del",null,null,"ENST00000274673","2024-07-07",56,43,13,41,{"$nulls":3},"-","ENSG00000145975","ENST00000274673","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"F/X","ttT/tt",null,null,-1,"FAM217A","HGNC","HGNC:21362","protein_coding",null,"CCDS4489.1","ENSP00000274673","Q8IXS0.113",null,"UPI0000160AA7",null,"NM_173563.3","NM_173563.3","A2",{"$nulls":3},"2024-07-07",{"$nulls":43},"HIGH",null,"deletion",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
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["TBX22",50945,"BI","GRCh38","chrX",80022381,80022381,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-MX-A5UJ",{"$nulls":9},"Somatic",{"$nulls":8},"c.116del",null,null,"ENST00000373294","2024-01-08",38,29,8,27,{"$nulls":3},"-","ENSG00000122145","ENST00000373294","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"K/X","Aaa/aa",null,null,1,"TBX22","HGNC","HGNC:11600","protein_coding",null,"CCDS14445.1","ENSP00000362390","Q9Y458.175",null,"UPI00001377ED","Q9Y458-1","NM_016954.2;NM_001303475.1",null,"P1",{"$nulls":3},"2024-01-08",{"$nulls":43},"HIGH",null,"deletion",1,4,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZMAT1",84460,"BI","GRCh38","chrX",101883626,101883626,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-D7-6526",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000372782","2024-07-07",152,128,23,134,{"$nulls":3},"A","ENSG00000166432","ENST00000372782","Transcript","missense_variant","missense_variant",null,null,"601/638","S/C","Agc/Tgc",null,null,-1,"ZMAT1","HGNC","HGNC:29377","protein_coding",null,"CCDS35348.1","ENSP00000361868","Q5H9K5.128",null,"UPI0001DD37FB",null,"NM_001011657.4",null,"A2",null,"deleterious(0.01)","probably_damaging(0.959)","2024-07-07",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EMILIN1",11117,"BI","GRCh38","chr2",27082918,27082918,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.1353del","p.Leu452CysfsTer5","p.L452Cfs*5","ENST00000380320","2024-04-08",16,10,6,18,null,null,"EMILIN1,frameshift_variant,p.L452Cfs*5,ENST00000380320,NM_007046.4,c.1353del,HIGH,YES,,,1;KHK,upstream_gene_variant,,ENST00000260598,NM_006488.3,,MODIFIER,,,,1;KHK,upstream_gene_variant,,ENST00000260599,NM_000221.3,,MODIFIER,YES,,,1;KHK,upstream_gene_variant,,ENST00000429697,,,MODIFIER,,,,1;EMILIN1,upstream_gene_variant,,ENST00000433140,,,MODIFIER,,,,1;KHK,upstream_gene_variant,,ENST00000490823,,,MODIFIER,,,,1","-","ENSG00000138080","ENST00000380320","Transcript","frameshift_variant","frameshift_variant","1798/3890","1347/3051","449/1016","L/X","ttG/tt","COSV53155402",null,1,"EMILIN1","HGNC","HGNC:19880","protein_coding","YES","CCDS1733.1","ENSP00000369677","Q9Y6C2.177",null,"UPI0000073B0E","Q9Y6C2-1","NM_007046.4","NM_007046.4","P1",{"$nulls":3},"2024-04-08",null,"PANTHER:PTHR15427:SF1;PANTHER:PTHR15427",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,6,1,1,"GCAGTTGGGGGG",{"$nulls":4},"COSM2913095","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["FAT1",2195,"BI","GRCh38","chr4",186709394,186709394,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.434T>C","p.Leu145Ser","p.L145S","ENST00000441802","2024-02-27",154,114,40,146,{"$nulls":3},"G","ENSG00000083857","ENST00000441802","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/S","tTg/tCg",null,null,-1,"FAT1","HGNC","HGNC:3595","protein_coding",null,"CCDS47177.1","ENSP00000406229","Q14517.189",null,"UPI000051946B",null,"NM_005245.4","NM_005245.4","P4",null,"deleterious(0)","probably_damaging(0.999)","2024-02-27",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STX1A",6804,"BI","GRCh38","chr7",73702933,73702933,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.590C>T","p.Thr197Met","p.T197M","ENST00000222812","2024-08-10",36,27,9,56,{"$nulls":3},"A","ENSG00000106089","ENST00000222812","Transcript","missense_variant","missense_variant",null,null,"197/288","T/M","aCg/aTg",null,null,-1,"STX1A","HGNC","HGNC:11433","protein_coding","YES","CCDS34655.1","ENSP00000222812","Q16623.201","Q75ME0.137","UPI0000136065","Q16623-1","NM_004603.4","NM_004603.4","P1",null,"deleterious(0)","possibly_damaging(0.851)","2024-08-10",{"$nulls":22},"2.4412900529569015e-05",0,"6.64452018099837e-05",0,0,0,0,"1.543970029160846e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RIPK2",8767,"BI","GRCh38","chr8",89769893,89769893,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.609del","p.Lys203AsnfsTer36","p.K203Nfs*36","ENST00000220751","2024-04-11",132,92,40,126,null,null,"RIPK2,frameshift_variant,p.K203Nfs*36,ENST00000220751,NM_003821.6&NM_001375360.1,c.609del,HIGH,YES,,,1;RIPK2,3_prime_UTR_variant,,ENST00000522965,,c.*248del,MODIFIER,,,,1","-","ENSG00000104312","ENST00000220751","Transcript","frameshift_variant","frameshift_variant","850/2516","605/1623","202/540","Q/X","cAa/ca",null,null,1,"RIPK2","HGNC","HGNC:10020","protein_coding","YES","CCDS6247.1","ENSP00000220751","O43353.213","A0A0S2Z4Z8.23","UPI00001338F2","O43353-1","NM_003821.6;NM_001375360.1","NM_003821.6","P1",{"$nulls":3},"2024-04-11",null,"PDB-ENSP_mappings:4c8b.A;PDB-ENSP_mappings:4c8b.B;PDB-ENSP_mappings:5ar2.A;PDB-ENSP_mappings:5ar2.B;PDB-ENSP_mappings:5ar3.A;PDB-ENSP_mappings:5ar3.B;PDB-ENSP_mappings:5ar4.A;PDB-ENSP_mappings:5ar4.B;PDB-ENSP_mappings:5ar5.A;PDB-ENSP_mappings:5ar5.B;PDB-ENSP_mappings:5ar7.A;PDB-ENSP_mappings:5ar7.B;PDB-ENSP_mappings:5ar8.A;PDB-ENSP_mappings:5ar8.B;PDB-ENSP_mappings:5j79.A;PDB-ENSP_mappings:5j79.B;PDB-ENSP_mappings:5j7b.A;PDB-ENSP_mappings:5j7b.B;PDB-ENSP_mappings:5ng0.A;PDB-ENSP_mappings:5ng0.B;PDB-ENSP_mappings:5ng2.A;PDB-ENSP_mappings:5ng2.B;PDB-ENSP_mappings:5ng3.A;PDB-ENSP_mappings:5ng3.B;PDB-ENSP_mappings:5ng3.C;PDB-ENSP_mappings:5ng3.D;PDB-ENSP_mappings:5w5j.A;PDB-ENSP_mappings:5w5j.B;PDB-ENSP_mappings:5w5o.A;PDB-ENSP_mappings:5w5o.B;PDB-ENSP_mappings:5w5o.C;PDB-ENSP_mappings:5w5o.D;PDB-ENSP_mappings:5w5o.E;PDB-ENSP_mappings:5w5o.F;PDB-ENSP_mappings:5w5o.G;PDB-ENSP_mappings:5w5o.H;PDB-ENSP_mappings:5w5o.I;PDB-ENSP_mappings:5w5o.J;PDB-ENSP_mappings:5w5o.K;PDB-ENSP_mappings:5w5o.L;PDB-ENSP_mappings:5w5o.M;PDB-ENSP_mappings:5w5o.N;PDB-ENSP_mappings:5w5o.O;PDB-ENSP_mappings:5w5o.P;PDB-ENSP_mappings:6es0.A;PDB-ENSP_mappings:6es0.B;PDB-ENSP_mappings:6fu5.A;PDB-ENSP_mappings:6fu5.B;PDB-ENSP_mappings:6hmx.A;PDB-ENSP_mappings:6hmx.B;PDB-ENSP_mappings:6rn8.A;PDB-ENSP_mappings:6rn8.B;PDB-ENSP_mappings:6rna.A;PDB-ENSP_mappings:6rna.B;PDB-ENSP_mappings:6s1f.A;PDB-ENSP_mappings:6s1f.B;PDB-ENSP_mappings:6s1f.C;PDB-ENSP_mappings:6s1f.D;PDB-ENSP_mappings:6sze.A;PDB-ENSP_mappings:6sze.B;PDB-ENSP_mappings:6szj.A;PDB-ENSP_mappings:6szj.B;PDB-ENSP_mappings:6ul8.A;PDB-ENSP_mappings:6ul8.B;PROSITE_profiles:PS50011;CDD:cd14026;PANTHER:PTHR24198;PANTHER:PTHR24198:SF171;PIRSF:PIRSF037921;Gene3D:1.10.510.10;Pfam:PF07714;SMART:SM00220;Superfamily:SSF56112",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"CTGGACAAAAAT",{"$nulls":5},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CD163L1",283316,"BI","GRCh38","chr12",7374610,7374610,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000313599","13/20",88,68,20,75,{"$nulls":3},"T","ENSG00000177675","ENST00000313599","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/M","Gtg/Atg",null,null,-1,"CD163L1","HGNC","HGNC:30375","protein_coding",null,"CCDS8577.1","ENSP00000315945","Q9NR16.143",null,"UPI000013F5AD","Q9NR16-1","NM_174941.6","NM_174941.6","P4",null,"tolerated(0.17)","benign(0.257)","13/20",null,"Gene3D:3.10.250.10;Pfam:PF00530;PROSITE_profiles:PS50287;PANTHER:PTHR19331;PANTHER:PTHR19331:SF309;SMART:SM00202;Superfamily:SSF56487",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO5A",4644,"BI","GRCh38","chr15",52379850,52379850,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.2071C>T","p.Arg691Ter","p.R691*","ENST00000399231","17/41",84,64,20,75,{"$nulls":3},"A","ENSG00000197535","ENST00000399231","Transcript","stop_gained","stop_gained",{"$nulls":3},"R/*","Cga/Tga",null,null,-1,"MYO5A","HGNC","HGNC:7602","protein_coding",null,"CCDS42037.1","ENSP00000382177","Q9Y4I1.198",null,"UPI0000E445E1","Q9Y4I1-1","NM_000259.3;NM_001382349.1",null,"A1",{"$nulls":3},"17/41",{"$nulls":35},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IL12RB1",3594,"BI","GRCh38","chr19",18062270,18062270,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-VQ-A924",{"$nulls":9},"Somatic",{"$nulls":8},"c.1626G>T",null,null,"ENST00000593993","14/17",49,35,14,43,{"$nulls":3},"A","ENSG00000096996","ENST00000593993","Transcript","missense_variant","missense_variant",{"$nulls":3},"Q/H","caG/caT",null,null,-1,"IL12RB1","HGNC","HGNC:5971","protein_coding",null,"CCDS54232.1","ENSP00000472165","P42701.191",null,"UPI00000502CE","P42701-1","NM_001290023.2;NM_005535.3","NM_005535.3","P1",null,"deleterious(0.01)","possibly_damaging(0.819)","14/17",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SUCO",51430,"BI","GRCh38","chr1",172585036,172585036,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-B7-A5TI",{"$nulls":9},"Somatic",{"$nulls":8},"c.1517T>C","p.Val506Ala","p.V506A","ENST00000263688","16/24",29,23,6,45,{"$nulls":3},"C","ENSG00000094975","ENST00000263688","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/A","gTg/gCg",null,null,1,"SUCO","HGNC","HGNC:1240","protein_coding",null,"CCDS1303.1","ENSP00000263688","Q9UBS9.137",null,"UPI0000070BAC","Q9UBS9-1","NM_014283.5","NM_014283.5","A2",null,"deleterious(0)","probably_damaging(0.96)","16/24",null,"PANTHER:PTHR12953;PANTHER:PTHR12953:SF0",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["STON1",11037,"BI","GRCh38","chr2",48595242,48595242,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-B7-A5TI",{"$nulls":9},"Somatic",{"$nulls":8},"c.2148del",null,null,"ENST00000404752","2024-04-04",56,45,11,47,{"$nulls":3},"-","ENSG00000243244","ENST00000404752","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"K/X","aaG/aa",null,null,1,"STON1","HGNC","HGNC:17003","protein_coding",null,"CCDS1841.1","ENSP00000385273","Q9Y6Q2.154",null,"UPI000006E627","Q9Y6Q2-1","NM_006873.4","NM_006873.4","P1",{"$nulls":3},"2024-04-04",{"$nulls":35},"0;1;1",{"$nulls":7},"HIGH",null,"deletion",1,null,"0;1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ZNF462",58499,"BI","GRCh38","chr9",106929083,106929083,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-B7-A5TI",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000277225","2024-03-13",63,40,23,48,{"$nulls":3},"T","ENSG00000148143","ENST00000277225","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/V","gCg/gTg",null,null,1,"ZNF462","HGNC","HGNC:21684","protein_coding","YES","CCDS35096.1","ENSP00000277225","Q96JM2.157",null,"UPI0000470106","Q96JM2-1","NM_021224.6;NM_001347997.2","NM_021224.6","P1",null,"deleterious(0.05)","probably_damaging(0.994)","2024-03-13",null,"Gene3D:3.30.160.60;PANTHER:PTHR24403;PANTHER:PTHR24403:SF58",{"$nulls":8},"3.978e-06",0,0,0,0,0,"8.795e-06",0,0,"8.795e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC40",55036,"BI","GRCh38","chr17",80095366,80095366,"+","Missense_Mutation","SNP","G","G","A","rs760027732",null,"TCGA-B7-A5TI",{"$nulls":9},"Somatic",{"$nulls":8},"c.2936G>A","p.Arg979His","p.R979H","ENST00000397545","18/20",105,74,31,110,null,null,"CCDC40,missense_variant,p.R979H,ENST00000397545,NM_017950.4,c.2936G>A,MODERATE,YES,deleterious(0.02),benign(0.251),1;CCDC40,downstream_gene_variant,,ENST00000374877,NM_001243342.1,,MODIFIER,,,,1;MIR1268B,upstream_gene_variant,,ENST00000579691,,,MODIFIER,YES,,,1;CCDC40,downstream_gene_variant,,ENST00000573903,,,MODIFIER,,,,1;CCDC40,non_coding_transcript_exon_variant,,ENST00000572253,,n.3187G>A,MODIFIER,,,,1;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,,n.2473G>A,MODIFIER,,,,1;CCDC40,downstream_gene_variant,,ENST00000575431,,,MODIFIER,,,,1","A","ENSG00000141519","ENST00000397545","Transcript","missense_variant","missense_variant","2957/4288","2936/3429","979/1142","R/H","cGc/cAc","rs760027732;COSV66474260",null,1,"CCDC40","HGNC","HGNC:26090","protein_coding","YES","CCDS42395.1","ENSP00000380679","Q4G0X9.132",null,"UPI0000201739","Q4G0X9-1","NM_017950.4","NM_017950.4","P4",null,"deleterious(0.02)","benign(0.251)","18/20",null,"PANTHER:PTHR16275",{"$nulls":8},"2.81e-05",0,"8.691e-05",0,"5.565e-05",0,"2.658e-05",0,0,"8.691e-05","gnomAD_AMR","6.756029961252352e-06",0,0,0,0,0,0,0,"1.5427800462930463e-05",0,0,null,null,"uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"1;1",1,"GCAGCGCAAGA",{"$nulls":4},"COSM1199969","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR6K2",81448,"BI","GRCh38","chr1",158700343,158700343,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A91K",{"$nulls":9},"Somatic",{"$nulls":8},"c.310C>T","p.His104Tyr","p.H104Y","ENST00000359610","2024-01-01",48,33,15,63,{"$nulls":3},"A","ENSG00000196171","ENST00000359610","Transcript","missense_variant","missense_variant","310/975","310/975","104/324","H/Y","Cat/Tat",null,null,-1,"OR6K2","HGNC","HGNC:15029","protein_coding","YES","CCDS30902.1","ENSP00000352626","Q8NGY2.136","A0A126GV58.20","UPI000004B208",null,"NM_001005279.2",null,"P1",null,"deleterious(0.03)","probably_damaging(0.999)","2024-01-01",{"$nulls":10},"7.958e-06",0,0,0,0,0,0,0,"6.533e-05","6.533e-05","gnomAD_SAS",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IGKV1-8",28942,"BI","GRCh38","chr2",88992842,88992842,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A91K",{"$nulls":9},"Somatic",{"$nulls":8},"c.37C>T","p.Leu13Phe","p.L13F","ENST00000495489","2024-01-02",128,85,43,177,{"$nulls":3},"A","ENSG00000240671","ENST00000495489","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/F","Ctc/Ttc",null,null,-1,"IGKV1-8","HGNC","HGNC:5743","IG_V_gene","YES",null,"ENSP00000419211","A0A0C4DH67.36",null,"UPI00001148EE",{"$nulls":3},"P1","cds_end_NF","tolerated(0.07)","possibly_damaging(0.529)","2024-01-02",{"$nulls":10},"4.072e-06",0,"2.904e-05",0,0,0,0,0,0,"2.904e-05","gnomAD_AMR",{"$nulls":22},"MODERATE",1,"SNV",{"$nulls":10},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
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["LHX1",3975,"BI","GRCh38","chr17",36943098,36943098,"+","Frame_Shift_Del","DEL","C","C","-","rs775423572",null,"TCGA-BR-8078",{"$nulls":9},"Somatic",{"$nulls":8},"c.1194del","p.Glu399LysfsTer2","p.E399Kfs*2","ENST00000614239","2024-05-05",18,13,5,36,null,null,"LHX1,frameshift_variant,p.E399Kfs*2,ENST00000614239,NM_005568.5,c.1194del,HIGH,YES,,,1;LHX1,intron_variant,,ENST00000621767,,c.69-138del,MODIFIER,,,,1;LHX1,downstream_gene_variant,,ENST00000673652,,,MODIFIER,,,,1;LHX1,downstream_gene_variant,,ENST00000616237,,,MODIFIER,,,,1;LHX1,downstream_gene_variant,,ENST00000619939,,,MODIFIER,,,,1;AC243773.1,non_coding_transcript_exon_variant,,ENST00000614759,,n.359del,MODIFIER,YES,,,-1","-","ENSG00000273706","ENST00000614239","Transcript","frameshift_variant","frameshift_variant","1911/3425","1188/1221","396/406","H/X","caC/ca","rs775423572",null,1,"LHX1","HGNC","HGNC:6593","protein_coding","YES","CCDS11316.1","ENSP00000477829","P48742.178",null,"UPI000013CE37",null,"NM_005568.5","NM_005568.5","P1",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR24208;PANTHER:PTHR24208:SF106",{"$nulls":8},"4.145e-06",0,"2.953e-05",0,0,0,0,0,0,"2.953e-05","gnomAD_AMR",{"$nulls":22},"HIGH",1,"deletion",1,6,null,1,"GTCCCACCCCCC",{"$nulls":5},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
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["SLC1A5",6510,"BI","GRCh38","chr19",46778831,46778831,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-F1-6177",{"$nulls":9},"Somatic",{"$nulls":8},"c.902G>A","p.Arg301His","p.R301H","ENST00000542575","2024-05-08",62,50,12,88,{"$nulls":3},"T","ENSG00000105281","ENST00000542575","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGc/cAc",null,null,-1,"SLC1A5","HGNC","HGNC:10943","protein_coding","YES","CCDS12692.1","ENSP00000444408","Q15758.197",null,"UPI000012507D","Q15758-1","NM_005628.3","NM_005628.3","P1",null,"deleterious(0.01)","possibly_damaging(0.631)","2024-05-08",{"$nulls":21},"2.7041600333177485e-05","4.863580033998005e-05",0,0,0,0,0,0,"1.543160033179447e-05",0,0.000208507000934332,"4.863580033998005e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF445",353274,"BI","GRCh38","chr3",44455224,44455224,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-CG-4437",{"$nulls":9},"Somatic",{"$nulls":8},"c.326G>C",null,null,"ENST00000396077","2024-03-08",68,52,16,112,{"$nulls":3},"G","ENSG00000185219","ENST00000396077","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/A","gGg/gCg",null,null,-1,"ZNF445","HGNC","HGNC:21018","protein_coding","YES","CCDS2713.1","ENSP00000379387","P59923.145",null,"UPI000019AD12",null,"NM_001369454.1;NM_181489.6","NM_181489.6","P1",null,"tolerated(0.21)","benign(0.077)","2024-03-08",null,"Gene3D:1.10.4020.10;Pfam:PF02023;PROSITE_profiles:PS50804;SMART:SM00431;Superfamily:SSF47353;CDD:cd07936",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VPS51",738,"BI","GRCh38","chr11",65096471,65096471,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-CG-4437",{"$nulls":9},"Somatic",{"$nulls":8},"c.221T>A","p.Leu74Gln","p.L74Q","ENST00000279281","2024-01-10",26,21,5,23,{"$nulls":3},"A","ENSG00000149823","ENST00000279281","Transcript","missense_variant","missense_variant",{"$nulls":3},"L/Q","cTa/cAa",null,null,1,"VPS51","HGNC","HGNC:1172","protein_coding","YES","CCDS8093.1","ENSP00000279281","Q9UID3.145",null,"UPI000006D6D8","Q9UID3-1","NM_013265.4","NM_013265.4","P1",null,"deleterious(0)","probably_damaging(0.983)","2024-01-10",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["TM9SF2",9375,"BI","GRCh38","chr13",99529543,99529562,"+","Frame_Shift_Del","DEL",null,null,"-","novel",null,"TCGA-CG-4437",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000376387","2024-04-17",130,112,18,114,{"$nulls":3},"-","ENSG00000125304","ENST00000376387","Transcript","frameshift_variant","frameshift_variant",{"$nulls":7},1,"TM9SF2","HGNC","HGNC:11865","protein_coding",null,"CCDS9493.1","ENSP00000365567","Q99805.146","A0A024QYR8.50","UPI000013684D",null,"NM_004800.3","NM_004800.3","P1",{"$nulls":3},"2024-04-17",null,"Pfam:PF02990;PANTHER:PTHR10766;PANTHER:PTHR10766:SF36",{"$nulls":41},"HIGH",null,"deletion",1,5,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["PLCL1",5334,"BI","GRCh38","chr2",198146867,198146867,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-AA6J",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000428675","2024-06-06",43,34,9,40,{"$nulls":3},"C","ENSG00000115896","ENST00000428675","Transcript","missense_variant","missense_variant",{"$nulls":3},"S/R","Agt/Cgt",null,null,1,"PLCL1","HGNC","HGNC:9063","protein_coding","YES","CCDS2326.2","ENSP00000402861","Q15111.162",null,"UPI000165BCF5","Q15111-1","NM_006226.4","NM_006226.4","P1",null,"tolerated(0.15)","benign(0.221)","2024-06-06",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["INO80D",54891,"BI","GRCh38","chr2",206017682,206017682,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CD-8536",{"$nulls":9},"Somatic",{"$nulls":8},"c.1540del",null,null,"ENST00000403263","2024-08-11",23,14,9,22,{"$nulls":3},"-","ENSG00000114933","ENST00000403263","Transcript","frameshift_variant","frameshift_variant;splice_region_variant",{"$nulls":3},"M/X","Atg/tg",null,null,-1,"INO80D","HGNC","HGNC:25997","protein_coding","YES","CCDS46500.1","ENSP00000384198","Q53TQ3.104",null,"UPI0000EE35FC",null,"NM_017759.5","NM_017759.5","P1",{"$nulls":3},"2024-08-11",null,"PANTHER:PTHR16198",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",5,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ASCC3",10973,"BI","GRCh38","chr6",100718133,100718133,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-8536",{"$nulls":9},"Somatic",{"$nulls":8},"c.2021G>A","p.Gly674Asp","p.G674D","ENST00000369162","12/42",129,96,33,100,{"$nulls":3},"T","ENSG00000112249","ENST00000369162","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/D","gGc/gAc",null,null,-1,"ASCC3","HGNC","HGNC:18697","protein_coding","YES","CCDS5046.1","ENSP00000358159","Q8N3C0.172",null,"UPI000014145A","Q8N3C0-1","NM_006828.4","NM_006828.4","P1",null,"tolerated(0.43)","benign(0.197)","12/42",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR52I2",143502,"BI","GRCh38","chr11",4587464,4587464,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CD-8536",{"$nulls":9},"Somatic",{"$nulls":8},"c.652G>T","p.Ala218Ser","p.A218S","ENST00000312614","2024-01-01",282,222,60,349,{"$nulls":3},"T","ENSG00000226288","ENST00000312614","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/S","Gca/Tca",null,null,1,"OR52I2","HGNC","HGNC:15221","protein_coding","YES","CCDS31355.1","ENSP00000308764","Q8NH67.140",null,"UPI00003B2880",null,"NM_001005170.2",{"$nulls":3},"tolerated(0.11)","possibly_damaging(0.874)","2024-01-01",null,"PROSITE_profiles:PS50262;CDD:cd15950;PANTHER:PTHR26450;PANTHER:PTHR26450:SF177;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321;Prints:PR00245",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MBD6",114785,"BI","GRCh38","chr12",57527949,57527949,"+","Frame_Shift_Del","DEL","G","G","-","rs746267361",null,"TCGA-CD-8536",{"$nulls":9},"Somatic",{"$nulls":8},"c.2345del","p.Gly782GlufsTer13","p.G782Efs*13","ENST00000355673","2024-09-13",105,82,22,135,null,null,"MBD6,frameshift_variant,p.G782Efs*13,ENST00000355673,NM_052897.4,c.2345del,HIGH,YES,,,1;MBD6,frameshift_variant,p.G16Efs*13,ENST00000552163,,c.45del,HIGH,,,,1;DCTN2,downstream_gene_variant,,ENST00000434715,NM_006400.4,,MODIFIER,YES,,,-1;DCTN2,downstream_gene_variant,,ENST00000543672,NM_001261412.1&NM_001348066.1&NM_001348065.1,,MODIFIER,,,,-1;MBD6,downstream_gene_variant,,ENST00000546632,,,MODIFIER,,,,1;DCTN2,downstream_gene_variant,,ENST00000546758,,,MODIFIER,,,,-1;MBD6,downstream_gene_variant,,ENST00000546805,,,MODIFIER,,,,1;DCTN2,downstream_gene_variant,,ENST00000548249,NM_001261413.2,,MODIFIER,,,,-1;MBD6,downstream_gene_variant,,ENST00000548887,,,MODIFIER,,,,1;MBD6,downstream_gene_variant,,ENST00000549623,,,MODIFIER,,,,1;DCTN2,downstream_gene_variant,,ENST00000550086,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000550954,,,MODIFIER,,,,-1;MBD6,downstream_gene_variant,,ENST00000551351,,,MODIFIER,,,,1;MBD6,downstream_gene_variant,,ENST00000552255,,,MODIFIER,,,,1;MBD6,downstream_gene_variant,,ENST00000552659,,,MODIFIER,,,,1;DCTN2,downstream_gene_variant,,ENST00000678322,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000678505,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000678653,NM_001348068.1&NM_001348067.1,,MODIFIER,,,,-1;MBD6,downstream_gene_variant,,ENST00000549231,,,MODIFIER,,,,1;MBD6,frameshift_variant,p.G283Efs*13,ENST00000547545,,c.848del,HIGH,,,,1;MBD6,non_coding_transcript_exon_variant,,ENST00000548550,,n.455del,MODIFIER,,,,1;MBD6,upstream_gene_variant,,ENST00000547844,,,MODIFIER,,,,1;MBD6,downstream_gene_variant,,ENST00000549042,,,MODIFIER,,,,1;DCTN2,downstream_gene_variant,,ENST00000549394,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000550201,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000550750,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000550988,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000551142,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000551611,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000551872,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000552390,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000676646,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000676956,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000678247,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000678521,,,MODIFIER,,,,-1;DCTN2,downstream_gene_variant,,ENST00000679307,,,MODIFIER,,,,-1","-","ENSG00000166987","ENST00000355673","Transcript","frameshift_variant","frameshift_variant","2614/4202","2338/3012","780/1003","G/X","Ggg/gg","rs746267361",null,1,"MBD6","HGNC","HGNC:20445","protein_coding","YES","CCDS8944.1","ENSP00000347896","Q96DN6.137","A0A024RBA3.44","UPI000012ED13",null,"NM_052897.4","NM_052897.4","P1",{"$nulls":3},"2024-09-13",null,"PANTHER:PTHR16112;PANTHER:PTHR16112:SF17;Low_complexity_(Seg):seg",{"$nulls":6},0.007977,6.561E-3,1.373E-4,"7.075e-05","7.511e-05",0.0001433,0.000128,0.0001642,1.495E-4,0,2.095E-4,0.007977,"AA","6.796799880248727e-06",0,0,0,0,0,"9.509320079814643e-05",0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,7,null,null,"CTCCCTGGGGGG",{"$nulls":4},"COSM1363350","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
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["OR4N2",390429,"BI","GRCh38","chr14",19827902,19827902,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-EQ-8122",{"$nulls":9},"Somatic",{"$nulls":8},"c.454G>A","p.Gly152Ser","p.G152S","ENST00000315947","2024-01-01",376,340,36,674,{"$nulls":3},"A","ENSG00000176294","ENST00000315947","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/S","Ggt/Agt",null,null,1,"OR4N2","HGNC","HGNC:14742","protein_coding",null,"CCDS32022.1","ENSP00000319601","Q8NGD1.137","A0A126GVT2.31","UPI000004A5DF",{"$nulls":3},"P1",null,"deleterious(0.04)","probably_damaging(0.999)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF634;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15937",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
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["TSHZ2",128553,"BI","GRCh38","chr20",53255521,53255521,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CG-5732",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000371497","2024-02-03",147,136,10,56,{"$nulls":3},"A","ENSG00000182463","ENST00000371497","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/D","gCc/gAc",null,null,1,"TSHZ2","HGNC","HGNC:13010","protein_coding","YES","CCDS33490.1","ENSP00000360552","Q9NRE2.158",null,"UPI0000206747","Q9NRE2-1","NM_173485.6","NM_173485.6","P2",null,"tolerated(0.07)","benign(0.003)","2024-02-03",null,"PANTHER:PTHR12487;PANTHER:PTHR12487:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCCGGCCCTGC",{"$nulls":5},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["EPHB2",2048,"BI","GRCh38","chr1",22913536,22913536,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-VQ-A8P2",{"$nulls":9},"Somatic",{"$nulls":8},"c.2927C>T","p.Ala976Val","p.A976V","ENST00000400191","16/17",42,24,18,36,{"$nulls":3},"T","ENSG00000133216","ENST00000400191","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/V","gCg/gTg",null,null,1,"EPHB2","HGNC","HGNC:3393","protein_coding","YES","CCDS81279.1","ENSP00000383053","P29323.236",null,"UPI0000033EC3","P29323-1","NM_001309193.2",{"$nulls":3},"tolerated(0.39)","benign(0.006)","16/17",{"$nulls":10},"1.193e-05",0,0,0,"5.437e-05",0,"1.758e-05",0,0,"5.437e-05","gnomAD_EAS","6.761330041626934e-06",0,0,0,0,0,0,0,"1.543160033179447e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["YARS1",8565,"BI","GRCh38","chr1",32810600,32810600,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-VQ-A8P2",{"$nulls":9},"Somatic",{"$nulls":8},"c.371A>G","p.Gln124Arg","p.Q124R","ENST00000373477","2024-03-13",67,46,21,70,{"$nulls":3},"C","ENSG00000134684","ENST00000373477","Transcript","missense_variant","missense_variant",{"$nulls":3},"Q/R","cAg/cGg",null,null,-1,"YARS1","HGNC","HGNC:12840","protein_coding","YES","CCDS368.1","ENSP00000362576","P54577.208","A0A0S2Z4R1.29","UPI0000136762",null,"NM_003680.3",null,"P1",null,"deleterious(0)","probably_damaging(0.975)","2024-03-13",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NPR1",4881,"BI","GRCh38","chr1",153686699,153686699,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-VQ-A8P2",{"$nulls":9},"Somatic",{"$nulls":8},"c.1818del",null,null,"ENST00000368680","2024-11-22",82,53,29,58,{"$nulls":3},"-","ENSG00000169418","ENST00000368680","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"D/X","gaC/ga",null,null,1,"NPR1","HGNC","HGNC:7943","protein_coding","YES","CCDS1051.1","ENSP00000357669","P16066.208","A0A140VJE6.28","UPI0000125B3D",null,"NM_000906.4","NM_000906.4","P1",{"$nulls":3},"2024-11-22",null,"Gene3D:1.10.510.10;Pfam:PF07714;PROSITE_profiles:PS50011;PANTHER:PTHR11920;PANTHER:PTHR11920:SF300;Superfamily:SSF56112;CDD:cd14042",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",null,null,0,0,0,0,0,0,null,0,0,null,"nfe",{"$nulls":9},"HIGH",1,"deletion",1,6,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["IER5",51278,"BI","GRCh38","chr1",181089857,181089857,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-VQ-A8P2",{"$nulls":9},"Somatic",{"$nulls":8},"c.955C>A",null,null,"ENST00000367577","2024-01-01",21,15,6,22,{"$nulls":3},"A","ENSG00000162783","ENST00000367577","Transcript","missense_variant","missense_variant",{"$nulls":3},"P/T","Ccc/Acc",null,null,1,"IER5","HGNC","HGNC:5393","protein_coding","YES","CCDS1343.1","ENSP00000356549","Q5VY09.112",null,"UPI000013E1C9",null,"NM_016545.5","NM_016545.5","P1",null,"deleterious(0)","probably_damaging(0.958)","2024-01-01",null,"Pfam:PF05760;PANTHER:PTHR15895;PANTHER:PTHR15895:SF12",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"TGAACCCCTGG",{"$nulls":5},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
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["FBP2",8789,"BI","GRCh38","chr9",94559018,94559018,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A8E7",{"$nulls":9},"Somatic",{"$nulls":8},"c.940C>T",null,null,"ENST00000375337","2024-07-07",97,52,45,74,{"$nulls":3},"A","ENSG00000130957","ENST00000375337","Transcript","stop_gained","stop_gained",{"$nulls":3},"R/*","Cga/Tga",null,null,-1,"FBP2","HGNC","HGNC:3607","protein_coding","YES","CCDS6711.1","ENSP00000364486","O00757.171",null,"UPI000013CDC2",null,"NM_003837.4","NM_003837.4","P1",{"$nulls":3},"2024-07-07",null,null,0.0002,0,0,0,1E-3,0,0.000227,0,"2.386e-05","6.152e-05",0,0,0,0,"4.396e-05",0,0,1E-3,"EUR","3.3819000236690044e-05",0,0,0,0,0,0,0,"6.172459688968956e-05",0,2.08768004085868E-4,"6.172459688968956e-05","nfe",{"$nulls":9},"HIGH",1,"SNV",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCMH1",22955,"BI","GRCh38","chr1",41075326,41075326,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.841C>T","p.Arg281Trp","p.R281W","ENST00000326197","2024-08-15",157,116,40,167,{"$nulls":3},"A","ENSG00000010803","ENST00000326197","Transcript","missense_variant","missense_variant",null,null,"281/660","R/W","Cgg/Tgg",null,null,-1,"SCMH1","HGNC","HGNC:19003","protein_coding","YES","CCDS30688.1","ENSP00000318094","Q96GD3.162",null,"UPI000006FD9B","Q96GD3-1","NM_001031694.2",null,"P4",null,"deleterious(0)","benign(0.007)","2024-08-15",{"$nulls":10},"3.977e-06",0,0,0,"5.44e-05",0,0,0,0,"5.44e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCCCCGCTTCT",{"$nulls":5},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCN1A",6323,"BI","GRCh38","chr2",166048922,166048922,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.992del",null,null,"ENST00000303395","2024-09-28",44,28,16,70,{"$nulls":3},"-","ENSG00000144285","ENST00000303395","Transcript","frameshift_variant","frameshift_variant",null,"992/6030",null,"L/X","tTa/ta",null,null,-1,"SCN1A","HGNC","HGNC:10585","protein_coding",null,"CCDS54413.1","ENSP00000303540","P35498.215",null,"UPI000003C71D","P35498-1","NM_001202435.3;NM_001353948.2;NM_001353961.2",null,"P1",{"$nulls":3},"2024-09-28",{"$nulls":43},"HIGH",null,"deletion",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["VGLL4",9686,"BI","GRCh38","chr3",11558612,11558612,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.817G>A","p.Ala273Thr","p.A273T","ENST00000273038","2024-06-06",93,71,22,152,{"$nulls":3},"T","ENSG00000144560","ENST00000273038","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gcc/Acc",null,null,-1,"VGLL4","HGNC","HGNC:28966","protein_coding",null,"CCDS2606.1","ENSP00000273038",null,"A0A075B6E4.42","UPI000013FB7A",null,"NM_014667.4",{"$nulls":3},"tolerated_low_confidence(0.14)","benign(0)","2024-06-06",{"$nulls":10},"1.629e-05","6.229e-05",0,0,0,0,"2.646e-05",0,0,"6.229e-05","gnomAD_AFR","6.768460025341483e-06","2.435930036881473e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
[null,246269,"BI","GRCh38","chr6",108401997,108401997,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":12},"2024-07-13",21,14,7,45,{"$nulls":3},"A",null,null,"Transcript","missense_variant","missense_variant;splice_region_variant",{"$nulls":3},"D/E","gaT/gaA",null,null,1,null,"HGNC",null,"protein_coding","YES",{"$nulls":8},"P1",null,"deleterious(0.04)","probably_damaging(0.951)","2024-07-13",{"$nulls":35},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF365",22891,"BI","GRCh38","chr10",62399754,62399754,"+","Frame_Shift_Del","DEL","A","A","-","rs751774089",null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.1196del","p.Lys399SerfsTer6","p.K399Sfs*6","ENST00000395254","2024-05-05",50,42,8,66,null,null,"ZNF365,frameshift_variant,p.K399Sfs*6,ENST00000395254,NM_014951.3,c.1196del,HIGH,YES,,,1;ZNF365,intron_variant,,ENST00000395255,NM_199450.2,c.924+11185del,MODIFIER,,,,1;AC024598.1,intron_variant,,ENST00000647733,,c.924+11185del,MODIFIER,YES,,,1;ZNF365,non_coding_transcript_exon_variant,,ENST00000466727,,n.559del,MODIFIER,,,,1","-","ENSG00000138311","ENST00000395254","Transcript","frameshift_variant","frameshift_variant","1292/3988","1189/1224","397/407","K/X","Aaa/aa","rs751774089",null,1,"ZNF365","HGNC","HGNC:18194","protein_coding","YES","CCDS31209.1","ENSP00000378674","Q70YC5.128",null,"UPI000013D112","Q70YC5-1","NM_014951.3","NM_014951.3","P1",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR15739;PANTHER:PTHR15739:SF2",{"$nulls":8},"2.816e-05","6.206e-05",0,0,"5.539e-05",0,"4.453e-05",0,0,"6.206e-05","gnomAD_AFR","3.3889999031089246e-05","4.8811398301040754e-05",0,0,0,0,0,0,"4.6347799070645124e-05",0,0,"4.8811398301040754e-05","afr",{"$nulls":9},"HIGH",1,"deletion",1,7,null,1,"ATGGCTAAAAAA",{"$nulls":4},"COSM1348544","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["DDX54",79039,"BI","GRCh38","chr12",113180980,113180980,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.253G>A","p.Val85Met","p.V85M","ENST00000306014","2024-02-20",107,75,32,164,{"$nulls":3},"T","ENSG00000123064","ENST00000306014","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/M","Gtg/Atg",null,null,-1,"DDX54","HGNC","HGNC:20084","protein_coding",null,"CCDS31907.1","ENSP00000304072","Q8TDD1.172",null,"UPI00003588F0","Q8TDD1-1","NM_024072.4","NM_024072.4","P2",null,"deleterious(0)","probably_damaging(0.942)","2024-02-20",null,"Gene3D:3.40.50.300",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AOC2",314,"BI","GRCh38","chr17",42850322,42850322,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.2249del",null,null,"ENST00000253799","2024-04-04",310,253,56,412,{"$nulls":3},"-","ENSG00000131480","ENST00000253799","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"P/X","Ccc/cc",null,null,1,"AOC2","HGNC","HGNC:549","protein_coding","YES","CCDS11443.1","ENSP00000253799","O75106.169",null,"UPI000013CDF4","O75106-1","NM_009590.4","NM_009590.4","P1",{"$nulls":3},"2024-04-04",{"$nulls":10},"1.999e-05",0,0,0,0,0,"2.652e-05",0,"6.573e-05","6.573e-05","gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,4,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TMEM94",9772,"BI","GRCh38","chr17",75494982,75494982,"+","Frame_Shift_Del","DEL","C","C","-","rs747222326",null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.2682del","p.Ser895ProfsTer13","p.S895Pfs*13","ENST00000314256","20/32",136,106,30,164,null,null,"TMEM94,frameshift_variant,p.S895Pfs*13,ENST00000314256,NM_001321149.2&NM_014738.6&NM_001351202.2,c.2682del,HIGH,,,,1;TMEM94,frameshift_variant,p.S905Pfs*13,ENST00000375248,NM_001321148.2&NM_001351203.2,c.2712del,HIGH,YES,,,1;TMEM94,frameshift_variant,p.S546Pfs*13,ENST00000579208,,c.1635del,HIGH,,,,1;TMEM94,upstream_gene_variant,,ENST00000577245,,,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000577247,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000578853,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000580918,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000581252,,,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000584694,,,MODIFIER,,,,1;MIR6785,upstream_gene_variant,,ENST00000618984,,,MODIFIER,YES,,,1;TMEM94,non_coding_transcript_exon_variant,,ENST00000585105,,n.3451del,MODIFIER,,,,1;TMEM94,non_coding_transcript_exon_variant,,ENST00000581085,,n.3287del,MODIFIER,,,,1;TMEM94,non_coding_transcript_exon_variant,,ENST00000581723,,n.101del,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000577194,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000578624,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000579241,,,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000579898,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000580441,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000580849,,,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000581453,,,MODIFIER,,,,1;TMEM94,upstream_gene_variant,,ENST00000581867,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000582843,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000583071,,,MODIFIER,,,,1;TMEM94,downstream_gene_variant,,ENST00000583296,,,MODIFIER,,,,1","-","ENSG00000177728","ENST00000314256","Transcript","frameshift_variant","frameshift_variant","2899/5412","2676/4071","892/1356","I/X","atC/at","rs747222326",null,1,"TMEM94","HGNC","HGNC:28983","protein_coding",null,"CCDS32732.1","ENSP00000313885","Q12767.142","A0A024R8S6.46","UPI0000139439","Q12767-1","NM_001321149.2;NM_014738.6;NM_001351202.2","NM_014738.6","P4",{"$nulls":3},"20/32",null,"PANTHER:PTHR13219;Superfamily:SSF81665",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",null,"deletion",1,6,null,1,"CGAGATCCCCCC",{"$nulls":4},"COSM300480","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SUSD2",56241,"BI","GRCh38","chr22",24184210,24184210,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4GU",{"$nulls":9},"Somatic",{"$nulls":8},"c.514G>A","p.Ala172Thr","p.A172T","ENST00000358321","2024-04-15",85,62,23,137,{"$nulls":3},"A","ENSG00000099994","ENST00000358321","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/T","Gcc/Acc",null,null,1,"SUSD2","HGNC","HGNC:30667","protein_coding","YES","CCDS13824.1","ENSP00000351075","Q9UGT4.155","A0A140VJW3.33","UPI000006CC92",null,"NM_019601.4","NM_019601.4","P1",null,"tolerated(0.1)","benign(0.041)","2024-04-15",null,"PANTHER:PTHR13802;PANTHER:PTHR13802:SF43",{"$nulls":8},"2.788e-05",0,"5.785e-05",0,0,0,"8.811e-06",0,0.0001307,0.0001307,"gnomAD_SAS","6.758949893992394e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ASCC3",10973,"BI","GRCh38","chr6",100766615,100766615,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CD-5801",{"$nulls":9},"Somatic",{"$nulls":8},"c.1687G>A",null,null,"ENST00000369162","10/42",122,109,13,151,{"$nulls":3},"T","ENSG00000112249","ENST00000369162","Transcript","missense_variant","missense_variant",{"$nulls":3},"E/K","Gaa/Aaa",null,null,-1,"ASCC3","HGNC","HGNC:18697","protein_coding","YES","CCDS5046.1","ENSP00000358159","Q8N3C0.172",null,"UPI000014145A","Q8N3C0-1","NM_006828.4","NM_006828.4","P1",null,"deleterious(0)","probably_damaging(0.999)","10/42",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DHDH",27294,"BI","GRCh38","chr19",48944468,48944468,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-CD-5801",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000221403","2024-06-07",139,122,16,110,{"$nulls":3},"T","ENSG00000104808","ENST00000221403","Transcript","missense_variant","missense_variant",{"$nulls":3},"S/C","Agt/Tgt",null,null,1,"DHDH","HGNC","HGNC:17887","protein_coding","YES","CCDS12741.1","ENSP00000221403","Q9UQ10.131",null,"UPI000006DD01",null,"NM_014475.4","NM_014475.4","P1",null,"tolerated(0.09)","benign(0)","2024-06-07",{"$nulls":35},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["CALD1",800,"BI","GRCh38","chr7",134867750,134867750,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-R5-A7O7",{"$nulls":9},"Somatic",{"$nulls":8},"c.17G>A","p.Arg6His","p.R6H","ENST00000361675","2024-03-15",23,14,8,25,{"$nulls":3},"A","ENSG00000122786","ENST00000361675","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGt/cAt",null,null,1,"CALD1","HGNC","HGNC:1441","protein_coding","YES","CCDS5835.1","ENSP00000354826","Q05682.192",null,"UPI0000140A64","Q05682-1","NM_033138.4","NM_033138.4",null,null,"deleterious(0)","probably_damaging(0.994)","2024-03-15",{"$nulls":10},"4.036e-06",0,0,0,"5.471e-05",0,0,0,0,"5.471e-05","gnomAD_EAS","6.760690212104237e-06",0,0,0,0,0,0,0,"1.5432100553880446e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SP140",11262,"BI","GRCh38","chr2",230294310,230294310,"+","Frame_Shift_Del","DEL","A","A","-","rs746109620",null,"TCGA-R5-A7ZI",{"$nulls":9},"Somatic",{"$nulls":8},"c.2015del","p.Lys672ArgfsTer4","p.K672Rfs*4","ENST00000392045","21/27",89,78,10,67,null,null,"SP140,frameshift_variant,p.K672Rfs*4,ENST00000392045,NM_007237.5,c.2015del,HIGH,YES,,,1;SP140,frameshift_variant,p.K645Rfs*4,ENST00000420434,NM_001278451.1,c.1934del,HIGH,,,,1;SP140,frameshift_variant,p.K612Rfs*4,ENST00000343805,NM_001278452.2,c.1835del,HIGH,,,,1;SP140,frameshift_variant,p.K558Rfs*4,ENST00000417495,NM_001278453.2,c.1673del,HIGH,,,,1;SP140,non_coding_transcript_exon_variant,,ENST00000486750,,n.29del,MODIFIER,,,,1","-","ENSG00000079263","ENST00000392045","Transcript","frameshift_variant","frameshift_variant","2117/3244","2008/2604","670/867","K/X","Aaa/aa","rs746109620",null,1,"SP140","HGNC","HGNC:17133","protein_coding","YES","CCDS42831.1","ENSP00000375899","Q13342.177",null,"UPI0000209746","Q13342-1","NM_007237.5","NM_007237.5","P4",{"$nulls":3},"21/27",null,"Gene3D:3.10.390.10;PANTHER:PTHR46386;PANTHER:PTHR46386:SF2;Low_complexity_(Seg):seg",{"$nulls":8},"4.121e-06",0,0,0,0,"4.702e-05",0,0,0,"4.702e-05","gnomAD_FIN","6.795510216761613e-06",0,0,0,0,0,0,0,"1.548180080135353e-05",0,0,{"$nulls":11},"HIGH",1,"deletion",2,7,null,null,"TACAGGAAAAAA",{"$nulls":4},"COSM293686","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["VPS50",55610,"BI","GRCh38","chr7",93348711,93348711,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-R5-A7ZI",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000305866","24/28",117,81,35,94,{"$nulls":3},"T","ENSG00000004766","ENST00000305866","Transcript","missense_variant","missense_variant;splice_region_variant",{"$nulls":3},"L/F","ttG/ttT",null,null,1,"VPS50","HGNC","HGNC:25956","protein_coding","YES","CCDS43617.1","ENSP00000307666","Q96JG6.128",null,"UPI000015F998","Q96JG6-1","NM_017667.4","NM_017667.4","P1",null,"deleterious(0.01)","probably_damaging(0.995)","24/28",{"$nulls":35},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHPT1",56994,"BI","GRCh38","chr12",101714560,101714560,"+","Frame_Shift_Del","DEL","T","T","-","rs755424899",null,"TCGA-R5-A7ZI",{"$nulls":9},"Somatic",{"$nulls":8},"c.485del","p.Phe162SerfsTer23","p.F162Sfs*23","ENST00000229266","2024-03-09",123,100,22,68,null,null,"CHPT1,frameshift_variant,p.F162Sfs*23,ENST00000549872,,c.485del,HIGH,,,,1;CHPT1,frameshift_variant,p.F162Sfs*23,ENST00000229266,NM_020244.3,c.485del,HIGH,YES,,,1;CHPT1,non_coding_transcript_exon_variant,,ENST00000550385,,n.294del,MODIFIER,,,,1;CHPT1,frameshift_variant,p.F128Sfs*23,ENST00000552215,,c.382del,HIGH,,,,1;CHPT1,frameshift_variant,p.F162Sfs*23,ENST00000549128,,c.485del,HIGH,,,,1;CHPT1,frameshift_variant,p.F162Sfs*23,ENST00000552351,,c.485del,HIGH,,,,1;CHPT1,frameshift_variant,p.F14Sfs*23,ENST00000552329,,c.40del,HIGH,,,,1;CHPT1,downstream_gene_variant,,ENST00000546490,,,MODIFIER,,,,1","-","ENSG00000111666","ENST00000229266","Transcript","frameshift_variant","frameshift_variant","700/1572","478/1221","160/406","F/X","Ttt/tt","rs755424899",null,1,"CHPT1","HGNC","HGNC:17852","protein_coding","YES","CCDS9086.1","ENSP00000229266","Q8WUD6.135",null,"UPI000003ED2B","Q8WUD6-1","NM_020244.3","NM_020244.3","P1",{"$nulls":3},"2024-03-09",null,"Gene3D:1.20.120.1760;PIRSF:PIRSF015665;PANTHER:PTHR10414;PANTHER:PTHR10414:SF32;Transmembrane_helices:TMhelix",{"$nulls":8},"4.031e-06",0,0,0,0,0,"8.902e-06",0,0,"8.902e-06","gnomAD_NFE","6.780399871786358e-06","2.4410499463556334e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,7,null,null,"GACTGGTTTTTT",{"$nulls":4},"COSM1358179","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ZACN",353174,"BI","GRCh38","chr17",76081587,76081588,"+","Frame_Shift_Del","DEL","TT","TT","-","novel",null,"TCGA-R5-A7ZI",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000334586","2024-07-09",211,174,37,184,{"$nulls":3},"-","ENSG00000186919","ENST00000334586","Transcript","frameshift_variant","frameshift_variant",{"$nulls":3},"L/X","TTg/g",null,null,1,"ZACN","HGNC","HGNC:29504","protein_coding","YES","CCDS11740.2","ENSP00000334854","Q401N2.121",null,"UPI0000E5A0B8","Q401N2-1","NM_180990.4","NM_180990.4","P1",{"$nulls":3},"2024-07-09",{"$nulls":43},"HIGH",1,"deletion",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
[null,6757,"BI","GRCh38","chrX",52698049,52698049,"+","Missense_Mutation","SNP","C","C","T","novel",null,"TCGA-R5-A7ZI",{"$nulls":9},"Somatic",{"$nulls":8},"c.506G>A","p.Arg169His","p.R169H",null,"2024-07-08",330,274,56,504,{"$nulls":3},"T",null,null,"Transcript","missense_variant","missense_variant",null,"506/567",null,"R/H","cGt/cAt",null,null,-1,null,"HGNC",null,"protein_coding",{"$nulls":9},"P1",null,"deleterious(0.01)","benign(0.212)","2024-07-08",{"$nulls":43},"MODERATE",null,"SNV",1,null,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SORCS1",114815,"BI","GRCh38","chr10",106709321,106709321,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-D7-A4YY",{"$nulls":9},"Somatic",{"$nulls":8},"c.1045C>T","p.Arg349Ter","p.R349*","ENST00000263054","2024-07-26",47,23,24,59,{"$nulls":3},"A","ENSG00000108018","ENST00000263054","Transcript","stop_gained","stop_gained",{"$nulls":3},"R/*","Cga/Tga",null,null,-1,"SORCS1","HGNC","HGNC:16697","protein_coding","YES","CCDS7559.1","ENSP00000263054","Q8WY21.153",null,"UPI00001AE866","Q8WY21-1","NM_001206570.2;NM_052918.5;NM_001013031.3;NM_001206572.2;NM_001206569.2;NM_001206571.2",null,"P1",{"$nulls":3},"2024-07-26",null,"PANTHER:PTHR12106:SF8;PANTHER:PTHR12106;Gene3D:2.130.10.10;Pfam:PF15902;SMART:SM00602;Superfamily:SSF110296",{"$nulls":8},"3.983e-06",0,0,0,0,0,0,0,"3.277e-05","3.277e-05","gnomAD_SAS",{"$nulls":14},"0;1;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO5B",4645,"BI","GRCh38","chr18",49906620,49906620,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-D7-A4YY",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000285039","19/40",119,95,23,79,{"$nulls":3},"C","ENSG00000167306","ENST00000285039","Transcript","missense_variant","missense_variant",{"$nulls":3},"K/R","aAg/aGg",null,null,-1,"MYO5B","HGNC","HGNC:7603","protein_coding","YES","CCDS42436.1","ENSP00000285039","Q9ULV0.187",null,"UPI00001D7B21","Q9ULV0-1","NM_001080467.3","NM_001080467.3","P1",null,"deleterious(0.03)","benign(0.184)","19/40",{"$nulls":21},"6.761969871149631e-06",0,0,"6.628660048590973e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CLDN19",149461,"BI","GRCh38","chr1",42738564,42738565,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-HU-A4G9",{"$nulls":9},"Somatic",{"$nulls":8},"c.244dup",null,null,"ENST00000296387","2024-02-05",46,26,20,27,{"$nulls":3},"C","ENSG00000164007","ENST00000296387","Transcript","frameshift_variant","frameshift_variant",null,null,"82/224","A/GX","gcc/gGcc",null,null,-1,"CLDN19","HGNC","HGNC:2040","protein_coding","YES","CCDS471.1","ENSP00000296387","Q8N6F1.160",null,"UPI000013E32D","Q8N6F1-1","NM_148960.3","NM_148960.3","P1",{"$nulls":3},"2024-02-05",{"$nulls":43},"HIGH",1,"insertion",2,null,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SHROOM1",134549,"BI","GRCh38","chr5",132823311,132823311,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4G9",{"$nulls":9},"Somatic",{"$nulls":8},"c.2165G>A","p.Arg722His","p.R722H","ENST00000378679","2024-09-10",46,42,4,19,{"$nulls":3},"T","ENSG00000164403","ENST00000378679","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGc/cAc",null,null,-1,"SHROOM1","HGNC","HGNC:24084","protein_coding","YES","CCDS54902.1","ENSP00000367950","Q2M3G4.115",null,"UPI000036FD4D","Q2M3G4-1","NM_001172700.2","NM_001172700.2","P4",null,"deleterious(0)","probably_damaging(0.999)","2024-09-10",null,"Pfam:PF08687;PROSITE_profiles:PS51307;PANTHER:PTHR15012;PANTHER:PTHR15012:SF37;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["CSMD3",114788,"BI","GRCh38","chr8",112265509,112265509,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-HU-A4G9",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000297405","60/71",157,120,37,77,{"$nulls":3},"A","ENSG00000164796","ENST00000297405","Transcript","missense_variant","missense_variant",{"$nulls":3},"Y/F","tAc/tTc",null,null,-1,"CSMD3","HGNC","HGNC:19291","protein_coding","YES","CCDS6315.1","ENSP00000297405","Q7Z407.139",null,"UPI00001E0584","Q7Z407-1","NM_001363185.1;NM_198123.2","NM_198123.2","P1",null,"tolerated(0.66)","benign(0.044)","60/71",null,"Gene3D:2.10.70.10;Pfam:PF00084;PROSITE_profiles:PS50923;PANTHER:PTHR45656;PANTHER:PTHR45656:SF9;SMART:SM00032;Superfamily:SSF57535;CDD:cd00033",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DSC3",1825,"BI","GRCh38","chr18",31006982,31006982,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4G9",{"$nulls":9},"Somatic",{"$nulls":8},"c.1813G>A","p.Gly605Arg","p.G605R","ENST00000360428","2024-12-16",46,26,19,48,{"$nulls":3},"T","ENSG00000134762","ENST00000360428","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/R","Gga/Aga",null,null,-1,"DSC3","HGNC","HGNC:3037","protein_coding","YES","CCDS32810.1","ENSP00000353608","Q14574.180",null,"UPI000004CAAD","Q14574-1","NM_001941.5","NM_001941.5","P1",null,"deleterious(0)","possibly_damaging(0.596)","2024-12-16",{"$nulls":35},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLAMF6",114836,"BI","GRCh38","chr1",160491217,160491217,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CG-5717",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000368057","2024-03-08",178,170,8,168,{"$nulls":3},"T","ENSG00000162739","ENST00000368057","Transcript","missense_variant","missense_variant",{"$nulls":3},"P/H","cCc/cAc",null,null,-1,"SLAMF6","HGNC","HGNC:21392","protein_coding","YES","CCDS53394.1","ENSP00000357036","Q96DU3.165",null,"UPI0000051E34","Q96DU3-1","NM_001184714.2","NM_001184714.2","P4",null,"deleterious(0)","possibly_damaging(0.867)","2024-03-08",{"$nulls":35},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"TCCTGGGGTCC",{"$nulls":5},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["BIRC6",57448,"BI","GRCh38","chr2",32465071,32465077,"+","Frame_Shift_Del","DEL",null,null,"-","novel",null,"TCGA-BR-6707",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000421745",null,22,17,4,33,{"$nulls":3},"-","ENSG00000115760","ENST00000421745","Transcript","frameshift_variant","frameshift_variant",{"$nulls":7},1,"BIRC6","HGNC","HGNC:13516","protein_coding","YES","CCDS33175.2","ENSP00000393596","Q9NR09.180",null,"UPI000159689D",null,"NM_016252.3;NM_001378125.1",null,"P1",{"$nulls":5},"PANTHER:PTHR46116;PANTHER:PTHR46116:SF4",{"$nulls":41},"HIGH",1,"deletion",1,2,null,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["MID1",4281,"BI","GRCh38","chrX",10482520,10482520,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-6705",{"$nulls":9},"Somatic",{"$nulls":8},"c.973C>T",null,null,"ENST00000317552","2024-05-10",188,178,10,234,{"$nulls":3},"A","ENSG00000101871","ENST00000317552","Transcript","missense_variant","missense_variant",{"$nulls":3},"H/Y","Cat/Tat",null,null,-1,"MID1","HGNC","HGNC:7095","protein_coding",null,"CCDS14138.1","ENSP00000312678","O15344.209","A0A024RBV4.52","UPI000012F0E6","O15344-1","NM_033289.2;NM_000381.4","NM_000381.4","P1",null,"tolerated(0.3)","benign(0.003)","2024-05-10",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["RYR2",6262,"BI","GRCh38","chr1",237756322,237756322,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000366574","81/105",43,34,9,121,{"$nulls":3},"G","ENSG00000198626","ENST00000366574","Transcript","missense_variant","missense_variant",{"$nulls":3},"Q/R","cAg/cGg",null,null,1,"RYR2","HGNC","HGNC:10484","protein_coding","YES","CCDS55691.1","ENSP00000355533","Q92736.216",null,"UPI0000DD0308","Q92736-1","NM_001035.3","NM_001035.3","P1",null,"deleterious(0.03)","probably_damaging(0.993)","81/105",null,"PANTHER:PTHR12864;PANTHER:PTHR12864:SF45",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UGT2B17",7367,"BI","GRCh38","chr4",68560577,68560577,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":8},"c.965C>T","p.Ala322Val","p.A322V","ENST00000317746","2024-03-06",257,188,69,805,{"$nulls":3},"A","ENSG00000197888","ENST00000317746","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/V","gCc/gTc",null,null,-1,"UGT2B17","HGNC","HGNC:12547","protein_coding","YES","CCDS3523.1","ENSP00000320401","O75795.151",null,"UPI0000137A9C",null,"NM_001077.3",null,"P1",null,"deleterious(0.03)","possibly_damaging(0.628)","2024-03-06",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GTF2H4",2968,"BI","GRCh38","chr6",30913353,30913353,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":8},"c.1182G>A","p.Trp394Ter","p.W394*","ENST00000259895","13/14",68,52,16,150,{"$nulls":3},"A","ENSG00000213780","ENST00000259895","Transcript","stop_gained","stop_gained",{"$nulls":3},"W/*","tgG/tgA",null,null,1,"GTF2H4","HGNC","HGNC:4658","protein_coding","YES","CCDS34386.1","ENSP00000259895","Q92759.181","A0A1U9X7S4.23","UPI000000D741","Q92759-1","NM_001517.5","NM_001517.5","P1",{"$nulls":3},"13/14",null,"PDB-ENSP_mappings:5ivw.2;PDB-ENSP_mappings:5iy6.2;PDB-ENSP_mappings:5iy7.2;PDB-ENSP_mappings:5iy8.2;PDB-ENSP_mappings:5iy9.2;PDB-ENSP_mappings:5of4.D;PDB-ENSP_mappings:6nmi.D;PDB-ENSP_mappings:6o9l.2;PDB-ENSP_mappings:6o9m.2;PDB-ENSP_mappings:6ro4.C;Pfam:PF18307;TIGRFAM:TIGR00625;Gene3D:3.30.70.2610;PANTHER:PTHR13152",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KMT2C",58508,"BI","GRCh38","chr7",152162610,152162610,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000262189","43/59",153,99,54,206,{"$nulls":3},"A","ENSG00000055609","ENST00000262189","Transcript","missense_variant","missense_variant",{"$nulls":3},"A/V","gCc/gTc",null,null,-1,"KMT2C","HGNC","HGNC:13726","protein_coding","YES","CCDS5931.1","ENSP00000262189","Q8NEZ4.183",null,"UPI0000141B9F","Q8NEZ4-1","NM_170606.3","NM_170606.3","P1",null,"tolerated(0.32)","benign(0)","43/59",null,"PANTHER:PTHR45888;PANTHER:PTHR45888:SF1;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TMEM132A",54972,"BI","GRCh38","chr11",60936254,60936254,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":8},"c.2419G>A","p.Val807Met","p.V807M","ENST00000453848","2024-11-11",61,40,20,138,{"$nulls":3},"A","ENSG00000006118","ENST00000453848","Transcript","missense_variant","missense_variant",{"$nulls":3},"V/M","Gtg/Atg",null,null,1,"TMEM132A","HGNC","HGNC:31092","protein_coding",null,"CCDS44618.1","ENSP00000405823","Q24JP5.111",null,"UPI0000190978","Q24JP5-1","NM_178031.3","NM_178031.3","A2",null,"tolerated(0.11)","benign(0.022)","2024-11-11",{"$nulls":8},0,0.0001163,{"$nulls":9},0.0001163,"EA","6.761049917258788e-06",0,0,0,0,0,0,0,"1.5435400200658478e-05",0,0,{"$nulls":11},"MODERATE",null,"SNV",1,{"$nulls":9},"N","Unknown",{"$nulls":3},"muse;varscan2"]
["FAM155A",0,"BI","GRCh38","chr13",107866349,107866349,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":8},"c.248A>G","p.Gln83Arg","p.Q83R","ENST00000375915","2024-01-03",51,29,22,94,{"$nulls":3},"C","ENSG00000204442","ENST00000375915","Transcript","missense_variant","missense_variant",null,"248/1377","83/458","Q/R","cAg/cGg",null,null,-1,"FAM155A","HGNC","HGNC:33877","protein_coding","YES","CCDS32006.1","ENSP00000365080","B1AL88.91",null,"UPI000045882C",null,"NM_001080396.3","NM_001080396.3","P1",null,"tolerated_low_confidence(0.61)","benign(0)","2024-01-03",{"$nulls":10},"4.168e-06",0,"2.917e-05",0,0,0,0,0,0,"2.917e-05","gnomAD_AMR","6.7991099967912305e-06",0,0,0,0,0,0,0,"1.547169995319564e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HOXB1",3211,"BI","GRCh38","chr17",48530477,48530477,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-BR-8361",{"$nulls":9},"Somatic",{"$nulls":8},"c.428del","p.Pro143LeufsTer41","p.P143Lfs*41","ENST00000239174","2024-01-02",56,32,24,93,null,null,"HOXB1,frameshift_variant,p.P143Lfs*41,ENST00000239174,NM_002144.4,c.428del,HIGH,YES,,,-1;HOXB1,frameshift_variant,p.P143Lfs*41,ENST00000577092,,c.428del,HIGH,,,,-1","-","ENSG00000120094","ENST00000239174","Transcript","frameshift_variant","frameshift_variant","535/2034","428/906","143/301","P/X","cCt/ct",null,null,-1,"HOXB1","HGNC","HGNC:5111","protein_coding","YES","CCDS32675.1","ENSP00000355140","P14653.198",null,"UPI0000163BFF","P14653-1","NM_002144.4","NM_002144.4","P1",{"$nulls":3},"2024-01-02",null,"PANTHER:PTHR45946;PANTHER:PTHR45946:SF5;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"CCATAAGGGGGA",{"$nulls":4},"COSM1383996","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
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["CFAP47",286464,"BI","GRCh38","chrX",35975840,35975842,"+","In_Frame_Del","DEL","TTG","TTG","-","novel",null,"TCGA-BR-4292",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000378653",null,258,186,72,200,{"$nulls":3},"-","ENSG00000165164","ENST00000378653","Transcript","inframe_deletion","inframe_deletion",{"$nulls":7},1,"CFAP47","HGNC","HGNC:26708","protein_coding","YES","CCDS83464.1","ENSP00000367922","Q6ZTR5.128",null,"UPI000596DACD","Q6ZTR5-5","NM_001304548.2","NM_001304548.2","P4",{"$nulls":5},"Gene3D:2.60.40.10;PANTHER:PTHR45912",{"$nulls":41},"MODERATE",1,"deletion",5,4,{"$nulls":8},"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["RTN4IP1",84816,"BI","GRCh38","chr6",106622820,106622820,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-HU-A4G2",{"$nulls":9},"Somatic",{"$nulls":8},"c.424G>T","p.Glu142Ter","p.E142*","ENST00000369063","2024-02-09",20,13,7,30,{"$nulls":3},"A","ENSG00000130347","ENST00000369063","Transcript","stop_gained","stop_gained;splice_region_variant",{"$nulls":3},"E/*","Gag/Tag",null,null,-1,"RTN4IP1","HGNC","HGNC:18647","protein_coding","YES","CCDS5056.1","ENSP00000358059","Q8WWV3.149",null,"UPI000002DFDB","Q8WWV3-1","NM_001318746.1;NM_032730.5","NM_032730.5","P1",{"$nulls":3},"2024-02-09",null,"PDB-ENSP_mappings:2vn8.A;PDB-ENSP_mappings:2vn8.B;CDD:cd08248;PANTHER:PTHR11695;Pfam:PF08240;Gene3D:3.90.180.10;SMART:SM00829;Superfamily:SSF50129",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["COL5A3",50509,"BI","GRCh38","chr19",9986734,9986734,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4G2",{"$nulls":9},"Somatic",{"$nulls":8},"c.2170C>T",null,null,"ENST00000264828","28/67",229,146,83,236,{"$nulls":3},"A","ENSG00000080573","ENST00000264828","Transcript","stop_gained","stop_gained",{"$nulls":3},"Q/*","Cag/Tag",null,null,-1,"COL5A3","HGNC","HGNC:14864","protein_coding","YES","CCDS12222.1","ENSP00000264828","P25940.183",null,"UPI00002032A3",null,"NM_015719.4","NM_015719.4","P1",{"$nulls":3},"28/67",null,"PANTHER:PTHR24023;PANTHER:PTHR24023:SF509",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;varscan2"]
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["ZIC3",7547,"BI","GRCh38","chrX",137567103,137567103,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.412G>A","p.Gly138Arg","p.G138R","ENST00000287538","2024-01-03",26,21,5,28,{"$nulls":3},"A","ENSG00000156925","ENST00000287538","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/R","Ggg/Agg",null,null,1,"ZIC3","HGNC","HGNC:12874","protein_coding","YES","CCDS14663.1","ENSP00000287538","O60481.188",null,"UPI000013C3DD","O60481-1","NM_003413.4","NM_003413.4","P1",null,"deleterious(0)","possibly_damaging(0.69)","2024-01-03",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]
["MAGEC1",9947,"BI","GRCh38","chrX",141907646,141907646,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.2242T>A","p.Ser748Thr","p.S748T","ENST00000285879","2024-04-04",541,462,78,367,{"$nulls":3},"A","ENSG00000155495","ENST00000285879","Transcript","missense_variant","missense_variant",{"$nulls":3},"S/T","Tcc/Acc",null,null,1,"MAGEC1","HGNC","HGNC:6812","protein_coding","YES","CCDS35417.1","ENSP00000285879","O60732.142",null,"UPI000006F2FD","O60732-1","NM_005462.5","NM_005462.5","P4",null,"tolerated_low_confidence(0.39)","benign(0.307)","2024-04-04",null,"PANTHER:PTHR11736;PANTHER:PTHR11736:SF17;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
[null,3149,"BI","GRCh38","chrX",150987817,150987817,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.506C>T","p.Ala169Val","p.A169V",null,"2024-05-05",115,91,23,102,{"$nulls":3},"T",null,null,"Transcript","missense_variant","missense_variant",{"$nulls":3},"A/V","gCa/gTa",null,null,1,null,"HGNC",null,"protein_coding","YES",{"$nulls":8},"P1",null,"tolerated(0.08)","benign(0.003)","2024-05-05",{"$nulls":22},0,0,0,0,0,0,0,"1.970750054169912e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GPR50",9248,"BI","GRCh38","chrX",151180310,151180310,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.727T>G","p.Phe243Val","p.F243V","ENST00000218316","2024-02-02",182,157,25,158,{"$nulls":3},"G","ENSG00000102195","ENST00000218316","Transcript","missense_variant","missense_variant",{"$nulls":3},"F/V","Ttc/Gtc",null,null,1,"GPR50","HGNC","HGNC:4506","protein_coding","YES","CCDS44012.1","ENSP00000218316","Q13585.148",null,"UPI000013C755",null,"NM_004224.3","NM_004224.3","P1",null,"tolerated(0.09)","benign(0.399)","2024-02-02",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CNGA2",1260,"BI","GRCh38","chrX",151743248,151743248,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.745C>T","p.Arg249Cys","p.R249C","ENST00000329903","2024-06-06",223,187,36,212,{"$nulls":3},"T","ENSG00000183862","ENST00000329903","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/C","Cgc/Tgc",null,null,1,"CNGA2","HGNC","HGNC:2149","protein_coding","YES","CCDS14701.1","ENSP00000328478","Q16280.160",null,"UPI000003E7AE",null,"NM_005140.1",null,"P1",null,"deleterious(0)","probably_damaging(0.999)","2024-06-06",null,"PANTHER:PTHR45638;PANTHER:PTHR45638:SF3;Gene3D:1.10.287.70;Pfam:PF00520;Superfamily:SSF81324",{"$nulls":8},"5.451e-06",0,0,0,0,0,0,0,"5.242e-05","5.242e-05","gnomAD_SAS",null,0,0,0,0,0,0,0,null,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PNMA5",114824,"BI","GRCh38","chrX",152990332,152990332,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.1267G>A","p.Gly423Arg","p.G423R","ENST00000361887","2024-02-02",183,154,29,172,{"$nulls":3},"T","ENSG00000198883","ENST00000361887","Transcript","missense_variant","missense_variant",{"$nulls":3},"G/R","Ggg/Agg",null,null,-1,"PNMA5","HGNC","HGNC:18743","protein_coding",null,"CCDS14718.1","ENSP00000354834","Q96PV4.115",null,"UPI0000070F7D",null,"NM_052926.3",null,"P1",null,"tolerated(0.57)","benign(0)","2024-02-02",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,{"$nulls":7},"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PNMA3",29944,"BI","GRCh38","chrX",153057309,153057310,"+","Frame_Shift_Ins","INS","-","-","G",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":11},"ENST00000424805","2024-02-03",134,113,20,140,{"$nulls":3},"G","ENSG00000183837","ENST00000424805","Transcript","frameshift_variant","frameshift_variant;NMD_transcript_variant",null,null,"85/463","K/KX","aag/aaGg",null,null,1,"PNMA3","HGNC","HGNC:18742","nonsense_mediated_decay",null,"CCDS35435.2","ENSP00000390576","Q9UL41.137",null,"UPI0000070F18","Q9UL41-1",{"$nulls":6},"2024-02-03",{"$nulls":8},3.228E-3,0.003394,"4.436e-05",null,0,0,0,0,"8.817e-05",0,0,0.003394,"EA",{"$nulls":22},"HIGH",null,"insertion",5,7,{"$nulls":8},"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["L1CAM",3897,"BI","GRCh38","chrX",153866841,153866841,"+","Frame_Shift_Del","DEL","G","G","-","rs782198738",null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.2239del","p.Gln747ArgfsTer104","p.Q747Rfs*104","ENST00000370060","19/29",70,60,10,77,null,null,"L1CAM,frameshift_variant,p.Q747Rfs*104,ENST00000370060,NM_001278116.2&NM_000425.5,c.2239del,HIGH,YES,,,-1;L1CAM,frameshift_variant,p.Q742Rfs*104,ENST00000361981,NM_001143963.2,c.2224del,HIGH,,,,-1;L1CAM,frameshift_variant,p.Q742Rfs*104,ENST00000370055,,c.2224del,HIGH,,,,-1;L1CAM,frameshift_variant,p.Q747Rfs*104,ENST00000361699,NM_024003.3,c.2239del,HIGH,,,,-1;L1CAM,frameshift_variant,p.Q168Rfs*?,ENST00000455590,,c.501del,HIGH,,,,-1;L1CAM,upstream_gene_variant,,ENST00000370058,,,MODIFIER,,,,-1;L1CAM,downstream_gene_variant,,ENST00000439496,,,MODIFIER,,,,-1;L1CAM,upstream_gene_variant,,ENST00000474853,,,MODIFIER,,,,-1;L1CAM,downstream_gene_variant,,ENST00000484652,,,MODIFIER,,,,-1;L1CAM,upstream_gene_variant,,ENST00000491983,,,MODIFIER,,,,-1;L1CAM,downstream_gene_variant,,ENST00000496122,,,MODIFIER,,,,-1","-","ENSG00000198910","ENST00000370060","Transcript","frameshift_variant","frameshift_variant","2456/5138","2239/3774","747/1257","Q/X","Cag/ag","rs782198738;CM1514439",null,-1,"L1CAM","HGNC","HGNC:6470","protein_coding","YES","CCDS14733.1","ENSP00000359077","P32004.220",null,"UPI0000126E89","P32004-1","NM_001278116.2;NM_000425.5","NM_001278116.2","P3",{"$nulls":3},"19/29",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR12231;PANTHER:PTHR12231:SF241;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":41},"HIGH",1,"deletion",5,null,"0;1",1,"GAACCTGGGGGG",{"$nulls":5},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SLC10A3",8273,"BI","GRCh38","chrX",154488134,154488134,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.807del",null,null,"ENST00000263512","2024-02-02",137,119,18,139,{"$nulls":3},"-","ENSG00000126903","ENST00000263512","Transcript","frameshift_variant","frameshift_variant",null,null,"269/477","G/X","ggG/gg",null,null,-1,"SLC10A3","HGNC","HGNC:22979","protein_coding",null,"CCDS14755.1","ENSP00000263512","P09131.164",null,"UPI0000131021","P09131-1",null,null,"A2",{"$nulls":3},"2024-02-02",{"$nulls":10},"5.496e-06",0,0,0,0,0,"1.237e-05",0,0,"1.237e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",null,"deletion",2,null,"0;1",{"$nulls":7},"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["VAMP7",6845,"BI","GRCh38","chrX",155898122,155898122,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8363",{"$nulls":9},"Somatic",{"$nulls":8},"c.215G>A","p.Arg72His","p.R72H","ENST00000286448","2024-04-08",154,138,15,92,{"$nulls":3},"A","ENSG00000124333","ENST00000286448","Transcript","missense_variant","missense_variant",{"$nulls":3},"R/H","cGt/cAt",null,null,1,"VAMP7","HGNC","HGNC:11486","protein_coding",null,"CCDS14770.4","ENSP00000286448","P51809.197","A0A024R061.50","UPI00000407A7","P51809-1","NM_005638.6","NM_005638.6","P1",null,"deleterious(0.03)","possibly_damaging(0.898)","2024-04-08",{"$nulls":10},"1.198e-05",1.85E-4,0,0,0,0,0,0,0,1.85E-4,"gnomAD_AFR",0.000137586001073941,0.000472377985715866,0,null,0,0,0,0,0,0,0,0.000472377985715866,"afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,{"$nulls":6},"N","Unknown",{"$nulls":3},"muse;mutect2"]

{"sheet":"table S13","index":12,"n_rows":49633,"n_cols":140,"rows_kept":562,"cut":true,"merged":[[0,0,0,7]],"bounds":{"rows_first":250,"rows_last":62,"rows_between":250,"halvings":3}}
["Gene mutations in high-risk groups"]
[]
["Hugo_Symbol","Entrez_Gene_Id","Center","NCBI_Build","Chromosome","Start_Position","End_Position","Strand","Variant_Classification","Variant_Type","Reference_Allele","Tumor_Seq_Allele1","Tumor_Seq_Allele2","dbSNP_RS","dbSNP_Val_Status","Tumor_Sample_Barcode","Matched_Norm_Sample_Barcode","Match_Norm_Seq_Allele1","Match_Norm_Seq_Allele2","Tumor_Validation_Allele1","Tumor_Validation_Allele2","Match_Norm_Validation_Allele1","Match_Norm_Validation_Allele2","Verification_Status","Validation_Status","Mutation_Status","Sequencing_Phase","Sequence_Source","Validation_Method","Score","BAM_File","Sequencer","Tumor_Sample_UUID","Matched_Norm_Sample_UUID","HGVSc","HGVSp","HGVSp_Short","Transcript_ID","Exon_Number","t_depth","t_ref_count","t_alt_count","n_depth","n_ref_count","n_alt_count","all_effects","Allele","Gene","Feature","Feature_type","One_Consequence","Consequence","cDNA_position","CDS_position","Protein_position","Amino_acids","Codons","Existing_variation","DISTANCE","TRANSCRIPT_STRAND","SYMBOL","SYMBOL_SOURCE","HGNC_ID","BIOTYPE","CANONICAL","CCDS","ENSP","SWISSPROT","TREMBL","UNIPARC","UNIPROT_ISOFORM","RefSeq","MANE","APPRIS","FLAGS","SIFT","PolyPhen","EXON","INTRON","DOMAINS","1000G_AF","1000G_AFR_AF","1000G_AMR_AF","1000G_EAS_AF","1000G_EUR_AF","1000G_SAS_AF","ESP_AA_AF","ESP_EA_AF","gnomAD_AF","gnomAD_AFR_AF","gnomAD_AMR_AF","gnomAD_ASJ_AF","gnomAD_EAS_AF","gnomAD_FIN_AF","gnomAD_NFE_AF","gnomAD_OTH_AF","gnomAD_SAS_AF","MAX_AF","MAX_AF_POPS","gnomAD_non_cancer_AF","gnomAD_non_cancer_AFR_AF","gnomAD_non_cancer_AMI_AF","gnomAD_non_cancer_AMR_AF","gnomAD_non_cancer_ASJ_AF","gnomAD_non_cancer_EAS_AF","gnomAD_non_cancer_FIN_AF","gnomAD_non_cancer_MID_AF","gnomAD_non_cancer_NFE_AF","gnomAD_non_cancer_OTH_AF","gnomAD_non_cancer_SAS_AF","gnomAD_non_cancer_MAX_AF_adj","gnomAD_non_cancer_MAX_AF_POPS_adj","CLIN_SIG","SOMATIC","PUBMED","TRANSCRIPTION_FACTORS","MOTIF_NAME","MOTIF_POS","HIGH_INF_POS","MOTIF_SCORE_CHANGE","miRNA","IMPACT","PICK","VARIANT_CLASS","TSL","HGVS_OFFSET","PHENO","GENE_PHENO","CONTEXT","tumor_bam_uuid","normal_bam_uuid","case_id","GDC_FILTER","COSMIC","hotspot","RNA_Support","RNA_depth","RNA_ref_count","RNA_alt_count","callers"]
["CHD5",26038,"BI","GRCh38","chr1",6129060,6129060,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3397C>T","p.Arg1133Cys","p.R1133C","ENST00000262450","23/42",30,25,5,42,null,null,"CHD5,missense_variant,p.R1133C,ENST00000262450,NM_015557.3,c.3397C>T,MODERATE,YES,deleterious(0),probably_damaging(0.91),-1;CHD5,missense_variant,p.R1133C,ENST00000496404,,c.3397C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHD5,missense_variant,p.R516C,ENST00000462991,,c.1546C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),-1;CHD5,synonymous_variant,p.A100=,ENST00000377999,,c.300C>T,LOW,,,,-1;CHD5,upstream_gene_variant,,ENST00000491020,,,MODIFIER,,,,-1","A","ENSG00000116254","ENST00000262450","Transcript","missense_variant","missense_variant","3695/9850","3397/5865","1133/1954","R/C","Cgc/Tgc","COSV52409386",null,-1,"CHD5","HGNC","HGNC:16816","protein_coding","YES","CCDS57.1","ENSP00000262450","Q8TDI0.167",null,"UPI000006CD03",null,"NM_015557.3","NM_015557.3","P1",null,"deleterious(0)","probably_damaging(0.91)","23/42",null,"Gene3D:3.40.50.300;Pfam:PF00271;PROSITE_profiles:PS51194;PANTHER:PTHR45623;PANTHER:PTHR45623:SF6;SMART:SM00490;Superfamily:SSF52540;CDD:cd18793",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGCGCGGCTGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4009182","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPL22",6146,"BI","GRCh38","chr1",6197725,6197725,"+","Frame_Shift_Del","DEL","T","T","-","rs759765382",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.44del","p.Lys15ArgfsTer5","p.K15Rfs*5","ENST00000234875","2024-02-04",46,34,12,60,null,null,"RPL22,frameshift_variant,p.K15Rfs*5,ENST00000234875,NM_000983.4,c.44del,HIGH,YES,,,-1;RPL22,5_prime_UTR_variant,,ENST00000465335,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000497965,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000462296,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000471204,,c.-56del,MODIFIER,,,,-1;RPL22,5_prime_UTR_variant,,ENST00000465387,,c.-56del,MODIFIER,,,,-1;AL031847.1,5_prime_UTR_variant,,ENST00000484532,,c.-56del,MODIFIER,YES,,,-1;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,,n.1839del,MODIFIER,,,,-1","-","ENSG00000116251","ENST00000234875","Transcript","frameshift_variant","frameshift_variant","66/2061","44/387","15/128","K/X","aAg/ag","rs759765382;COSV52379423",null,-1,"RPL22","HGNC","HGNC:10315","protein_coding","YES","CCDS58.1","ENSP00000346088","P35268.194",null,"UPI000015A487",null,"NM_000983.4","NM_000983.4","P1",{"$nulls":3},"2024-02-04",null,"PDB-ENSP_mappings:4ug0.LU;PDB-ENSP_mappings:4v6x.CU;PDB-ENSP_mappings:5aj0.AU;PDB-ENSP_mappings:5lks.LU;PDB-ENSP_mappings:5t2c.O;PDB-ENSP_mappings:6ek0.LU;PDB-ENSP_mappings:6ip5.2O;PDB-ENSP_mappings:6ip6.2O;PDB-ENSP_mappings:6ip8.2O;PDB-ENSP_mappings:6y0g.LU;PDB-ENSP_mappings:6y2l.LU;PDB-ENSP_mappings:6y57.LU;PANTHER:PTHR10064;Low_complexity_(Seg):seg",{"$nulls":8},"2.012e-05",0,0,0,"5.525e-05",0,"3.547e-05",0,0,"5.525e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,null,"0;1",1,"TGCTTCTTTTTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM179404","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PRAMEF14",729528,"BI","GRCh38","chr1",13342932,13342932,"+","Missense_Mutation","SNP","C","C","T","rs555251277",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1021G>A","p.Gly341Arg","p.G341R","ENST00000334600","2024-04-04",203,123,80,450,null,null,"PRAMEF14,missense_variant,p.G341R,ENST00000334600,NM_001024661.2,c.1021G>A,MODERATE,YES,tolerated(0.27),benign(0.379),-1;PRAMEF14,non_coding_transcript_exon_variant,,ENST00000602491,,n.434G>A,MODIFIER,,,,-1","T","ENSG00000204481","ENST00000334600","Transcript","missense_variant","missense_variant","1124/2164","1021/1425","341/474","G/R","Gga/Aga","rs555251277;COSV100577267",null,-1,"PRAMEF14","HGNC","HGNC:13576","protein_coding","YES","CCDS76109.1","ENSP00000334410",null,"A6NFR9.83","UPI000013DEF2",null,"NM_001024661.2","NM_001024661.2","P1",null,"tolerated(0.27)","benign(0.379)","2024-04-04",null,"Gene3D:3.80.10.10;PIRSF:PIRSF038286;PANTHER:PTHR14224;PANTHER:PTHR14224:SF81;Superfamily:SSF52047",0.0002,0,1.4E-3,2E-3,0,0,0.0005435,3.77E-4,"5.566e-05",0.0002255,0.0001168,0,0,0.0001319,"1.444e-05",0,"4.793e-05",2E-3,"EAS","8.203890320146456e-05",0.000244343013036996,0,"6.703309918520972e-05",0,0,"9.620939817978069e-05",0,0,0,0,0.000244343013036996,"afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"AGCTCCGAGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPHB2",2048,"BI","GRCh38","chr1",22865084,22865084,"+","Missense_Mutation","SNP","G","G","A","rs777940741",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1175G>A","p.Arg392His","p.R392H","ENST00000400191","2024-05-17",62,54,8,104,null,null,"EPHB2,missense_variant,p.R392H,ENST00000374630,NM_017449.5&NM_001309192.2,c.1175G>A,MODERATE,,tolerated(0.11),benign(0.052),1;EPHB2,missense_variant,p.R392H,ENST00000400191,NM_001309193.2,c.1175G>A,MODERATE,YES,tolerated(0.06),benign(0.075),1;EPHB2,missense_variant,p.R386H,ENST00000374627,,c.1157G>A,MODERATE,,tolerated(0.12),benign(0.052),1;EPHB2,missense_variant,p.R392H,ENST00000374632,NM_004442.7,c.1175G>A,MODERATE,,tolerated(0.11),benign(0.031),1;EPHB2,missense_variant,p.R392H,ENST00000544305,,c.1175G>A,MODERATE,,tolerated(0.09),benign(0.036),1;MIR4253,upstream_gene_variant,,ENST00000581187,,,MODIFIER,YES,,,-1;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,,n.416G>A,MODIFIER,,,,1;EPHB2,upstream_gene_variant,,ENST00000490436,,,MODIFIER,,,,1","A","ENSG00000133216","ENST00000400191","Transcript","missense_variant","missense_variant","1193/10816","1175/3168","392/1055","R/H","cGc/cAc","rs777940741;COSV65859776",null,1,"EPHB2","HGNC","HGNC:3393","protein_coding","YES","CCDS81279.1","ENSP00000383053","P29323.236",null,"UPI0000033EC3","P29323-1","NM_001309193.2",{"$nulls":3},"tolerated(0.06)","benign(0.075)","2024-05-17",null,"CDD:cd00063;Pfam:PF00041;PIRSF:PIRSF000666;Gene3D:2.60.40.10;SMART:SM00060;Superfamily:SSF49265;PROSITE_profiles:PS50853;PANTHER:PTHR24416;PANTHER:PTHR24416:SF123",{"$nulls":8},"2.399e-05",0,0,0,1.087E-4,0,"3.557e-05",0,0,1.087E-4,"gnomAD_EAS","1.3517899787984788e-05",0,0,0,0,0,0,0,"3.086039941990748e-05",0,0,"3.086039941990748e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GCCACGCATTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM183329;COSM3730796;COSM3730797","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RHD",6007,"BI","GRCh38","chr1",25290664,25290664,"+","Missense_Mutation","SNP","C","C","A","rs868537949",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.359C>A","p.Ala120Asp","p.A120D","ENST00000328664","2024-03-10",97,84,12,180,null,null,"RHD,missense_variant,p.A120D,ENST00000622561,NM_001282872.1,c.359C>A,MODERATE,,deleterious(0),possibly_damaging(0.741),1;RHD,missense_variant,p.A120D,ENST00000328664,NM_016124.4&NM_001282867.1,c.359C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.875),1;RHD,missense_variant,p.A120D,ENST00000423810,,c.359C>A,MODERATE,,deleterious(0),possibly_damaging(0.741),1;RHD,missense_variant,p.A120D,ENST00000342055,NM_001282871.2,c.359C>A,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;RHD,missense_variant,p.A120D,ENST00000568195,NM_001282870.1,c.359C>A,MODERATE,,deleterious(0),probably_damaging(0.962),1;RHD,missense_variant,p.A120D,ENST00000648012,,c.359C>A,MODERATE,,deleterious(0.01),probably_damaging(0.959),1;RHD,missense_variant,p.A120D,ENST00000357542,NM_001282869.2,c.359C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.875),1;RHD,missense_variant,p.A120D,ENST00000417538,NM_001282868.1,c.359C>A,MODERATE,,deleterious(0),possibly_damaging(0.821),1;RHD,missense_variant,p.A120D,ENST00000454452,NM_001127691.3,c.359C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.756),1;RSRP1,intron_variant,,ENST00000561867,,c.-66-43635G>T,MODIFIER,,,,-1;RSRP1,intron_variant,,ENST00000568996,,c.-66-43635G>T,MODIFIER,,,,-1;RHD,non_coding_transcript_exon_variant,,ENST00000423253,,n.359C>A,MODIFIER,,,,1;RHD,non_coding_transcript_exon_variant,,ENST00000564398,,n.514C>A,MODIFIER,,,,1;RSRP1,intron_variant,,ENST00000473314,,c.-66-43635G>T,MODIFIER,,,,-1;SDHDP6,downstream_gene_variant,,ENST00000414693,,,MODIFIER,YES,,,-1","A","ENSG00000187010","ENST00000328664","Transcript","missense_variant","missense_variant","398/2814","359/1254","120/417","A/D","gCt/gAt","rs868537949;COSV59645446",null,1,"RHD","HGNC","HGNC:10009","protein_coding",null,"CCDS262.1","ENSP00000331871","Q02161.175","A0A1B1R0Y1.21","UPI0000246EA2","Q02161-1","NM_016124.4;NM_001282867.1",null,"P1",null,"deleterious(0.01)","possibly_damaging(0.875)","2024-03-10",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR11730:SF100;PANTHER:PTHR11730;Pfam:PF00909;Gene3D:1.10.3430.10;Superfamily:SSF111352;Prints:PR00342",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GAGTGCTTTGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4030870","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["YARS1",8565,"BI","GRCh38","chr1",32779384,32779384,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1474C>T","p.Gln492Ter","p.Q492*","ENST00000373477","2024-12-13",94,88,6,203,null,null,"YARS1,stop_gained,p.Q492*,ENST00000373477,NM_003680.3,c.1474C>T,HIGH,YES,,,-1;YARS1,stop_gained,p.Q443*,ENST00000675785,,c.1327C>T,HIGH,,,,-1;KIAA1522,downstream_gene_variant,,ENST00000373480,NM_001198972.2,,MODIFIER,,,,1;KIAA1522,downstream_gene_variant,,ENST00000373481,NM_001369553.1,,MODIFIER,,,,1;KIAA1522,downstream_gene_variant,,ENST00000401073,NM_020888.3,,MODIFIER,YES,,,1;YARS1,splice_region_variant,,ENST00000676297,,c.*1648C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000674654,,c.*1434C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000469100,,n.1390C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000487404,,n.1784C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000490826,,n.1328C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000674629,,c.*1022C>T,LOW,,,,-1;YARS1,splice_region_variant,,ENST00000478828,,n.941C>T,LOW,,,,-1","A","ENSG00000134684","ENST00000373477","Transcript","stop_gained","stop_gained;splice_region_variant","2383/3238","1474/1587","492/528","Q/*","Cag/Tag","COSV65114108",null,-1,"YARS1","HGNC","HGNC:12840","protein_coding","YES","CCDS368.1","ENSP00000362576","P54577.208","A0A0S2Z4R1.29","UPI0000136762",null,"NM_003680.3",null,"P1",{"$nulls":3},"2024-12-13",null,"PDB-ENSP_mappings:1ntg.A;PDB-ENSP_mappings:1ntg.B;PDB-ENSP_mappings:1ntg.C;PDB-ENSP_mappings:1ntg.D;PANTHER:PTHR11586:SF1;PANTHER:PTHR11586;Gene3D:2.40.50.140;Superfamily:SSF50249",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"TACCTGCAACT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM681090","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DNAI4",79819,"BI","GRCh38","chr1",66826996,66826997,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2162dup","p.Leu721PhefsTer48","p.L721Ffs*48","ENST00000371026","15/17",138,123,15,245,null,null,"DNAI4,frameshift_variant,p.L721Ffs*48,ENST00000371026,NM_024763.5,c.2162dup,HIGH,YES,,,-1;DNAI4,frameshift_variant,p.L454Ffs*48,ENST00000464352,,c.1361dup,HIGH,,,,-1;DNAI4,3_prime_UTR_variant,,ENST00000491297,,c.*2104dup,MODIFIER,,,,-1;AL592161.1,non_coding_transcript_exon_variant,,ENST00000456389,,n.60dup,MODIFIER,YES,,,1","A","ENSG00000152763","ENST00000371026","Transcript","frameshift_variant","frameshift_variant","2187-2188/3817","2162-2163/2547","721/848","L/FX","tta/ttTa",null,null,-1,"DNAI4","HGNC","HGNC:26252","protein_coding","YES","CCDS635.1","ENSP00000360065","Q5VTH9.143",null,"UPI00004561EF","Q5VTH9-1","NM_024763.5","NM_024763.5","P1",{"$nulls":3},"15/17",null,"PROSITE_profiles:PS50294;PROSITE_profiles:PS50082;PANTHER:PTHR12442;PANTHER:PTHR12442:SF12;Gene3D:2.130.10.10;Pfam:PF00400;SMART:SM00320;Superfamily:SSF50978",{"$nulls":41},"HIGH",1,"insertion",1,{"$nulls":3},"CAGCTTAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TNNI3K",51086,"BI","GRCh38","chr1",74492115,74492115,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2200A>C","p.Ser734Arg","p.S734R","ENST00000326637","23/25",230,176,54,379,null,null,"TNNI3K,missense_variant,p.S734R,ENST00000326637,NM_015978.3,c.2200A>C,MODERATE,YES,tolerated_low_confidence(0.13),probably_damaging(0.986),1;FPGT-TNNI3K,missense_variant,p.S848R,ENST00000557284,NM_001112808.2,c.2542A>C,MODERATE,YES,tolerated_low_confidence(0.09),benign(0.149),1;LRRC53,intron_variant,,ENST00000294635,NM_001364666.2&NM_001382280.1,c.-26-8740T>G,MODIFIER,YES,,,-1;FPGT-TNNI3K,3_prime_UTR_variant,,ENST00000648585,,c.*2106A>C,MODIFIER,,,,1","C","ENSG00000116783","ENST00000326637","Transcript","missense_variant","missense_variant","2265/3019","2200/2508","734/835","S/R","Agt/Cgt","COSV53946162",null,1,"TNNI3K","HGNC","HGNC:19661","protein_coding","YES","CCDS664.1","ENSP00000322251","Q59H18.164",null,"UPI0000035B8F","Q59H18-2","NM_015978.3","NM_015978.3","P1",null,"tolerated_low_confidence(0.13)","probably_damaging(0.986)","23/25",null,"Low_complexity_(Seg):seg;PANTHER:PTHR24166:SF43;PANTHER:PTHR24166",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CATCAAGTAAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4009849","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRRC8D",55144,"BI","GRCh38","chr1",89935118,89935118,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2050C>T","p.Arg684Ter","p.R684*","ENST00000337338","2024-03-03",103,97,6,147,null,null,"LRRC8D,stop_gained,p.R684*,ENST00000337338,NM_001134479.2,c.2050C>T,HIGH,YES,,,1;LRRC8D,stop_gained,p.R684*,ENST00000394593,NM_018103.5,c.2050C>T,HIGH,,,,1;LRRC8D,downstream_gene_variant,,ENST00000414841,,,MODIFIER,,,,1;LRRC8D,downstream_gene_variant,,ENST00000441269,,,MODIFIER,,,,1;LRRC8D,downstream_gene_variant,,ENST00000525774,,,MODIFIER,,,,1;LRRC8D,downstream_gene_variant,,ENST00000527156,,,MODIFIER,,,,1;LRRC8D,downstream_gene_variant,,ENST00000532201,,,MODIFIER,,,,1;AC093423.3,downstream_gene_variant,,ENST00000370453,,,MODIFIER,YES,,,1;AL391497.1,upstream_gene_variant,,ENST00000608671,,,MODIFIER,YES,,,1","T","ENSG00000171492","ENST00000337338","Transcript","stop_gained","stop_gained","2457/3950","2050/2577","684/858","R/*","Cga/Tga","COSV61577903",null,1,"LRRC8D","HGNC","HGNC:16992","protein_coding","YES","CCDS726.1","ENSP00000338887","Q7L1W4.151",null,"UPI00001BBFBA",null,"NM_001134479.2","NM_001134479.2","P1",{"$nulls":3},"2024-03-03",null,"PROSITE_profiles:PS51450;PANTHER:PTHR45752;PANTHER:PTHR45752:SF11;Gene3D:3.80.10.10;Pfam:PF13855;SMART:SM00369;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",2,null,1,null,"TAAAACGACTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM302588","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TGFBR3",7049,"BI","GRCh38","chr1",91712253,91712253,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2156A>G","p.Lys719Arg","p.K719R","ENST00000212355","13/17",43,33,10,58,null,null,"TGFBR3,missense_variant,p.K719R,ENST00000212355,NM_003243.5,c.2156A>G,MODERATE,YES,tolerated(0.43),benign(0.003),-1;TGFBR3,missense_variant,p.K718R,ENST00000370399,NM_001195684.1,c.2153A>G,MODERATE,,tolerated(0.43),benign(0.001),-1;TGFBR3,missense_variant,p.K719R,ENST00000525962,,c.2156A>G,MODERATE,,tolerated(0.43),benign(0.003),-1;TGFBR3,missense_variant,p.K718R,ENST00000465892,NM_001195683.2,c.2153A>G,MODERATE,,tolerated(0.43),benign(0.001),-1;TGFBR3,3_prime_UTR_variant,,ENST00000533089,,c.*1874A>G,MODIFIER,,,,-1;TGFBR3,3_prime_UTR_variant,,ENST00000532540,,c.*2103A>G,MODIFIER,,,,-1;TGFBR3,non_coding_transcript_exon_variant,,ENST00000470600,,n.111A>G,MODIFIER,,,,-1","C","ENSG00000069702","ENST00000212355","Transcript","missense_variant","missense_variant","2543/6339","2156/2556","719/851","K/R","aAg/aGg","COSV53022521",null,-1,"TGFBR3","HGNC","HGNC:11774","protein_coding","YES","CCDS30770.1","ENSP00000212355","Q03167.175",null,"UPI000049D997","Q03167-1","NM_003243.5","NM_003243.5","P5",null,"tolerated(0.43)","benign(0.003)","13/17",null,"PROSITE_profiles:PS51034;PANTHER:PTHR14002:SF7;PANTHER:PTHR14002;Gene3D:2.60.40.4100;Pfam:PF00100;SMART:SM00241",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCAACTTCTGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4010577","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PIAS3",10401,"BI","GRCh38","chr1",145856832,145856832,"+","Missense_Mutation","SNP","G","G","A","rs142217740",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.199C>T","p.Arg67Trp","p.R67W","ENST00000393045","2024-02-14",212,201,11,276,null,null,"PIAS3,missense_variant,p.R67W,ENST00000393045,NM_006099.3,c.199C>T,MODERATE,YES,deleterious(0),probably_damaging(0.988),-1;PIAS3,missense_variant,p.R67W,ENST00000369298,,c.199C>T,MODERATE,,deleterious(0),probably_damaging(0.978),-1;PIAS3,missense_variant,p.R58W,ENST00000393046,,c.172C>T,MODERATE,,deleterious(0.01),probably_damaging(0.988),-1;PIAS3,missense_variant,p.R69W,ENST00000463514,,c.205C>T,MODERATE,,deleterious(0),probably_damaging(0.93),-1;PIAS3,non_coding_transcript_exon_variant,,ENST00000369299,,n.290C>T,MODIFIER,,,,-1;PIAS3,non_coding_transcript_exon_variant,,ENST00000498436,,n.244C>T,MODIFIER,,,,-1;PIAS3,non_coding_transcript_exon_variant,,ENST00000484423,,n.258C>T,MODIFIER,,,,-1;PIAS3,upstream_gene_variant,,ENST00000475261,,,MODIFIER,,,,-1","A","ENSG00000131788","ENST00000393045","Transcript","missense_variant","missense_variant","290/2902","199/1887","67/628","R/W","Cgg/Tgg","rs142217740",null,-1,"PIAS3","HGNC","HGNC:16861","protein_coding","YES","CCDS72866.1","ENSP00000376765","Q9Y6X2.181",null,"UPI0000150636",null,"NM_006099.3","NM_006099.3","P1",null,"deleterious(0)","probably_damaging(0.988)","2024-02-14",null,"PANTHER:PTHR10782;PANTHER:PTHR10782:SF11",{"$nulls":8},"9.553e-05","6.152e-05","5.783e-05","9.925e-05",0,0,1.762E-4,0,0,1.762E-4,"gnomAD_NFE",0.000101452998933382,0,0,0,0,0,0,0,0.000216088999877683,0,0.000208419995033182,0.000216088999877683,"nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"CTTCCGGGGAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ADAM15",8751,"BI","GRCh38","chr1",155061440,155061440,"+","Frame_Shift_Del","DEL","C","C","-","rs758144914",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2309del","p.Pro770LeufsTer35","p.P770Lfs*35","ENST00000356955","20/23",45,38,7,48,null,null,"ADAM15,frameshift_variant,p.P769Lfs*35,ENST00000449910,NM_207196.3,c.2306del,HIGH,,,,1;ADAM15,frameshift_variant,p.P770Lfs*35,ENST00000356955,NM_207197.3,c.2309del,HIGH,YES,,,1;ADAM15,frameshift_variant,p.P770Lfs*52,ENST00000355956,NM_207194.3,c.2309del,HIGH,,,,1;ADAM15,frameshift_variant,p.L746Ffs*7,ENST00000368412,NM_001261465.2,c.2236del,HIGH,,,,1;ADAM15,intron_variant,,ENST00000271836,NM_003815.5,c.2277+614del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000359280,NM_207195.3,c.2278-458del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000360674,NM_207191.3,c.2208-799del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000368413,,c.1395+614del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000531455,NM_001261464.2,c.2307+614del,MODIFIER,,,,1;EFNA4,upstream_gene_variant,,ENST00000359751,NM_182690.3,,MODIFIER,,,,1;EFNA4,upstream_gene_variant,,ENST00000368409,NM_005227.3,,MODIFIER,,,,1;EFNA4,upstream_gene_variant,,ENST00000427683,NM_182689.2,,MODIFIER,YES,,,1;ADAM15,downstream_gene_variant,,ENST00000447332,NM_001261466.2,,MODIFIER,,,,1;AL691442.1,upstream_gene_variant,,ENST00000505139,,,MODIFIER,YES,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,,n.2345del,MODIFIER,,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000461234,,n.585del,MODIFIER,,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000462116,,n.429del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000474709,,n.291-799del,MODIFIER,,,,1;ADAM15,downstream_gene_variant,,ENST00000468053,,,MODIFIER,,,,1;ADAM15,downstream_gene_variant,,ENST00000487956,,,MODIFIER,,,,1;ADAM15,frameshift_variant,p.P770Lfs*35,ENST00000526491,,c.2309del,HIGH,,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,,n.3952del,MODIFIER,,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000461564,,n.2439del,MODIFIER,,,,1;ADAM15,non_coding_transcript_exon_variant,,ENST00000498481,,n.592del,MODIFIER,,,,1;ADAM15,intron_variant,,ENST00000529473,,c.2278-458del,MODIFIER,,,,1;ADAM15,upstream_gene_variant,,ENST00000464824,,,MODIFIER,,,,1;ADAM15,downstream_gene_variant,,ENST00000525020,,,MODIFIER,,,,1","-","ENSG00000143537","ENST00000356955","Transcript","frameshift_variant","frameshift_variant","2374/2936","2303/2592","768/863","A/X","gCc/gc","rs758144914",null,1,"ADAM15","HGNC","HGNC:193","protein_coding","YES","CCDS1087.1","ENSP00000349436","Q13444.210",null,"UPI000035CC78","Q13444-1","NM_207197.3","NM_207197.3","P4",{"$nulls":3},"20/23",null,"PANTHER:PTHR11905;PANTHER:PTHR11905:SF130;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"3.203e-05",0,"2.907e-05",0,0,0,0,0,0.0002295,0.0002295,"gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,6,null,null,"TCCCGGCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1334547","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PKLR",5313,"BI","GRCh38","chr1",155295166,155295166,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.644del","p.Gly215AlafsTer12","p.G215Afs*12","ENST00000342741","2024-05-11",90,74,16,143,null,null,"PKLR,frameshift_variant,p.G215Afs*12,ENST00000342741,NM_000298.6,c.644del,HIGH,YES,,,-1;PKLR,frameshift_variant,p.G184Afs*12,ENST00000392414,NM_181871.4,c.551del,HIGH,,,,-1;PKLR,frameshift_variant,p.G151Afs*?,ENST00000434082,,c.452del,HIGH,,,,-1","-","ENSG00000143627","ENST00000342741","Transcript","frameshift_variant","frameshift_variant","687/3047","644/1725","215/574","G/X","gGc/gc","CD090472",null,-1,"PKLR","HGNC","HGNC:9020","protein_coding","YES","CCDS1109.1","ENSP00000339933","P30613.231",null,"UPI0000001292","P30613-1","NM_000298.6","NM_000298.6",{"$nulls":4},"2024-05-11",null,"Gene3D:2.40.33.10;PDB-ENSP_mappings:2vgb.A;PDB-ENSP_mappings:2vgb.B;PDB-ENSP_mappings:2vgb.C;PDB-ENSP_mappings:2vgb.D;PDB-ENSP_mappings:2vgf.A;PDB-ENSP_mappings:2vgf.B;PDB-ENSP_mappings:2vgf.C;PDB-ENSP_mappings:2vgf.D;PDB-ENSP_mappings:2vgg.A;PDB-ENSP_mappings:2vgg.B;PDB-ENSP_mappings:2vgg.C;PDB-ENSP_mappings:2vgg.D;PDB-ENSP_mappings:2vgi.A;PDB-ENSP_mappings:2vgi.B;PDB-ENSP_mappings:2vgi.C;PDB-ENSP_mappings:2vgi.D;Gene3D:3.20.20.60;Gene3D:3.40.1380.20;PDB-ENSP_mappings:4ima.A;PDB-ENSP_mappings:4ima.B;PDB-ENSP_mappings:4ima.C;PDB-ENSP_mappings:4ima.D;PDB-ENSP_mappings:4ip7.A;PDB-ENSP_mappings:4ip7.B;PDB-ENSP_mappings:4ip7.C;PDB-ENSP_mappings:4ip7.D;PDB-ENSP_mappings:6nn4.A;PDB-ENSP_mappings:6nn4.B;PDB-ENSP_mappings:6nn4.C;PDB-ENSP_mappings:6nn4.D;PDB-ENSP_mappings:6nn5.A;PDB-ENSP_mappings:6nn5.B;PDB-ENSP_mappings:6nn5.C;PDB-ENSP_mappings:6nn5.D;PDB-ENSP_mappings:6nn7.A;PDB-ENSP_mappings:6nn7.B;PDB-ENSP_mappings:6nn7.C;PDB-ENSP_mappings:6nn7.D;PDB-ENSP_mappings:6nn7.E;PDB-ENSP_mappings:6nn7.F;PDB-ENSP_mappings:6nn7.G;PDB-ENSP_mappings:6nn7.H;PDB-ENSP_mappings:6nn8.A;PDB-ENSP_mappings:6nn8.B;PDB-ENSP_mappings:6nn8.C;PDB-ENSP_mappings:6nn8.D;PDB-ENSP_mappings:6nn8.E;PDB-ENSP_mappings:6nn8.F;PDB-ENSP_mappings:6nn8.G;PDB-ENSP_mappings:6nn8.H;Pfam:PF00224;PANTHER:PTHR11817;PANTHER:PTHR11817:SF83;Superfamily:SSF50800;Superfamily:SSF51621;TIGRFAM:TIGR01064;CDD:cd00288",{"$nulls":41},"HIGH",1,"deletion",1,null,1,1,"ATGCGGCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM2210460","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TMEM79",84283,"BI","GRCh38","chr1",156285405,156285405,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.179A>G","p.Glu60Gly","p.E60G","ENST00000295694","2024-02-04",58,45,13,102,null,null,"TMEM79,missense_variant,p.E60G,ENST00000295694,,c.179A>G,MODERATE,YES,tolerated(0.08),benign(0.006),1;TMEM79,missense_variant,p.E60G,ENST00000405535,NM_032323.3,c.179A>G,MODERATE,,tolerated(0.08),benign(0.006),1;TMEM79,intron_variant,,ENST00000357501,,c.41+138A>G,MODIFIER,,,,1;TMEM79,intron_variant,,ENST00000456810,,c.41+138A>G,MODIFIER,,,,1;SMG5,upstream_gene_variant,,ENST00000361813,NM_001323617.1&NM_001323615.1&NM_001323614.1&NM_001323616.1&NM_015327.3,,MODIFIER,YES,,,-1;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,,n.315A>G,MODIFIER,,,,1;TMEM79,intron_variant,,ENST00000463670,,n.216-120A>G,MODIFIER,,,,1;TMEM79,upstream_gene_variant,,ENST00000485135,,,MODIFIER,,,,1;GLMP,downstream_gene_variant,,ENST00000497831,,,MODIFIER,,,,-1;GLMP,downstream_gene_variant,,ENST00000461597,,,MODIFIER,,,,-1","G","ENSG00000163472","ENST00000295694","Transcript","missense_variant","missense_variant","340/2191","179/1185","60/394","E/G","gAg/gGg","COSV55293584",null,1,"TMEM79","HGNC","HGNC:28196","protein_coding","YES","CCDS1138.1","ENSP00000295694","Q9BSE2.128",null,"UPI000006F977",{"$nulls":3},"P2",null,"tolerated(0.08)","benign(0.006)","2024-02-04",null,"PANTHER:PTHR31004;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CATAGAGGGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4023231","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ETV3L",440695,"BI","GRCh38","chr1",157099204,157099204,"+","Missense_Mutation","SNP","C","C","T","rs893426995",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.233G>A","p.Arg78His","p.R78H","ENST00000454449","2024-02-05",75,67,8,148,null,null,"ETV3L,missense_variant,p.R78H,ENST00000454449,NM_001004341.2,c.233G>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;ETV3L,missense_variant,p.R78H,ENST00000672100,,c.233G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;ETV3L,missense_variant,p.R78H,ENST00000671942,,c.233G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;ETV3L,missense_variant,p.R78H,ENST00000671886,,c.233G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1","T","ENSG00000253831","ENST00000454449","Transcript","missense_variant","missense_variant","518/1977","233/1086","78/361","R/H","cGc/cAc","rs893426995;COSV71901217",null,-1,"ETV3L","HGNC","HGNC:33834","protein_coding","YES","CCDS30893.1","ENSP00000430271","Q6ZN32.126",null,"UPI000035E7AE",null,"NM_001004341.2","NM_001004341.2","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-02-05",null,"Gene3D:1.10.10.10;Pfam:PF00178;Prints:PR00454;PROSITE_profiles:PS50061;PANTHER:PTHR11849;PANTHER:PTHR11849:SF30;SMART:SM00413;Superfamily:SSF46785",{"$nulls":8},"1.996e-05",0,"5.788e-05",0,0,0,"1.765e-05",0,"3.267e-05","5.788e-05","gnomAD_AMR","2.7050100470660254e-05",0,0,0.000265111011685803,0,0,0,0,0,0,0,0.000265111011685803,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",null,"AGAGGCGGGCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1335043;COSM1335044","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FCRL2",79368,"BI","GRCh38","chr1",157770609,157770609,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.110A>C","p.Lys37Thr","p.K37T","ENST00000361516","2024-03-12",53,45,8,85,null,null,"FCRL2,missense_variant,p.K37T,ENST00000361516,NM_001159488.2&NM_030764.4,c.110A>C,MODERATE,YES,tolerated(0.15),benign(0.044),-1;FCRL2,missense_variant,p.K37T,ENST00000368181,,c.110A>C,MODERATE,,deleterious(0.04),benign(0),-1;FCRL2,upstream_gene_variant,,ENST00000469986,,,MODIFIER,,,,-1;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,,n.169A>C,MODIFIER,,,,-1;FCRL2,upstream_gene_variant,,ENST00000368178,,,MODIFIER,,,,-1","G","ENSG00000132704","ENST00000361516","Transcript","missense_variant","missense_variant","169/2589","110/1527","37/508","K/T","aAa/aCa","COSV63832874",null,-1,"FCRL2","HGNC","HGNC:14875","protein_coding","YES","CCDS1168.1","ENSP00000355157","Q96LA5.154",null,"UPI000006E1F3","Q96LA5-1","NM_001159488.2;NM_030764.4","NM_030764.4","P1",null,"tolerated(0.15)","benign(0.044)","2024-03-12",null,"Gene3D:2.60.40.10;Pfam:PF13895;PANTHER:PTHR11481;PANTHER:PTHR11481:SF94;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGCATTTCAGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4023560","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FCRL6",343413,"BI","GRCh38","chr1",159809682,159809682,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.885G>T","p.Lys295Asn","p.K295N","ENST00000368106","2024-05-10",58,54,4,98,null,null,"FCRL6,missense_variant,p.K302N,ENST00000321935,NM_001284217.2,c.906G>T,MODERATE,,tolerated(0.19),benign(0),1;FCRL6,missense_variant,p.K295N,ENST00000368106,NM_001004310.3,c.885G>T,MODERATE,YES,tolerated(0.18),benign(0),1;FCRL6,missense_variant,p.K295N,ENST00000339348,,c.885G>T,MODERATE,,tolerated(0.22),benign(0.006),1;FCRL6,missense_variant,p.K200N,ENST00000392235,,c.600G>T,MODERATE,,tolerated(0.27),benign(0.001),1;FCRL6,downstream_gene_variant,,ENST00000536257,,,MODIFIER,,,,1;FCRL6,downstream_gene_variant,,ENST00000540741,,,MODIFIER,,,,1;FCRL6,downstream_gene_variant,,ENST00000541729,,,MODIFIER,,,,1","T","ENSG00000181036","ENST00000368106","Transcript","missense_variant","missense_variant;splice_region_variant","950/1966","885/1305","295/434","K/N","aaG/aaT","COSV58940211",null,1,"FCRL6","HGNC","HGNC:31910","protein_coding","YES","CCDS30912.1","ENSP00000357086","Q6DN72.131",null,"UPI0000D62020","Q6DN72-1","NM_001004310.3","NM_001004310.3","P4",null,"tolerated(0.18)","benign(0)","2024-05-10",null,"Gene3D:2.60.40.10;PANTHER:PTHR11481;PANTHER:PTHR11481:SF62;SMART:SM00409",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTGAAGGGTGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4023995","N","Unknown",{"$nulls":3},"muse;mutect2"]
["RGS18",64407,"BI","GRCh38","chr1",192181448,192181448,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.443del","p.Pro148GlnfsTer46","p.P148Qfs*46","ENST00000367460","2024-04-05",68,62,6,103,null,null,"RGS18,frameshift_variant,p.P148Qfs*46,ENST00000367460,NM_130782.3,c.443del,HIGH,YES,,,1;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,,n.602del,MODIFIER,,,,1;AL390957.1,intron_variant,,ENST00000643151,,n.694+2905del,MODIFIER,YES,,,-1","-","ENSG00000150681","ENST00000367460","Transcript","frameshift_variant","frameshift_variant","616/2145","440/708","147/235","A/X","gCc/gc",null,null,1,"RGS18","HGNC","HGNC:14261","protein_coding","YES","CCDS1374.1","ENSP00000356430","Q9NS28.146",null,"UPI0000044571",null,"NM_130782.3","NM_130782.3","P1",{"$nulls":3},"2024-04-05",null,"Gene3D:1.10.167.10;PDB-ENSP_mappings:2dlv.A;PDB-ENSP_mappings:2jm5.A;PDB-ENSP_mappings:2owi.A;Pfam:PF00615;Prints:PR01301;PROSITE_profiles:PS50132;PANTHER:PTHR10845;PANTHER:PTHR10845:SF155;SMART:SM00315;Superfamily:SSF48097;CDD:cd08712",{"$nulls":41},"HIGH",1,"deletion",1,3,null,null,"CTGATGCCCCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["PRELP",5549,"BI","GRCh38","chr1",203486799,203486799,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1067G>A","p.Arg356Gln","p.R356Q","ENST00000343110","2024-03-03",66,60,6,88,null,null,"PRELP,missense_variant,p.R356Q,ENST00000343110,NM_002725.4&NM_201348.2,c.1067G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1","A","ENSG00000188783","ENST00000343110","Transcript","missense_variant","missense_variant","1216/5769","1067/1149","356/382","R/Q","cGg/cAg","COSV58114995",null,1,"PRELP","HGNC","HGNC:9357","protein_coding","YES","CCDS1438.1","ENSP00000343924","P51888.178",null,"UPI000013222E",null,"NM_002725.4;NM_201348.2","NM_002725.4","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-03-03",null,"Gene3D:3.80.10.10;PROSITE_profiles:PS51450;PANTHER:PTHR45712;PANTHER:PTHR45712:SF8;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCTGCGGCTGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM2213722","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR2L13",284521,"BI","GRCh38","chr1",248099917,248099917,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.542C>A","p.Pro181Gln","p.P181Q","ENST00000358120","2024-03-03",212,174,38,312,null,null,"OR2L13,missense_variant,p.P181Q,ENST00000641714,,c.542C>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;OR2L13,missense_variant,p.P181Q,ENST00000358120,NM_175911.3,c.542C>A,MODERATE,,deleterious(0),probably_damaging(1),1;OR2L13,missense_variant,p.P181Q,ENST00000641893,NM_001304535.1,c.542C>A,MODERATE,,deleterious(0),probably_damaging(1),1","A","ENSG00000196071","ENST00000358120","Transcript","missense_variant","missense_variant","756/1942","542/939","181/312","P/Q","cCa/cAa","COSV63549238",null,1,"OR2L13","HGNC","HGNC:19578","protein_coding",null,"CCDS1637.1","ENSP00000350836","Q8N349.149","A0A126GW96.33","UPI0000043517",null,"NM_175911.3",null,"P1",null,"deleterious(0)","probably_damaging(1)","2024-03-03",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF102;Superfamily:SSF81321;CDD:cd15421",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TGTCCCAGCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4030684;COSM4030685","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SOCS5",9655,"BI","GRCh38","chr2",46758658,46758658,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.128A>G","p.Lys43Arg","p.K43R","ENST00000306503","2024-02-02",56,47,9,152,null,null,"SOCS5,missense_variant,p.K43R,ENST00000306503,NM_014011.4,c.128A>G,MODERATE,YES,tolerated_low_confidence(0.23),benign(0),1;SOCS5,missense_variant,p.K43R,ENST00000394861,NM_144949.3,c.128A>G,MODERATE,,tolerated_low_confidence(0.23),benign(0),1;SOCS5,upstream_gene_variant,,ENST00000650009,,,MODIFIER,,,,1;LINC01118,intron_variant,,ENST00000650611,,n.173-38661A>G,MODIFIER,YES,,,1","G","ENSG00000171150","ENST00000306503","Transcript","missense_variant","missense_variant","300/4771","128/1611","43/536","K/R","aAa/aGa","COSV60604031",null,1,"SOCS5","HGNC","HGNC:16852","protein_coding","YES","CCDS1830.1","ENSP00000305133","O75159.172",null,"UPI0000135B69",null,"NM_014011.4",null,"P1",null,"tolerated_low_confidence(0.23)","benign(0)","2024-02-02",null,"PANTHER:PTHR10155;PANTHER:PTHR10155:SF15",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGAGAAAAACA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4094409","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VRK2",7444,"BI","GRCh38","chr2",58139789,58139789,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.980C>T","p.Thr327Ile","p.T327I","ENST00000340157","2024-11-13",68,58,10,95,null,null,"VRK2,missense_variant,p.T327I,ENST00000648897,,c.980C>T,MODERATE,,tolerated(0.06),benign(0.001),1;VRK2,missense_variant,p.T327I,ENST00000435505,NM_001288837.1,c.980C>T,MODERATE,YES,deleterious(0.04),benign(0),1;VRK2,missense_variant,p.T327I,ENST00000417641,NM_001288838.1&NM_001130483.2,c.980C>T,MODERATE,,tolerated(0.1),benign(0),1;VRK2,missense_variant,p.T209I,ENST00000412104,NM_001288839.1&NM_001288836.1,c.626C>T,MODERATE,,deleterious(0.05),benign(0),1;VRK2,missense_variant,p.T327I,ENST00000340157,NM_001130480.2&NM_001130481.2&NM_006296.7,c.980C>T,MODERATE,,deleterious(0.04),benign(0),1;VRK2,missense_variant,p.T304I,ENST00000440705,NM_001130482.2,c.911C>T,MODERATE,,deleterious(0.04),benign(0),1;VRK2,3_prime_UTR_variant,,ENST00000432057,,c.*937C>T,MODIFIER,,,,1","T","ENSG00000028116","ENST00000340157","Transcript","missense_variant","missense_variant","1048/1773","980/1527","327/508","T/I","aCa/aTa","COSV60875153",null,1,"VRK2","HGNC","HGNC:12719","protein_coding",null,"CCDS1859.1","ENSP00000342381","Q86Y07.188",null,"UPI000013D498","Q86Y07-1","NM_001130480.2;NM_001130481.2;NM_006296.7","NM_006296.7","P2",null,"deleterious(0.04)","benign(0)","2024-11-13",null,"PDB-ENSP_mappings:2v62.A;PDB-ENSP_mappings:2v62.B;PDB-ENSP_mappings:5uu1.A;PDB-ENSP_mappings:6ncg.A;PDB-ENSP_mappings:6ncg.B;PANTHER:PTHR11909:SF100;PANTHER:PTHR11909;Gene3D:1.10.510.10",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TTCCACAAAAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4094951","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DCTN1",1639,"BI","GRCh38","chr2",74371110,74371110,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.712C>T","p.Arg238Trp","p.R238W","ENST00000361874","9/32",391,362,28,760,null,null,"DCTN1,missense_variant,p.R238W,ENST00000361874,NM_004082.5,c.712C>T,MODERATE,YES,deleterious(0),probably_damaging(0.985),-1;DCTN1,missense_variant,p.R221W,ENST00000628224,,c.661C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;DCTN1,missense_variant,p.R231W,ENST00000394003,NM_001190837.2,c.691C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;DCTN1,missense_variant,p.R201W,ENST00000409240,NM_001190836.2,c.601C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;DCTN1,missense_variant,p.R221W,ENST00000409868,NM_001378992.1&NM_001378991.1,c.661C>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;DCTN1,missense_variant,p.R104W,ENST00000633691,NM_023019.4,c.310C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;DCTN1,missense_variant,p.R104W,ENST00000409438,NM_001135041.3,c.310C>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;DCTN1,missense_variant,p.R218W,ENST00000409567,NM_001135040.3,c.652C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;DCTN1,downstream_gene_variant,,ENST00000458655,,,MODIFIER,,,,-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000463583,,n.465C>T,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000495643,,,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000497666,,,MODIFIER,,,,-1;DCTN1,missense_variant,p.R201W,ENST00000434055,,c.601C>T,MODERATE,,deleterious(0),probably_damaging(0.993),-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,,n.933C>T,MODIFIER,,,,-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000470351,,n.426C>T,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000462813,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000477966,,,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000495895,,,MODIFIER,,,,-1","A","ENSG00000204843","ENST00000361874","Transcript","missense_variant","missense_variant","1030/4500","712/3837","238/1278","R/W","Cgg/Tgg","COSV62619770",null,-1,"DCTN1","HGNC","HGNC:2711","protein_coding","YES","CCDS1939.1","ENSP00000354791","Q14203.203",null,"UPI0000129A25","Q14203-1","NM_004082.5",null,"P4",null,"deleterious(0)","probably_damaging(0.985)","9/32",null,"Low_complexity_(Seg):seg;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18916;PANTHER:PTHR18916:SF75",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGCCCGTTTCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1409541","N","Unknown",{"$nulls":3},"muse;mutect2"]
["LRRTM1",347730,"BI","GRCh38","chr2",80303243,80303243,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.577G>A","p.Gly193Arg","p.G193R","ENST00000295057","2024-02-02",97,88,9,180,null,null,"LRRTM1,missense_variant,p.G193R,ENST00000295057,NM_178839.5,c.577G>A,MODERATE,YES,deleterious(0),probably_damaging(0.986),-1;LRRTM1,missense_variant,p.G193R,ENST00000409148,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.986),-1;LRRTM1,missense_variant,p.G193R,ENST00000416268,,c.577G>A,MODERATE,,deleterious(0.05),probably_damaging(0.986),-1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.3,c.1057-89968C>T,MODIFIER,YES,,,1;CTNNA2,intron_variant,,ENST00000466387,,c.1057-89968C>T,MODIFIER,,,,1;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3&NM_001282598.1,c.1057-89968C>T,MODIFIER,,,,1;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1,c.1057-89968C>T,MODIFIER,,,,1;LRRTM1,downstream_gene_variant,,ENST00000415098,,,MODIFIER,,,,-1;LRRTM1,downstream_gene_variant,,ENST00000452811,,,MODIFIER,,,,-1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001320810.1&NM_001282600.1,,MODIFIER,,,,1;CTNNA2,upstream_gene_variant,,ENST00000493024,,,MODIFIER,,,,1;LRRTM1,missense_variant,p.G193R,ENST00000433224,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.986),-1;LRRTM1,missense_variant,p.G193R,ENST00000417012,,c.577G>A,MODERATE,,deleterious(0),probably_damaging(0.986),-1","T","ENSG00000162951","ENST00000295057","Transcript","missense_variant","missense_variant","1237/2602","577/1569","193/522","G/R","Gga/Aga","COSV54438961",null,-1,"LRRTM1","HGNC","HGNC:19408","protein_coding","YES","CCDS1966.1","ENSP00000295057","Q86UE6.157",null,"UPI000013E1FE",null,"NM_178839.5","NM_178839.5","P1",null,"deleterious(0)","probably_damaging(0.986)","2024-02-02",null,"Superfamily:SSF52058;SMART:SM00369;Gene3D:3.80.10.10;PANTHER:PTHR24373:SF290;PANTHER:PTHR24373;PROSITE_profiles:PS51450",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTATCCGATGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4095947;COSM4095948","N","Unknown",{"$nulls":3},"muse;mutect2"]
["IGKV1-6",28943,"BI","GRCh38","chr2",88966360,88966360,"+","Missense_Mutation","SNP","T","T","C","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.253A>G","p.Ser85Gly","p.S85G","ENST00000464162","2024-02-02",237,214,22,526,null,null,"IGKV1-6,missense_variant,p.S85G,ENST00000464162,,c.253A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.966),-1","C","ENSG00000239855","ENST00000464162","Transcript","missense_variant","missense_variant","282/380","253/351","85/117","S/G","Agc/Ggc",null,null,-1,"IGKV1-6","HGNC","HGNC:5742","IG_V_gene","YES",null,"ENSP00000420361","A0A0C4DH72.33",null,"UPI0000113B4D",{"$nulls":3},"P1","cds_end_NF","deleterious(0.01)","probably_damaging(0.966)","2024-02-02",{"$nulls":43},"MODERATE",1,"SNV",{"$nulls":4},"GCCGCTGAACC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["GPR45",11250,"BI","GRCh38","chr2",105242711,105242711,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.853G>A","p.Val285Ile","p.V285I","ENST00000258456","2024-01-01",199,148,51,369,null,null,"GPR45,missense_variant,p.V285I,ENST00000258456,NM_007227.3,c.853G>A,MODERATE,YES,tolerated(0.46),benign(0.011),1","A","ENSG00000135973","ENST00000258456","Transcript","missense_variant","missense_variant","969/1725","853/1119","285/372","V/I","Gtc/Atc","COSV51522825",null,1,"GPR45","HGNC","HGNC:4503","protein_coding","YES","CCDS2066.1","ENSP00000258456","Q9Y5Y3.147","B5B0C1.93","UPI000013CFD3",null,"NM_007227.3","NM_007227.3","P1",null,"tolerated(0.46)","benign(0.011)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15403;PANTHER:PTHR24245;PANTHER:PTHR24245:SF4;Gene3D:1.20.1070.10;Pfam:PF00001;Superfamily:SSF81321;Prints:PR00237",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"ACTCCGTCTAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM74808","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CLASP1",23332,"BI","GRCh38","chr2",121367782,121367782,"+","Frame_Shift_Del","DEL","C","C","-","rs749719822",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3692del","p.Gly1231ValfsTer4","p.G1231Vfs*4","ENST00000263710","35/40",62,54,6,87,null,null,"CLASP1,frameshift_variant,p.G1231Vfs*4,ENST00000263710,NM_015282.3,c.3692del,HIGH,YES,,,-1;CLASP1,frameshift_variant,p.G1172Vfs*4,ENST00000397587,NM_001142273.2,c.3515del,HIGH,,,,-1;CLASP1,frameshift_variant,p.G1170Vfs*4,ENST00000541377,NM_001207051.2&NM_001378005.1,c.3509del,HIGH,,,,-1;CLASP1,frameshift_variant,p.G1164Vfs*4,ENST00000409078,NM_001142274.2&NM_001378003.1,c.3491del,HIGH,,,,-1;CLASP1,frameshift_variant,p.G1171Vfs*4,ENST00000455322,NM_001378004.1,c.3512del,HIGH,,,,-1;CLASP1,frameshift_variant,p.G968Vfs*4,ENST00000452274,,c.2902del,HIGH,,,,-1;CLASP1,non_coding_transcript_exon_variant,,ENST00000472776,,n.622del,MODIFIER,,,,-1","-","ENSG00000074054","ENST00000263710","Transcript","frameshift_variant","frameshift_variant","4082/8092","3692/4617","1231/1538","G/X","gGt/gt","rs749719822;COSV99752279",null,-1,"CLASP1","HGNC","HGNC:17088","protein_coding","YES",null,"ENSP00000263710","Q7Z460.173",null,"UPI00001A8BFF","Q7Z460-1","NM_015282.3",null,"A2",{"$nulls":3},"35/40",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR21567:SF28;PANTHER:PTHR21567;Superfamily:SSF48371",{"$nulls":33},"0;1",{"$nulls":7},"HIGH",1,"deletion",5,null,"0;1",null,"TCACTACCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ACVR2A",92,"BI","GRCh38","chr2",147926117,147926117,"+","Frame_Shift_Del","DEL","A","A","-","rs764719749",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1310del","p.Lys437ArgfsTer5","p.K437Rfs*5","ENST00000241416","2024-10-11",106,64,42,164,null,null,"ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000241416,NM_001616.5,c.1310del,HIGH,YES,,,1;ACVR2A,frameshift_variant,p.K329Rfs*5,ENST00000535787,NM_001278580.1,c.986del,HIGH,,,,1;ACVR2A,frameshift_variant,p.K437Rfs*5,ENST00000404590,NM_001278579.2,c.1310del,HIGH,,,,1;ORC4,downstream_gene_variant,,ENST00000264169,NM_181742.3,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000392857,NM_181741.4&NM_002552.5,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000535373,NM_001374270.1&NM_001190879.2,,MODIFIER,YES,,,-1;ORC4,downstream_gene_variant,,ENST00000536575,NM_001374272.1&NM_001190881.2,,MODIFIER,,,,-1;ORC4,downstream_gene_variant,,ENST00000540442,NM_001190882.2,,MODIFIER,,,,-1;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,,n.438del,MODIFIER,,,,1","-","ENSG00000121989","ENST00000241416","Transcript","frameshift_variant","frameshift_variant","1427/5214","1303/1542","435/513","K/X","Aaa/aa","rs764719749;COSV104385546",null,1,"ACVR2A","HGNC","HGNC:173","protein_coding","YES","CCDS33301.1","ENSP00000241416","P27037.208",null,"UPI0000126673","P27037-1","NM_001616.5","NM_001616.5","P1",{"$nulls":3},"2024-10-11",null,"PDB-ENSP_mappings:3q4t.A;PDB-ENSP_mappings:3q4t.B;PDB-ENSP_mappings:3soc.A;PDB-ENSP_mappings:3soc.B;PDB-ENSP_mappings:4asx.A;PDB-ENSP_mappings:4asx.B;CDD:cd14141;Pfam:PF00069;Gene3D:1.10.510.10;SMART:SM00220;Superfamily:SSF56112;PROSITE_profiles:PS50011;PANTHER:PTHR23255:SF64;PANTHER:PTHR23255",{"$nulls":8},"1.215e-05",0,"5.946e-05",0,0,0,"8.926e-06",0,0,"5.946e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",1,"GTGCATAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM252949","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["STAM2",10254,"BI","GRCh38","chr2",152135599,152135599,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.709G>A","p.Ala237Thr","p.A237T","ENST00000263904","2024-08-14",120,114,6,126,null,null,"STAM2,missense_variant,p.A237T,ENST00000263904,NM_005843.6,c.709G>A,MODERATE,YES,tolerated(0.1),benign(0.117),-1;STAM2,non_coding_transcript_exon_variant,,ENST00000482997,,n.796G>A,MODIFIER,,,,-1;STAM2,non_coding_transcript_exon_variant,,ENST00000463854,,n.816G>A,MODIFIER,,,,-1;RPL30P2,downstream_gene_variant,,ENST00000414021,,,MODIFIER,YES,,,1","T","ENSG00000115145","ENST00000263904","Transcript","missense_variant","missense_variant","830/5472","709/1578","237/525","A/T","Gcc/Acc","COSV55730000",null,-1,"STAM2","HGNC","HGNC:11358","protein_coding","YES","CCDS2196.1","ENSP00000263904","O75886.187",null,"UPI0000071984","O75886-1","NM_005843.6","NM_005843.6","P1",null,"tolerated(0.1)","benign(0.117)","2024-08-14",null,"PDB-ENSP_mappings:1x2q.A;PDB-ENSP_mappings:5ixf.A;PROSITE_profiles:PS50002;CDD:cd11963;PANTHER:PTHR45929;PANTHER:PTHR45929:SF1;Pfam:PF00018;Gene3D:2.30.30.40;SMART:SM00326;Superfamily:SSF50044;Prints:PR00499;Prints:PR00452",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATTGGCATCAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4085654","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TTN",7273,"BI","GRCh38","chr2",178543548,178543548,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.91502T>C","p.Val30501Ala","p.V30501A","ENST00000591111","297/313",35,31,4,35,null,null,"TTN,missense_variant,p.V32142A,ENST00000589042,NM_001267550.2,c.96425T>C,MODERATE,YES,,benign(0.058),-1;TTN,missense_variant,p.V30501A,ENST00000591111,,c.91502T>C,MODERATE,,,benign(0.058),-1;TTN,missense_variant,p.V29574A,ENST00000342992,NM_133378.4&NM_001256850.1,c.88721T>C,MODERATE,,,benign(0.026),-1;TTN,missense_variant,p.V23077A,ENST00000460472,NM_003319.4,c.69230T>C,MODERATE,,,benign(0.096),-1;TTN,missense_variant,p.V23269A,ENST00000342175,NM_133437.4,c.69806T>C,MODERATE,,,,-1;TTN,missense_variant,p.V23202A,ENST00000359218,NM_133432.3,c.69605T>C,MODERATE,,,benign(0.096),-1;TTN-AS1,intron_variant,,ENST00000419746,,n.2043+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000438095,,n.194+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.413+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.74+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.345+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.214+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.597+5857A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.74+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590932,,n.615+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.442+7720A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.345+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.433+5857A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.462+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.345+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.49+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.21+5857A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.74+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.49+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.74+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000627564,,n.377+1187A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.49+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.551+14735A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.219+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.118+19912A>G,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.416+19912A>G,MODIFIER,YES,,,1;TTN-AS1,downstream_gene_variant,,ENST00000415561,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000431259,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000450692,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585358,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585487,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000588244,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000588716,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000588804,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589391,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589434,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000590040,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000591466,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592182,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592836,,,MODIFIER,,,,1;AC009948.2,downstream_gene_variant,,ENST00000604692,,,MODIFIER,YES,,,1;TTN-AS1,downstream_gene_variant,,ENST00000620591,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000657210,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000664161,,,MODIFIER,,,,1","G","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","91727/104301","91502/103053","30501/34350","V/A","gTt/gCt","COSV59919975",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.058)","297/313",null,"Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00060;Superfamily:SSF49265;CDD:cd00063",{"$nulls":19},"6.760139967809664e-06",0,0,0,0,0,0,0,0,0,2.08768004085868E-4,{"$nulls":3},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"TCTCAACGATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4087389;COSM4087390;COSM4087391;COSM4087392","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NAB1",4664,"BI","GRCh38","chr2",190659715,190659715,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.543del","p.Ala182ArgfsTer34","p.A182Rfs*34","ENST00000337386","2024-04-10",31,27,4,45,null,null,"NAB1,frameshift_variant,p.A182Rfs*34,ENST00000337386,NM_005966.4,c.543del,HIGH,YES,,,1;NAB1,frameshift_variant,p.A182Rfs*34,ENST00000409641,NM_001321314.1,c.543del,HIGH,,,,1;NAB1,frameshift_variant,p.A182Rfs*34,ENST00000409581,NM_001321313.1&NM_001321312.2,c.543del,HIGH,,,,1;NAB1,downstream_gene_variant,,ENST00000416973,,,MODIFIER,,,,1;NAB1,downstream_gene_variant,,ENST00000423076,,,MODIFIER,,,,1;NAB1,downstream_gene_variant,,ENST00000423376,,,MODIFIER,,,,1;NAB1,downstream_gene_variant,,ENST00000426601,,,MODIFIER,,,,1;NAB1,upstream_gene_variant,,ENST00000434473,NM_001321315.1,,MODIFIER,,,,1;NAB1,downstream_gene_variant,,ENST00000448811,,,MODIFIER,,,,1;NAB1,upstream_gene_variant,,ENST00000484774,,,MODIFIER,,,,1","-","ENSG00000138386","ENST00000337386","Transcript","frameshift_variant","frameshift_variant","1150/4508","539/1464","180/487","S/X","tCc/tc","COSV61608953",null,1,"NAB1","HGNC","HGNC:7626","protein_coding","YES","CCDS2307.1","ENSP00000336894","Q13506.161",null,"UPI0000001C43","Q13506-1","NM_005966.4","NM_005966.4","P4",{"$nulls":3},"2024-04-10",null,"PANTHER:PTHR12623;PANTHER:PTHR12623:SF9;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,4,1,null,"TGGGCTCCCCCG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1404117","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["C2orf69",205327,"BI","GRCh38","chr2",199925630,199925630,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.902G>A","p.Gly301Asp","p.G301D","ENST00000319974","2024-02-02",69,64,5,109,null,null,"C2orf69,missense_variant,p.G301D,ENST00000319974,NM_153689.6,c.902G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;TYW5,downstream_gene_variant,,ENST00000354611,NM_001039693.3,,MODIFIER,YES,,,-1;C2orf69,intron_variant,,ENST00000491721,,n.466+13859G>A,MODIFIER,,,,1;TYW5,downstream_gene_variant,,ENST00000483328,,,MODIFIER,,,,-1","A","ENSG00000178074","ENST00000319974","Transcript","missense_variant","missense_variant","1048/3691","902/1158","301/385","G/D","gGt/gAt","COSV60665995",null,1,"C2orf69","HGNC","HGNC:26799","protein_coding","YES","CCDS46482.1","ENSP00000312770","Q8N8R5.104",null,"UPI0000073170",null,"NM_153689.6","NM_153689.6","P1",null,"deleterious(0)","probably_damaging(1)","2024-02-02",null,"Pfam:PF10561;PANTHER:PTHR31296",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGATGGTGGTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4090049","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CPO",130749,"BI","GRCh38","chr2",206955464,206955464,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.167T>A","p.Ile56Asn","p.I56N","ENST00000272852","2024-03-09",94,84,10,124,null,null,"CPO,missense_variant,p.I56N,ENST00000272852,NM_173077.3,c.167T>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),1","A","ENSG00000144410","ENST00000272852","Transcript","missense_variant","missense_variant;splice_region_variant","249/1245","167/1125","56/374","I/N","aTc/aAc","COSV55938902",null,1,"CPO","HGNC","HGNC:21011","protein_coding","YES","CCDS2372.1","ENSP00000272852","Q8IVL8.128",null,"UPI0000047AEF",null,"NM_173077.3","NM_173077.3","P1",null,"deleterious(0)","probably_damaging(0.995)","2024-03-09",null,"Gene3D:3.40.630.10;PDB-ENSP_mappings:5mrv.A;PDB-ENSP_mappings:5mrv.B;Pfam:PF00246;PANTHER:PTHR11705;PANTHER:PTHR11705:SF19;SMART:SM00631;Superfamily:SSF53187;CDD:cd06247",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCAGATCTATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4090612","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CNTN4",152330,"BI","GRCh38","chr3",2925668,2925668,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1247T>C","p.Val416Ala","p.V416A","ENST00000397461","2024-12-24",122,109,13,235,null,null,"CNTN4,missense_variant,p.V416A,ENST00000397461,NM_001206955.1,c.1247T>C,MODERATE,YES,tolerated(0.23),benign(0.027),1;CNTN4,missense_variant,p.V416A,ENST00000418658,NM_001350095.1&NM_175607.3,c.1247T>C,MODERATE,,tolerated(0.23),benign(0.027),1;CNTN4,missense_variant,p.V416A,ENST00000427331,,c.1247T>C,MODERATE,,tolerated(0.23),benign(0.027),1;CNTN4,missense_variant,p.V88A,ENST00000397459,NM_175613.2&NM_001206956.1,c.263T>C,MODERATE,,tolerated(0.33),benign(0.027),1;CNTN4,missense_variant,p.V94A,ENST00000473845,,c.281T>C,MODERATE,,tolerated(0.31),benign(0.253),1;CNTN4,non_coding_transcript_exon_variant,,ENST00000475817,,n.278T>C,MODIFIER,,,,1;CNTN4,3_prime_UTR_variant,,ENST00000427741,,c.*445T>C,MODIFIER,,,,1;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,,n.1444T>C,MODIFIER,,,,1;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,,n.1683T>C,MODIFIER,,,,1","C","ENSG00000144619","ENST00000397461","Transcript","missense_variant","missense_variant","1631/5198","1247/3081","416/1026","V/A","gTa/gCa","COSV61869120",null,1,"CNTN4","HGNC","HGNC:2174","protein_coding","YES","CCDS43041.1","ENSP00000380602","Q8IWV2.149",null,"UPI000007446C","Q8IWV2-1","NM_001206955.1",null,"P1",null,"tolerated(0.23)","benign(0.027)","2024-12-24",null,"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR12231;PANTHER:PTHR12231:SF229;SMART:SM00409;Superfamily:SSF48726",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"AAGAGTAACTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4116771;COSM4116772","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OSBPL10",114884,"BI","GRCh38","chr3",31830170,31830170,"+","Missense_Mutation","SNP","G","G","A","rs990677677",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.599C>T","p.Ala200Val","p.A200V","ENST00000396556","2024-04-12",56,52,4,112,null,null,"OSBPL10,missense_variant,p.A200V,ENST00000396556,NM_017784.4,c.599C>T,MODERATE,YES,tolerated(0.37),benign(0.075),-1;OSBPL10,intron_variant,,ENST00000438237,NM_001174060.1,c.537+46263C>T,MODIFIER,,,,-1;OSBPL10,intron_variant,,ENST00000673388,,c.117+21225C>T,MODIFIER,,,,-1;OSBPL10,upstream_gene_variant,,ENST00000428241,,,MODIFIER,,,,-1;OSBPL10,upstream_gene_variant,,ENST00000429492,,,MODIFIER,,,,-1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000467647,,n.11C>T,MODIFIER,,,,-1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000466604,,n.512C>T,MODIFIER,,,,-1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000467955,,n.432C>T,MODIFIER,,,,-1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000485205,,n.291C>T,MODIFIER,,,,-1;OSBPL10,intron_variant,,ENST00000480671,,n.304+46263C>T,MODIFIER,,,,-1","A","ENSG00000144645","ENST00000396556","Transcript","missense_variant","missense_variant","722/6600","599/2295","200/764","A/V","gCg/gTg","rs990677677;COSV104429801;COSV67335639",null,-1,"OSBPL10","HGNC","HGNC:16395","protein_coding","YES","CCDS2651.1","ENSP00000379804","Q9BXB5.144",null,"UPI0000130E9B","Q9BXB5-1","NM_017784.4",null,"P2",null,"tolerated(0.37)","benign(0.075)","2024-04-12",null,"PANTHER:PTHR10972;PANTHER:PTHR10972:SF47",{"$nulls":8},"1.194e-05",0,"2.894e-05",0,0,0,"1.759e-05",0,0,"2.894e-05","gnomAD_AMR","6.760139967809664e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"GAGACGCAGAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4640517;COSM4640518","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF621",285268,"BI","GRCh38","chr3",40532543,40532543,"+","Missense_Mutation","SNP","C","C","T","rs376957315",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.773C>T","p.Thr258Met","p.T258M","ENST00000339296","2024-05-05",68,55,12,143,null,null,"ZNF621,missense_variant,p.T258M,ENST00000339296,NM_198484.5&NM_001098414.3,c.773C>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),1;ZNF621,missense_variant,p.T147M,ENST00000431278,,c.440C>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;ZNF621,missense_variant,p.T258M,ENST00000403205,,c.773C>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;ZNF621,intron_variant,,ENST00000310898,NM_001287245.1,c.436+337C>T,MODIFIER,,,,1;ZNF621,downstream_gene_variant,,ENST00000453351,,,MODIFIER,,,,1;ZNF621,intron_variant,,ENST00000490457,,n.613+2227C>T,MODIFIER,,,,1;ZNF621,downstream_gene_variant,,ENST00000462161,,,MODIFIER,,,,1;ZNF621,non_coding_transcript_exon_variant,,ENST00000492098,,n.780C>T,MODIFIER,,,,1","T","ENSG00000172888","ENST00000339296","Transcript","missense_variant","missense_variant","1150/8389","773/1320","258/439","T/M","aCg/aTg","rs376957315",null,1,"ZNF621","HGNC","HGNC:24787","protein_coding","YES","CCDS2693.1","ENSP00000340841","Q6ZSS3.144",null,"UPI00001C0DC3","Q6ZSS3-1","NM_198484.5;NM_001098414.3","NM_198484.5","P1",null,"deleterious(0)","probably_damaging(0.99)","2024-05-05",null,"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR23226;PANTHER:PTHR23226:SF155;Superfamily:SSF57667",{"$nulls":6},0,0.0001163,"1.195e-05","6.224e-05",0,0,0,0,"1.76e-05",0,0,0.0001163,"EA","6.766269962099614e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,{"$nulls":11},"MODERATE",1,"SNV",1,{"$nulls":3},"ACACACGGGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4117537","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PBRM1",55193,"BI","GRCh38","chr3",52576679,52576679,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3553C>T","p.Arg1185Ter","p.R1185*","ENST00000296302","22/30",51,38,13,73,null,null,"PBRM1,stop_gained,p.R1153*,ENST00000356770,,c.3457C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1185*,ENST00000296302,NM_001366071.2,c.3553C>T,HIGH,YES,,,-1;PBRM1,stop_gained,p.R1160*,ENST00000394830,NM_018313.5,c.3478C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1200*,ENST00000409114,,c.3598C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1185*,ENST00000409057,NM_001350075.2,c.3553C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1160*,ENST00000410007,,c.3478C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1200*,ENST00000409767,NM_001366076.2&NM_001366075.2&NM_001366070.2&NM_001350076.2&NM_001350078.2&NM_001350074.2&NM_001350077.2,c.3598C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1185*,ENST00000337303,NM_001366073.2&NM_001366072.2&NM_181042.5&NM_001366074.2&NM_001350079.2,c.3553C>T,HIGH,,,,-1;PBRM1,stop_gained,p.R1184*,ENST00000423351,,c.3550C>T,HIGH,,,,-1;SMIM4,intron_variant,,ENST00000476842,,c.152-2339G>A,MODIFIER,,,,1;PBRM1,3_prime_UTR_variant,,ENST00000412587,,c.*767C>T,MODIFIER,,,,-1","A","ENSG00000163939","ENST00000296302","Transcript","stop_gained","stop_gained","3555/5145","3553/5070","1185/1689","R/*","Cga/Tga","COSV56264314",null,-1,"PBRM1","HGNC","HGNC:30064","protein_coding","YES",null,"ENSP00000296302","Q86U86.168",null,"UPI000019A59F","Q86U86-1","NM_001366071.2",null,"P4",{"$nulls":3},"22/30",null,"Gene3D:2.30.30.490;Pfam:PF01426;PROSITE_profiles:PS51038;PANTHER:PTHR16062;PANTHER:PTHR16062:SF15;SMART:SM00439;CDD:cd04717",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"ATCTCGAACCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM480322;COSM480323;COSM52838","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HESX1",8820,"BI","GRCh38","chr3",57199897,57199897,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.22G>T","p.Gly8Cys","p.G8C","ENST00000295934","2024-01-04",86,81,5,164,null,null,"HESX1,missense_variant,p.G8C,ENST00000647958,NM_001376059.1&NM_001376058.1&NM_001376060.1&NM_001376061.1,c.22G>T,MODERATE,YES,tolerated(0.07),possibly_damaging(0.751),-1;HESX1,missense_variant,p.G8C,ENST00000295934,NM_003865.3,c.22G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.751),-1;HESX1,missense_variant,p.G8C,ENST00000473921,,c.22G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.847),-1;HESX1,missense_variant,p.G8C,ENST00000495160,,c.22G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.751),-1","A","ENSG00000163666","ENST00000295934","Transcript","missense_variant","missense_variant","82/977","22/558","8/185","G/C","Ggc/Tgc","COSV99907679",null,-1,"HESX1","HGNC","HGNC:4877","protein_coding",null,"CCDS2881.1","ENSP00000295934","Q9UBX0.173","A1LQR0.3","UPI000012C61F",null,"NM_003865.3","NM_003865.3","P1",null,"tolerated(0.07)","possibly_damaging(0.751)","2024-01-04",null,"PANTHER:PTHR46966",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AGCGCCTTCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ABHD6",57406,"BI","GRCh38","chr3",58274693,58274693,"+","Missense_Mutation","SNP","C","C","T","rs34260150",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.559C>T","p.Arg187Trp","p.R187W","ENST00000295962","2024-06-09",101,90,11,128,null,null,"ABHD6,missense_variant,p.R187W,ENST00000295962,NM_020676.6,c.559C>T,MODERATE,YES,tolerated(0.23),possibly_damaging(0.498),1;ABHD6,missense_variant,p.R187W,ENST00000478253,NM_001320126.2,c.559C>T,MODERATE,,tolerated(0.23),possibly_damaging(0.498),1;ABHD6,missense_variant,p.R187W,ENST00000463756,,c.559C>T,MODERATE,,tolerated(0.21),possibly_damaging(0.498),1;ABHD6,downstream_gene_variant,,ENST00000485900,,,MODIFIER,,,,1","T","ENSG00000163686","ENST00000295962","Transcript","missense_variant","missense_variant","969/2393","559/1014","187/337","R/W","Cgg/Tgg","rs34260150",null,1,"ABHD6","HGNC","HGNC:21398","protein_coding","YES","CCDS2887.1","ENSP00000295962","Q9BV23.142","A0A024R323.50","UPI000003AF8F",null,"NM_020676.6",null,"P1",null,"tolerated(0.23)","possibly_damaging(0.498)","2024-06-09",null,"PANTHER:PTHR43798:SF15;PANTHER:PTHR43798;Gene3D:3.40.50.1820;Pfam:PF00561;Superfamily:SSF53474",{"$nulls":8},"4.777e-05",0,0,0,0,0,"5.285e-05",0.0008149,"3.267e-05",0.0008149,"gnomAD_OTH","3.379199915798381e-05","2.4310800654347986e-05",0,"6.62339007249102e-05",0,0,0,0,"4.628489841707051e-05",0,0,"4.628489841707051e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TACAACGGCTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4119650","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FRG2C",100288801,"BI","GRCh38","chr3",75664537,75664537,"+","Missense_Mutation","SNP","A","A","G","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.158A>G","p.Glu53Gly","p.E53G","ENST00000308062","2024-01-04",259,239,20,422,null,null,"FRG2C,missense_variant,p.E53G,ENST00000308062,NM_001124759.3,c.158A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.969),1;FRG2C,missense_variant,p.E53G,ENST00000464571,,c.158A>G,MODERATE,,deleterious(0),probably_damaging(0.969),1;RPL23AP49,intron_variant,,ENST00000638439,,n.137+5483T>C,MODIFIER,YES,,,-1;DUX4L26,upstream_gene_variant,,ENST00000489078,,,MODIFIER,YES,,,1","G","ENSG00000172969","ENST00000308062","Transcript","missense_variant","missense_variant","208/2078","158/849","53/282","E/G","gAg/gGg",null,null,1,"FRG2C","HGNC","HGNC:33626","protein_coding","YES","CCDS43108.1","ENSP00000312299","A6NGY1.94",null,"UPI0000160BC9",null,"NM_001124759.3",null,"P4",null,"deleterious(0.01)","probably_damaging(0.969)","2024-01-04",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR31883;PANTHER:PTHR31883:SF6;Prints:PR02074",{"$nulls":41},"MODERATE",1,"SNV",1,{"$nulls":3},"CAGTGAGAAGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["TOMM70",9868,"BI","GRCh38","chr3",100375115,100375115,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1130A>T","p.Tyr377Phe","p.Y377F","ENST00000284320","2024-07-12",130,120,9,210,null,null,"TOMM70,missense_variant,p.Y377F,ENST00000284320,NM_014820.5,c.1130A>T,MODERATE,YES,tolerated(0.6),benign(0.219),-1;TOMM70,upstream_gene_variant,,ENST00000483945,,,MODIFIER,,,,-1;TOMM70,downstream_gene_variant,,ENST00000492171,,,MODIFIER,,,,-1","A","ENSG00000154174","ENST00000284320","Transcript","missense_variant","missense_variant","1270/4100","1130/1827","377/608","Y/F","tAc/tTc","COSV52522486",null,-1,"TOMM70","HGNC","HGNC:11985","protein_coding","YES","CCDS33807.1","ENSP00000284320","O94826.182",null,"UPI0000000C55",null,"NM_014820.5","NM_014820.5","P1",null,"tolerated(0.6)","benign(0.219)","2024-07-12",null,"PROSITE_profiles:PS50005;PROSITE_profiles:PS50293;PANTHER:PTHR44858:SF4;PANTHER:PTHR44858;Gene3D:1.25.40.10;SMART:SM00028;Superfamily:SSF48452",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCATGTACATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4111768","N","Unknown",{"$nulls":3},"muse;mutect2"]
["POLQ",10721,"BI","GRCh38","chr3",121488642,121488642,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.4289del","p.Leu1430Ter","p.L1430*","ENST00000264233","16/30",64,53,11,76,null,null,"POLQ,frameshift_variant,p.L1565*,ENST00000621776,,c.4694del,HIGH,YES,,,-1;POLQ,frameshift_variant,p.L1430*,ENST00000264233,NM_199420.4,c.4289del,HIGH,,,,-1","-","ENSG00000051341","ENST00000264233","Transcript","frameshift_variant","frameshift_variant","4400/8757","4289/7773","1430/2590","L/X","tTa/ta",null,null,-1,"POLQ","HGNC","HGNC:9186","protein_coding",null,"CCDS33833.1","ENSP00000264233","O75417.149",null,"UPI0000D61B5F","O75417-1","NM_199420.4","NM_199420.4","A2",{"$nulls":3},"16/30",null,"PANTHER:PTHR10133;PANTHER:PTHR10133:SF42",{"$nulls":41},"HIGH",null,"deletion",1,null,null,1,"TTTTTTAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3120629","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SEMA5B",54437,"BI","GRCh38","chr3",122913901,122913901,"+","Missense_Mutation","SNP","G","G","A","rs767647903",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2089C>T","p.Arg697Cys","p.R697C","ENST00000357599","15/23",80,72,8,156,null,null,"SEMA5B,missense_variant,p.R697C,ENST00000616742,NM_001256346.1,c.2089C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SEMA5B,missense_variant,p.R697C,ENST00000357599,NM_001031702.4,c.2089C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SEMA5B,missense_variant,p.R639C,ENST00000648990,,c.1915C>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;SEMA5B,missense_variant,p.R663C,ENST00000650207,,c.1987C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SEMA5B,missense_variant,p.R751C,ENST00000451055,NM_001256347.1,c.2251C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;SEMA5B,missense_variant,p.R639C,ENST00000195173,NM_001256348.1,c.1915C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;SEMA5B,missense_variant,p.R697C,ENST00000393583,,c.2089C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SEMA5B,upstream_gene_variant,,ENST00000451541,,,MODIFIER,,,,-1;SEMA5B,missense_variant,p.R697C,ENST00000475244,,c.2089C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1","A","ENSG00000082684","ENST00000357599","Transcript","missense_variant","missense_variant","2427/4855","2089/3456","697/1151","R/C","Cgc/Tgc","rs767647903;COSV52091368",null,-1,"SEMA5B","HGNC","HGNC:10737","protein_coding",null,"CCDS35491.1","ENSP00000350215","Q9P283.163",null,"UPI000014082F","Q9P283-1","NM_001031702.4","NM_001031702.4","A2",null,"deleterious(0)","probably_damaging(0.999)","15/23",null,"PROSITE_profiles:PS50092;PANTHER:PTHR11036:SF39;PANTHER:PTHR11036;Gene3D:2.20.100.10;Pfam:PF00090;SMART:SM00209;Superfamily:SSF82895",{"$nulls":8},"4.039e-06",0,"2.901e-05",0,0,0,0,0,0,"2.901e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GTGGCGGGGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4112831;COSM4112832;COSM4112833","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CPNE4",131034,"BI","GRCh38","chr3",131723562,131723562,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.244G>A","p.Asp82Asn","p.D82N","ENST00000429747","2024-03-16",159,146,12,384,null,null,"CPNE4,missense_variant,p.D82N,ENST00000512055,,c.244G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.835),-1;CPNE4,missense_variant,p.D82N,ENST00000429747,NM_130808.2,c.244G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.835),-1;CPNE4,missense_variant,p.D100N,ENST00000617767,NM_001289112.1,c.298G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.789),-1;CPNE4,missense_variant,p.D82N,ENST00000511604,,c.244G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.835),-1;CPNE4,missense_variant,p.D100N,ENST00000512332,NM_153429.1,c.298G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.789),-1;CPNE4,missense_variant,p.D100N,ENST00000502818,,c.298G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.789),-1;CPNE4,missense_variant,p.D82N,ENST00000505881,,c.244G>A,MODERATE,,deleterious(0),possibly_damaging(0.835),-1;CPNE4,missense_variant,p.D82N,ENST00000514999,,c.244G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.835),-1;CPNE4,downstream_gene_variant,,ENST00000505957,,,MODIFIER,,,,-1;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,,n.70G>A,MODIFIER,,,,-1","T","ENSG00000196353","ENST00000429747","Transcript","missense_variant","missense_variant","1121/4184","244/1674","82/557","D/N","Gac/Aac","COSV70191243",null,-1,"CPNE4","HGNC","HGNC:2317","protein_coding",null,"CCDS3072.1","ENSP00000411904","Q96A23.142",null,"UPI0000127C14","Q96A23-1","NM_130808.2",null,"P4",null,"deleterious(0.03)","possibly_damaging(0.835)","2024-03-16",null,"CDD:cd04048;PANTHER:PTHR10857;PANTHER:PTHR10857:SF4;Pfam:PF00168;Gene3D:2.60.40.150;SMART:SM00239;Superfamily:SSF49562",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AAAGTCCACAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4113595;COSM4113596","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZIC1",7545,"BI","GRCh38","chr3",147410942,147410942,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.830C>T","p.Pro277Leu","p.P277L","ENST00000282928","2024-01-03",129,121,8,184,null,null,"ZIC1,missense_variant,p.P277L,ENST00000282928,NM_003412.4,c.830C>T,MODERATE,YES,deleterious(0.01),benign(0.007),1;ZIC1,intron_variant,,ENST00000488404,,c.49-1576C>T,MODIFIER,,,,1;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.6,,MODIFIER,,,,-1;ZIC4,upstream_gene_variant,,ENST00000462748,,,MODIFIER,,,,-1;ZIC4,upstream_gene_variant,,ENST00000463250,,,MODIFIER,,,,-1;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1,,MODIFIER,,,,-1;ZIC1,intron_variant,,ENST00000472523,,n.521+17000C>T,MODIFIER,,,,1;ZIC4,upstream_gene_variant,,ENST00000464144,,,MODIFIER,,,,-1","T","ENSG00000152977","ENST00000282928","Transcript","missense_variant","missense_variant","1578/5260","830/1344","277/447","P/L","cCg/cTg","COSV51555799",null,1,"ZIC1","HGNC","HGNC:12872","protein_coding","YES","CCDS3136.1","ENSP00000282928","Q15915.179",null,"UPI000013DD09",null,"NM_003412.4","NM_003412.4","P1",null,"deleterious(0.01)","benign(0.007)","2024-01-03",null,"PROSITE_profiles:PS50157;PANTHER:PTHR19818:SF141;PANTHER:PTHR19818;Gene3D:3.30.160.60;SMART:SM00355",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GTGTCCGCGCG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM6043714","N","Unknown",{"$nulls":3},"muse;mutect2"]
["BCHE",590,"BI","GRCh38","chr3",165829751,165829751,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1283G>T","p.Cys428Phe","p.C428F","ENST00000264381","2024-02-04",137,110,27,185,null,null,"BCHE,missense_variant,p.C428F,ENST00000264381,NM_000055.4,c.1283G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;BCHE,intron_variant,,ENST00000479451,,c.107+7563G>T,MODIFIER,,,,-1;BCHE,intron_variant,,ENST00000488954,,c.107+7563G>T,MODIFIER,,,,-1;BCHE,missense_variant,p.C428F,ENST00000482958,,c.1283G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;BCHE,missense_variant,p.C428F,ENST00000497011,,c.1283G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;LINC01322,intron_variant,,ENST00000651449,,n.1008-16141C>A,MODIFIER,,,,1","A","ENSG00000114200","ENST00000264381","Transcript","missense_variant","missense_variant","1401/2405","1283/1809","428/602","C/F","tGc/tTc","COSV52254273",null,-1,"BCHE","HGNC","HGNC:983","protein_coding","YES","CCDS3198.1","ENSP00000264381","P06276.214",null,"UPI0000127866",null,"NM_000055.4","NM_000055.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-02-04",null,"PDB-ENSP_mappings:1p0i.A;PDB-ENSP_mappings:1p0m.A;PDB-ENSP_mappings:1p0p.A;PDB-ENSP_mappings:1p0q.A;PDB-ENSP_mappings:1xlu.A;PDB-ENSP_mappings:1xlv.A;PDB-ENSP_mappings:1xlw.A;PDB-ENSP_mappings:2j4c.A;PDB-ENSP_mappings:2pm8.A;PDB-ENSP_mappings:2pm8.B;PDB-ENSP_mappings:2wid.A;PDB-ENSP_mappings:2wif.A;PDB-ENSP_mappings:2wig.A;PDB-ENSP_mappings:2wij.A;PDB-ENSP_mappings:2wik.A;PDB-ENSP_mappings:2wil.A;PDB-ENSP_mappings:2wil.B;PDB-ENSP_mappings:2wsl.A;PDB-ENSP_mappings:2xmb.A;PDB-ENSP_mappings:2xmc.A;PDB-ENSP_mappings:2xmd.A;PDB-ENSP_mappings:2xmg.A;PDB-ENSP_mappings:2xqf.A;PDB-ENSP_mappings:2xqg.A;PDB-ENSP_mappings:2xqi.A;PDB-ENSP_mappings:2xqj.A;PDB-ENSP_mappings:2xqk.A;PDB-ENSP_mappings:2y1k.A;PDB-ENSP_mappings:3djy.A;PDB-ENSP_mappings:3dkk.A;PDB-ENSP_mappings:3o9m.A;PDB-ENSP_mappings:3o9m.B;PDB-ENSP_mappings:4aqd.A;PDB-ENSP_mappings:4aqd.B;PDB-ENSP_mappings:4axb.A;PDB-ENSP_mappings:4b0o.A;PDB-ENSP_mappings:4b0p.A;PDB-ENSP_mappings:4bbz.A;PDB-ENSP_mappings:4bds.A;PDB-ENSP_mappings:4tpk.A;PDB-ENSP_mappings:4tpk.B;PDB-ENSP_mappings:4xii.A;PDB-ENSP_mappings:4xii.B;PDB-ENSP_mappings:5dyt.A;PDB-ENSP_mappings:5dyt.B;PDB-ENSP_mappings:5dyw.A;PDB-ENSP_mappings:5dyw.B;PDB-ENSP_mappings:5dyy.A;PDB-ENSP_mappings:5dyy.B;PDB-ENSP_mappings:5k5e.A;PDB-ENSP_mappings:5k5e.B;PDB-ENSP_mappings:5lkr.A;PDB-ENSP_mappings:5lkr.B;PDB-ENSP_mappings:5nn0.A;PDB-ENSP_mappings:6emi.A;PDB-ENSP_mappings:6emi.B;PDB-ENSP_mappings:6ep4.A;PDB-ENSP_mappings:6eqp.A;PDB-ENSP_mappings:6eqq.A;PDB-ENSP_mappings:6esj.A;PDB-ENSP_mappings:6esj.B;PDB-ENSP_mappings:6esy.A;PDB-ENSP_mappings:6esy.B;PDB-ENSP_mappings:6eul.A;PDB-ENSP_mappings:6eyf.A;PDB-ENSP_mappings:6ez2.A;PDB-ENSP_mappings:6ez2.B;PDB-ENSP_mappings:6f7q.A;PDB-ENSP_mappings:6f7q.B;PDB-ENSP_mappings:6i0b.A;PDB-ENSP_mappings:6i0c.A;PDB-ENSP_mappings:6i2t.A;PDB-ENSP_mappings:6i2t.B;PDB-ENSP_mappings:6i2t.C;PDB-ENSP_mappings:6i2t.D;PDB-ENSP_mappings:6qaa.A;PDB-ENSP_mappings:6qab.A;PDB-ENSP_mappings:6qac.A;PDB-ENSP_mappings:6qad.A;PDB-ENSP_mappings:6qae.A;PDB-ENSP_mappings:6r6v.A;PDB-ENSP_mappings:6r6w.A;PDB-ENSP_mappings:6rua.A;PDB-ENSP_mappings:6rua.B;PDB-ENSP_mappings:6sam.A;CDD:cd00312;PANTHER:PTHR43918;PANTHER:PTHR43918:SF5;Gene3D:3.40.50.1820;Pfam:PF00135;Superfamily:SSF53474;Prints:PR00878",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAGGGCATATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4115001","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SERPINI2",5276,"BI","GRCh38","chr3",167465504,167465504,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.648G>T","p.Met216Ile","p.M216I","ENST00000264677","2024-04-09",98,79,19,117,null,null,"SERPINI2,missense_variant,p.M216I,ENST00000476257,,c.648G>T,MODERATE,YES,deleterious(0.01),benign(0.372),-1;SERPINI2,missense_variant,p.M216I,ENST00000264677,NM_006217.4,c.648G>T,MODERATE,,deleterious(0.01),benign(0.372),-1;SERPINI2,missense_variant,p.M216I,ENST00000461846,NM_001012303.3,c.648G>T,MODERATE,,deleterious(0.01),benign(0.372),-1;SERPINI2,missense_variant,p.M216I,ENST00000471111,,c.648G>T,MODERATE,,deleterious(0.01),benign(0.372),-1;SERPINI2,downstream_gene_variant,,ENST00000466903,,,MODIFIER,,,,-1;SERPINI2,downstream_gene_variant,,ENST00000467583,,,MODIFIER,,,,-1;SERPINI2,downstream_gene_variant,,ENST00000465031,,,MODIFIER,,,,-1","A","ENSG00000114204","ENST00000264677","Transcript","missense_variant","missense_variant","788/1678","648/1218","216/405","M/I","atG/atT","COSV52984766;COSV52987267",null,-1,"SERPINI2","HGNC","HGNC:8945","protein_coding",null,"CCDS3200.1","ENSP00000264677","O75830.170",null,"UPI0000135E26",null,"NM_006217.4",null,"P1",null,"deleterious(0.01)","benign(0.372)","2024-04-09",null,"Superfamily:SSF56574;SMART:SM00093;Gene3D:3.30.497.10;Pfam:PF00079;Gene3D:2.30.39.10;PANTHER:PTHR11461;PANTHER:PTHR11461:SF51",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"GCCTTCATCAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4115049","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VPS8",23355,"BI","GRCh38","chr3",184855738,184855738,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1063G>A","p.Ala355Thr","p.A355T","ENST00000625842","14/48",244,217,26,286,null,null,"VPS8,missense_variant,p.A355T,ENST00000287546,NM_001349298.1&NM_001349297.1,c.1063G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.471),1;VPS8,missense_variant,p.A355T,ENST00000625842,NM_001349294.1&NM_001349292.1&NM_001349293.1&NM_001009921.3&NM_001349295.1,c.1063G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.7),1;VPS8,missense_variant,p.A353T,ENST00000436792,NM_015303.3&NM_001349296.1,c.1057G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.896),1;VPS8,missense_variant,p.A353T,ENST00000446204,,c.1057G>A,MODERATE,,deleterious(0.02),probably_damaging(0.993),1;VPS8,downstream_gene_variant,,ENST00000452666,,,MODIFIER,,,,1;VPS8,non_coding_transcript_exon_variant,,ENST00000465818,,n.564G>A,MODIFIER,,,,1;VPS8,upstream_gene_variant,,ENST00000465213,,,MODIFIER,,,,1;VPS8,downstream_gene_variant,,ENST00000469713,,,MODIFIER,,,,1","A","ENSG00000156931","ENST00000625842","Transcript","missense_variant","missense_variant","1211/5014","1063/4287","355/1428","A/T","Gcc/Acc","COSV54981523",null,1,"VPS8","HGNC","HGNC:29122","protein_coding",null,"CCDS46971.1","ENSP00000487164","Q8N3P4.152",null,"UPI0000160BDC","Q8N3P4-1","NM_001349294.1;NM_001349292.1;NM_001349293.1;NM_001009921.3;NM_001349295.1","NM_001009921.3","P4",null,"deleterious(0.01)","possibly_damaging(0.7)","14/48",null,"PANTHER:PTHR42968:SF11;PANTHER:PTHR42968;Superfamily:SSF50969",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"TGCTGGCCTGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4115833;COSM4115834","N","Unknown",{"$nulls":3},"muse;mutect2"]
["EVC2",132884,"BI","GRCh38","chr4",5625812,5625812,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1983G>T","p.Lys661Asn","p.K661N","ENST00000344408","13/22",84,69,15,158,null,null,"EVC2,missense_variant,p.K581N,ENST00000310917,NM_001166136.1,c.1743G>T,MODERATE,,tolerated(0.14),probably_damaging(0.995),-1;EVC2,missense_variant,p.K661N,ENST00000344408,NM_147127.5,c.1983G>T,MODERATE,YES,tolerated(0.14),probably_damaging(0.995),-1;EVC2,missense_variant,p.K581N,ENST00000475313,,c.1743G>T,MODERATE,,tolerated(0.2),probably_damaging(0.992),-1;EVC2,3_prime_UTR_variant,,ENST00000509670,,c.*376G>T,MODIFIER,,,,-1","A","ENSG00000173040","ENST00000344408","Transcript","missense_variant","missense_variant","2029/4382","1983/3927","661/1308","K/N","aaG/aaT","COSV60388753",null,-1,"EVC2","HGNC","HGNC:19747","protein_coding","YES","CCDS3382.2","ENSP00000342144","Q86UK5.135",null,"UPI00001910B5","Q86UK5-1","NM_147127.5","NM_147127.5","P4",null,"tolerated(0.14)","probably_damaging(0.995)","13/22",null,"Low_complexity_(Seg):seg;PANTHER:PTHR16795:SF14;PANTHER:PTHR16795",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TCCTGCTTTAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3301647;COSM4125208","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GABRA4",2557,"BI","GRCh38","chr4",46993360,46993360,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.65G>A","p.Arg22His","p.R22H","ENST00000264318","2024-01-09",104,94,10,312,null,null,"GABRA4,missense_variant,p.R22H,ENST00000264318,NM_001204267.2&NM_001204266.2&NM_000809.4,c.65G>A,MODERATE,YES,tolerated(0.55),benign(0),-1;GABRB1,upstream_gene_variant,,ENST00000513567,,,MODIFIER,,,,1;GABRA4,non_coding_transcript_exon_variant,,ENST00000509316,,n.189G>A,MODIFIER,,,,-1;GABRA4,missense_variant,p.R22H,ENST00000502874,,c.65G>A,MODERATE,,tolerated_low_confidence(0.28),benign(0),-1;GABRA4,intron_variant,,ENST00000508560,,c.18+47G>A,MODIFIER,,,,-1;GABRA4,intron_variant,,ENST00000511523,,c.18+47G>A,MODIFIER,,,,-1","T","ENSG00000109158","ENST00000264318","Transcript","missense_variant","missense_variant","222/11147","65/1665","22/554","R/H","cGc/cAc","COSV51923763",null,-1,"GABRA4","HGNC","HGNC:4078","protein_coding","YES","CCDS3473.1","ENSP00000264318","P48169.185","X5D7F5.42","UPI0000074200",null,"NM_001204267.2;NM_001204266.2;NM_000809.4","NM_000809.4","P1",null,"tolerated(0.55)","benign(0)","2024-01-09",null,"PANTHER:PTHR18945;PANTHER:PTHR18945:SF393",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGAAGCGCAGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM2848566","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ATP10D",57205,"BI","GRCh38","chr4",47515481,47515481,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.296C>T","p.Ala99Val","p.A99V","ENST00000273859","2024-03-23",76,65,11,105,null,null,"ATP10D,missense_variant,p.A99V,ENST00000273859,NM_020453.4,c.296C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;ATP10D,missense_variant,p.A99V,ENST00000504445,,c.296C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;ATP10D,downstream_gene_variant,,ENST00000507889,,,MODIFIER,,,,1","T","ENSG00000145246","ENST00000273859","Transcript","missense_variant","missense_variant","578/6668","296/4281","99/1426","A/V","gCc/gTc","COSV56704778",null,1,"ATP10D","HGNC","HGNC:13549","protein_coding","YES","CCDS3476.1","ENSP00000273859","Q9P241.175",null,"UPI00001AE9B7","Q9P241-1","NM_020453.4","NM_020453.4","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-03-23",null,"Transmembrane_helices:TMhelix;CDD:cd02073;PANTHER:PTHR24092:SF84;PANTHER:PTHR24092;TIGRFAM:TIGR01652;Pfam:PF16209;Superfamily:SSF81665",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGCTGCCAATT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4124904","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["YTHDC1",91746,"BI","GRCh38","chr4",68318856,68318856,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1691T>C","p.Leu564Ser","p.L564S","ENST00000344157","13/17",86,78,8,141,null,null,"YTHDC1,missense_variant,p.L564S,ENST00000344157,NM_001031732.4,c.1691T>C,MODERATE,,tolerated(0.09),benign(0.19),-1;YTHDC1,missense_variant,p.L546S,ENST00000355665,NM_133370.4,c.1637T>C,MODERATE,,tolerated(0.09),benign(0.267),-1;YTHDC1,missense_variant,p.L564S,ENST00000579690,NM_001330698.2,c.1691T>C,MODERATE,YES,tolerated(0.12),possibly_damaging(0.545),-1;YTHDC1,upstream_gene_variant,,ENST00000507529,,,MODIFIER,,,,-1;YTHDC1,downstream_gene_variant,,ENST00000506175,,,MODIFIER,,,,-1","G","ENSG00000083896","ENST00000344157","Transcript","missense_variant","missense_variant","2028/6233","1691/2184","564/727","L/S","tTa/tCa","COSV60009065",null,-1,"YTHDC1","HGNC","HGNC:30626","protein_coding",null,"CCDS33992.1","ENSP00000339245","Q96MU7.166",null,"UPI000020B86D","Q96MU7-1","NM_001031732.4","NM_001031732.4","A2",null,"tolerated(0.09)","benign(0.19)","13/17",null,"PANTHER:PTHR12357;PANTHER:PTHR12357:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CCTTTAAATAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4125639","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NPFFR2",10886,"BI","GRCh38","chr4",72032179,72032179,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.278C>A","p.Ala93Asp","p.A93D","ENST00000308744","2024-01-04",26,16,10,74,null,null,"NPFFR2,missense_variant,p.A93D,ENST00000308744,NM_004885.2,c.278C>A,MODERATE,YES,deleterious_low_confidence(0.04),benign(0.154),1;NPFFR2,missense_variant,p.A93D,ENST00000344413,,c.278C>A,MODERATE,,deleterious_low_confidence(0),benign(0.295),1","A","ENSG00000056291","ENST00000308744","Transcript","missense_variant","missense_variant","376/1922","278/1569","93/522","A/D","gCc/gAc","COSV58147448",null,1,"NPFFR2","HGNC","HGNC:4525","protein_coding","YES","CCDS3551.1","ENSP00000307822","Q9Y5X5.168",null,"UPI000012FFBD","Q9Y5X5-1","NM_004885.2",null,"A2",null,"deleterious_low_confidence(0.04)","benign(0.154)","2024-01-04",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGCCGCCGACA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4125819","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FRAS1",80144,"BI","GRCh38","chr4",78540796,78540796,"+","Missense_Mutation","SNP","C","C","T","rs750578354",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.11711C>T","p.Ala3904Val","p.A3904V","ENST00000512123","74/74",34,28,5,51,null,null,"FRAS1,missense_variant,p.A3904V,ENST00000512123,NM_025074.7,c.11711C>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.867),1","T","ENSG00000138759","ENST00000512123","Transcript","missense_variant","missense_variant","12398/15871","11711/12039","3904/4012","A/V","gCg/gTg","rs750578354;COSV53594701",null,1,"FRAS1","HGNC","HGNC:19185","protein_coding","YES","CCDS54771.1","ENSP00000422834","Q86XX4.163",null,"UPI000021D4C2","Q86XX4-2","NM_025074.7","NM_025074.7","P1",null,"tolerated(0.06)","possibly_damaging(0.867)","74/74",null,"PANTHER:PTHR45739;PANTHER:PTHR45739:SF1;Transmembrane_helices:TMhelix;Low_complexity_(Seg):seg",{"$nulls":8},"4.014e-06",0,0,0,0,0,"8.856e-06",0,0,"8.856e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"TGGGGCGTCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1207490;COSM1207491","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ABCG2",9429,"BI","GRCh38","chr4",88113404,88113404,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1093A>G","p.Lys365Glu","p.K365E","ENST00000237612","2024-09-16",204,176,28,315,null,null,"ABCG2,missense_variant,p.K365E,ENST00000650821,NM_001348985.1,c.1093A>G,MODERATE,YES,tolerated(0.44),benign(0.015),-1;ABCG2,missense_variant,p.K365E,ENST00000515655,NM_001257386.2,c.1093A>G,MODERATE,,tolerated(0.46),benign(0.022),-1;ABCG2,missense_variant,p.K365E,ENST00000237612,NM_001348989.1&NM_001348986.1&NM_001348987.1&NM_001348988.1&NM_004827.3,c.1093A>G,MODERATE,,tolerated(0.44),benign(0.015),-1","C","ENSG00000118777","ENST00000237612","Transcript","missense_variant","missense_variant","1366/4206","1093/1968","365/655","K/E","Aag/Gag","COSV52943942",null,-1,"ABCG2","HGNC","HGNC:74","protein_coding",null,"CCDS3628.1","ENSP00000237612","Q9UNQ0.201","A1LUE4.3","UPI0000001275","Q9UNQ0-1","NM_001348989.1;NM_001348986.1;NM_001348987.1;NM_001348988.1;NM_004827.3","NM_004827.3","P1",null,"tolerated(0.44)","benign(0.015)","2024-09-16",null,"PDB-ENSP_mappings:5nj3.A;PDB-ENSP_mappings:5nj3.B;PDB-ENSP_mappings:5njg.A;PDB-ENSP_mappings:5njg.B;PDB-ENSP_mappings:6eti.A;PDB-ENSP_mappings:6eti.B;PDB-ENSP_mappings:6feq.A;PDB-ENSP_mappings:6feq.B;PDB-ENSP_mappings:6ffc.A;PDB-ENSP_mappings:6ffc.B;PDB-ENSP_mappings:6hbu.A;PDB-ENSP_mappings:6hbu.B;PDB-ENSP_mappings:6hco.A;PDB-ENSP_mappings:6hco.B;PDB-ENSP_mappings:6hij.A;PDB-ENSP_mappings:6hij.B;PDB-ENSP_mappings:6hzm.A;PDB-ENSP_mappings:6hzm.B;PDB-ENSP_mappings:6vxf.A;PDB-ENSP_mappings:6vxf.B;PDB-ENSP_mappings:6vxh.A;PDB-ENSP_mappings:6vxh.B;PDB-ENSP_mappings:6vxi.A;PDB-ENSP_mappings:6vxi.B;PDB-ENSP_mappings:6vxj.A;PDB-ENSP_mappings:6vxj.B;PANTHER:PTHR19241;PANTHER:PTHR19241:SF268",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CTCCTTGAAGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4126614;COSM4126615","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDH10",57575,"BI","GRCh38","chr4",133152046,133152046,"+","Missense_Mutation","SNP","G","G","A","rs1429679034",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1906G>A","p.Gly636Arg","p.G636R","ENST00000264360","2024-01-05",69,58,11,126,null,null,"PCDH10,missense_variant,p.G636R,ENST00000264360,NM_032961.3,c.1906G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;PCDH10,missense_variant,p.G636R,ENST00000618019,NM_020815.3,c.1906G>A,MODERATE,,deleterious(0),probably_damaging(1),1;PCDH10,upstream_gene_variant,,ENST00000511112,,,MODIFIER,,,,1;AC105383.1,upstream_gene_variant,,ENST00000505289,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000509715,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000656167,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000659189,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000660426,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000662896,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000664880,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000665360,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000667505,,,MODIFIER,YES,,,-1;AC105383.1,upstream_gene_variant,,ENST00000670166,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000670280,,,MODIFIER,,,,-1;AC105383.1,upstream_gene_variant,,ENST00000671428,,,MODIFIER,,,,-1","A","ENSG00000138650","ENST00000264360","Transcript","missense_variant","missense_variant","2753/8510","1906/3123","636/1040","G/R","Ggg/Agg","rs1429679034;COSV52088867",null,1,"PCDH10","HGNC","HGNC:13404","protein_coding","YES","CCDS34063.1","ENSP00000264360","Q9P2E7.153","X5D999.45","UPI0000161C61","Q9P2E7-1","NM_032961.3","NM_032961.3","P2",null,"deleterious(0)","probably_damaging(1)","2024-01-05",null,"Gene3D:2.60.40.60;PDB-ENSP_mappings:6vg4.A;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF0;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":8},"4.184e-06",0,0,0,0,0,"9.515e-06",0,0,"9.515e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCACCGGGGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4122302","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TLL1",7092,"BI","GRCh38","chr4",166065706,166065706,"+","Missense_Mutation","SNP","G","G","T","rs1234703820",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2031G>T","p.Glu677Asp","p.E677D","ENST00000061240","16/21",91,78,13,192,null,null,"TLL1,missense_variant,p.E677D,ENST00000061240,NM_012464.5,c.2031G>T,MODERATE,,tolerated(0.07),probably_damaging(0.997),1;TLL1,missense_variant,p.E700D,ENST00000507499,,c.2100G>T,MODERATE,YES,tolerated(0.07),probably_damaging(0.997),1;TLL1,3_prime_UTR_variant,,ENST00000509505,,c.*1676G>T,MODIFIER,,,,1","T","ENSG00000038295","ENST00000061240","Transcript","missense_variant","missense_variant","2699/7291","2031/3042","677/1013","E/D","gaG/gaT","rs1234703820;COSV50263893",null,1,"TLL1","HGNC","HGNC:11843","protein_coding",null,"CCDS3811.1","ENSP00000061240","O43897.151",null,"UPI0000072EED","O43897-1","NM_012464.5","NM_012464.5","P1",null,"tolerated(0.07)","probably_damaging(0.997)","16/21",null,"Gene3D:2.60.120.290;Pfam:PF00431;PIRSF:PIRSF001199;PROSITE_profiles:PS01180;PANTHER:PTHR45645;PANTHER:PTHR45645:SF26;SMART:SM00042;Superfamily:SSF49854;CDD:cd00041",{"$nulls":19},"6.770940217393218e-06",0,0,0,0,0,0,0,"1.5452600564458407e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GTGGAGATCTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4123334","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZFP42",132625,"BI","GRCh38","chr4",188002940,188002940,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.133G>A","p.Ala45Thr","p.A45T","ENST00000326866","2024-04-04",67,60,7,114,null,null,"ZFP42,missense_variant,p.A45T,ENST00000326866,NM_174900.5,c.133G>A,MODERATE,YES,tolerated(1),benign(0),1;ZFP42,missense_variant,p.A45T,ENST00000509524,NM_001304358.2,c.133G>A,MODERATE,,tolerated(1),benign(0),1;ZFP42,missense_variant,p.A45T,ENST00000618147,,c.133G>A,MODERATE,,tolerated(1),benign(0),1","A","ENSG00000179059","ENST00000326866","Transcript","missense_variant","missense_variant","541/2647","133/933","45/310","A/T","Gcg/Acg","COSV58816630;COSV58819685",null,1,"ZFP42","HGNC","HGNC:30949","protein_coding","YES","CCDS3849.1","ENSP00000317686","Q96MM3.159",null,"UPI0000049CA7",null,"NM_174900.5","NM_174900.5","P1",null,"tolerated(1)","benign(0)","2024-04-04",null,"PANTHER:PTHR14003:SF8;PANTHER:PTHR14003",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"TCAGCGCGGTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4123951","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["NDUFS6",4726,"BI","GRCh38","chr5",1814399,1814399,"+","Missense_Mutation","SNP","C","C","T","rs863224110",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.247C>T","p.Arg83Trp","p.R83W","ENST00000274137","2024-03-04",108,84,24,168,null,null,"NDUFS6,missense_variant,p.R83W,ENST00000469176,,c.247C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;NDUFS6,missense_variant,p.R83W,ENST00000274137,NM_004553.6,c.247C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1","T","ENSG00000145494","ENST00000274137","Transcript","missense_variant","missense_variant","258/518","247/375","83/124","R/W","Cgg/Tgg","rs863224110;COSV56876178",null,1,"NDUFS6","HGNC","HGNC:7713","protein_coding",null,"CCDS3866.1","ENSP00000274137","O75380.159","Q6IBC4.118","UPI000000DB49",null,"NM_004553.6","NM_004553.6","P1",null,"deleterious(0)","probably_damaging(0.994)","2024-03-04",null,"Gene3D:2.60.260.40;PDB-ENSP_mappings:5xtb.T;PDB-ENSP_mappings:5xtd.T;PDB-ENSP_mappings:5xth.T;PDB-ENSP_mappings:5xti.BT;PDB-ENSP_mappings:5xti.T;Pfam:PF10276;PIRSF:PIRSF016564;PANTHER:PTHR13156",{"$nulls":8},"2.386e-05",0,0,0,1.087E-4,0,"2.637e-05",1.629E-4,0,1.629E-4,"gnomAD_OTH","2.7070200303569436e-05","4.872820136370137e-05",0,0,0,0,0,0,"3.088140147156082e-05",0,0,"4.872820136370137e-05","afr","likely_pathogenic","0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",1,"AGACTCGGGTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM178268","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RANBP3L",202151,"BI","GRCh38","chr5",36257483,36257483,"+","Missense_Mutation","SNP","G","G","A","rs751770258",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.743C>T","p.Pro248Leu","p.P248L","ENST00000296604","2024-09-14",63,47,16,131,null,null,"RANBP3L,missense_variant,p.P248L,ENST00000296604,NM_001323278.2&NM_001323279.2&NM_001323273.2&NM_145000.5&NM_001323280.1&NM_001323277.1,c.743C>T,MODERATE,,tolerated(0.88),benign(0),-1;RANBP3L,missense_variant,p.P273L,ENST00000502994,NM_001323275.2&NM_001161429.3&NM_001323276.1&NM_001323274.1,c.818C>T,MODERATE,YES,tolerated(0.83),benign(0),-1;RANBP3L,missense_variant,p.P248L,ENST00000515759,,c.743C>T,MODERATE,,tolerated(0.79),benign(0),-1","A","ENSG00000164188","ENST00000296604","Transcript","missense_variant","missense_variant","1229/4625","743/1398","248/465","P/L","cCg/cTg","rs751770258;COSV56954604",null,-1,"RANBP3L","HGNC","HGNC:26353","protein_coding",null,"CCDS3918.1","ENSP00000296604","Q86VV4.135",null,"UPI000020C984","Q86VV4-1","NM_001323278.2;NM_001323279.2;NM_001323273.2;NM_145000.5;NM_001323280.1;NM_001323277.1","NM_145000.5","A2",null,"tolerated(0.88)","benign(0)","2024-09-14",null,"PANTHER:PTHR23138;PANTHER:PTHR23138:SF88",{"$nulls":8},"4.084e-06",0,0,0,0,0,0,0,"3.401e-05","3.401e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"ATTTCGGAATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3854991","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FGF10",2255,"BI","GRCh38","chr5",44388538,44388538,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.145G>A","p.Ala49Thr","p.A49T","ENST00000264664","2024-01-03",65,58,7,74,null,null,"FGF10,missense_variant,p.A49T,ENST00000264664,NM_004465.2,c.145G>A,MODERATE,YES,tolerated(0.16),benign(0.084),-1;FGF10,missense_variant,p.A49T,ENST00000513107,,c.145G>A,MODERATE,,tolerated_low_confidence(0.19),benign(0.084),-1;FGF10-AS1,upstream_gene_variant,,ENST00000502457,,,MODIFIER,YES,,,1","T","ENSG00000070193","ENST00000264664","Transcript","missense_variant","missense_variant","883/6113","145/627","49/208","A/T","Gcc/Acc","COSV99240159",null,-1,"FGF10","HGNC","HGNC:3666","protein_coding","YES","CCDS3950.1","ENSP00000264664","O15520.176",null,"UPI000004065F",null,"NM_004465.2","NM_004465.2","P1",null,"tolerated(0.16)","benign(0.084)","2024-01-03",null,"PANTHER:PTHR11486;PANTHER:PTHR11486:SF21",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGTGGCCTCTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FBN2",2201,"BI","GRCh38","chr5",128335510,128335510,"+","Nonsense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3792C>G","p.Tyr1264Ter","p.Y1264*","ENST00000262464","29/65",216,201,14,256,null,null,"FBN2,stop_gained,p.Y1264*,ENST00000508053,,c.3792C>G,HIGH,YES,,,-1;FBN2,stop_gained,p.Y1264*,ENST00000262464,NM_001999.4,c.3792C>G,HIGH,,,,-1;FBN2,stop_gained,p.Y1231*,ENST00000508989,,c.3693C>G,HIGH,,,,-1;FBN2,stop_gained,p.Y114*,ENST00000507835,,c.342C>G,HIGH,,,,-1","C","ENSG00000138829","ENST00000262464","Transcript","stop_gained","stop_gained","4434/10927","3792/8739","1264/2912","Y/*","taC/taG","COSV52497474",null,-1,"FBN2","HGNC","HGNC:3604","protein_coding",null,"CCDS34222.1","ENSP00000262464","P35556.209",null,"UPI0000519468","P35556-1","NM_001999.4","NM_001999.4","P1",{"$nulls":3},"29/65",null,"Gene3D:2.10.25.10;Pfam:PF12662;PIRSF:PIRSF036312;PROSITE_patterns:PS00010;PROSITE_profiles:PS50026;PANTHER:PTHR24039;PANTHER:PTHR24039:SF26;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,1,"CATTCGTAGCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3849859;COSM3849860","N","Unknown",{"$nulls":3},"muse;mutect2"]
["RAD50",10111,"BI","GRCh38","chr5",132595760,132595760,"+","Frame_Shift_Del","DEL","A","A","-","rs397507178",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2165del","p.Lys722ArgfsTer14","p.K722Rfs*14","ENST00000378823","13/25",105,87,16,118,null,null,"RAD50,frameshift_variant,p.K722Rfs*14,ENST00000378823,NM_005732.4,c.2165del,HIGH,YES,,,1;AC116366.2,frameshift_variant,p.K623Rfs*14,ENST00000640655,,c.1868del,HIGH,YES,,,1;AC116366.2,frameshift_variant,p.K623Rfs*14,ENST00000638568,,c.1868del,HIGH,,,,1;AC116366.2,frameshift_variant,p.K623Rfs*14,ENST00000638452,,c.1868del,HIGH,,,,1;RAD50,frameshift_variant,p.K733Rfs*14,ENST00000652485,,c.2198del,HIGH,,,,1;RAD50,frameshift_variant,p.*661del,ENST00000453394,,c.1982del,HIGH,,,,1;RAD50,downstream_gene_variant,,ENST00000434288,,,MODIFIER,,,,1;RAD50,downstream_gene_variant,,ENST00000651541,,,MODIFIER,,,,1;AC116366.2,non_coding_transcript_exon_variant,,ENST00000638504,,n.1773del,MODIFIER,,,,1;RAD50,non_coding_transcript_exon_variant,,ENST00000496204,,n.248del,MODIFIER,,,,1;RAD50,3_prime_UTR_variant,,ENST00000533482,,c.*1791del,MODIFIER,,,,1;RAD50,3_prime_UTR_variant,,ENST00000651723,,c.*2248del,MODIFIER,,,,1;RAD50,3_prime_UTR_variant,,ENST00000651160,,c.*309del,MODIFIER,,,,1;RAD50,3_prime_UTR_variant,,ENST00000652016,,c.*382del,MODIFIER,,,,1;RAD50,3_prime_UTR_variant,,ENST00000423956,,c.*351del,MODIFIER,,,,1;AC116366.2,non_coding_transcript_exon_variant,,ENST00000639899,,n.2684del,MODIFIER,,,,1;RAD50,non_coding_transcript_exon_variant,,ENST00000651658,,n.2708del,MODIFIER,,,,1","-","ENSG00000113522","ENST00000378823","Transcript","frameshift_variant","frameshift_variant","2505/8272","2157/3939","719/1312","L/X","ctA/ct","rs397507178;COSV54758496",null,1,"RAD50","HGNC","HGNC:9816","protein_coding","YES","CCDS34233.1","ENSP00000368100","Q92878.188",null,"UPI000006E9ED","Q92878-1","NM_005732.4","NM_005732.4","P1",{"$nulls":3},"13/25",null,"PDB-ENSP_mappings:5gox.A;PDB-ENSP_mappings:5gox.B;Coiled-coils_(Ncoils):Coil;PROSITE_profiles:PS51131;PANTHER:PTHR18867;Superfamily:SSF52540;Superfamily:SSF75712;TIGRFAM:TIGR00606;Low_complexity_(Seg):seg",{"$nulls":8},1.418E-4,0,0,1.024E-4,0.000284,0.0005563,1.472E-4,1.716E-4,0,0.0005563,"gnomAD_FIN",{"$nulls":13},"pathogenic","0;1","29566657;29739316",{"$nulls":6},"HIGH",1,"deletion",1,8,"1;1",1,"AGAGCTAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1433045;COSM1433046","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["VDAC1",7416,"BI","GRCh38","chr5",133975945,133975945,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.628T>C","p.Trp210Arg","p.W210R","ENST00000265333","2024-07-09",207,197,10,264,null,null,"VDAC1,missense_variant,p.W210R,ENST00000395047,,c.628T>C,MODERATE,YES,deleterious(0.01),probably_damaging(0.992),-1;VDAC1,missense_variant,p.W210R,ENST00000265333,NM_003374.3,c.628T>C,MODERATE,,deleterious(0.01),probably_damaging(0.992),-1;VDAC1,missense_variant,p.W210R,ENST00000395044,,c.628T>C,MODERATE,,deleterious(0.01),probably_damaging(0.992),-1;VDAC1,downstream_gene_variant,,ENST00000425992,,,MODIFIER,,,,-1;VDAC1,non_coding_transcript_exon_variant,,ENST00000492324,,n.366T>C,MODIFIER,,,,-1;VDAC1,non_coding_transcript_exon_variant,,ENST00000489906,,n.425T>C,MODIFIER,,,,-1","G","ENSG00000213585","ENST00000265333","Transcript","missense_variant","missense_variant","715/1839","628/852","210/283","W/R","Tgg/Cgg","COSV54736804",null,-1,"VDAC1","HGNC","HGNC:12669","protein_coding",null,"CCDS4168.1","ENSP00000265333","P21796.223","A0A1L1UHR1.20","UPI000004C7D8",null,"NM_003374.3","NM_003374.3","P1",null,"deleterious(0.01)","probably_damaging(0.992)","2024-07-09",null,"PDB-ENSP_mappings:2jk4.A;PDB-ENSP_mappings:2k4t.A;PDB-ENSP_mappings:5jdp.A;PDB-ENSP_mappings:5xdn.A;PDB-ENSP_mappings:5xdn.B;PDB-ENSP_mappings:5xdo.A;PDB-ENSP_mappings:5xdo.B;PDB-ENSP_mappings:6g6u.A;PDB-ENSP_mappings:6g6u.B;PDB-ENSP_mappings:6g73.A;PDB-ENSP_mappings:6g73.B;PDB-ENSP_mappings:6g73.C;PDB-ENSP_mappings:6g73.D;PDB-ENSP_mappings:6tiq.A;PDB-ENSP_mappings:6tir.A;CDD:cd07306;PANTHER:PTHR11743;PANTHER:PTHR11743:SF13;Gene3D:2.40.160.10;Pfam:PF01459",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"TGTCCAGGCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3850121","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MACROH2A1",9555,"BI","GRCh38","chr5",135370092,135370092,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.223C>T","p.Arg75Trp","p.R75W","ENST00000510038","2024-03-09",46,42,4,54,null,null,"MACROH2A1,missense_variant,p.R75W,ENST00000511689,NM_138610.3,c.223C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;MACROH2A1,missense_variant,p.R75W,ENST00000304332,NM_004893.3&NM_001040158.1,c.223C>T,MODERATE,,deleterious(0),probably_damaging(0.992),-1;MACROH2A1,missense_variant,p.R75W,ENST00000312469,NM_138609.2,c.223C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;MACROH2A1,missense_variant,p.R75W,ENST00000510038,,c.223C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;MACROH2A1,intron_variant,,ENST00000423969,,c.172+18830C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000360597,,n.417C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000508785,,n.372C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000513210,,n.189C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000506532,,n.385C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000508120,,n.196C>T,MODIFIER,,,,-1;MACROH2A1,missense_variant,p.R75W,ENST00000506671,,c.223C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000507868,,n.399C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000506218,,n.579C>T,MODIFIER,,,,-1;MACROH2A1,non_coding_transcript_exon_variant,,ENST00000504197,,n.55C>T,MODIFIER,,,,-1","A","ENSG00000113648","ENST00000510038","Transcript","missense_variant","missense_variant","355/1314","223/1119","75/372","R/W","Cgg/Tgg","COSV100427555",null,-1,"MACROH2A1","HGNC","HGNC:4740","protein_coding",null,"CCDS4185.1","ENSP00000424971","O75367.204",null,"UPI00000723ED","O75367-1",null,null,"A1",null,"deleterious(0)","probably_damaging(0.999)","2024-03-09",null,"PDB-ENSP_mappings:1u35.C;PDB-ENSP_mappings:1u35.G;PDB-ENSP_mappings:2f8n.G;CDD:cd00074;PANTHER:PTHR23430:SF20;PANTHER:PTHR23430;PIRSF:PIRSF037942;Pfam:PF00125;Gene3D:1.10.20.10;SMART:SM00414;Superfamily:SSF47113;Prints:PR00620",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GACCCGTCCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["SMAD5",4090,"BI","GRCh38","chr5",136177338,136177338,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1256G>A","p.Gly419Asp","p.G419D","ENST00000545279","2024-08-08",31,28,3,65,null,null,"SMAD5,missense_variant,p.G419D,ENST00000545279,NM_001001419.3&NM_005903.7,c.1256G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;SMAD5,missense_variant,p.G419D,ENST00000545620,NM_001001420.2,c.1256G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SMAD5,missense_variant,p.G419D,ENST00000509297,,c.1256G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SMAD5,downstream_gene_variant,,ENST00000507637,,,MODIFIER,,,,1;SMAD5,splice_region_variant,,ENST00000514777,,n.540G>A,LOW,,,,1;SMAD5,intron_variant,,ENST00000513418,,c.164+2706G>A,MODIFIER,,,,1","A","ENSG00000113658","ENST00000545279","Transcript","missense_variant","missense_variant;splice_region_variant","1618/7013","1256/1398","419/465","G/D","gGt/gAt","COSV72596906",null,1,"SMAD5","HGNC","HGNC:6771","protein_coding","YES","CCDS75308.1","ENSP00000441954","Q99717.204","Q68DB7.148","UPI0000135A7E",null,"NM_001001419.3;NM_005903.7","NM_005903.7","P1",null,"deleterious(0)","probably_damaging(1)","2024-08-08",null,"PROSITE_profiles:PS51076;CDD:cd10497;PANTHER:PTHR13703:SF36;PANTHER:PTHR13703;Pfam:PF03166;Gene3D:2.60.200.10;SMART:SM00524;Superfamily:SSF49879",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATAGGGTTGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["PCDHAC2",56134,"BI","GRCh38","chr5",140967076,140967076,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.310C>T","p.Arg104Cys","p.R104C","ENST00000289269","2024-01-04",35,32,3,84,null,null,"PCDHAC2,missense_variant,p.R104C,ENST00000289269,NM_018899.6,c.310C>T,MODERATE,YES,deleterious(0),probably_damaging(0.916),1;PCDHAC2,missense_variant,p.R104C,ENST00000615316,NM_031883.2,c.310C>T,MODERATE,,deleterious(0),probably_damaging(0.977),1;PCDHAC1,intron_variant,,ENST00000253807,NM_018898.5,c.2434-11873C>T,MODIFIER,YES,,,1;PCDHA13,intron_variant,,ENST00000289272,NM_018904.3,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA10,intron_variant,,ENST00000307360,NM_018901.4,c.2389-11873C>T,MODIFIER,YES,,,1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.3,c.1603-11873C>T,MODIFIER,,,,1;PCDHA12,intron_variant,,ENST00000398631,NM_018903.4,c.2368-11873C>T,MODIFIER,YES,,,1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.5,c.2392-11873C>T,MODIFIER,YES,,,1;PCDHA13,intron_variant,,ENST00000409494,,c.2395-11873C>T,MODIFIER,,,,1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.4,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA10,intron_variant,,ENST00000506939,NM_031860.3,c.1600-11873C>T,MODIFIER,,,,1;PCDHA4,intron_variant,,ENST00000512229,,c.2386-11873C>T,MODIFIER,,,,1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.3,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA7,intron_variant,,ENST00000525929,NM_018910.3,c.2356-11873C>T,MODIFIER,YES,,,1;PCDHA2,intron_variant,,ENST00000526136,NM_018905.3,c.2389-11873C>T,MODIFIER,YES,,,1;PCDHA6,intron_variant,,ENST00000527624,NM_031849.3,c.1603-11873C>T,MODIFIER,,,,1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.4,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA5,intron_variant,,ENST00000529619,,c.2353-11873C>T,MODIFIER,,,,1;PCDHA5,intron_variant,,ENST00000529859,NM_018908.3,c.2353-11873C>T,MODIFIER,YES,,,1;PCDHA4,intron_variant,,ENST00000530339,NM_018907.4,c.2386-11873C>T,MODIFIER,YES,,,1;PCDHA8,intron_variant,,ENST00000531613,NM_018911.3,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.2,c.2395-11873C>T,MODIFIER,YES,,,1;PCDHA11,intron_variant,,ENST00000617408,,c.278-11873C>T,MODIFIER,,,,1;PCDHA10,intron_variant,,ENST00000673459,,c.*114-11873C>T,MODIFIER,,,,1;PCDHA12,intron_variant,,ENST00000673403,,c.2368-11873C>T,MODIFIER,,,,1;AC010223.1,upstream_gene_variant,,ENST00000625092,,,MODIFIER,YES,,,-1","T","ENSG00000243232","ENST00000289269","Transcript","missense_variant","missense_variant","601/5725","310/3024","104/1007","R/C","Cgc/Tgc","COSV53839598",null,1,"PCDHAC2","HGNC","HGNC:8677","protein_coding","YES","CCDS4242.1","ENSP00000289269","Q9Y5I4.161",null,"UPI0000127786","Q9Y5I4-1","NM_018899.6","NM_018899.6","P1",null,"deleterious(0)","probably_damaging(0.916)","2024-01-04",null,"Gene3D:2.60.40.60;Pfam:PF08266;Prints:PR00205;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF119;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACGAGCGCATT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3851313","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PCDHB15",56121,"BI","GRCh38","chr5",141247548,141247548,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1970C>T","p.Thr657Met","p.T657M","ENST00000231173","2024-01-01",115,107,8,176,null,null,"PCDHB15,missense_variant,p.T657M,ENST00000231173,NM_018935.4,c.1970C>T,MODERATE,YES,deleterious_low_confidence(0.02),possibly_damaging(0.627),1;PCDHB15,downstream_gene_variant,,ENST00000623671,,,MODIFIER,,,,1;AC244517.10,downstream_gene_variant,,ENST00000624396,,,MODIFIER,YES,,,1;PCDHB19P,downstream_gene_variant,,ENST00000625133,,,MODIFIER,YES,,,1;AC244517.11,upstream_gene_variant,,ENST00000624560,,,MODIFIER,,,,-1","T","ENSG00000113248","ENST00000231173","Transcript","missense_variant","missense_variant","2154/3971","1970/2364","657/787","T/M","aCg/aTg","COSV50862136;COSV50879300",null,1,"PCDHB15","HGNC","HGNC:8686","protein_coding","YES","CCDS4257.1","ENSP00000231173","Q9Y5E8.165",null,"UPI00001273E8",null,"NM_018935.4","NM_018935.4","P1",null,"deleterious_low_confidence(0.02)","possibly_damaging(0.627)","2024-01-01",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF97;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"1;1",null,"CGCCACGCTGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3851609","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TAF7",6879,"BI","GRCh38","chr5",141319600,141319600,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.445C>T","p.Arg149Trp","p.R149W","ENST00000313368","2024-01-01",139,130,9,198,null,null,"TAF7,missense_variant,p.R149W,ENST00000313368,NM_005642.3,c.445C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;TAF7,downstream_gene_variant,,ENST00000624761,,,MODIFIER,,,,-1;TAF7,intron_variant,,ENST00000624699,,n.128+918C>T,MODIFIER,,,,-1;AC005618.4,upstream_gene_variant,,ENST00000670972,,,MODIFIER,YES,,,1","A","ENSG00000178913","ENST00000313368","Transcript","missense_variant","missense_variant","1185/2295","445/1050","149/349","R/W","Cgg/Tgg","COSV57664903",null,-1,"TAF7","HGNC","HGNC:11541","protein_coding","YES","CCDS4259.1","ENSP00000312709","Q15545.172",null,"UPI00001367E8",null,"NM_005642.3","NM_005642.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-01-01",null,"PDB-ENSP_mappings:4rgw.B;PDB-ENSP_mappings:5fur.H;PDB-ENSP_mappings:6mzl.J;PDB-ENSP_mappings:6mzm.J;SMART:SM01370;Pfam:PF04658;PANTHER:PTHR12228;PANTHER:PTHR12228:SF6;CDD:cd08047;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CTTCCGGAACC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3851622","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PCDHGA12",26025,"BI","GRCh38","chr5",141432563,141432563,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1804G>A","p.Ala602Thr","p.A602T","ENST00000252085","2024-01-04",154,140,12,235,null,null,"PCDHGA12,missense_variant,p.A602T,ENST00000252085,NM_003735.3,c.1804G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.993),1;PCDHGA12,missense_variant,p.A602T,ENST00000613314,NM_032094.2,c.1804G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.988),1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.4,c.2425-62244G>A,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.4,c.2425-62244G>A,MODIFIER,YES,,,1;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.3,c.2433+8903G>A,MODIFIER,YES,,,1;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.4,c.2415+12289G>A,MODIFIER,YES,,,1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1,c.2424+37326G>A,MODIFIER,YES,,,1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,c.2436+16952G>A,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2422-62244G>A,MODIFIER,YES,,,1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.3,c.2424+56056G>A,MODIFIER,YES,,,1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,c.2422-62244G>A,MODIFIER,YES,,,1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.4,c.2424+47240G>A,MODIFIER,YES,,,1;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.2,c.1878+9458G>A,MODIFIER,,,,1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.4,c.2397+42282G>A,MODIFIER,YES,,,1;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2,c.2418+21943G>A,MODIFIER,YES,,,1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,c.2422-62244G>A,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2410-62244G>A,MODIFIER,YES,,,1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.4,c.2515-62244G>A,MODIFIER,YES,,,1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,c.2424+27187G>A,MODIFIER,YES,,,1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.5,c.2415+59754G>A,MODIFIER,YES,,,1;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2,c.2397+32039G>A,MODIFIER,YES,,,1;PCDHGB8P,downstream_gene_variant,,ENST00000502926,,,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2004-62244G>A,MODIFIER,,,,1;PCDHGB8P,downstream_gene_variant,,ENST00000507007,,,MODIFIER,YES,,,1;AC005618.2,upstream_gene_variant,,ENST00000624928,,,MODIFIER,YES,,,-1","A","ENSG00000253159","ENST00000252085","Transcript","missense_variant","missense_variant","2057/4854","1804/2799","602/932","A/T","Gcc/Acc","COSV52745510",null,1,"PCDHGA12","HGNC","HGNC:8699","protein_coding","YES","CCDS4260.1","ENSP00000252085","O60330.161",null,"UPI0000073EA1","O60330-1","NM_003735.3","NM_003735.3","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.993)","2024-01-04",null,"CDD:cd11304;Pfam:PF00028;Gene3D:2.60.40.60;SMART:SM00112;Superfamily:SSF49313;PROSITE_profiles:PS50268;PANTHER:PTHR24028:SF227;PANTHER:PTHR24028",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGAACGCCTGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3852067;COSM3852068","N","Unknown",{"$nulls":3},"muse;mutect2"]
["KIF4B",285643,"BI","GRCh38","chr5",155016879,155016879,"+","Missense_Mutation","SNP","C","C","A","rs1016306406",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3020C>A","p.Pro1007His","p.P1007H","ENST00000435029","2024-01-01",162,154,8,296,null,null,"KIF4B,missense_variant,p.P1007H,ENST00000435029,NM_001099293.3,c.3020C>A,MODERATE,YES,deleterious(0.02),benign(0.235),1","A","ENSG00000226650","ENST00000435029","Transcript","missense_variant","missense_variant","3125/4387","3020/3705","1007/1234","P/H","cCt/cAt","rs1016306406;COSV70528207;COSV70529173",null,1,"KIF4B","HGNC","HGNC:6322","protein_coding","YES","CCDS47324.1","ENSP00000387875","Q2VIQ3.127",null,"UPI000013D5DB",null,"NM_001099293.3","NM_001099293.3","P1",null,"deleterious(0.02)","benign(0.235)","2024-01-01",{"$nulls":35},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1;1",null,"TCTTCCTAATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3853079;COSM3853080","N","Unknown",{"$nulls":3},"muse;mutect2"]
["FAM71B",153745,"BI","GRCh38","chr5",157162973,157162973,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1292G>T","p.Arg431Ile","p.R431I","ENST00000302938","2024-02-02",115,107,8,200,null,null,"FAM71B,missense_variant,p.R431I,ENST00000302938,NM_130899.3,c.1292G>T,MODERATE,YES,deleterious(0),benign(0.311),-1;ITK,intron_variant,,ENST00000521769,,c.-296-3115C>A,MODIFIER,,,,1;MED7,upstream_gene_variant,,ENST00000524289,,,MODIFIER,,,,-1","A","ENSG00000170613","ENST00000302938","Transcript","missense_variant","missense_variant","1388/2515","1292/1818","431/605","R/I","aGa/aTa","COSV57227891",null,-1,"FAM71B","HGNC","HGNC:28397","protein_coding","YES","CCDS4335.1","ENSP00000305596","Q8TC56.106","A0A140VJJ4.29","UPI000006F9DC",null,"NM_130899.3","NM_130899.3","P1",null,"deleterious(0)","benign(0.311)","2024-02-02",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR22574;PANTHER:PTHR22574:SF2",{"$nulls":19},"6.7570299506769516e-06",0,0,0,0,0,0,0,"1.5427800462930463e-05",0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTCTTCTTTCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3853109","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HIVEP1",3096,"BI","GRCh38","chr6",12164414,12164414,"+","Missense_Mutation","SNP","G","G","A","rs760461967",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.8110G>A","p.Asp2704Asn","p.D2704N","ENST00000379388","2024-09-09",63,54,8,111,null,null,"HIVEP1,missense_variant,p.D2704N,ENST00000379388,NM_002114.4,c.8110G>A,MODERATE,YES,tolerated(0.09),probably_damaging(0.999),1;HIVEP1,missense_variant,p.D2703N,ENST00000541134,,c.8107G>A,MODERATE,,tolerated(0.09),probably_damaging(0.999),1;HIVEP1,missense_variant,p.D569N,ENST00000627968,,c.1705G>A,MODERATE,,deleterious(0),probably_damaging(0.985),1;HIVEP1,downstream_gene_variant,,ENST00000442081,,,MODIFIER,,,,1;HIVEP1,3_prime_UTR_variant,,ENST00000399469,,c.*1793G>A,MODIFIER,,,,1","A","ENSG00000095951","ENST00000379388","Transcript","missense_variant","missense_variant","8468/9053","8110/8157","2704/2718","D/N","Gac/Aac","rs760461967;COSV65099336;COSV65105172",null,1,"HIVEP1","HGNC","HGNC:4920","protein_coding","YES","CCDS43426.1","ENSP00000368698","P15822.203",null,"UPI0004438055",null,"NM_002114.4","NM_002114.4","P4",null,"tolerated(0.09)","probably_damaging(0.999)","2024-09-09",null,"PANTHER:PTHR45944;PANTHER:PTHR45944:SF3;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"4.033e-06",0,0,0,0,0,"8.924e-06",0,0,"8.924e-06","gnomAD_NFE",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"TCAGCGACGTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3857947","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["H2BC11",8970,"BI","GRCh38","chr6",27132746,27132746,"+","Missense_Mutation","SNP","G","G","A","rs768243833",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.5C>T","p.Pro2Leu","p.P2L","ENST00000339812","2024-01-01",83,55,28,166,null,null,"H2BC11,missense_variant,p.P2L,ENST00000607124,,c.5C>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.448),-1;H2BC11,missense_variant,p.P2L,ENST00000339812,NM_021058.4,c.5C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.448),-1;H2AC11,upstream_gene_variant,,ENST00000359193,NM_021064.5,,MODIFIER,YES,,,1;H2BC11,upstream_gene_variant,,ENST00000606923,,,MODIFIER,,,,-1","A","ENSG00000124635","ENST00000339812","Transcript","missense_variant","missense_variant","50/480","5/381","2/126","P/L","cCa/cTa","rs768243833;COSV60361779",null,-1,"H2BC11","HGNC","HGNC:4761","protein_coding",null,"CCDS4618.1","ENSP00000342886","P06899.198","A0A024RCJ2.43","UPI0000001BD5",null,"NM_021058.4","NM_021058.4","P1",null,"deleterious_low_confidence(0)","possibly_damaging(0.448)","2024-01-01",null,"Gene3D:1.10.20.10;PDB-ENSP_mappings:2rvq.D;PDB-ENSP_mappings:3a6n.D;PDB-ENSP_mappings:3a6n.H;PDB-ENSP_mappings:3afa.D;PDB-ENSP_mappings:3afa.H;PDB-ENSP_mappings:3an2.D;PDB-ENSP_mappings:3an2.H;PDB-ENSP_mappings:3av1.D;PDB-ENSP_mappings:3av1.H;PDB-ENSP_mappings:3av2.D;PDB-ENSP_mappings:3av2.H;PDB-ENSP_mappings:3ayw.D;PDB-ENSP_mappings:3ayw.H;PDB-ENSP_mappings:3aze.D;PDB-ENSP_mappings:3aze.H;PDB-ENSP_mappings:3azf.D;PDB-ENSP_mappings:3azf.H;PDB-ENSP_mappings:3azg.D;PDB-ENSP_mappings:3azg.H;PDB-ENSP_mappings:3azh.D;PDB-ENSP_mappings:3azh.H;PDB-ENSP_mappings:3azi.D;PDB-ENSP_mappings:3azi.H;PDB-ENSP_mappings:3azj.D;PDB-ENSP_mappings:3azj.H;PDB-ENSP_mappings:3azk.D;PDB-ENSP_mappings:3azk.H;PDB-ENSP_mappings:3azl.D;PDB-ENSP_mappings:3azl.H;PDB-ENSP_mappings:3azm.D;PDB-ENSP_mappings:3azm.H;PDB-ENSP_mappings:3azn.D;PDB-ENSP_mappings:3azn.H;PDB-ENSP_mappings:3w96.D;PDB-ENSP_mappings:3w96.H;PDB-ENSP_mappings:3w98.D;PDB-ENSP_mappings:3w98.H;PDB-ENSP_mappings:3w99.D;PDB-ENSP_mappings:3w99.H;PDB-ENSP_mappings:3wa9.D;PDB-ENSP_mappings:3wa9.H;PDB-ENSP_mappings:3waa.D;PDB-ENSP_mappings:3waa.H;PDB-ENSP_mappings:3wtp.D;PDB-ENSP_mappings:3wtp.H;PDB-ENSP_mappings:4ym5.D;PDB-ENSP_mappings:4ym5.H;PDB-ENSP_mappings:4ym6.D;PDB-ENSP_mappings:4ym6.H;PDB-ENSP_mappings:4z5t.D;PDB-ENSP_mappings:4z5t.H;PDB-ENSP_mappings:5av5.D;PDB-ENSP_mappings:5av5.H;PDB-ENSP_mappings:5av6.D;PDB-ENSP_mappings:5av6.H;PDB-ENSP_mappings:5av8.D;PDB-ENSP_mappings:5av8.H;PDB-ENSP_mappings:5av9.D;PDB-ENSP_mappings:5av9.H;PDB-ENSP_mappings:5avb.D;PDB-ENSP_mappings:5avb.H;PDB-ENSP_mappings:5avc.D;PDB-ENSP_mappings:5avc.H;PDB-ENSP_mappings:5ay8.D;PDB-ENSP_mappings:5ay8.H;PDB-ENSP_mappings:5b0y.D;PDB-ENSP_mappings:5b0y.H;PDB-ENSP_mappings:5b0z.D;PDB-ENSP_mappings:5b0z.H;PDB-ENSP_mappings:5b24.D;PDB-ENSP_mappings:5b24.H;PDB-ENSP_mappings:5b2i.D;PDB-ENSP_mappings:5b2i.H;PDB-ENSP_mappings:5b2j.D;PDB-ENSP_mappings:5b2j.H;PDB-ENSP_mappings:5b31.D;PDB-ENSP_mappings:5b31.H;PDB-ENSP_mappings:5b32.D;PDB-ENSP_mappings:5b32.H;PDB-ENSP_mappings:5b33.D;PDB-ENSP_mappings:5b33.H;PDB-ENSP_mappings:5b40.D;PDB-ENSP_mappings:5b40.H;PDB-ENSP_mappings:5cpi.D;PDB-ENSP_mappings:5cpi.H;PDB-ENSP_mappings:5cpj.D;PDB-ENSP_mappings:5cpj.H;PDB-ENSP_mappings:5cpk.D;PDB-ENSP_mappings:5cpk.H;PDB-ENSP_mappings:5gse.D;PDB-ENSP_mappings:5gse.H;PDB-ENSP_mappings:5gse.N;PDB-ENSP_mappings:5gtc.D;PDB-ENSP_mappings:5gtc.H;PDB-ENSP_mappings:5gxq.D;PDB-ENSP_mappings:5gxq.H;PDB-ENSP_mappings:5jrg.D;PDB-ENSP_mappings:5jrg.H;PDB-ENSP_mappings:5x7x.D;PDB-ENSP_mappings:5x7x.H;PDB-ENSP_mappings:5xf3.D;PDB-ENSP_mappings:5xf3.H;PDB-ENSP_mappings:5xf4.D;PDB-ENSP_mappings:5xf4.H;PDB-ENSP_mappings:5xf5.D;PDB-ENSP_mappings:5xf5.H;PDB-ENSP_mappings:5y0c.D;PDB-ENSP_mappings:5y0c.H;PDB-ENSP_mappings:5y0d.D;PDB-ENSP_mappings:5y0d.H;PDB-ENSP_mappings:5z23.D;PDB-ENSP_mappings:5z23.H;PDB-ENSP_mappings:5z30.D;PDB-ENSP_mappings:5z30.H;PDB-ENSP_mappings:5zbx.D;PDB-ENSP_mappings:5zbx.H;PDB-ENSP_mappings:6a5l.d;PDB-ENSP_mappings:6a5l.h;PDB-ENSP_mappings:6a5o.d;PDB-ENSP_mappings:6a5o.h;PDB-ENSP_mappings:6a5p.d;PDB-ENSP_mappings:6a5p.h;PDB-ENSP_mappings:6a5r.d;PDB-ENSP_mappings:6a5r.h;PDB-ENSP_mappings:6a5t.d;PDB-ENSP_mappings:6a5t.h;PDB-ENSP_mappings:6a5u.d;PDB-ENSP_mappings:6a5u.h;PDB-ENSP_mappings:6buz.D;PDB-ENSP_mappings:6buz.H;PDB-ENSP_mappings:6e0c.D;PDB-ENSP_mappings:6e0c.H;PDB-ENSP_mappings:6e0p.D;PDB-ENSP_mappings:6e0p.H;PDB-ENSP_mappings:6hkt.1;PDB-ENSP_mappings:6hkt.3;PDB-ENSP_mappings:6hkt.D;PDB-ENSP_mappings:6hkt.H;PDB-ENSP_mappings:6hkt.N;PDB-ENSP_mappings:6hkt.R;PDB-ENSP_mappings:6hkt.X;PDB-ENSP_mappings:6hkt.d;PDB-ENSP_mappings:6hkt.h;PDB-ENSP_mappings:6hkt.n;PDB-ENSP_mappings:6hkt.r;PDB-ENSP_mappings:6hkt.x;PDB-ENSP_mappings:6hts.L;PDB-ENSP_mappings:6hts.P;PDB-ENSP_mappings:6inq.d;PDB-ENSP_mappings:6inq.h;PDB-ENSP_mappings:6ir9.d;PDB-ENSP_mappings:6ir9.h;PDB-ENSP_mappings:6j4w.d;PDB-ENSP_mappings:6j4w.h;PDB-ENSP_mappings:6j4x.d;PDB-ENSP_mappings:6j4x.h;PDB-ENSP_mappings:6j4y.d;PDB-ENSP_mappings:6j4y.h;PDB-ENSP_mappings:6j4z.d;PDB-ENSP_mappings:6j4z.h;PDB-ENSP_mappings:6j50.d;PDB-ENSP_mappings:6j50.h;PDB-ENSP_mappings:6j51.d;PDB-ENSP_mappings:6j51.h;PDB-ENSP_mappings:6jou.D;PDB-ENSP_mappings:6jou.H;PDB-ENSP_mappings:6jr0.D;PDB-ENSP_mappings:6jr0.H;PDB-ENSP_mappings:6jr1.D;PDB-ENSP_mappings:6jr1.H;PDB-ENSP_mappings:6k1i.D;PDB-ENSP_mappings:6k1i.H;PDB-ENSP_mappings:6k1j.D;PDB-ENSP_mappings:6k1j.H;PDB-ENSP_mappings:6k1k.D;PDB-ENSP_mappings:6k1k.H;PDB-ENSP_mappings:6kvd.D;PDB-ENSP_mappings:6kvd.H;PDB-ENSP_mappings:6l49.D;PDB-ENSP_mappings:6l49.H;PDB-ENSP_mappings:6l49.N;PDB-ENSP_mappings:6l49.R;PDB-ENSP_mappings:6l49.V;PDB-ENSP_mappings:6l49.Z;PDB-ENSP_mappings:6l4a.D;PDB-ENSP_mappings:6l4a.H;PDB-ENSP_mappings:6l4a.N;PDB-ENSP_mappings:6l4a.R;PDB-ENSP_mappings:6l4a.V;PDB-ENSP_mappings:6l4a.Z;PDB-ENSP_mappings:6o1d.D;PDB-ENSP_mappings:6o1d.H;PDB-ENSP_mappings:6r8y.D;PDB-ENSP_mappings:6r8y.H;PDB-ENSP_mappings:6r8z.D;PDB-ENSP_mappings:6r8z.H;PDB-ENSP_mappings:6r90.D;PDB-ENSP_mappings:6r90.H;PDB-ENSP_mappings:6r91.D;PDB-ENSP_mappings:6r91.H;PDB-ENSP_mappings:6r92.D;PDB-ENSP_mappings:6r92.H;PDB-ENSP_mappings:6r93.D;PDB-ENSP_mappings:6r93.H;PDB-ENSP_mappings:6r94.D;PDB-ENSP_mappings:6r94.H;PDB-ENSP_mappings:6t90.D;PDB-ENSP_mappings:6t90.H;PDB-ENSP_mappings:6t93.D;PDB-ENSP_mappings:6t93.H;PDB-ENSP_mappings:6yov.D;PDB-ENSP_mappings:6yov.H;PANTHER:PTHR23428;PANTHER:PTHR23428:SF196;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"7.961e-06","6.163e-05",0,0,0,0,"8.796e-06",0,0,"6.163e-05","gnomAD_AFR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"GCTCTGGCATA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3861043","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["H1-5",3009,"BI","GRCh38","chr6",27866895,27866895,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.635A>G","p.Lys212Arg","p.K212R","ENST00000331442","2024-01-01",37,29,8,65,null,null,"H1-5,missense_variant,p.K212R,ENST00000331442,NM_005322.3,c.635A>G,MODERATE,YES,tolerated(0.53),benign(0.19),-1;H2BC15,downstream_gene_variant,,ENST00000396980,,,MODIFIER,,,,1;H2AC16,downstream_gene_variant,,ENST00000613174,NM_003511.3,,MODIFIER,YES,,,1;H3C11,downstream_gene_variant,,ENST00000616365,NM_003533.3,,MODIFIER,YES,,,-1;H2BC16P,upstream_gene_variant,,ENST00000402707,,,MODIFIER,YES,,,-1","C","ENSG00000184357","ENST00000331442","Transcript","missense_variant","missense_variant","694/797","635/681","212/226","K/R","aAa/aGa","COSV58899267",null,-1,"H1-5","HGNC","HGNC:4719","protein_coding","YES","CCDS4635.1","ENSP00000330074","P16401.185",null,"UPI0000001BDA",null,"NM_005322.3","NM_005322.3","P1",null,"tolerated(0.53)","benign(0.19)","2024-01-01",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR11467:SF24;PANTHER:PTHR11467",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"TAGGTTTTGCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3861093","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HSP90AB1",3326,"BI","GRCh38","chr6",44251509,44251510,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1220dup","p.Asn407LysfsTer4","p.N407Kfs*4","ENST00000353801","2024-08-12",24,19,5,38,null,null,"HSP90AB1,frameshift_variant,p.N407Kfs*4,ENST00000371554,NM_001371238.1,c.1220dup,HIGH,YES,,,1;HSP90AB1,frameshift_variant,p.N407Kfs*4,ENST00000620073,NM_001271970.1,c.1220dup,HIGH,,,,1;HSP90AB1,frameshift_variant,p.N407Kfs*4,ENST00000353801,NM_001271969.1,c.1220dup,HIGH,,,,1;HSP90AB1,frameshift_variant,p.N407Kfs*4,ENST00000371646,NM_001271972.1&NM_001271971.1&NM_007355.4,c.1220dup,HIGH,,,,1;SLC35B2,downstream_gene_variant,,ENST00000393810,,,MODIFIER,,,,-1;SLC35B2,downstream_gene_variant,,ENST00000393812,NM_001286517.2&NM_178148.4,,MODIFIER,YES,,,-1;SLC35B2,downstream_gene_variant,,ENST00000537814,NM_001286519.1&NM_001286520.2,,MODIFIER,,,,-1;SLC35B2,downstream_gene_variant,,ENST00000538577,NM_001286513.1,,MODIFIER,,,,-1;SLC35B2,downstream_gene_variant,,ENST00000615337,NM_001286511.1&NM_001286509.2,,MODIFIER,,,,-1;SLC35B2,downstream_gene_variant,,ENST00000619636,NM_001286512.1&NM_001286510.2,,MODIFIER,,,,-1;MIR4647,downstream_gene_variant,,ENST00000583964,,,MODIFIER,YES,,,-1;SLC35B2,downstream_gene_variant,,ENST00000495706,,,MODIFIER,,,,-1","A","ENSG00000096384","ENST00000353801","Transcript","frameshift_variant","frameshift_variant","1337-1338/2582","1215-1216/2175","405-406/724","-/X","-/A",null,null,1,"HSP90AB1","HGNC","HGNC:5258","protein_coding",null,"CCDS4909.1","ENSP00000325875","P08238.250","A0A024RD80.52","UPI00001411EF",null,"NM_001271969.1",null,"P1",{"$nulls":3},"2024-08-12",null,"Gene3D:3.30.230.80;PDB-ENSP_mappings:3pry.A;PDB-ENSP_mappings:3pry.B;PDB-ENSP_mappings:3pry.C;PDB-ENSP_mappings:5fwk.A;PDB-ENSP_mappings:5fwk.B;PDB-ENSP_mappings:5fwl.A;PDB-ENSP_mappings:5fwl.B;PDB-ENSP_mappings:5fwm.A;PDB-ENSP_mappings:5fwm.B;PDB-ENSP_mappings:5fwp.A;PDB-ENSP_mappings:5fwp.B;HAMAP:MF_00505;Pfam:PF00183;PIRSF:PIRSF002583;PANTHER:PTHR11528;PANTHER:PTHR11528:SF79;Superfamily:SSF54211",{"$nulls":41},"HIGH",null,"insertion",1,5,null,1,"ATTCGCAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CRISP1",167,"BI","GRCh38","chr6",49835443,49835443,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.623C>A","p.Thr208Asn","p.T208N","ENST00000335847","2024-08-08",108,100,8,164,null,null,"CRISP1,missense_variant,p.T208N,ENST00000335847,NM_001131.3,c.623C>A,MODERATE,YES,deleterious(0),possibly_damaging(0.873),-1;CRISP1,missense_variant,p.D178E,ENST00000507853,NM_170609.2,c.534C>A,MODERATE,,tolerated(1),probably_damaging(0.915),-1;CRISP1,missense_variant,p.D178E,ENST00000329411,,c.534C>A,MODERATE,,tolerated(1),probably_damaging(0.915),-1;CRISP1,missense_variant,p.T208N,ENST00000505118,NM_001205220.1,c.623C>A,MODERATE,,deleterious(0),possibly_damaging(0.873),-1","T","ENSG00000124812","ENST00000335847","Transcript","missense_variant","missense_variant;splice_region_variant","732/1918","623/750","208/249","T/N","aCt/aAt","COSV100237140;COSV59992969;COSV59995583",null,-1,"CRISP1","HGNC","HGNC:304","protein_coding","YES","CCDS4931.1","ENSP00000338276","P54107.160","A0A0K0K1I1.33","UPI0000128482","P54107-1","NM_001131.3","NM_001131.3","P1",null,"deleterious(0)","possibly_damaging(0.873)","2024-08-08",null,"Pfam:PF08562;Gene3D:1.10.10.740;Superfamily:SSF57546;PANTHER:PTHR10334;PANTHER:PTHR10334:SF213",{"$nulls":33},"1;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1;1",null,"GGTTAGCTGAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3874646","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CEP57L1",285753,"BI","GRCh38","chr6",109145240,109145240,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.19C>T","p.His7Tyr","p.H7Y","ENST00000359793","2024-02-11",221,197,24,297,null,null,"CEP57L1,missense_variant,p.H7Y,ENST00000517392,NM_001083535.3&NM_001350655.2&NM_001350658.2&NM_001350653.2&NM_001350657.2&NM_001350652.2&NM_001350659.2&NM_001350654.2&NM_001271852.3,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000521277,NM_001350666.2,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.559),1;CEP57L1,missense_variant,p.H10Y,ENST00000523787,,c.28C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.862),1;CEP57L1,missense_variant,p.H7Y,ENST00000359793,NM_173830.5,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000521522,,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.642),1;CEP57L1,missense_variant,p.H7Y,ENST00000520883,NM_001350662.2&NM_001350660.2&NM_001350664.2&NM_001350661.2&NM_001350663.2,c.19C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.462),1;CEP57L1,missense_variant,p.H7Y,ENST00000407272,NM_001350665.2,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.559),1;CEP57L1,missense_variant,p.H7Y,ENST00000368970,NM_001350656.2,c.19C>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.572),1;CEP57L1,missense_variant,p.H7Y,ENST00000368968,NM_001271853.3,c.19C>T,MODERATE,,deleterious(0.05),possibly_damaging(0.862),1;CEP57L1,missense_variant,p.H7Y,ENST00000519286,,c.19C>T,MODERATE,,deleterious(0.05),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000519095,,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.559),1;CEP57L1,missense_variant,p.H7Y,ENST00000524064,,c.19C>T,MODERATE,,deleterious(0.05),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000518853,,c.19C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000518329,,c.19C>T,MODERATE,,deleterious_low_confidence(0.05),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000522608,,c.19C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000522461,,c.19C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.732),1;CEP57L1,missense_variant,p.H7Y,ENST00000521503,,c.19C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.732),1;CEP57L1,intron_variant,,ENST00000519407,,c.-254-1518C>T,MODIFIER,,,,1;CEP57L1,intron_variant,,ENST00000522490,,c.-254-1518C>T,MODIFIER,,,,1;CEP57L1,intron_variant,,ENST00000523209,,c.-254-1518C>T,MODIFIER,,,,1;CEP57L1,downstream_gene_variant,,ENST00000521737,,,MODIFIER,,,,1;CEP57L1,intron_variant,,ENST00000520610,,c.-254-1518C>T,MODIFIER,,,,1;CEP57L1,intron_variant,,ENST00000520761,,n.26-1518C>T,MODIFIER,,,,1","T","ENSG00000183137","ENST00000359793","Transcript","missense_variant","missense_variant","211/2515","19/1383","7/460","H/Y","Cat/Tat","COSV61244319",null,1,"CEP57L1","HGNC","HGNC:21561","protein_coding",null,"CCDS5071.1","ENSP00000352841","Q8IYX8.138",null,"UPI00000741C4","Q8IYX8-1","NM_173830.5",null,"P4",null,"deleterious(0.04)","possibly_damaging(0.732)","2024-02-11",null,"PANTHER:PTHR19336;PANTHER:PTHR19336:SF12",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TAATGCATAGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3857355","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MICAL1",64780,"BI","GRCh38","chr6",109450337,109450337,"+","Missense_Mutation","SNP","C","C","T","rs559938192",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1154G>A","p.Arg385His","p.R385H","ENST00000358807","2024-08-25",98,89,9,196,null,null,"MICAL1,missense_variant,p.R404H,ENST00000630715,NM_001286613.1,c.1211G>A,MODERATE,YES,deleterious(0.04),probably_damaging(0.97),-1;MICAL1,missense_variant,p.R385H,ENST00000358807,NM_022765.4,c.1154G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.728),-1;MICAL1,intron_variant,,ENST00000358577,NM_001159291.1,c.934-252G>A,MODIFIER,,,,-1;MICAL1,downstream_gene_variant,,ENST00000431946,,,MODIFIER,,,,-1;MICAL1,upstream_gene_variant,,ENST00000433205,,,MODIFIER,,,,-1;MICAL1,downstream_gene_variant,,ENST00000483856,,,MODIFIER,,,,-1;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,,n.1988G>A,MODIFIER,,,,-1;MICAL1,upstream_gene_variant,,ENST00000465904,,,MODIFIER,,,,-1","T","ENSG00000135596","ENST00000358807","Transcript","missense_variant","missense_variant","1251/3430","1154/3204","385/1067","R/H","cGc/cAc","rs559938192;COSV62192306",null,-1,"MICAL1","HGNC","HGNC:20619","protein_coding",null,"CCDS5076.1","ENSP00000351664","Q8TDZ2.179",null,"UPI00000745D0","Q8TDZ2-1","NM_022765.4","NM_022765.4","P2",null,"deleterious(0.04)","possibly_damaging(0.728)","2024-08-25",null,"PANTHER:PTHR24206:SF59;PANTHER:PTHR24206;Gene3D:3.50.50.70;Superfamily:SSF51905",0.0002,0,0,1E-3,0,0,null,null,"1.199e-05",0,"2.894e-05",0,"5.444e-05",0,"8.843e-06",0,0,1E-3,"EAS","1.3518299965653569e-05",0,0,0,0,0.000201693997951224,0,0,"1.543160033179447e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GCAGGCGGGCG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3857374;COSM3857375","N","Unknown",{"$nulls":3},"muse;mutect2"]
["RSPO3",84870,"BI","GRCh38","chr6",127119202,127119202,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.10C>T","p.Arg4Ter","p.R4*","ENST00000356698","2024-01-05",109,97,12,245,null,null,"RSPO3,stop_gained,p.R4*,ENST00000356698,NM_032784.5,c.10C>T,HIGH,,,,1;RSPO3,stop_gained,p.R4*,ENST00000368317,,c.10C>T,HIGH,YES,,,1;AL356534.1,intron_variant,,ENST00000650648,,n.402-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650684,,n.474-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650727,,n.441-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650823,,n.449-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650841,,n.441-22649G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650876,,n.230+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650891,,n.518+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650899,,n.468-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000650906,,n.666+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651038,,n.472-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651052,,n.89-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651273,,n.490-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651326,,n.404+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651338,,n.472-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651607,,n.473+58114G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651795,,n.441-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651850,,n.490-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651876,,n.996+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000651963,,n.139-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000652037,,n.350+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000652330,,n.465-48116G>A,MODIFIER,YES,,,-1;AL356534.1,intron_variant,,ENST00000652419,,n.92-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000652459,,n.435-48116G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000652460,,n.402+135G>A,MODIFIER,,,,-1;AL356534.1,intron_variant,,ENST00000652545,,n.490-48116G>A,MODIFIER,,,,-1;RSPO3,upstream_gene_variant,,ENST00000485757,,,MODIFIER,,,,1;AL356534.1,downstream_gene_variant,,ENST00000651110,,,MODIFIER,,,,-1;AL356534.1,upstream_gene_variant,,ENST00000651310,,,MODIFIER,,,,-1;AL356534.1,downstream_gene_variant,,ENST00000651421,,,MODIFIER,,,,-1;AL356534.1,upstream_gene_variant,,ENST00000651745,,,MODIFIER,,,,-1;AL356534.1,upstream_gene_variant,,ENST00000652186,,,MODIFIER,,,,-1","T","ENSG00000146374","ENST00000356698","Transcript","stop_gained","stop_gained","532/4815","10/819","4/272","R/*","Cga/Tga","COSV63149852",null,1,"RSPO3","HGNC","HGNC:20866","protein_coding",null,"CCDS5135.1","ENSP00000349131","Q9BXY4.148",null,"UPI0000043CB8","Q9BXY4-1","NM_032784.5","NM_032784.5","P4",{"$nulls":3},"2024-01-05",null,"Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR23275:SF40;PANTHER:PTHR23275",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"SNV",1,null,1,1,"ACTTGCGACTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3858056;COSM3858057","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TCF21",6943,"BI","GRCh38","chr6",133889407,133889407,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.10G>A","p.Gly4Ser","p.G4S","ENST00000237316","2024-01-03",105,94,11,203,null,null,"TCF21,missense_variant,p.G4S,ENST00000237316,NM_198392.3,c.10G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.997),1;TCF21,missense_variant,p.G4S,ENST00000367882,NM_003206.4,c.10G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),1;TARID,non_coding_transcript_exon_variant,,ENST00000630728,,n.1140C>T,MODIFIER,YES,,,-1;TARID,intron_variant,,ENST00000607573,,n.250+2280C>T,MODIFIER,,,,-1;TARID,intron_variant,,ENST00000607641,,n.1117-195C>T,MODIFIER,,,,-1;TARID,intron_variant,,ENST00000626104,,n.1117-664C>T,MODIFIER,,,,-1;TARID,intron_variant,,ENST00000630119,,n.1117-195C>T,MODIFIER,,,,-1;TARID,intron_variant,,ENST00000631362,,n.1117-1735C>T,MODIFIER,,,,-1;TARID,upstream_gene_variant,,ENST00000606544,,,MODIFIER,,,,-1;TARID,upstream_gene_variant,,ENST00000607033,,,MODIFIER,,,,-1","A","ENSG00000118526","ENST00000237316","Transcript","missense_variant","missense_variant","73/3010","10/540","4/179","G/S","Ggc/Agc","COSV52817974",null,1,"TCF21","HGNC","HGNC:11632","protein_coding","YES","CCDS5167.1","ENSP00000237316","O43680.164",null,"UPI0000001290",null,"NM_198392.3",null,"P1",null,"deleterious_low_confidence(0)","probably_damaging(0.997)","2024-01-03",null,"PANTHER:PTHR23349:SF67;PANTHER:PTHR23349",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCACCGGCTCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3858421","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ALDH8A1",64577,"BI","GRCh38","chr6",134918695,134918695,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1184C>A","p.Pro395Gln","p.P395Q","ENST00000265605","2024-07-07",120,107,12,173,null,null,"ALDH8A1,missense_variant,p.P395Q,ENST00000265605,NM_022568.4,c.1184C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;ALDH8A1,missense_variant,p.P341Q,ENST00000367845,NM_170771.3,c.1022C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ALDH8A1,missense_variant,p.P345Q,ENST00000367847,NM_001193480.2,c.1034C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ALDH8A1,missense_variant,p.P80Q,ENST00000460753,,c.239C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;ALDH8A1,3_prime_UTR_variant,,ENST00000349305,,c.*580C>A,MODIFIER,,,,-1","T","ENSG00000118514","ENST00000265605","Transcript","missense_variant","missense_variant","1232/2534","1184/1464","395/487","P/Q","cCa/cAa","COSV55640495",null,-1,"ALDH8A1","HGNC","HGNC:15471","protein_coding","YES","CCDS5171.1","ENSP00000265605","Q9H2A2.154",null,"UPI000004F8AE","Q9H2A2-1","NM_022568.4","NM_022568.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-07-07",null,"Gene3D:3.40.309.10;Gene3D:3.40.605.10;Pfam:PF00171;PANTHER:PTHR43720;PANTHER:PTHR43720:SF2;Superfamily:SSF53720;CDD:cd07093",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCACTGGACCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3858453","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARID1B",57492,"BI","GRCh38","chr6",156901403,156901403,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1765G>A","p.Val589Met","p.V589M","ENST00000350026","2024-03-19",42,30,12,109,null,null,"ARID1B,missense_variant,p.V685M,ENST00000346085,NM_001371656.1&NM_001374820.1,c.2053G>A,MODERATE,,tolerated_low_confidence(0.44),probably_damaging(0.956),1;ARID1B,missense_variant,p.V672M,ENST00000636930,NM_001374828.1,c.2014G>A,MODERATE,YES,tolerated_low_confidence(0.57),benign(0.237),1;ARID1B,missense_variant,p.V602M,ENST00000647938,,c.1804G>A,MODERATE,,tolerated_low_confidence(0.51),benign(0.078),1;ARID1B,missense_variant,p.V99M,ENST00000636748,,c.295G>A,MODERATE,,tolerated_low_confidence(0.72),probably_damaging(0.926),1;ARID1B,missense_variant,p.V589M,ENST00000350026,NM_017519.3,c.1765G>A,MODERATE,,tolerated_low_confidence(0.5),benign(0.035),1;ARID1B,missense_variant,p.V88M,ENST00000414678,,c.262G>A,MODERATE,,tolerated(0.59),benign(0.055),1;ARID1B,missense_variant,p.V586M,ENST00000674298,,c.1756G>A,MODERATE,,tolerated_low_confidence(0.57),possibly_damaging(0.699),1;ARID1B,missense_variant,p.V10M,ENST00000319584,,c.28G>A,MODERATE,,tolerated_low_confidence(0.58),benign(0.078),1;ARID1B,missense_variant,p.V78M,ENST00000638000,,c.232G>A,MODERATE,,tolerated_low_confidence(0.62),possibly_damaging(0.759),1;ARID1B,missense_variant,p.V14M,ENST00000637532,,c.40G>A,MODERATE,,tolerated_low_confidence(0.56),benign(0.078),1;ARID1B,non_coding_transcript_exon_variant,,ENST00000674190,,n.721G>A,MODIFIER,,,,1;ARID1B,non_coding_transcript_exon_variant,,ENST00000636205,,n.77G>A,MODIFIER,,,,1","A","ENSG00000049618","ENST00000350026","Transcript","missense_variant","missense_variant","1765/7962","1765/6711","589/2236","V/M","Gtg/Atg","COSV51651427",null,1,"ARID1B","HGNC","HGNC:18040","protein_coding",null,"CCDS5251.2","ENSP00000055163","Q8NFD5.176",null,"UPI000058E2EA","Q8NFD5-1","NM_017519.3",null,null,"cds_start_NF","tolerated_low_confidence(0.5)","benign(0.035)","2024-03-19",null,"PANTHER:PTHR12656;PANTHER:PTHR12656:SF11;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AAGGTGTGAGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3859963;COSM3859964","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SDK1",221935,"BI","GRCh38","chr7",4145877,4145877,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.4384G>A","p.Glu1462Lys","p.E1462K","ENST00000404826","29/45",65,58,7,114,null,null,"SDK1,missense_variant,p.E1462K,ENST00000404826,NM_152744.4,c.4384G>A,MODERATE,YES,tolerated(0.33),possibly_damaging(0.592),1;SDK1,missense_variant,p.E1462K,ENST00000615806,,c.4384G>A,MODERATE,,tolerated(0.33),benign(0.201),1;SDK1,missense_variant,p.E1462K,ENST00000389531,,c.4384G>A,MODERATE,,tolerated(0.31),possibly_damaging(0.66),1;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,NM_001079653.2,n.668G>A,MODIFIER,,,,1","A","ENSG00000146555","ENST00000404826","Transcript","missense_variant","missense_variant","4719/10593","4384/6642","1462/2213","E/K","Gag/Aag","COSV67359169;COSV67378124",null,1,"SDK1","HGNC","HGNC:19307","protein_coding","YES","CCDS34590.1","ENSP00000385899","Q7Z5N4.149",null,"UPI0000DBEEC4","Q7Z5N4-1","NM_152744.4","NM_152744.4","P4",null,"tolerated(0.33)","possibly_damaging(0.592)","29/45",null,"Gene3D:2.60.40.10;Pfam:PF00041;PROSITE_profiles:PS50853;PANTHER:PTHR13817;PANTHER:PTHR13817:SF55;Superfamily:SSF49265;CDD:cd00063",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"GGGGGGAGCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3880981","N","Unknown",{"$nulls":3},"muse;mutect2"]
["AGR3",155465,"BI","GRCh38","chr7",16860583,16860583,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.368A>G","p.Asp123Gly","p.D123G","ENST00000310398","2024-07-08",108,98,10,130,null,null,"AGR3,missense_variant,p.D123G,ENST00000310398,NM_176813.5,c.368A>G,MODERATE,YES,deleterious(0.02),probably_damaging(0.999),-1;AGR3,missense_variant,p.D123G,ENST00000402239,,c.368A>G,MODERATE,,deleterious(0.04),probably_damaging(0.99),-1;AGR3,missense_variant,p.D102G,ENST00000414935,,c.305A>G,MODERATE,,deleterious(0.02),benign(0.397),-1;RAD17P1,downstream_gene_variant,,ENST00000418130,,,MODIFIER,YES,,,-1","C","ENSG00000173467","ENST00000310398","Transcript","missense_variant","missense_variant;splice_region_variant","435/738","368/501","123/166","D/G","gAc/gGc","COSV60037347",null,-1,"AGR3","HGNC","HGNC:24167","protein_coding","YES","CCDS5365.1","ENSP00000308606","Q8TD06.125",null,"UPI0000040D21",null,"NM_176813.5","NM_176813.5","P1",null,"deleterious(0.02)","probably_damaging(0.999)","2024-07-08",null,"PDB-ENSP_mappings:3ph9.A;PDB-ENSP_mappings:3ph9.B;Superfamily:SSF52833;Pfam:PF13899;Gene3D:3.40.30.10;PANTHER:PTHR15337:SF5;PANTHER:PTHR15337;CDD:cd02960",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAGGGTCTGTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3879942","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SP4",6671,"BI","GRCh38","chr7",21481976,21481976,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1960T>C","p.Cys654Arg","p.C654R","ENST00000222584","2024-05-06",158,145,13,218,null,null,"SP4,missense_variant,p.C654R,ENST00000222584,NM_003112.5,c.1960T>C,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;SP4,missense_variant,p.C637R,ENST00000649633,NM_001326543.2&NM_001326542.2,c.1909T>C,MODERATE,,deleterious(0),probably_damaging(0.996),1;SP4,downstream_gene_variant,,ENST00000432066,,,MODIFIER,,,,1;SP4,3_prime_UTR_variant,,ENST00000448246,,c.*255T>C,MODIFIER,,,,1","C","ENSG00000105866","ENST00000222584","Transcript","missense_variant","missense_variant","2129/6077","1960/2355","654/784","C/R","Tgt/Cgt","COSV56021102",null,1,"SP4","HGNC","HGNC:11209","protein_coding","YES","CCDS5373.1","ENSP00000222584","Q02446.173",null,"UPI000013C807",null,"NM_003112.5","NM_003112.5","P1",null,"deleterious(0)","probably_damaging(0.996)","2024-05-06",null,"PROSITE_profiles:PS50157;PANTHER:PTHR23235:SF17;PANTHER:PTHR23235;PROSITE_patterns:PS00028;Gene3D:3.30.160.60;Pfam:PF00096;SMART:SM00355",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAGGATGTGGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3880088","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OSBPL3",26031,"BI","GRCh38","chr7",24861735,24861735,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.905A>G","p.His302Arg","p.H302R","ENST00000313367","2024-10-23",121,105,16,154,null,null,"OSBPL3,missense_variant,p.H302R,ENST00000313367,NM_015550.4,c.905A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;OSBPL3,missense_variant,p.H271R,ENST00000396431,NM_145320.2,c.812A>G,MODERATE,,deleterious(0),probably_damaging(1),-1;OSBPL3,missense_variant,p.H302R,ENST00000396429,NM_145321.2,c.905A>G,MODERATE,,deleterious(0.01),probably_damaging(0.979),-1;OSBPL3,missense_variant,p.H271R,ENST00000409069,NM_145322.2,c.812A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;OSBPL3,missense_variant,p.H271R,ENST00000409863,,c.812A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;OSBPL3,missense_variant,p.H302R,ENST00000409452,,c.905A>G,MODERATE,,deleterious(0),probably_damaging(0.996),-1;OSBPL3,missense_variant,p.H302R,ENST00000409759,,c.905A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;OSBPL3,missense_variant,p.H271R,ENST00000409555,,c.812A>G,MODERATE,,deleterious(0),probably_damaging(0.962),-1","C","ENSG00000070882","ENST00000313367","Transcript","missense_variant","missense_variant","1347/6749","905/2664","302/887","H/R","cAc/cGc","COSV57653757",null,-1,"OSBPL3","HGNC","HGNC:16370","protein_coding","YES","CCDS5390.1","ENSP00000315410","Q9H4L5.158",null,"UPI0000001244","Q9H4L5-1","NM_015550.4","NM_015550.4","P3",null,"deleterious(0)","probably_damaging(0.999)","2024-10-23",null,"PANTHER:PTHR10972;PANTHER:PTHR10972:SF15;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGGAGTGTAGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3880332","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NPC1L1",29881,"BI","GRCh38","chr7",44540113,44540113,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.284A>T","p.Gln95Leu","p.Q95L","ENST00000289547","2024-02-20",61,56,5,98,null,null,"NPC1L1,missense_variant,p.Q95L,ENST00000289547,NM_013389.3,c.284A>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;NPC1L1,missense_variant,p.Q95L,ENST00000381160,NM_001101648.2,c.284A>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;NPC1L1,missense_variant,p.Q95L,ENST00000546276,,c.284A>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NPC1L1,missense_variant,p.Q95L,ENST00000423141,NM_001300967.2,c.284A>T,MODERATE,,deleterious(0),probably_damaging(1),-1","A","ENSG00000015520","ENST00000289547","Transcript","missense_variant","missense_variant","340/5048","284/4080","95/1359","Q/L","cAg/cTg","COSV56923027",null,-1,"NPC1L1","HGNC","HGNC:7898","protein_coding","YES","CCDS5491.1","ENSP00000289547","Q9UHC9.158",null,"UPI000013DF88","Q9UHC9-1","NM_013389.3",null,"A2",null,"deleterious(0)","probably_damaging(1)","2024-02-20",null,"PDB-ENSP_mappings:3qnt.A;PANTHER:PTHR45727:SF3;PANTHER:PTHR45727;Pfam:PF16414",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCAGCTGCTTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3881253","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PKD1L1",168507,"BI","GRCh38","chr7",47929218,47929218,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1046A>G","p.His349Arg","p.H349R","ENST00000289672","7/57",141,132,9,210,null,null,"PKD1L1,missense_variant,p.H349R,ENST00000289672,NM_138295.5,c.1046A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.831),-1","C","ENSG00000158683","ENST00000289672","Transcript","missense_variant","missense_variant","1072/9105","1046/8550","349/2849","H/R","cAc/cGc","COSV56959459",null,-1,"PKD1L1","HGNC","HGNC:18053","protein_coding","YES","CCDS34633.1","ENSP00000289672","Q8TDX9.155",null,"UPI0000130FA9","Q8TDX9-1","NM_138295.5","NM_138295.5","P1",null,"deleterious(0)","possibly_damaging(0.831)","7/57",null,"PANTHER:PTHR10877;PANTHER:PTHR10877:SF145",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACTGGTGGTAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3881429","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ABCA13",154664,"BI","GRCh38","chr7",48352365,48352365,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.10566C>A","p.Tyr3522Ter","p.Y3522*","ENST00000435803","31/62",48,42,6,55,null,null,"ABCA13,stop_gained,p.Y3522*,ENST00000435803,NM_152701.5,c.10566C>A,HIGH,YES,,,1;ABCA13,stop_gained,p.Y829*,ENST00000544596,,c.2487C>A,HIGH,,,,1;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,,n.2485C>A,MODIFIER,,,,1;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,,n.1050C>A,MODIFIER,,,,1","A","ENSG00000179869","ENST00000435803","Transcript","stop_gained","stop_gained","10592/17188","10566/15177","3522/5058","Y/*","taC/taA","COSV71284327",null,1,"ABCA13","HGNC","HGNC:14638","protein_coding","YES","CCDS47584.1","ENSP00000411096",null,"A0A0A0MT16.43","UPI00043788D8",null,"NM_152701.5","NM_152701.5","P1",{"$nulls":3},"31/62",null,"PANTHER:PTHR19229;PANTHER:PTHR19229:SF113",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"AACTACGTCTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3881538;COSM3881539","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CUX1",1523,"BI","GRCh38","chr7",102196694,102196694,"+","Frame_Shift_Del","DEL","C","C","-","rs782381199",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1289del","p.Pro430LeufsTer27","p.P430Lfs*27","ENST00000292535","15/24",107,97,10,198,null,null,"CUX1,frameshift_variant,p.P441Lfs*27,ENST00000360264,NM_001202543.2,c.1322del,HIGH,YES,,,1;CUX1,frameshift_variant,p.P430Lfs*27,ENST00000292535,NM_181552.4,c.1289del,HIGH,,,,1;CUX1,frameshift_variant,p.P430Lfs*27,ENST00000546411,,c.1289del,HIGH,,,,1;CUX1,frameshift_variant,p.P441Lfs*27,ENST00000645010,,c.1322del,HIGH,,,,1;CUX1,frameshift_variant,p.P430Lfs*27,ENST00000549414,,c.1289del,HIGH,,,,1;CUX1,frameshift_variant,p.P430Lfs*27,ENST00000550008,,c.1289del,HIGH,,,,1;CUX1,intron_variant,,ENST00000292538,,c.1255+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000393824,NM_001202546.3,c.1138+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000425244,NM_001202545.3,c.1117+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000437600,NM_181500.4,c.1249+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000547394,NM_001202544.3,c.1207+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000556210,,c.1223-240del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000622516,NM_001913.5,c.1255+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000646649,,c.1256-240del,MODIFIER,,,,1;AC005086.1,upstream_gene_variant,,ENST00000517015,,,MODIFIER,YES,,,-1;CUX1,intron_variant,,ENST00000558836,,n.1361+1097del,MODIFIER,,,,1;CUX1,intron_variant,,ENST00000560541,,n.1527+1097del,MODIFIER,,,,1","-","ENSG00000257923","ENST00000292535","Transcript","frameshift_variant","frameshift_variant","1297/13723","1283/4518","428/1505","A/X","gCc/gc","rs782381199",null,1,"CUX1","HGNC","HGNC:2557","protein_coding",null,"CCDS5721.1","ENSP00000292535","P39880.190",null,"UPI0000246CDF","P39880-1","NM_181552.4","NM_181552.4","A2",{"$nulls":3},"15/24",null,"PANTHER:PTHR14043;PANTHER:PTHR14043:SF4;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",null,"deletion",1,6,null,1,"TGCCGGCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1568185","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PLXNA4",91584,"BI","GRCh38","chr7",132145267,132145267,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.5077G>A","p.Asp1693Asn","p.D1693N","ENST00000321063","29/32",96,90,5,91,null,null,"PLXNA4,missense_variant,p.D1693N,ENST00000359827,,c.5077G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.861),-1;PLXNA4,missense_variant,p.D1693N,ENST00000321063,NM_020911.1,c.5077G>A,MODERATE,,deleterious(0),possibly_damaging(0.861),-1;PLXNA4,non_coding_transcript_exon_variant,,ENST00000496550,,n.241G>A,MODIFIER,,,,-1","T","ENSG00000221866","ENST00000321063","Transcript","missense_variant","missense_variant","5306/13061","5077/5685","1693/1894","D/N","Gat/Aat","COSV58109643;COSV58153690",null,-1,"PLXNA4","HGNC","HGNC:9102","protein_coding",null,"CCDS43646.1","ENSP00000323194","Q9HCM2.156","A0A024R7A6.57","UPI000004E55B","Q9HCM2-1","NM_020911.1",null,"P1",null,"deleterious(0)","possibly_damaging(0.861)","29/32",null,"CDD:cd12790;PANTHER:PTHR22625;PANTHER:PTHR22625:SF34;Pfam:PF08337;Superfamily:SSF48350",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"1;1",null,"GTCATCCACAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3878127;COSM3878128","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR2A5",393046,"BI","GRCh38","chr7",144050885,144050885,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.484C>T","p.Leu162Phe","p.L162F","ENST00000408906","2024-01-01",299,268,31,433,null,null,"OR2A5,missense_variant,p.L162F,ENST00000641693,,c.484C>T,MODERATE,YES,deleterious(0.04),probably_damaging(1),1;OR2A5,missense_variant,p.L162F,ENST00000408906,NM_012365.1,c.484C>T,MODERATE,,deleterious(0.04),probably_damaging(1),1;OR2A5,intron_variant,,ENST00000641779,,n.186+1752C>T,MODIFIER,,,,1","T","ENSG00000221836","ENST00000408906","Transcript","missense_variant","missense_variant","518/1013","484/936","162/311","L/F","Ctc/Ttc","COSV68738554",null,1,"OR2A5","HGNC","HGNC:8232","protein_coding",null,"CCDS43668.1","ENSP00000386208","Q96R48.146","A0A126GW49.29","UPI0000061F52",null,"NM_012365.1",null,"P1",null,"deleterious(0.04)","probably_damaging(1)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15420;PANTHER:PTHR26453;PANTHER:PTHR26453:SF232;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TGGTTCTCATC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3879006","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR2A25",392138,"BI","GRCh38","chr7",144075020,144075020,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.801G>T","p.Lys267Asn","p.K267N","ENST00000408898","2024-01-01",322,294,28,430,null,null,"OR2A25,missense_variant,p.K267N,ENST00000641663,,c.801G>T,MODERATE,YES,deleterious(0.03),benign(0.012),1;OR2A25,missense_variant,p.K267N,ENST00000641441,,c.801G>T,MODERATE,,deleterious(0.03),benign(0.012),1;OR2A25,missense_variant,p.K267N,ENST00000408898,NM_001004488.1,c.801G>T,MODERATE,,deleterious(0.03),benign(0.012),1;OR2A41P,upstream_gene_variant,,ENST00000473586,,,MODIFIER,YES,,,1","T","ENSG00000221933","ENST00000408898","Transcript","missense_variant","missense_variant","839/1014","801/933","267/310","K/N","aaG/aaT","COSV68716932;COSV68716938",null,1,"OR2A25","HGNC","HGNC:19562","protein_coding",null,"CCDS43669.1","ENSP00000386167","A4D2G3.104","A0A126GVV5.27","UPI00002373C5",null,"NM_001004488.1",null,"P1",null,"deleterious(0.03)","benign(0.012)","2024-01-01",null,"PROSITE_profiles:PS50262;CDD:cd15420;PANTHER:PTHR26453:SF257;PANTHER:PTHR26453;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"1;1",null,"CCCAAGGAGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3879011","N","Unknown",{"$nulls":3},"muse;mutect2"]
["GIMAP6",474344,"BI","GRCh38","chr7",150628456,150628456,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.142A>G","p.Lys48Glu","p.K48E","ENST00000328902","2024-03-03",527,488,37,754,null,null,"GIMAP6,missense_variant,p.K118E,ENST00000618759,NM_001244072.1,c.352A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),-1;GIMAP6,missense_variant,p.K48E,ENST00000328902,NM_024711.6,c.142A>G,MODERATE,,deleterious(0),probably_damaging(0.997),-1;GIMAP6,intron_variant,,ENST00000493969,NM_001244071.2,c.86-168A>G,MODIFIER,,,,-1","C","ENSG00000133561","ENST00000328902","Transcript","missense_variant","missense_variant","359/3440","142/879","48/292","K/E","Aaa/Gaa","COSV61032685",null,-1,"GIMAP6","HGNC","HGNC:21918","protein_coding",null,"CCDS34778.1","ENSP00000330374","Q6P9H5.124","A0A090N7V4.30","UPI00001AE78F","Q6P9H5-1","NM_024711.6","NM_024711.6","A2",null,"deleterious(0)","probably_damaging(0.997)","2024-03-03",null,"PROSITE_profiles:PS51720;CDD:cd01852;PANTHER:PTHR10903;PANTHER:PTHR10903:SF61;Gene3D:3.40.50.300;Pfam:PF04548;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TGTTTTCCCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3879267","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PRAG1",157285,"BI","GRCh38","chr8",8318527,8318527,"+","Missense_Mutation","SNP","C","C","T","rs377087982",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3848G>A","p.Arg1283Gln","p.R1283Q","ENST00000622241","2024-05-05",40,33,7,47,null,null,"PRAG1,missense_variant,p.R1283Q,ENST00000615670,NM_001080826.3,c.3848G>A,MODERATE,YES,tolerated(0.16),probably_damaging(0.966),-1;PRAG1,missense_variant,p.R1283Q,ENST00000622241,NM_001369759.1,c.3848G>A,MODERATE,,tolerated(0.16),probably_damaging(0.966),-1","T","ENSG00000275342","ENST00000622241","Transcript","missense_variant","missense_variant","3848/4639","3848/4221","1283/1406","R/Q","cGg/cAg","rs377087982",null,-1,"PRAG1","HGNC","HGNC:25438","protein_coding",null,"CCDS43706.1","ENSP00000479068","Q86YV5.146",null,"UPI0003EAF98F",null,"NM_001369759.1",null,"P1",null,"tolerated(0.16)","probably_damaging(0.966)","2024-05-05",null,"PDB-ENSP_mappings:5ve6.A;Pfam:PF00069;PROSITE_profiles:PS50011;PANTHER:PTHR22972;PANTHER:PTHR22972:SF3;SMART:SM00220;Superfamily:SSF56112",{"$nulls":6},0.0002511,0,"4.085e-06",0,0,0,0,"4.846e-05",0,0,0,0.0002511,"AA","6.764889803889673e-06","2.433560075587593e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"MODERATE",null,"SNV",2,{"$nulls":3},"CCTGCCGGTAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DUSP26",78986,"BI","GRCh38","chr8",33592074,33592074,"+","Missense_Mutation","SNP","C","C","T","rs1488143221",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.575G>A","p.Arg192Gln","p.R192Q","ENST00000256261","2024-04-04",87,80,7,94,null,null,"DUSP26,missense_variant,p.R192Q,ENST00000256261,NM_001305115.1&NM_024025.3&NM_001305116.1,c.575G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.502),-1;DUSP26,missense_variant,p.R192Q,ENST00000523956,,c.575G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.502),-1;DUSP26,downstream_gene_variant,,ENST00000522982,,,MODIFIER,,,,-1","T","ENSG00000133878","ENST00000256261","Transcript","missense_variant","missense_variant","1010/1754","575/636","192/211","R/Q","cGg/cAg","rs1488143221;COSV56361002",null,-1,"DUSP26","HGNC","HGNC:28161","protein_coding","YES","CCDS6092.1","ENSP00000256261","Q9BV47.152",null,"UPI000003E899","Q9BV47-1","NM_001305115.1;NM_024025.3;NM_001305116.1","NM_024025.3","P1",null,"deleterious(0.01)","possibly_damaging(0.502)","2024-04-04",null,"PDB-ENSP_mappings:2e0t.A;PDB-ENSP_mappings:4b04.A;PDB-ENSP_mappings:4b04.B;PDB-ENSP_mappings:4b04.C;PDB-ENSP_mappings:4b04.D;PDB-ENSP_mappings:4hrf.A;PDB-ENSP_mappings:4hrf.B;PDB-ENSP_mappings:4hrf.C;PDB-ENSP_mappings:4hrf.D;PDB-ENSP_mappings:5gtj.A;PDB-ENSP_mappings:5gtj.B;PDB-ENSP_mappings:5gtj.C;PDB-ENSP_mappings:5gtj.D;CDD:cd14578;Pfam:PF00782;Gene3D:3.90.190.10;SMART:SM00195;Superfamily:SSF52799;PROSITE_profiles:PS50054;PANTHER:PTHR45682;PANTHER:PTHR45682:SF8",{"$nulls":8},"3.998e-06",0,0,0,0,0,0,0,"3.269e-05","3.269e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGCCCCGGTTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3899790","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OPRK1",4986,"BI","GRCh38","chr8",53250854,53250854,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.184A>G","p.Ile62Val","p.I62V","ENST00000265572","2024-02-04",40,36,4,72,null,null,"OPRK1,missense_variant,p.I62V,ENST00000265572,NM_000912.5&NM_001318497.2,c.184A>G,MODERATE,,deleterious(0.05),probably_damaging(0.995),-1;OPRK1,missense_variant,p.I62V,ENST00000673285,,c.184A>G,MODERATE,YES,tolerated(0.07),possibly_damaging(0.807),-1;OPRK1,missense_variant,p.I62V,ENST00000520287,,c.184A>G,MODERATE,,deleterious(0.05),probably_damaging(0.995),-1;OPRK1,missense_variant,p.I62V,ENST00000522508,,c.184A>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.968),-1","C","ENSG00000082556","ENST00000265572","Transcript","missense_variant","missense_variant","422/4954","184/1143","62/380","I/V","Atc/Gtc","COSV99653751",null,-1,"OPRK1","HGNC","HGNC:8154","protein_coding",null,"CCDS6152.1","ENSP00000265572","P41145.189",null,"UPI000011D794","P41145-1","NM_000912.5;NM_001318497.2","NM_000912.5","P1",null,"deleterious(0.05)","probably_damaging(0.995)","2024-02-04",null,"Gene3D:1.20.1070.10;PDB-ENSP_mappings:4djh.A;PDB-ENSP_mappings:4djh.B;PDB-ENSP_mappings:6b73.A;PDB-ENSP_mappings:6b73.B;PDB-ENSP_mappings:6vi4.A;PDB-ENSP_mappings:6vi4.B;Prints:PR00237;Prints:PR00532;PANTHER:PTHR24229;PANTHER:PTHR24229:SF1;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15091",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CGTGATGATGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["CSMD3",114788,"BI","GRCh38","chr8",112690039,112690039,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1984G>T","p.Glu662Ter","p.E662*","ENST00000297405","14/71",170,152,18,220,null,null,"CSMD3,stop_gained,p.E662*,ENST00000297405,NM_001363185.1&NM_198123.2,c.1984G>T,HIGH,YES,,,-1;CSMD3,stop_gained,p.E622*,ENST00000343508,NM_198124.2,c.1864G>T,HIGH,,,,-1;CSMD3,stop_gained,p.E558*,ENST00000455883,NM_052900.3,c.1672G>T,HIGH,,,,-1;CSMD3,stop_gained,p.E2*,ENST00000339701,,c.4G>T,HIGH,,,,-1","A","ENSG00000164796","ENST00000297405","Transcript","stop_gained","stop_gained","2069/13052","1984/11124","662/3707","E/*","Gaa/Taa","COSV52119892",null,-1,"CSMD3","HGNC","HGNC:19291","protein_coding","YES","CCDS6315.1","ENSP00000297405","Q7Z407.139",null,"UPI00001E0584","Q7Z407-1","NM_001363185.1;NM_198123.2","NM_198123.2","P1",{"$nulls":3},"14/71",null,"Gene3D:2.10.70.10;PROSITE_profiles:PS50923;PANTHER:PTHR45656;PANTHER:PTHR45656:SF9",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"ACTTTCTTTCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3884937;COSM3884938","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC45A4",57210,"BI","GRCh38","chr8",141218828,141218828,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.812C>T","p.Ala271Val","p.A271V","ENST00000517878","2024-05-09",118,103,15,182,null,null,"SLC45A4,missense_variant,p.A220V,ENST00000519067,NM_001286648.1,c.659C>T,MODERATE,,tolerated(0.35),benign(0.026),-1;SLC45A4,missense_variant,p.A271V,ENST00000517878,NM_001286646.2,c.812C>T,MODERATE,YES,tolerated(0.34),benign(0.035),-1;SLC45A4,missense_variant,p.A220V,ENST00000024061,NM_001080431.2,c.659C>T,MODERATE,,tolerated(0.28),benign(0.108),-1;SLC45A4,missense_variant,p.A78V,ENST00000520137,,c.233C>T,MODERATE,,tolerated(0.22),benign(0.023),-1;SLC45A4,downstream_gene_variant,,ENST00000519986,,,MODIFIER,,,,-1","A","ENSG00000022567","ENST00000517878","Transcript","missense_variant","missense_variant","1405/7418","812/2427","271/808","A/V","gCc/gTc","COSV50133934",null,-1,"SLC45A4","HGNC","HGNC:29196","protein_coding","YES","CCDS75795.1","ENSP00000428137",null,"E7EV90.62","UPI0001E8F5C7",null,"NM_001286646.2","NM_001286646.2",null,null,"tolerated(0.34)","benign(0.035)","2024-05-09",null,"Gene3D:1.20.1250.20;PANTHER:PTHR19432;PANTHER:PTHR19432:SF7;Superfamily:SSF103473",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCAGGGCGCCG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3897242;COSM4907296","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLEC",5339,"BI","GRCh38","chr8",143916818,143916818,"+","Missense_Mutation","SNP","C","C","T","rs1416802915",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.13414G>A","p.Ala4472Thr","p.A4472T","ENST00000322810","32/32",101,91,10,154,null,null,"PLEC,missense_variant,p.A4472T,ENST00000322810,NM_201380.4,c.13414G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PLEC,missense_variant,p.A4335T,ENST00000345136,NM_201384.3,c.13003G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4362T,ENST00000436759,NM_000445.5,c.13084G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4313T,ENST00000354958,NM_201379.3,c.12937G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4335T,ENST00000354589,NM_201382.4,c.13003G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4339T,ENST00000357649,NM_201383.3,c.13015G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4321T,ENST00000356346,NM_201378.4,c.12961G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4303T,ENST00000398774,NM_201381.3,c.12907G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A4358T,ENST00000527096,,c.13072G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLEC,missense_variant,p.A3235T,ENST00000527303,,c.9703G>A,MODERATE,,deleterious(0),probably_damaging(0.978),-1","T","ENSG00000178209","ENST00000322810","Transcript","missense_variant","missense_variant","13584/15249","13414/14055","4472/4684","A/T","Gcc/Acc","rs1416802915;COSV59610211",null,-1,"PLEC","HGNC","HGNC:9069","protein_coding","YES","CCDS43772.1","ENSP00000323856","Q15149.229",null,"UPI0000233FCD","Q15149-1","NM_201380.4",null,"P1",null,"deleterious(0)","probably_damaging(0.999)","32/32",null,"PDB-ENSP_mappings:2n03.A;Gene3D:3.90.1290.10;Pfam:PF00681;PANTHER:PTHR23169;PANTHER:PTHR23169:SF20;SMART:SM00250;Superfamily:SSF75399",{"$nulls":19},"1.352520030195592e-05",0,0,"6.626910180784762e-05",0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GACGGCGTCGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3897617;COSM3897618;COSM3897619;COSM3897620;COSM3897621;COSM3897622;COSM4907294","N","Unknown",{"$nulls":3},"muse;mutect2"]
["FOXD4",2298,"BI","GRCh38","chr9",117070,117070,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1050del","p.Cys351AlafsTer57","p.C351Afs*57","ENST00000382500","2024-01-01",72,62,10,255,null,null,"FOXD4,frameshift_variant,p.C351Afs*57,ENST00000382500,NM_207305.5,c.1050del,HIGH,YES,,,-1;CBWD1,downstream_gene_variant,,ENST00000314367,NM_001145355.1,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000356521,NM_018491.5,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000377400,,,MODIFIER,YES,,,-1;CBWD1,downstream_gene_variant,,ENST00000382447,NM_001145356.1,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000475990,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000613508,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000462513,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000487575,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000495302,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000464198,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000465014,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000475411,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000611457,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000612045,,,MODIFIER,,,,-1;CBWD1,downstream_gene_variant,,ENST00000619157,,,MODIFIER,,,,-1;LINC01388,upstream_gene_variant,,ENST00000416242,,,MODIFIER,YES,,,-1","-","ENSG00000170122","ENST00000382500","Transcript","frameshift_variant","frameshift_variant","1135/1974","1050/1320","350/439","P/X","ccC/cc",null,null,-1,"FOXD4","HGNC","HGNC:3805","protein_coding","YES","CCDS34975.1","ENSP00000371940","Q12950.164",null,"UPI00001AFF18",null,"NM_207305.5",null,"P1",{"$nulls":3},"2024-01-01",null,"PANTHER:PTHR11829;PANTHER:PTHR11829:SF350",{"$nulls":41},"HIGH",null,"deletion",{"$nulls":4},"GGAGCAGGGGGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MLLT3",4300,"BI","GRCh38","chr9",20620723,20620723,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.124A>G","p.Ser42Gly","p.S42G","ENST00000380338","2024-02-11",154,144,9,232,null,null,"MLLT3,missense_variant,p.S42G,ENST00000380338,NM_004529.4,c.124A>G,MODERATE,YES,tolerated(0.26),benign(0.137),-1;MLLT3,missense_variant,p.S39G,ENST00000630269,NM_001286691.2,c.115A>G,MODERATE,,tolerated(0.27),benign(0.137),-1;MLLT3,non_coding_transcript_exon_variant,,ENST00000475957,,n.308A>G,MODIFIER,,,,-1","C","ENSG00000171843","ENST00000380338","Transcript","missense_variant","missense_variant","367/6724","124/1707","42/568","S/G","Agt/Ggt","COSV63495461",null,-1,"MLLT3","HGNC","HGNC:7136","protein_coding","YES","CCDS6494.1","ENSP00000369695","P42568.173","A0A0S2Z448.25","UPI00002111CB","P42568-1","NM_004529.4","NM_004529.4","P4",null,"tolerated(0.26)","benign(0.137)","2024-02-11",null,"PDB-ENSP_mappings:2ndf.A;PDB-ENSP_mappings:2ndg.A;PDB-ENSP_mappings:4tmp.A;PDB-ENSP_mappings:4tmp.C;PDB-ENSP_mappings:5hjb.A;PDB-ENSP_mappings:5hjd.A;PDB-ENSP_mappings:5hjd.C;PDB-ENSP_mappings:5hjd.E;PDB-ENSP_mappings:5hjd.G;PDB-ENSP_mappings:5hjd.K;PDB-ENSP_mappings:5hjd.N;PDB-ENSP_mappings:5hjd.Q;PDB-ENSP_mappings:5hjd.T;PDB-ENSP_mappings:5yyf.A;PDB-ENSP_mappings:5yyf.C;PDB-ENSP_mappings:6mil.A;PDB-ENSP_mappings:6mil.C;PDB-ENSP_mappings:6mim.A;PDB-ENSP_mappings:6mim.C;PROSITE_profiles:PS51037;CDD:cd16906;PANTHER:PTHR23195:SF25;PANTHER:PTHR23195;Gene3D:2.60.40.1970;Pfam:PF03366",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GTTACTGTGCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3906523","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TAF1L",138474,"BI","GRCh38","chr9",32634325,32634325,"+","Missense_Mutation","SNP","C","C","T","rs1415581932",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1255G>A","p.Glu419Lys","p.E419K","ENST00000242310","2024-01-01",282,254,28,468,null,null,"TAF1L,missense_variant,p.E419K,ENST00000242310,NM_153809.2,c.1255G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.836),-1;AL589642.1,non_coding_transcript_exon_variant,,ENST00000430787,,n.872C>T,MODIFIER,YES,,,1","T","ENSG00000122728","ENST00000242310","Transcript","missense_variant","missense_variant","1345/6216","1255/5481","419/1826","E/K","Gaa/Aaa","rs1415581932;COSV54258694",null,-1,"TAF1L","HGNC","HGNC:18056","protein_coding","YES","CCDS35003.1","ENSP00000418379","Q8IZX4.147",null,"UPI000007408A",null,"NM_153809.2","NM_153809.2","P1",null,"deleterious(0.03)","possibly_damaging(0.836)","2024-01-01",null,"PIRSF:PIRSF003047;PANTHER:PTHR13900;PANTHER:PTHR13900:SF2",{"$nulls":8},"3.977e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS","6.759220013918821e-06","2.4314300389960408e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"GTTTTCGTCAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1108247","N","Unknown",{"$nulls":3},"muse;mutect2"]
["NTRK2",4915,"BI","GRCh38","chr9",84724306,84724306,"+","Missense_Mutation","SNP","C","C","T","rs997635600",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.803C>T","p.Ala268Val","p.A268V","ENST00000323115","2024-08-18",202,148,53,306,null,null,"NTRK2,missense_variant,p.A268V,ENST00000376213,NM_001369532.1&NM_001369533.1&NM_001018064.3&NM_001369535.1,c.803C>T,MODERATE,,tolerated(0.06),probably_damaging(0.987),1;NTRK2,missense_variant,p.A268V,ENST00000277120,NM_006180.6&NM_001369536.1,c.803C>T,MODERATE,YES,tolerated(0.06),probably_damaging(0.977),1;NTRK2,missense_variant,p.A268V,ENST00000376208,NM_001018066.3&NM_001369538.1,c.803C>T,MODERATE,,deleterious(0.05),probably_damaging(0.995),1;NTRK2,missense_variant,p.A268V,ENST00000323115,NM_001369534.1,c.803C>T,MODERATE,,tolerated(0.06),probably_damaging(0.987),1;NTRK2,missense_variant,p.A268V,ENST00000304053,NM_001369537.1&NM_001018065.2,c.803C>T,MODERATE,,deleterious(0.05),probably_damaging(0.995),1;NTRK2,missense_variant,p.A268V,ENST00000395882,NM_001369544.1&NM_001291937.2&NM_001007097.3&NM_001369543.1&NM_001369541.1,c.803C>T,MODERATE,,tolerated(0.07),probably_damaging(0.997),1;NTRK2,missense_variant,p.A268V,ENST00000359847,NM_001369542.1&NM_001369545.1&NM_001369539.1&NM_001369540.1&NM_001369547.1&NM_001369546.1&NM_001369548.1&NM_001369549.1&NM_001369550.1&NM_001369551.1&NM_001369552.1,c.803C>T,MODERATE,,tolerated(0.07),probably_damaging(0.997),1","T","ENSG00000148053","ENST00000323115","Transcript","missense_variant","missense_variant","1335/8618","803/2469","268/822","A/V","gCg/gTg","rs997635600;COSV52856453",null,1,"NTRK2","HGNC","HGNC:8032","protein_coding",null,"CCDS35050.1","ENSP00000314586","Q16620.221","Q548C2.108","UPI0000000C0E","Q16620-1","NM_001369534.1",null,"A1",null,"tolerated(0.06)","probably_damaging(0.987)","2024-08-18",null,"Gene3D:2.60.40.10;Pfam:PF07679;Prints:PR01939;PROSITE_profiles:PS50835;PANTHER:PTHR24416;PANTHER:PTHR24416:SF136;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096",{"$nulls":19},"1.3526299881050363e-05","2.4339200535905547e-05",0,"6.632180156884715e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"TGTGGCGGAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3908572;COSM3908573;COSM3908574;COSM3908575","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NTRK2",4915,"BI","GRCh38","chr9",84934273,84934273,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1697A>C","p.Lys566Thr","p.K566T","ENST00000323115","14/18",65,58,7,88,null,null,"NTRK2,missense_variant,p.K566T,ENST00000376213,NM_001369532.1&NM_001369533.1&NM_001018064.3&NM_001369535.1,c.1697A>C,MODERATE,,deleterious(0),probably_damaging(1),1;NTRK2,missense_variant,p.K582T,ENST00000277120,NM_006180.6&NM_001369536.1,c.1745A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;NTRK2,missense_variant,p.K566T,ENST00000323115,NM_001369534.1,c.1697A>C,MODERATE,,deleterious(0),probably_damaging(1),1","C","ENSG00000148053","ENST00000323115","Transcript","missense_variant","missense_variant","2229/8618","1697/2469","566/822","K/T","aAg/aCg","COSV52856485",null,1,"NTRK2","HGNC","HGNC:8032","protein_coding",null,"CCDS35050.1","ENSP00000314586","Q16620.221","Q548C2.108","UPI0000000C0E","Q16620-1","NM_001369534.1",null,"A1",null,"deleterious(0)","probably_damaging(1)","14/18",null,"Gene3D:3.30.200.20;PDB-ENSP_mappings:4asz.A;PDB-ENSP_mappings:4at3.A;PDB-ENSP_mappings:4at4.A;PDB-ENSP_mappings:4at5.A;Pfam:PF07714;PROSITE_patterns:PS00107;PROSITE_profiles:PS50011;PANTHER:PTHR24416;PANTHER:PTHR24416:SF136;SMART:SM00219;Superfamily:SSF56112;CDD:cd05093",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGACAAGATCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3908594;COSM3908595","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BICD2",23299,"BI","GRCh38","chr9",92729082,92729082,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.395T>C","p.Leu132Pro","p.L132P","ENST00000375512","2024-02-08",52,46,6,112,null,null,"BICD2,missense_variant,p.L132P,ENST00000356884,NM_001003800.2,c.395T>C,MODERATE,YES,deleterious(0.04),benign(0.01),-1;BICD2,missense_variant,p.L132P,ENST00000375512,NM_015250.4,c.395T>C,MODERATE,,deleterious(0.05),benign(0.018),-1","G","ENSG00000185963","ENST00000375512","Transcript","missense_variant","missense_variant","463/4636","395/2475","132/824","L/P","cTc/cCc","COSV63548173",null,-1,"BICD2","HGNC","HGNC:17208","protein_coding",null,"CCDS6700.1","ENSP00000364662","Q8TD16.160",null,"UPI00000710B6","Q8TD16-1","NM_015250.4",null,"A2",null,"deleterious(0.05)","benign(0.018)","2024-02-08",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF09730;PANTHER:PTHR31233;PANTHER:PTHR31233:SF7",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TGGTGAGGACA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3908921;COSM4907293","N","Unknown",{"$nulls":3},"muse;mutect2"]
["NR4A3",8013,"BI","GRCh38","chr9",99828200,99828200,"+","Missense_Mutation","SNP","C","C","T","rs529538777",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.158C>T","p.Thr53Met","p.T53M","ENST00000395097","2024-03-08",92,81,11,174,null,null,"NR4A3,missense_variant,p.T64M,ENST00000618101,NM_173200.2,c.191C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;NR4A3,missense_variant,p.T53M,ENST00000395097,NM_006981.4,c.158C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;NR4A3,missense_variant,p.T64M,ENST00000330847,,c.191C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;NR4A3,missense_variant,p.T53M,ENST00000338488,NM_173199.3,c.158C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;STX17-AS1,intron_variant,,ENST00000655615,,n.268+10786G>A,MODIFIER,YES,,,-1","T","ENSG00000119508","ENST00000395097","Transcript","missense_variant","missense_variant","857/5604","158/1881","53/626","T/M","aCg/aTg","rs529538777;COSV58243670",null,1,"NR4A3","HGNC","HGNC:7982","protein_coding",null,"CCDS6743.1","ENSP00000378531","Q92570.197","A0A024R168.52","UPI000013CA3D","Q92570-1","NM_006981.4","NM_006981.4","P4",null,"deleterious(0)","probably_damaging(0.997)","2024-03-08",null,"Prints:PR01284;PANTHER:PTHR24085;PANTHER:PTHR24085:SF2",{"$nulls":8},"7.955e-06",0,0,0,0,0,"1.759e-05",0,0,"1.759e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CACCACGTCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3902545;COSM3902546","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NIPSNAP3B",55335,"BI","GRCh38","chr9",104770866,104770866,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.448G>T","p.Val150Phe","p.V150F","ENST00000374762","2024-04-06",87,70,16,172,null,null,"NIPSNAP3B,missense_variant,p.V150F,ENST00000374762,NM_018376.4,c.448G>T,MODERATE,YES,deleterious(0),benign(0.007),1;NIPSNAP3B,non_coding_transcript_exon_variant,,ENST00000461177,,n.283G>T,MODIFIER,,,,1;NIPSNAP3B,intron_variant,,ENST00000460936,,c.430+1845G>T,MODIFIER,,,,1","T","ENSG00000165028","ENST00000374762","Transcript","missense_variant","missense_variant","560/5547","448/744","150/247","V/F","Gtt/Ttt","COSV66106427",null,1,"NIPSNAP3B","HGNC","HGNC:23641","protein_coding","YES","CCDS6761.1","ENSP00000363894","Q9BS92.133",null,"UPI0000130553",null,"NM_018376.4","NM_018376.4","P1",null,"deleterious(0)","benign(0.007)","2024-04-06",null,"PANTHER:PTHR21017:SF18;PANTHER:PTHR21017;Pfam:PF07978;Gene3D:3.30.70.100;Superfamily:SSF54909",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TAGCTGTTTTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3902730","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NUP214",8021,"BI","GRCh38","chr9",131132606,131132606,"+","Frame_Shift_Del","DEL","A","A","-","rs771913112",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.681del","p.Val228SerfsTer29","p.V228Sfs*29","ENST00000359428","6/36",63,54,8,112,null,null,"NUP214,frameshift_variant,p.V228Sfs*29,ENST00000359428,NM_005085.4,c.681del,HIGH,YES,,,1;NUP214,frameshift_variant,p.V228Sfs*29,ENST00000411637,NM_001318324.2,c.681del,HIGH,,,,1;NUP214,frameshift_variant,p.V228Sfs*29,ENST00000652454,,c.681del,HIGH,,,,1;NUP214,frameshift_variant,p.V217Sfs*29,ENST00000651022,,c.647del,HIGH,,,,1;NUP214,frameshift_variant,p.V138Sfs*29,ENST00000651639,,c.411del,HIGH,,,,1;NUP214,intron_variant,,ENST00000451030,,c.-108+6440del,MODIFIER,,,,1;NUP214,upstream_gene_variant,,ENST00000530863,,,MODIFIER,,,,1;NUP214,downstream_gene_variant,,ENST00000531584,,,MODIFIER,,,,1;NUP214,downstream_gene_variant,,ENST00000526412,,,MODIFIER,,,,1;NUP214,upstream_gene_variant,,ENST00000530843,,,MODIFIER,,,,1;NUP214,upstream_gene_variant,,ENST00000525561,,,MODIFIER,,,,1;AL157938.2,downstream_gene_variant,,ENST00000415391,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000586290,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000587264,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000587408,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000588378,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000589540,,,MODIFIER,YES,,,-1;AL157938.2,downstream_gene_variant,,ENST00000589667,,,MODIFIER,,,,-1;AL157938.2,downstream_gene_variant,,ENST00000590461,,,MODIFIER,,,,-1","-","ENSG00000126883","ENST00000359428","Transcript","frameshift_variant","frameshift_variant","793/7568","674/6273","225/2090","E/X","gAa/ga","rs771913112;COSV63912486",null,1,"NUP214","HGNC","HGNC:8064","protein_coding","YES","CCDS6940.1","ENSP00000352400","P35658.203",null,"UPI00001BBB2F","P35658-1","NM_005085.4","NM_005085.4","P4",{"$nulls":3},"6/36",null,"Gene3D:2.130.10.10;PDB-ENSP_mappings:2oit.A;PDB-ENSP_mappings:3fhc.A;PDB-ENSP_mappings:3fmo.A;PDB-ENSP_mappings:3fmp.A;PDB-ENSP_mappings:3fmp.C;PANTHER:PTHR23193;PANTHER:PTHR23193:SF21;Superfamily:SSF117289",{"$nulls":8},"8.008e-06",0,0,0,0,0,"1.768e-05",0,0,"1.768e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",1,"TGCAGGAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1460589;COSM4338886","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ANAPC2",29882,"BI","GRCh38","chr9",137180232,137180232,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1839G>T","p.Glu613Asp","p.E613D","ENST00000323927","2024-10-13",58,52,5,82,null,null,"ANAPC2,missense_variant,p.E613D,ENST00000323927,NM_013366.4,c.1839G>T,MODERATE,YES,tolerated(0.42),benign(0.003),-1;ANAPC2,non_coding_transcript_exon_variant,,ENST00000483432,,n.179G>T,MODIFIER,,,,-1;ANAPC2,upstream_gene_variant,,ENST00000485970,,,MODIFIER,,,,-1;ANAPC2,downstream_gene_variant,,ENST00000471131,,,MODIFIER,,,,-1;ANAPC2,upstream_gene_variant,,ENST00000487917,,,MODIFIER,,,,-1;ANAPC2,upstream_gene_variant,,ENST00000493730,,,MODIFIER,,,,-1;ANAPC2,downstream_gene_variant,,ENST00000495611,,,MODIFIER,,,,-1","A","ENSG00000176248","ENST00000323927","Transcript","missense_variant","missense_variant","1867/2655","1839/2469","613/822","E/D","gaG/gaT","COSV60568772",null,-1,"ANAPC2","HGNC","HGNC:19989","protein_coding","YES","CCDS7033.1","ENSP00000314004","Q9UJX6.183",null,"UPI0000043E1B","Q9UJX6-1","NM_013366.4","NM_013366.4","P1",null,"tolerated(0.42)","benign(0.003)","2024-10-13",null,"PDB-ENSP_mappings:4ui9.N;PDB-ENSP_mappings:5a31.N;PDB-ENSP_mappings:5g04.N;PDB-ENSP_mappings:5g05.N;PDB-ENSP_mappings:5khr.N;PDB-ENSP_mappings:5khu.N;PDB-ENSP_mappings:5l9t.N;PDB-ENSP_mappings:5l9u.N;PDB-ENSP_mappings:5lcw.N;PDB-ENSP_mappings:6q6g.N;PDB-ENSP_mappings:6q6h.N;PDB-ENSP_mappings:6tlj.N;PDB-ENSP_mappings:6tm5.N;PROSITE_profiles:PS50069;PANTHER:PTHR45957;Gene3D:1.10.10.2620;Pfam:PF00888;SMART:SM00182;Superfamily:SSF75632",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATATCCTCGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3905987","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MKX",283078,"BI","GRCh38","chr10",27734679,27734679,"+","Missense_Mutation","SNP","C","C","A","rs1478135013",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.615G>T","p.Glu205Asp","p.E205D","ENST00000375790","2024-05-07",109,96,13,197,null,null,"MKX,missense_variant,p.E205D,ENST00000375790,,c.615G>T,MODERATE,YES,tolerated(0.55),benign(0),-1;MKX,missense_variant,p.E205D,ENST00000419761,NM_001242702.2&NM_173576.3,c.615G>T,MODERATE,,tolerated(0.55),benign(0),-1;MKX,missense_variant,p.E205D,ENST00000460919,,c.615G>T,MODERATE,,tolerated(0.48),benign(0.001),-1","A","ENSG00000150051","ENST00000375790","Transcript","missense_variant","missense_variant","1048/3846","615/1059","205/352","E/D","gaG/gaT","rs1478135013;COSV65391665",null,-1,"MKX","HGNC","HGNC:23729","protein_coding","YES","CCDS7156.1","ENSP00000364946","Q8IYA7.143",null,"UPI0000161911",{"$nulls":3},"P1",null,"tolerated(0.55)","benign(0)","2024-05-07",null,"PANTHER:PTHR11211;PANTHER:PTHR11211:SF3",{"$nulls":8},"3.977e-06",0,0,0,0,0,0,1.629E-4,0,1.629E-4,"gnomAD_OTH",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CGTGACTCTGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4013599","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPC1",80314,"BI","GRCh38","chr10",32287202,32287202,"+","Missense_Mutation","SNP","C","C","T","rs779179625",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1048G>A","p.Ala350Thr","p.A350T","ENST00000263062","2024-07-15",94,83,11,155,null,null,"EPC1,missense_variant,p.A350T,ENST00000319778,NM_001272019.4&NM_001382755.1&NM_001382753.1&NM_001272004.3,c.1048G>A,MODERATE,,tolerated(0.58),benign(0.009),-1;EPC1,missense_variant,p.A300T,ENST00000375110,NM_001282391.3&NM_001382754.1,c.898G>A,MODERATE,,tolerated(0.58),benign(0.001),-1;EPC1,missense_variant,p.A350T,ENST00000263062,NM_025209.5,c.1048G>A,MODERATE,YES,tolerated(0.61),benign(0),-1;EPC1,missense_variant,p.A350T,ENST00000667706,NM_001382756.1,c.1048G>A,MODERATE,,tolerated(0.41),benign(0.006),-1;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,,n.2125G>A,MODIFIER,,,,-1;EPC1,non_coding_transcript_exon_variant,,ENST00000479380,,n.1089G>A,MODIFIER,,,,-1;AL158834.1,downstream_gene_variant,,ENST00000419441,,,MODIFIER,YES,,,1","T","ENSG00000120616","ENST00000263062","Transcript","missense_variant","missense_variant","1318/2913","1048/2511","350/836","A/T","Gct/Act","rs779179625;COSV53923600",null,-1,"EPC1","HGNC","HGNC:19876","protein_coding","YES","CCDS7172.1","ENSP00000263062","Q9H2F5.162",null,"UPI000006F77F","Q9H2F5-1","NM_025209.5",{"$nulls":3},"tolerated(0.61)","benign(0)","2024-07-15",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR14898;PANTHER:PTHR14898:SF6",{"$nulls":8},"2.386e-05",0,0,0,0.0001631,0,0,0,"9.799e-05",0.0001631,"gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGCAGCGGCAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4013849","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PTEN",5728,"BI","GRCh38","chr10",87957915,87957915,"+","Nonsense_Mutation","SNP","C","C","T","rs121909219",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.697C>T","p.Arg233Ter","p.R233*","ENST00000371953","2024-07-09",100,84,16,159,null,null,"PTEN,stop_gained,p.R233*,ENST00000371953,NM_001304717.5&NM_000314.8,c.697C>T,HIGH,YES,,,1;PTEN,stop_gained,p.R42*,ENST00000472832,NM_001304718.2,c.124C>T,HIGH,,,,1","T","ENSG00000171862","ENST00000371953","Transcript","stop_gained","stop_gained","1542/8515","697/1212","233/403","R/*","Cga/Tga","rs121909219;CM971277;COSV64288653;COSV64291717;COSV64302607;COSV64306399;COSV64306519;COSV64311585;COSV99058021",null,1,"PTEN","HGNC","HGNC:9588","protein_coding","YES","CCDS31238.1","ENSP00000361021","P60484.196","F6KD01.79","UPI00001328C5","P60484-1","NM_001304717.5;NM_000314.8","NM_000314.8","P1",{"$nulls":3},"2024-07-09",null,"PDB-ENSP_mappings:1d5r.A;PDB-ENSP_mappings:5bug.A;PDB-ENSP_mappings:5bug.B;PDB-ENSP_mappings:5bug.C;PDB-ENSP_mappings:5bug.D;PDB-ENSP_mappings:5bzx.A;PDB-ENSP_mappings:5bzx.B;PDB-ENSP_mappings:5bzx.C;PDB-ENSP_mappings:5bzx.D;PDB-ENSP_mappings:5bzz.A;PDB-ENSP_mappings:5bzz.B;PDB-ENSP_mappings:5bzz.C;PDB-ENSP_mappings:5bzz.D;PROSITE_profiles:PS51182;PANTHER:PTHR12305:SF81;PANTHER:PTHR12305;Gene3D:2.60.40.1110;Pfam:PF10409;PIRSF:PIRSF038025;SMART:SM01326;Superfamily:SSF49562",{"$nulls":32},"pathogenic;not_provided","0;0;1;1;1;1;1;1;1","25741868;15016963;15254419;15647370;18725974;19366826;19903786;20453058;20619739;22162582;22162589;9140396;28526761;1336932;9241266;9259288;9598803;10555148;10923032;11504908;19351834;20018398;20085938;20881644;21194675;22479427;23335809;27426521",{"$nulls":6},"HIGH",1,"SNV",1,null,"1;1;1;1;1;1;1;1;1",1,"CCACACGACGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM5154","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PTEN",5728,"BI","GRCh38","chr10",87958013,87958013,"+","Frame_Shift_Del","DEL","A","A","-","rs121913289",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.800del","p.Lys267ArgfsTer9","p.K267Rfs*9","ENST00000371953","2024-07-09",76,68,8,82,null,null,"PTEN,frameshift_variant,p.K267Rfs*9,ENST00000371953,NM_001304717.5&NM_000314.8,c.800del,HIGH,YES,,,1;PTEN,frameshift_variant,p.K76Rfs*9,ENST00000472832,NM_001304718.2,c.227del,HIGH,,,,1","-","ENSG00000171862","ENST00000371953","Transcript","frameshift_variant","frameshift_variant","1640/8515","795/1212","265/403","L/X","ctA/ct","rs121913289",null,1,"PTEN","HGNC","HGNC:9588","protein_coding","YES","CCDS31238.1","ENSP00000361021","P60484.196","F6KD01.79","UPI00001328C5","P60484-1","NM_001304717.5;NM_000314.8","NM_000314.8","P1",{"$nulls":3},"2024-07-09",null,"PDB-ENSP_mappings:1d5r.A;PDB-ENSP_mappings:5bug.A;PDB-ENSP_mappings:5bug.B;PDB-ENSP_mappings:5bug.C;PDB-ENSP_mappings:5bug.D;PDB-ENSP_mappings:5bzx.A;PDB-ENSP_mappings:5bzx.B;PDB-ENSP_mappings:5bzx.C;PDB-ENSP_mappings:5bzx.D;PDB-ENSP_mappings:5bzz.A;PDB-ENSP_mappings:5bzz.B;PDB-ENSP_mappings:5bzz.C;PDB-ENSP_mappings:5bzz.D;PROSITE_profiles:PS51182;PANTHER:PTHR12305:SF81;PANTHER:PTHR12305;Gene3D:2.60.40.1110;Pfam:PF10409;PIRSF:PIRSF038025;SMART:SM01326;Superfamily:SSF49562",{"$nulls":32},"pathogenic",null,"23757202;15016963;15254419;15647370;18725974;19366826;19903786;20453058;20619739;22162582;22162589;10555148;11504908;20085938",{"$nulls":6},"HIGH",1,"deletion",1,5,1,1,"GATGCTAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM30622","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["DNTT",1791,"BI","GRCh38","chr10",96319344,96319344,"+","Missense_Mutation","SNP","C","C","T","rs1377933772",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.461C>T","p.Ala154Val","p.A154V","ENST00000371174","2024-03-11",192,182,10,350,null,null,"DNTT,missense_variant,p.A154V,ENST00000630152,NM_001017520.2,c.461C>T,MODERATE,,deleterious(0),probably_damaging(0.965),1;DNTT,missense_variant,p.A154V,ENST00000371174,NM_004088.4,c.461C>T,MODERATE,YES,deleterious(0),probably_damaging(0.924),1","T","ENSG00000107447","ENST00000371174","Transcript","missense_variant","missense_variant","525/1934","461/1530","154/509","A/V","gCg/gTg","rs1377933772;COSV64522736",null,1,"DNTT","HGNC","HGNC:2983","protein_coding","YES","CCDS7447.1","ENSP00000360216","P04053.203",null,"UPI000013C84B","P04053-1","NM_004088.4","NM_004088.4","P4",null,"deleterious(0)","probably_damaging(0.924)","2024-03-11",null,"Gene3D:1.10.150.110;PIRSF:PIRSF000817;PIRSF:PIRSF501175;PANTHER:PTHR11276;PANTHER:PTHR11276:SF21;Superfamily:SSF47802",{"$nulls":8},"1.194e-05",0,0,0,0,0.0001386,0,0,0,0.0001386,"gnomAD_FIN","6.760590167687042e-06",0,0,0,0,0,"9.421519644092768e-05",0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GTATGCGTGTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4016979","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ADD3",120,"BI","GRCh38","chr10",110133592,110133592,"+","Frame_Shift_Del","DEL","A","A","-","rs760140619",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2102del","p.Lys701ArgfsTer8","p.K701Rfs*8","ENST00000356080","15/15",87,70,17,212,null,null,"ADD3,frameshift_variant,p.K701Rfs*8,ENST00000356080,NM_001320591.2&NM_001320592.2&NM_001320593.2&NM_001320594.2&NM_016824.5,c.2102del,HIGH,YES,,,1;ADD3,frameshift_variant,p.K669Rfs*8,ENST00000277900,NM_001121.4,c.2006del,HIGH,,,,1;ADD3,frameshift_variant,p.K669Rfs*8,ENST00000360162,NM_019903.5,c.2006del,HIGH,,,,1;ADD3,downstream_gene_variant,,ENST00000472568,,,MODIFIER,,,,1;ADD3,downstream_gene_variant,,ENST00000479805,,,MODIFIER,,,,1;ADD3,downstream_gene_variant,,ENST00000488799,,,MODIFIER,,,,1;ADD3,downstream_gene_variant,,ENST00000492162,,,MODIFIER,,,,1","-","ENSG00000148700","ENST00000356080","Transcript","frameshift_variant","frameshift_variant","2440/4413","2095/2121","699/706","K/X","Aaa/aa","rs760140619",null,1,"ADD3","HGNC","HGNC:245","protein_coding","YES","CCDS7561.1","ENSP00000348381","Q9UEY8.169","Q5VU08.125","UPI0000125505","Q9UEY8-1","NM_001320591.2;NM_001320592.2;NM_001320593.2;NM_001320594.2;NM_016824.5","NM_016824.5","A2",{"$nulls":3},"15/15",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR10672:SF5;PANTHER:PTHR10672",{"$nulls":8},"3.742e-05",0,0.0001531,0,"6.329e-05",0,"1.958e-05",0,"4.153e-05",0.0001531,"gnomAD_AMR","6.805869816162158e-06",0,0,0,0,2.01856993953697E-4,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,7,null,1,"AAGAACAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1180729","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["C10orf90",118611,"BI","GRCh38","chr10",126461417,126461417,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1703G>C","p.Arg568Thr","p.R568T","ENST00000284694","2024-05-09",34,26,8,68,null,null,"C10orf90,missense_variant,p.R568T,ENST00000284694,NM_001350922.1&NM_001350921.1&NM_001004298.3,c.1703G>C,MODERATE,YES,tolerated(0.14),benign(0.023),-1;C10orf90,missense_variant,p.R521T,ENST00000356858,,c.1562G>C,MODERATE,,tolerated(0.16),benign(0.061),-1;C10orf90,missense_variant,p.R568T,ENST00000432642,,c.1703G>C,MODERATE,,deleterious(0.04),benign(0.023),-1;C10orf90,missense_variant,p.R111T,ENST00000424927,,c.332G>C,MODERATE,,tolerated(0.31),benign(0.043),-1;C10orf90,5_prime_UTR_variant,,ENST00000480379,,c.-86G>C,MODIFIER,,,,-1;AL589787.1,downstream_gene_variant,,ENST00000656840,,,MODIFIER,YES,,,1","G","ENSG00000154493","ENST00000284694","Transcript","missense_variant","missense_variant","1824/3076","1703/2100","568/699","R/T","aGa/aCa","COSV52950577",null,-1,"C10orf90","HGNC","HGNC:26563","protein_coding","YES","CCDS31310.1","ENSP00000284694","Q96M02.129",null,"UPI00001D808F","Q96M02-1","NM_001350922.1;NM_001350921.1;NM_001004298.3",null,"P4",null,"tolerated(0.14)","benign(0.023)","2024-05-09",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR21553:SF24;PANTHER:PTHR21553",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAGATCTTGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4012550;COSM4012551","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDHR5",53841,"BI","GRCh38","chr11",619478,619478,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1289C>T","p.Ala430Val","p.A430V","ENST00000358353","2024-11-15",92,84,8,146,null,null,"CDHR5,missense_variant,p.A430V,ENST00000397542,NM_021924.5,c.1289C>T,MODERATE,YES,tolerated(0.25),benign(0.084),-1;CDHR5,missense_variant,p.A430V,ENST00000358353,NM_001171968.2,c.1289C>T,MODERATE,,tolerated(0.35),benign(0.085),-1;CDHR5,missense_variant,p.A430V,ENST00000674088,,c.1289C>T,MODERATE,,tolerated(0.25),benign(0.084),-1;CDHR5,missense_variant,p.A430V,ENST00000349570,NM_031264.4,c.1289C>T,MODERATE,,tolerated(0.52),benign(0.069),-1;IRF7,upstream_gene_variant,,ENST00000330243,NM_004031.4,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000348655,NM_004029.4,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000397566,,,MODIFIER,YES,,,-1;IRF7,upstream_gene_variant,,ENST00000397570,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000525445,NM_001572.5,,MODIFIER,,,,-1;CDHR5,downstream_gene_variant,,ENST00000526077,,,MODIFIER,,,,-1;CDHR5,downstream_gene_variant,,ENST00000531088,,,MODIFIER,,,,-1;CDHR5,downstream_gene_variant,,ENST00000534311,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000647801,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000649187,,,MODIFIER,,,,-1;CDHR5,downstream_gene_variant,,ENST00000529337,,,MODIFIER,,,,-1;CDHR5,downstream_gene_variant,,ENST00000532949,,,MODIFIER,,,,-1;CDHR5,3_prime_UTR_variant,,ENST00000531177,,c.*1121C>T,MODIFIER,,,,-1;CDHR5,non_coding_transcript_exon_variant,,ENST00000531899,,n.1249C>T,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000469048,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000527160,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000528413,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000532096,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000532326,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000532788,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000533182,,,MODIFIER,,,,-1;IRF7,upstream_gene_variant,,ENST00000533190,,,MODIFIER,,,,-1","A","ENSG00000099834","ENST00000358353","Transcript","missense_variant","missense_variant","1311/3316","1289/2520","430/839","A/V","gCa/gTa","COSV57641747",null,-1,"CDHR5","HGNC","HGNC:7521","protein_coding",null,null,"ENSP00000351118",null,null,"UPI000047C692",null,"NM_001171968.2",null,"A2",null,"tolerated(0.35)","benign(0.085)","2024-11-15",null,"Gene3D:2.60.40.60;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF243",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"CCTCTGCGTAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4034703","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TRPM5",29850,"BI","GRCh38","chr11",2411678,2411678,"+","Missense_Mutation","SNP","A","A","T","rs1454527252",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2564T>A","p.Ile855Lys","p.I855K","ENST00000155858","17/24",77,62,15,173,null,null,"TRPM5,missense_variant,p.I855K,ENST00000155858,NM_014555.3,c.2564T>A,MODERATE,,deleterious(0),probably_damaging(0.956),-1;TRPM5,missense_variant,p.I849K,ENST00000533881,,c.2546T>A,MODERATE,,deleterious(0),probably_damaging(0.964),-1;TRPM5,missense_variant,p.I855K,ENST00000533060,,c.2564T>A,MODERATE,YES,deleterious(0),probably_damaging(0.964),-1;TRPM5,missense_variant,p.I855K,ENST00000528453,,c.2564T>A,MODERATE,,deleterious(0),probably_damaging(0.956),-1;AC124057.1,downstream_gene_variant,,ENST00000433035,,,MODIFIER,YES,,,1","T","ENSG00000070985","ENST00000155858","Transcript","missense_variant","missense_variant","2573/3929","2564/3498","855/1165","I/K","aTa/aAa","rs1454527252;COSV50145632",null,-1,"TRPM5","HGNC","HGNC:14323","protein_coding",null,"CCDS31340.1","ENSP00000155858","Q9NZQ8.131",null,"UPI000003B069","Q9NZQ8-1","NM_014555.3",null,"P4",null,"deleterious(0)","probably_damaging(0.956)","17/24",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR13800;PANTHER:PTHR13800:SF5;Pfam:PF00520",{"$nulls":8},"3.995e-06",0,0,0,0,0,"8.864e-06",0,0,"8.864e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TGTGTATGGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4032137","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR51E1",143503,"BI","GRCh38","chr11",4652900,4652900,"+","Missense_Mutation","SNP","G","G","A","rs760647045",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.374G>A","p.Arg125His","p.R125H","ENST00000396952","2024-02-02",76,67,9,86,null,null,"OR51E1,missense_variant,p.R125H,ENST00000396952,NM_152430.4,c.374G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),1;OR51E1,intron_variant,,ENST00000530215,,c.130+244G>A,MODIFIER,,,,1","A","ENSG00000180785","ENST00000396952","Transcript","missense_variant","missense_variant","462/3050","374/957","125/318","R/H","cGc/cAc","rs760647045;COSV67809478;COSV67810339",null,1,"OR51E1","HGNC","HGNC:15194","protein_coding","YES","CCDS31358.2","ENSP00000380155","Q8TCB6.139","A0A126GVF8.28","UPI000003ACE2",null,"NM_152430.4","NM_152430.4","P1",null,"deleterious(0.01)","probably_damaging(0.999)","2024-02-02",null,"PROSITE_profiles:PS50262;CDD:cd15222;PANTHER:PTHR26450:SF167;PANTHER:PTHR26450;PROSITE_patterns:PS00237;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237",{"$nulls":8},"8.029e-06",0,0,0,"5.441e-05",0,"8.887e-06",0,0,"5.441e-05","gnomAD_EAS","1.3528900126402732e-05",0,0,0,0,2.01856993953697E-4,"9.435739775653929e-05",0,0,0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1;1",null,"TGACCGCTATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1980859","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR52L1",338751,"BI","GRCh38","chr11",5986795,5986795,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.136G>T","p.Ala46Ser","p.A46S","ENST00000332249","2024-01-01",42,30,12,73,null,null,"OR52L1,missense_variant,p.A46S,ENST00000332249,NM_001005173.3,c.136G>T,MODERATE,YES,tolerated(1),benign(0.187),-1","A","ENSG00000183313","ENST00000332249","Transcript","missense_variant","missense_variant","191/1094","136/990","46/329","A/S","Gca/Tca","COSV59986026;COSV59988219",null,-1,"OR52L1","HGNC","HGNC:14785","protein_coding","YES","CCDS44529.1","ENSP00000330338","Q8NGH7.132",null,"UPI000004B20D",null,"NM_001005173.3","NM_001005173.3","P1",null,"tolerated(1)","benign(0.187)","2024-01-01",null,"Gene3D:1.20.1070.10;Prints:PR00237;PANTHER:PTHR26450;PANTHER:PTHR26450:SF353;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15951;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"1;1",null,"CAGTGCAATCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4034404;COSM4034405","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCUBE2",57758,"BI","GRCh38","chr11",9060491,9060491,"+","Missense_Mutation","SNP","C","C","T","rs367701920",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.884G>A","p.Arg295His","p.R295H","ENST00000649792","2024-08-23",139,125,14,232,null,null,"SCUBE2,missense_variant,p.R295H,ENST00000649792,NM_001367977.2,c.884G>A,MODERATE,YES,tolerated(0.21),probably_damaging(0.91),-1;SCUBE2,missense_variant,p.R295H,ENST00000309263,NM_001330199.2,c.884G>A,MODERATE,,tolerated(0.23),probably_damaging(0.91),-1;SCUBE2,missense_variant,p.R295H,ENST00000520467,NM_020974.3,c.884G>A,MODERATE,,tolerated(0.19),probably_damaging(0.95),-1;SCUBE2,missense_variant,p.R295H,ENST00000450649,NM_001170690.2,c.884G>A,MODERATE,,tolerated(0.32),probably_damaging(0.944),-1;SCUBE2,missense_variant,p.R19H,ENST00000519788,,c.56G>A,MODERATE,,tolerated(0.26),possibly_damaging(0.858),-1;SCUBE2,missense_variant,p.R60H,ENST00000531429,,c.179G>A,MODERATE,,tolerated(0.06),benign(0.024),-1;AC079296.1,non_coding_transcript_exon_variant,,ENST00000661716,,n.619C>T,MODIFIER,,,,1;AC079296.1,intron_variant,,ENST00000521394,,n.1115+752C>T,MODIFIER,YES,,,1;AC079296.1,intron_variant,,ENST00000670061,,n.583+752C>T,MODIFIER,,,,1;AC079296.1,downstream_gene_variant,,ENST00000531592,,,MODIFIER,,,,1","T","ENSG00000175356","ENST00000649792","Transcript","missense_variant","missense_variant","955/4727","884/3087","295/1028","R/H","cGc/cAc","rs367701920",null,-1,"SCUBE2","HGNC","HGNC:30425","protein_coding","YES",null,"ENSP00000497523",null,"A0A3B3ISZ7.9","UPI0000E56F0F",null,"NM_001367977.2","NM_001367977.2","P4",null,"tolerated(0.21)","probably_damaging(0.91)","2024-08-23",null,"Gene3D:2.10.25.10;Pfam:PF14670;PANTHER:PTHR24046;PANTHER:PTHR24046:SF3;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184;Superfamily:SSF57196",{"$nulls":6},0,1.164E-4,"3.982e-05",0,0,0,0,0,"7.042e-05",0,"6.536e-05",1.164E-4,"EA","1.3519000276573934e-05",0,0,0,0,0,0,0,"3.085850039497018e-05",0,0,"3.085850039497018e-05","nfe",{"$nulls":9},"MODERATE",null,"SNV",{"$nulls":4},"AGGTGCGGTCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4037404;COSM4037405","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SOX6",55553,"BI","GRCh38","chr11",15986300,15986300,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2087G>A","p.Arg696His","p.R696H","ENST00000528429","15/16",196,181,14,334,null,null,"SOX6,missense_variant,p.R672H,ENST00000655819,,c.2015G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;SOX6,missense_variant,p.R676H,ENST00000396356,NM_033326.3,c.2027G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SOX6,missense_variant,p.R676H,ENST00000316399,,c.2027G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SOX6,missense_variant,p.R669H,ENST00000528252,NM_001367872.1&NM_001145811.2,c.2006G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;SOX6,missense_variant,p.R669H,ENST00000527619,NM_017508.3,c.2006G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;SOX6,missense_variant,p.R696H,ENST00000528429,NM_001145819.2&NM_001367873.1,c.2087G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;SOX6,non_coding_transcript_exon_variant,,ENST00000527840,,n.539G>A,MODIFIER,,,,-1","T","ENSG00000110693","ENST00000528429","Transcript","missense_variant","missense_variant","2155/2656","2087/2487","696/828","R/H","cGc/cAc","COSV57036569",null,-1,"SOX6","HGNC","HGNC:16421","protein_coding","YES",null,"ENSP00000433233","P35712.183",null,"UPI000013FD91","P35712-1","NM_001145819.2;NM_001367873.1",null,"A2",null,"deleterious(0)","probably_damaging(0.999)","15/16",null,"Gene3D:1.10.30.10;PANTHER:PTHR45789;PANTHER:PTHR45789:SF1;Superfamily:SSF47095;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGGTGCGTTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM2091066;COSM2091067","N","Unknown",{"$nulls":3},"muse;mutect2"]
["KCNA4",3739,"BI","GRCh38","chr11",30012016,30012016,"+","Frame_Shift_Del","DEL","A","A","-","rs754892524",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.663del","p.Phe221LeufsTer21","p.F221Lfs*21","ENST00000328224","2024-02-02",86,75,10,141,null,null,"KCNA4,frameshift_variant,p.F221Lfs*21,ENST00000328224,NM_002233.4,c.663del,HIGH,YES,,,-1;KCNA4,downstream_gene_variant,,ENST00000526518,,,MODIFIER,,,,-1","-","ENSG00000182255","ENST00000328224","Transcript","frameshift_variant","frameshift_variant","1904/4190","663/1962","221/653","F/X","ttT/tt","rs754892524",null,-1,"KCNA4","HGNC","HGNC:6222","protein_coding","YES","CCDS41629.1","ENSP00000328511","P22459.185",null,"UPI00001649FF",null,"NM_002233.4","NM_002233.4","P1",{"$nulls":3},"2024-02-02",null,"Prints:PR00169;Prints:PR01491;Prints:PR01496;Superfamily:SSF54695;SMART:SM00225;Pfam:PF02214;Gene3D:3.30.710.10;PANTHER:PTHR11537;PANTHER:PTHR11537:SF45;CDD:cd18407",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":22},"HIGH",1,"deletion",1,null,null,1,"CCTGTCAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM293643","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KCNA4",3739,"BI","GRCh38","chr11",30012149,30012149,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.530G>T","p.Arg177Leu","p.R177L","ENST00000328224","2024-02-02",60,45,15,106,null,null,"KCNA4,missense_variant,p.R177L,ENST00000328224,NM_002233.4,c.530G>T,MODERATE,YES,deleterious(0.01),benign(0.245),-1;KCNA4,downstream_gene_variant,,ENST00000526518,,,MODIFIER,,,,-1","A","ENSG00000182255","ENST00000328224","Transcript","missense_variant","missense_variant","1771/4190","530/1962","177/653","R/L","cGt/cTt","COSV60251002",null,-1,"KCNA4","HGNC","HGNC:6222","protein_coding","YES","CCDS41629.1","ENSP00000328511","P22459.185",null,"UPI00001649FF",null,"NM_002233.4","NM_002233.4","P1",null,"deleterious(0.01)","benign(0.245)","2024-02-02",null,"Superfamily:SSF54695;SMART:SM00225;Gene3D:3.30.710.10;PANTHER:PTHR11537;PANTHER:PTHR11537:SF45;CDD:cd18407",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCACACGTTCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4032296","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CTNND1",1500,"BI","GRCh38","chr11",57810192,57810192,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2523del","p.Glu842LysfsTer10","p.E842Kfs*10","ENST00000399050","16/21",54,47,7,123,null,null,"CTNND1,frameshift_variant,p.E842Kfs*10,ENST00000399050,NM_001085458.2,c.2523del,HIGH,YES,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000524630,,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000361332,NM_001085459.2,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000361391,NM_001331.3,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E842Kfs*10,ENST00000361796,NM_001206885.2,c.2523del,HIGH,,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000358694,NM_001085461.2&NM_001085460.2,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000529526,NM_001206891.2,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000532649,,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000534579,NM_001206889.2,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000428599,NM_001085462.2,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E788Kfs*10,ENST00000532844,NM_001206883.2,c.2361del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000526357,NM_001206886.2,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000529873,NM_001206887.2,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E788Kfs*10,ENST00000530748,NM_001206884.2,c.2361del,HIGH,,,,1;CTNND1,frameshift_variant,p.E782Kfs*10,ENST00000528621,NM_001206888.2,c.2343del,HIGH,,,,1;CTNND1,frameshift_variant,p.E741Kfs*10,ENST00000415361,NM_001085463.2,c.2220del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000530094,NM_001085464.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000426142,NM_001085467.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000532787,NM_001085465.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000532463,NM_001206890.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E741Kfs*10,ENST00000528232,NM_001085466.2,c.2220del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000529986,NM_001085468.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E735Kfs*10,ENST00000532245,NM_001085469.2,c.2202del,HIGH,,,,1;CTNND1,frameshift_variant,p.E818Kfs*10,ENST00000674106,,c.2451del,HIGH,,,,1;CTNND1,frameshift_variant,p.E836Kfs*10,ENST00000673683,,c.2505del,HIGH,,,,1;CTNND1,frameshift_variant,p.E818Kfs*10,ENST00000673826,,c.2451del,HIGH,,,,1;CTNND1,frameshift_variant,p.E519Kfs*10,ENST00000527467,,c.1554del,HIGH,,,,1;CTNND1,frameshift_variant,p.E513Kfs*10,ENST00000531014,,c.1536del,HIGH,,,,1;CTNND1,frameshift_variant,p.E513Kfs*10,ENST00000533667,,c.1536del,HIGH,,,,1;CTNND1,frameshift_variant,p.E519Kfs*10,ENST00000525902,,c.1554del,HIGH,,,,1;CTNND1,frameshift_variant,p.E513Kfs*10,ENST00000526772,,c.1536del,HIGH,,,,1;CTNND1,frameshift_variant,p.E812Kfs*10,ENST00000674015,,c.2433del,HIGH,,,,1;CTNND1,frameshift_variant,p.E842Kfs*10,ENST00000529919,,c.2523del,HIGH,,,,1;CTNND1,frameshift_variant,p.E842Kfs*10,ENST00000526938,,c.2523del,HIGH,,,,1;CTNND1,frameshift_variant,p.E19Kfs*10,ENST00000531007,,c.52del,HIGH,,,,1;CTNND1,non_coding_transcript_exon_variant,,ENST00000673661,,n.2272del,MODIFIER,,,,1;AP001931.2,3_prime_UTR_variant,,ENST00000674060,,c.*2674del,MODIFIER,,,,1;AP001931.2,3_prime_UTR_variant,,ENST00000673810,,c.*2682del,MODIFIER,,,,1;AP001931.2,3_prime_UTR_variant,,ENST00000674116,,c.*2674del,MODIFIER,YES,,,1;AP001931.2,3_prime_UTR_variant,,ENST00000673781,,c.*2584del,MODIFIER,,,,1;CTNND1,upstream_gene_variant,,ENST00000525821,,,MODIFIER,,,,1;CTNND1,downstream_gene_variant,,ENST00000530720,,,MODIFIER,,,,1","-","ENSG00000198561","ENST00000399050","Transcript","frameshift_variant","frameshift_variant","3050/6670","2519/2907","840/968","E/X","gAa/ga",null,null,1,"CTNND1","HGNC","HGNC:2515","protein_coding","YES","CCDS44604.1","ENSP00000382004","O60716.201",null,"UPI000012860B","O60716-1","NM_001085458.2","NM_001085458.2","A1",{"$nulls":3},"16/21",null,"PDB-ENSP_mappings:3l6x.A;PDB-ENSP_mappings:3l6y.A;PDB-ENSP_mappings:3l6y.C;PDB-ENSP_mappings:3l6y.E;PANTHER:PTHR10372:SF6;PANTHER:PTHR10372;Gene3D:1.25.10.10",{"$nulls":41},"HIGH",1,"deletion",1,4,null,1,"CACTGGAAAAAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1354858;COSM1354859","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AP002748.5",0,"BI","GRCh38","chr11",66523538,66523538,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1024G>T","p.Gly342Cys","p.G342C","ENST00000419755","2024-10-17",59,54,5,106,null,null,"AP002748.5,missense_variant,p.G342C,ENST00000419755,,c.1024G>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),1;BBS1,missense_variant,p.G305C,ENST00000318312,NM_024649.5,c.913G>T,MODERATE,YES,deleterious(0),probably_damaging(0.983),1;BBS1,missense_variant,p.G208C,ENST00000455748,,c.622G>T,MODERATE,,deleterious(0),possibly_damaging(0.797),1;BBS1,3_prime_UTR_variant,,ENST00000630659,,c.*620G>T,MODIFIER,,,,1;BBS1,intron_variant,,ENST00000393994,,c.724-2585G>T,MODIFIER,,,,1;ZDHHC24,intron_variant,,ENST00000526986,NM_001348571.2,c.*22-2072C>A,MODIFIER,,,,-1;BBS1,downstream_gene_variant,,ENST00000525809,,,MODIFIER,,,,1;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,,n.920G>T,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000529953,,,MODIFIER,,,,1;BBS1,3_prime_UTR_variant,,ENST00000526760,,c.*620G>T,MODIFIER,,,,1;BBS1,3_prime_UTR_variant,,ENST00000532908,,c.*573G>T,MODIFIER,,,,1;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,,n.884G>T,MODIFIER,,,,1;BBS1,non_coding_transcript_exon_variant,,ENST00000527959,,n.57G>T,MODIFIER,,,,1;BBS1,non_coding_transcript_exon_variant,,ENST00000529895,,n.362G>T,MODIFIER,,,,1;ZDHHC24,intron_variant,,ENST00000534073,,c.*143+617C>A,MODIFIER,,,,-1;BBS1,downstream_gene_variant,,ENST00000524458,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000524884,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000524907,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000526035,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000527251,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000528543,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000532283,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000533430,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000533557,,,MODIFIER,,,,1;BBS1,downstream_gene_variant,,ENST00000533644,,,MODIFIER,,,,1;AP002748.6,upstream_gene_variant,,ENST00000658548,,,MODIFIER,YES,,,-1","T","ENSG00000256349","ENST00000419755","Transcript","missense_variant","missense_variant","1102/3547","1024/1893","342/630","G/C","Ggc/Tgc","CM031134;COSV100567719",null,1,"AP002748.5","Clone_based_ensembl_gene",null,"protein_coding","YES",null,"ENSP00000398526",null,null,"UPI000006E494",{"$nulls":3},"P1",null,"deleterious(0)","probably_damaging(0.99)","2024-10-17",null,"PANTHER:PTHR20870;Superfamily:SSF50998",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"1;1",null,"TGGTGGGCAGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["INPPL1",3636,"BI","GRCh38","chr11",72237704,72237704,"+","Frame_Shift_Del","DEL","C","C","-","rs760925109",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3466del","p.Arg1156GlyfsTer46","p.R1156Gfs*46","ENST00000298229","26/28",35,30,4,43,null,null,"INPPL1,frameshift_variant,p.R1156Gfs*46,ENST00000298229,NM_001567.4,c.3466del,HIGH,YES,,,1;INPPL1,frameshift_variant,p.R914Gfs*46,ENST00000538751,,c.2740del,HIGH,,,,1;INPPL1,frameshift_variant,p.P1089Rfs*104,ENST00000541756,,c.3266del,HIGH,,,,1;INPPL1,frameshift_variant,p.R169Gfs*59,ENST00000541752,,c.505del,HIGH,,,,1;INPPL1,frameshift_variant,p.R18Gfs*46,ENST00000320683,,c.51del,HIGH,,,,1;PHOX2A,downstream_gene_variant,,ENST00000298231,NM_005169.4,,MODIFIER,YES,,,-1;PHOX2A,downstream_gene_variant,,ENST00000546310,,,MODIFIER,,,,-1;PHOX2A,downstream_gene_variant,,ENST00000544057,,,MODIFIER,,,,-1;INPPL1,intron_variant,,ENST00000535985,,c.*144-1311del,MODIFIER,,,,1;INPPL1,downstream_gene_variant,,ENST00000541303,,,MODIFIER,,,,1;INPPL1,downstream_gene_variant,,ENST00000545355,,,MODIFIER,,,,1","-","ENSG00000165458","ENST00000298229","Transcript","frameshift_variant","frameshift_variant","3678/4789","3460/3777","1154/1258","P/X","Ccc/cc","rs760925109",null,1,"INPPL1","HGNC","HGNC:6080","protein_coding","YES","CCDS8213.1","ENSP00000298229","O15357.160",null,"UPI000013E4AF","O15357-1","NM_001567.4","NM_001567.4","P1",{"$nulls":3},"26/28",null,"PANTHER:PTHR46051;PANTHER:PTHR46051:SF2",{"$nulls":8},"8.488e-06",0,"2.965e-05",0,0,0,"9.57e-06",0,0,"2.965e-05","gnomAD_AMR",{"$nulls":22},"HIGH",1,"deletion",1,6,null,1,"CTGCAGCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1356796","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["MYO7A",4647,"BI","GRCh38","chr11",77189435,77189435,"+","Missense_Mutation","SNP","G","G","A","rs782151104",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3595G>A","p.Val1199Met","p.V1199M","ENST00000409709","28/49",65,57,8,146,null,null,"MYO7A,missense_variant,p.V1199M,ENST00000409709,NM_000260.4,c.3595G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.997),1;MYO7A,missense_variant,p.V1199M,ENST00000458637,NM_001127180.2,c.3595G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.866),1;MYO7A,missense_variant,p.V1188M,ENST00000409619,NM_001369365.1,c.3562G>A,MODERATE,,deleterious(0.01),probably_damaging(0.939),1;MYO7A,missense_variant,p.V380M,ENST00000458169,,c.1138G>A,MODERATE,,deleterious(0.02),benign(0.26),1;MYO7A,downstream_gene_variant,,ENST00000409893,,,MODIFIER,,,,1;MYO7A,downstream_gene_variant,,ENST00000620575,,,MODIFIER,,,,1;MYO7A,missense_variant,p.V480M,ENST00000670577,,c.1438G>A,MODERATE,,deleterious(0),benign(0.286),1;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,,n.1138G>A,MODIFIER,,,,1;MYO7A,non_coding_transcript_exon_variant,,ENST00000467137,,n.122G>A,MODIFIER,,,,1","A","ENSG00000137474","ENST00000409709","Transcript","missense_variant","missense_variant","3885/7483","3595/6648","1199/2215","V/M","Gtg/Atg","rs782151104;COSV68683761",null,1,"MYO7A","HGNC","HGNC:7606","protein_coding","YES","CCDS53683.1","ENSP00000386331","Q13402.224",null,"UPI00001FAFE6","Q13402-1","NM_000260.4","NM_000260.4",null,null,"deleterious(0.01)","probably_damaging(0.997)","28/49",null,"PROSITE_profiles:PS51016;PANTHER:PTHR22692:SF19;PANTHER:PTHR22692;Gene3D:1.25.40.530;Pfam:PF00784;SMART:SM00139",{"$nulls":8},"1.204e-05",0,0,0,0,0,"1.771e-05",0,"3.268e-05","3.268e-05","gnomAD_SAS","2.028179915214423e-05",0,0,0,0,0,0,0,"4.629059912986122e-05",0,0,"4.629059912986122e-05","nfe","uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"TCTGCGTGGGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4036829","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PDGFD",80310,"BI","GRCh38","chr11",103996214,103996214,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.361G>T","p.Glu121Ter","p.E121*","ENST00000393158","2024-03-07",78,64,14,82,null,null,"PDGFD,stop_gained,p.E115*,ENST00000302251,NM_033135.4,c.343G>T,HIGH,,,,-1;PDGFD,stop_gained,p.E121*,ENST00000393158,NM_025208.5,c.361G>T,HIGH,YES,,,-1;PDGFD,stop_gained,p.E144*,ENST00000529268,,c.430G>T,HIGH,,,,-1","A","ENSG00000170962","ENST00000393158","Transcript","stop_gained","stop_gained","581/3838","361/1113","121/370","E/*","Gaa/Taa","COSV56370586",null,-1,"PDGFD","HGNC","HGNC:30620","protein_coding","YES","CCDS41703.1","ENSP00000376865","Q9GZP0.151",null,"UPI0000034811","Q9GZP0-1","NM_025208.5","NM_025208.5","P1",{"$nulls":3},"2024-03-07",null,"PROSITE_profiles:PS01180;CDD:cd00041;PANTHER:PTHR11633:SF4;PANTHER:PTHR11633;Gene3D:2.60.120.290;Pfam:PF00431;SMART:SM00042;Superfamily:SSF49854",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"GGTTTCGGATA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4017356;COSM4017357","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DDI1",414301,"BI","GRCh38","chr11",104037486,104037486,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.664A>T","p.Asn222Tyr","p.N222Y","ENST00000302259","2024-01-01",127,118,9,379,null,null,"DDI1,missense_variant,p.N222Y,ENST00000302259,NM_001001711.3,c.664A>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;PDGFD,intron_variant,,ENST00000302251,NM_033135.4,c.125-37249T>A,MODIFIER,,,,-1;PDGFD,intron_variant,,ENST00000393158,NM_025208.5,c.125-37231T>A,MODIFIER,YES,,,-1;PDGFD,upstream_gene_variant,,ENST00000529268,,,MODIFIER,,,,-1","T","ENSG00000170967","ENST00000302259","Transcript","missense_variant","missense_variant","847/2557","664/1191","222/396","N/Y","Aac/Tac","COSV56370600",null,1,"DDI1","HGNC","HGNC:18961","protein_coding","YES","CCDS31660.1","ENSP00000302805","Q8WTU0.153",null,"UPI0000047AEA",null,"NM_001001711.3","NM_001001711.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-01-01",null,"Low_complexity_(Seg):seg;PANTHER:PTHR12917:SF15;PANTHER:PTHR12917;Gene3D:2.40.70.10;Pfam:PF09668",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"AGCAAAACATT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4017378;COSM4017379","N","Unknown",{"$nulls":3},"muse;mutect2"]
["BACE1",23621,"BI","GRCh38","chr11",117290518,117290518,"+","Nonsense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1234C>T","p.Arg412Ter","p.R412*","ENST00000313005","2024-08-09",49,44,5,96,null,null,"BACE1,stop_gained,p.R412*,ENST00000313005,NM_012104.4,c.1234C>T,HIGH,YES,,,-1;BACE1,stop_gained,p.R312*,ENST00000392937,NM_001207048.2,c.934C>T,HIGH,,,,-1;BACE1,stop_gained,p.R378*,ENST00000528053,,c.1132C>T,HIGH,,,,-1;BACE1,stop_gained,p.R387*,ENST00000513780,NM_138972.3,c.1159C>T,HIGH,,,,-1;BACE1,stop_gained,p.R368*,ENST00000445823,NM_138971.3,c.1102C>T,HIGH,,,,-1;BACE1,stop_gained,p.R343*,ENST00000428381,NM_138973.3,c.1027C>T,HIGH,,,,-1;BACE1,stop_gained,p.R287*,ENST00000510630,NM_001207049.2,c.859C>T,HIGH,,,,-1;RNF214,downstream_gene_variant,,ENST00000300650,NM_207343.4,,MODIFIER,YES,,,1;BACE1,downstream_gene_variant,,ENST00000504995,,,MODIFIER,,,,-1;BACE1,downstream_gene_variant,,ENST00000510915,,,MODIFIER,,,,-1;RNF214,downstream_gene_variant,,ENST00000530849,,,MODIFIER,,,,1;RNF214,downstream_gene_variant,,ENST00000531452,NM_001077239.1,,MODIFIER,,,,1;BACE1,downstream_gene_variant,,ENST00000514464,,,MODIFIER,,,,-1;BACE1-AS,non_coding_transcript_exon_variant,,ENST00000649580,,n.2066G>A,MODIFIER,YES,,,1;BACE1,non_coding_transcript_exon_variant,,ENST00000509916,,n.578C>T,MODIFIER,,,,-1;BACE1,downstream_gene_variant,,ENST00000530824,,,MODIFIER,,,,-1;BACE1-AS,upstream_gene_variant,,ENST00000614401,,,MODIFIER,,,,1;BACE1-AS,upstream_gene_variant,,ENST00000618857,,,MODIFIER,,,,1","A","ENSG00000186318","ENST00000313005","Transcript","stop_gained","stop_gained","1695/6326","1234/1506","412/501","R/*","Cga/Tga","COSV56117880",null,-1,"BACE1","HGNC","HGNC:933","protein_coding","YES","CCDS8383.1","ENSP00000318585","P56817.219","A0A024R3D7.50","UPI0000048186","P56817-1","NM_012104.4",null,"P1",{"$nulls":3},"2024-08-09",null,{"$cut":{"chars":17355,"head":"PDB-ENSP_mappings:1fkn.A;PDB-ENSP_mappings:1fkn.B;PDB-ENSP_mappings:1m4h.A;PDB-ENSP_mappings:1m4h.B;PDB-ENSP_mappings:1sgz.A;PDB-ENSP_mappings:1sgz.B;PDB-ENSP_mappings:1sgz.C;PDB-ENSP_mappings:1sgz.D;PDB-ENSP_mappings:1tqf.A;PDB-ENSP_mappings:1w50.A;PDB-ENSP_mappings:1w51.A;PDB-ENSP_mappings:1xn2.A;PDB-ENSP_mappings:1xn2.B;PDB-ENSP_mappings:1xn2.C;PDB-ENSP_mappings:1xn2.D;PDB-ENSP_mappings:1xn3.A;PDB-ENSP_mappings:1xn3.B;PDB-ENSP_mappings:1xn3.C;PDB-ENSP_mappings:1xn3.D;PDB-ENSP_mappings:1xs7.D;PDB-ENSP_mappings:1ym2.A;PDB-ENSP_mappings:1ym2.B;PDB-ENSP_mappings:1ym2.C;PDB-ENSP_mappings:1ym4.A;PDB-ENSP_mappings:1ym4.B;PDB-ENSP_mappings:1ym4.C;PDB-ENSP_mappings:2b8l.A;PDB-ENSP_mappings:2b8v.A;PDB-ENSP_mappings:2f3e.A;PDB-ENSP_mappings:2f3e.B;PDB-ENSP_mappings:2f3e.C;PDB-ENSP_mappings:2f3f.A;PDB-ENSP_mappings:2f3f.B;PDB-ENSP_mappings:2f3f.C;PDB-ENSP_mappings:2fdp.A;PDB-ENSP_mappings:2fdp.B;PDB-ENSP_mappings:2fdp.C;PDB-ENSP_mappings:2g94.A;PDB-ENSP_mappings:2g94.B;PDB-ENSP_mappings:2g94.C;PDB-ENSP_mappings:2g94.D;PDB-ENSP_mappings:2hiz.A;PDB-ENSP_mappings:2hiz.B;PDB-ENSP_mappings:2hiz.C;PDB-ENSP_mappings:2hm1.A;PDB-ENSP_mappings:2iqg.A;PDB-ENSP_mappings:2irz.A;PDB-ENSP_mappings:2is0.A;PDB-ENSP_mappings:2ntr.A;PDB-ENSP_mappings:2oah.A;PDB-ENSP_mappings:2of0.A;PDB-ENSP_mappings:2ohk.A;PDB-ENSP_mappings:2ohl.A;PDB-ENSP_mappings:2ohm.A;PDB-ENSP_mappings:2ohn.A;PDB-ENSP_mappings:2ohp.A;PDB-ENSP_mappings:2ohq.A;PDB-ENSP_mappings:2ohr.A;PDB-ENSP_mappings:2ohs.A;PDB-ENSP_mappings:2oht.A;PDB-ENSP_mappings:2ohu.A;PDB-ENSP_mappings:2p4j.A;PDB-ENSP_mappings:2p4j.B;PDB-ENSP_mappings:2p4j.C;PDB-ENSP_mappings:2p4j.D;PDB-ENSP_mappings:2p83.A;PDB-ENSP_mappings:2p83.B;PDB-ENSP_mappings:2p83.C;PDB-ENSP_mappings:2p8h.A;PDB-ENSP_mappings:2ph6.A;PDB-ENSP_mappings:2ph8.A;PDB-ENSP_mappings:2q11.A;PDB-ENSP_mappings:2q11.B;PDB-ENSP_mappings:2q11.C;PDB-ENSP_mappings:2q15.A;PDB-ENSP_mappings:2qk5.A;PDB-ENSP_mappings:2qk5.B;PDB-ENSP_mappings:2qmd.A;PDB-ENSP_mappings:2qmd.B;PDB-ENSP_mappings:2qmf.A;PDB-ENSP_mappings:2qmf.B;PDB-ENSP_mappings:2qmg.A;PDB-ENSP_mappings:2qmg.B;PDB-ENSP_mappings:2qp8.A;PDB-ENSP_mappings:2qp8.B;PDB-ENSP_mappings:2qu2.A;PDB-ENSP_mappings:2qu3.A;PDB-ENSP_mappings:2qzk.A;PDB-ENSP_mappings:2qzl.A;PDB-ENSP_mappings:2va5.A;PDB-ENSP_mappings:2va6.A;PDB-ENSP_mappings:2va7.A;PDB-ENSP_mappings:2vie.A;PDB-ENSP_mappings:2vij.A;PDB-ENSP_mappings:2viy.A;PDB-ENSP_mappings:2viz.A;PDB-ENSP_mappings:2vj6.A;PDB-ENSP_mappings:2vj7.A;PDB-ENSP_mappings:2vj9.A;PDB-ENSP_mappings:2vkm.A;PDB-ENSP_mappings:2vkm.B;PDB-ENSP_mappings:2vkm.C;PDB-ENSP_mappings:2vkm.D;PDB-ENSP_mappings:2vnm.A;PDB-ENSP_mappings:2vnn.A;PDB-ENSP_mappings:2wez.A;PDB-ENSP_mappings:2wf0.A;PDB-ENSP_mappings:2wf1.A;PDB-ENSP_mappings:2wf2.A;PDB-ENSP_mappings:2wf3.A;PDB-ENSP_mappings:2wf4.A;PDB-ENSP_mappings:2wjo.A;PDB-ENSP_mappings:2xfi.A;PDB-ENSP_mappings:2xfj.A;PDB-ENSP_mappings:2xfk.A;PDB-ENSP_mappings:2zdz.A;PDB-ENSP_mappings:2ze1.A;PDB-ENSP_mappings:2zhr.A;PDB-ENSP_mappings:2zhr.B;PDB-ENSP_mappings:2zhs.A;PDB-ENSP_mappings:2zht.A;PDB-ENSP_mappings:2zhu.A;PDB-ENSP_mappings:2zhv.A;PDB-ENSP_mappings:2zjh.A;PDB-ENSP_mappings:2zji.A;PDB-ENSP_mappings:2zjj.A;PDB-ENSP_mappings:2zjk.A;PDB-ENSP_mappings:2zjk.B;PDB-ENSP_mappings:2zjk.C;PDB-ENSP_mappings:2zjl.A;PDB-ENSP_mappings:2zjm.A;PDB-ENSP_mappings:2zjn.A;PDB-ENSP_mappings:3bra.A;PDB-ENSP_mappings:3buf.A;PDB-ENSP_mappings:3bug.A;PDB-ENSP_mappings:3buh.A;PDB-ENSP_mappings:3cib.A;PDB-ENSP_mappings:3cib.B;PDB-ENSP_mappings:3cic.A;PDB-ENSP_mappings:3cic.B;PDB-ENSP_mappings:3cid.A;PDB-ENSP_mappings:3cid.B;PDB-ENSP_mappings:3ckp.A;PDB-ENSP_mappings:3ckp.B;PDB-ENSP_mappings:3ckp.C;PDB-ENSP_mappings:3ckr.A;PDB-ENSP_mappings:3ckr.B;PDB-ENSP_mappings:3ckr.C;PDB-ENSP_mappings:3dm6.A;PDB-ENSP_mappings:3dm6.B;PDB-ENSP_mappings:3dm6.C;PDB-ENSP_mappings:3duy.A;PDB-ENSP_mappings:3duy.B;PDB-ENSP_mappings:3duy.C;PDB-ENSP_mappings:3dv1.A;PDB-ENSP_mappings:3dv1.B;PDB-ENSP_mappings:3dv1.C;PDB-ENSP_mappings:3dv5.A;PDB-ENSP_mappings:3dv5.B;PDB-ENSP_mappings:3dv5.C;PDB-ENSP_mappings:3exo.A;PDB-ENSP_mappings:3fkt.A;PDB-ENSP_mappings:3h0b.A;PDB-ENSP_mappings:3h0"}},{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"AATTCGTTTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1184352","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IL10RA",3587,"BI","GRCh38","chr11",117989575,117989575,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.322C>A","p.His108Asn","p.H108N","ENST00000227752","2024-03-07",56,44,12,102,null,null,"IL10RA,missense_variant,p.H108N,ENST00000227752,NM_001558.4,c.322C>A,MODERATE,YES,tolerated(0.24),benign(0.159),1;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,,n.529C>A,MODIFIER,,,,1;IL10RA,non_coding_transcript_exon_variant,,ENST00000534335,,n.142C>A,MODIFIER,,,,1;IL10RA,3_prime_UTR_variant,,ENST00000534574,,c.*262C>A,MODIFIER,,,,1;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,,n.1900C>A,MODIFIER,,,,1;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,,n.699C>A,MODIFIER,,,,1;IL10RA,non_coding_transcript_exon_variant,,ENST00000531365,,n.349C>A,MODIFIER,,,,1;IL10RA,intron_variant,,ENST00000526544,,c.188+1073C>A,MODIFIER,,,,1;IL10RA,upstream_gene_variant,,ENST00000530178,,,MODIFIER,,,,1;IL10RA,upstream_gene_variant,,ENST00000532009,,,MODIFIER,,,,1","A","ENSG00000110324","ENST00000227752","Transcript","missense_variant","missense_variant","396/3653","322/1737","108/578","H/N","Cac/Aac","COSV57139899",null,1,"IL10RA","HGNC","HGNC:5964","protein_coding","YES","CCDS8388.1","ENSP00000227752","Q13651.173",null,"UPI000013C8BF",null,"NM_001558.4","NM_001558.4","P1",null,"tolerated(0.24)","benign(0.159)","2024-03-07",null,"PDB-ENSP_mappings:1j7v.R;PDB-ENSP_mappings:1lqs.R;PDB-ENSP_mappings:1lqs.S;PDB-ENSP_mappings:1y6k.R;PDB-ENSP_mappings:1y6m.R;PDB-ENSP_mappings:1y6n.R;PANTHER:PTHR20859:SF43;PANTHER:PTHR20859;Gene3D:2.60.40.10;Pfam:PF01108;Superfamily:SSF49265",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCCGGCACTCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4018233","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NLRX1",79671,"BI","GRCh38","chr11",119173672,119173672,"+","Frame_Shift_Del","DEL","C","C","-","rs767102699",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.428del","p.Pro143HisfsTer81","p.P143Hfs*81","ENST00000292199","2024-05-10",54,46,8,76,null,null,"NLRX1,frameshift_variant,p.P143Hfs*81,ENST00000409109,NM_001282144.2,c.428del,HIGH,YES,,,1;NLRX1,frameshift_variant,p.P143Hfs*81,ENST00000292199,NM_024618.4,c.428del,HIGH,,,,1;NLRX1,frameshift_variant,p.P143Hfs*81,ENST00000409991,NM_001282143.2,c.428del,HIGH,,,,1;NLRX1,frameshift_variant,p.P143Hfs*81,ENST00000409265,NM_001282358.1,c.428del,HIGH,,,,1;NLRX1,frameshift_variant,p.P143Hfs*81,ENST00000525863,,c.428del,HIGH,,,,1;NLRX1,frameshift_variant,p.P143Hfs*?,ENST00000454811,,c.428del,HIGH,,,,1;NLRX1,downstream_gene_variant,,ENST00000422249,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000449394,,,MODIFIER,,,,1;NLRX1,non_coding_transcript_exon_variant,,ENST00000468765,,n.562del,MODIFIER,,,,1;NLRX1,non_coding_transcript_exon_variant,,ENST00000482180,,n.505del,MODIFIER,,,,1;NLRX1,upstream_gene_variant,,ENST00000469103,,,MODIFIER,,,,1;NLRX1,downstream_gene_variant,,ENST00000474751,,,MODIFIER,,,,1;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,,n.559del,MODIFIER,,,,1;NLRX1,non_coding_transcript_exon_variant,,ENST00000524562,,n.662del,MODIFIER,,,,1","-","ENSG00000160703","ENST00000292199","Transcript","frameshift_variant","frameshift_variant","664/3744","423/2928","141/975","L/X","ctC/ct","rs767102699",null,1,"NLRX1","HGNC","HGNC:29890","protein_coding",null,"CCDS8416.1","ENSP00000292199","Q86UT6.150",null,"UPI0000161217","Q86UT6-1","NM_024618.4",null,"P1",{"$nulls":3},"2024-05-10",null,"PANTHER:PTHR24114;PANTHER:PTHR24114:SF31;Low_complexity_(Seg):seg",{"$nulls":8},"7.974e-06",0,0,0,0,0,"8.821e-06",0,"3.267e-05","3.267e-05","gnomAD_SAS",{"$nulls":22},"HIGH",null,"deletion",1,5,null,null,"CGGGCTCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1351797","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["C1S",716,"BI","GRCh38","chr12",7069972,7069972,"+","Missense_Mutation","SNP","C","C","T","rs375077429",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1388C>T","p.Ala463Val","p.A463V","ENST00000328916","2024-12-12",68,62,5,110,null,null,"C1S,missense_variant,p.A463V,ENST00000406697,,c.1388C>T,MODERATE,YES,tolerated(0.25),possibly_damaging(0.51),1;C1S,missense_variant,p.A463V,ENST00000328916,,c.1388C>T,MODERATE,,tolerated(0.25),possibly_damaging(0.51),1;C1S,missense_variant,p.A457V,ENST00000617865,,c.1370C>T,MODERATE,,tolerated(0.22),benign(0.251),1;C1S,missense_variant,p.A463V,ENST00000360817,NM_201442.4&NM_001734.5,c.1388C>T,MODERATE,,tolerated(0.25),possibly_damaging(0.51),1;C1S,missense_variant,p.A296V,ENST00000402681,NM_001346850.2,c.887C>T,MODERATE,,tolerated(0.31),possibly_damaging(0.51),1;C1S,downstream_gene_variant,,ENST00000542978,,,MODIFIER,,,,1;C1S,non_coding_transcript_exon_variant,,ENST00000495061,,n.564C>T,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000541647,,,MODIFIER,,,,1;C1S,3_prime_UTR_variant,,ENST00000443875,,c.*425C>T,MODIFIER,,,,1;C1S,non_coding_transcript_exon_variant,,ENST00000461983,,n.809C>T,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000463798,,,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000470326,,,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000473545,,,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000495053,,,MODIFIER,,,,1;C1S,downstream_gene_variant,,ENST00000497061,,,MODIFIER,,,,1","T","ENSG00000182326","ENST00000328916","Transcript","missense_variant","missense_variant","1912/2972","1388/2067","463/688","A/V","gCg/gTg","rs375077429;COSV61070272",null,1,"C1S","HGNC","HGNC:1247","protein_coding",null,"CCDS31735.1","ENSP00000328173","P09871.239",null,"UPI0000126BF6",{"$nulls":3},"P1",null,"tolerated(0.25)","possibly_damaging(0.51)","2024-12-12",null,"PDB-ENSP_mappings:1elv.A;PDB-ENSP_mappings:4j1y.A;PDB-ENSP_mappings:4j1y.B;PDB-ENSP_mappings:5ubm.A;CDD:cd00190;Pfam:PF00089;PIRSF:PIRSF001155;Gene3D:2.40.10.10;Gene3D:2.40.10.10;SMART:SM00020;Superfamily:SSF50494;PROSITE_profiles:PS50240;PANTHER:PTHR24255:SF18;PANTHER:PTHR24255;Prints:PR00722",0.0002,{"$nulls":7},"1.193e-05",0,"2.891e-05",0,"5.437e-05",0,"8.791e-06",0,0,"5.437e-05","gnomAD_EAS","1.3526099792215973e-05",0,0,0,0,0.000202102004550397,0,0,"1.543260077596642e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"TGGAGCGCTCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4044665","N","Unknown",{"$nulls":3},"muse;mutect2"]
["FAM90A1",55138,"BI","GRCh38","chr12",8222028,8222028,"+","Missense_Mutation","SNP","G","G","A","rs759052041",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1189C>T","p.Arg397Trp","p.R397W","ENST00000307435","2024-06-06",30,26,4,86,null,null,"FAM90A1,missense_variant,p.R397W,ENST00000538603,NM_018088.3,c.1189C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.978),-1;FAM90A1,missense_variant,p.R397W,ENST00000307435,NM_001319982.1,c.1189C>T,MODERATE,,deleterious(0.02),probably_damaging(0.978),-1;FAM90A1,downstream_gene_variant,,ENST00000442295,,,MODIFIER,,,,-1;DEFB109F,upstream_gene_variant,,ENST00000542600,,,MODIFIER,YES,,,-1;AC092111.1,downstream_gene_variant,,ENST00000618256,,,MODIFIER,YES,,,1","A","ENSG00000171847","ENST00000307435","Transcript","missense_variant","missense_variant","1574/2342","1189/1395","397/464","R/W","Cgg/Tgg","rs759052041;COSV56710439",null,-1,"FAM90A1","HGNC","HGNC:25526","protein_coding",null,"CCDS31738.1","ENSP00000307798","Q86YD7.117",null,"UPI000013EC10",null,"NM_001319982.1",null,"P1",null,"deleterious(0.02)","probably_damaging(0.978)","2024-06-06",null,"PANTHER:PTHR16035;PANTHER:PTHR16035:SF13",{"$nulls":8},"8.364e-06",0,0,0,1.1E-4,0,0,0,0,1.1E-4,"gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"TCTCCGAAAGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM287778","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["FGD4",121512,"BI","GRCh38","chr12",32602247,32602247,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.923A>G","p.Asn308Ser","p.N308S","ENST00000427716","2024-07-17",107,96,11,192,null,null,"FGD4,missense_variant,p.N308S,ENST00000427716,NM_139241.3,c.923A>G,MODERATE,,deleterious(0.02),benign(0.047),1;FGD4,missense_variant,p.N215S,ENST00000546442,NM_001330374.1&NM_001304484.1&NM_001330373.1&NM_001304483.1&NM_001370297.1,c.644A>G,MODERATE,,deleterious(0.01),benign(0.047),1;FGD4,missense_variant,p.N445S,ENST00000534526,NM_001370298.1,c.1334A>G,MODERATE,YES,deleterious(0.02),benign(0.022),1;FGD4,missense_variant,p.N420S,ENST00000525053,NM_001304480.1,c.1259A>G,MODERATE,,deleterious(0.02),benign(0.038),1;FGD4,missense_variant,p.N393S,ENST00000531134,NM_001304481.1,c.1178A>G,MODERATE,,deleterious(0.02),benign(0.062),1;FGD4,3_prime_UTR_variant,,ENST00000493087,,c.*315A>G,MODIFIER,,,,1;FGD4,3_prime_UTR_variant,,ENST00000395740,,c.*315A>G,MODIFIER,,,,1;FGD4,3_prime_UTR_variant,,ENST00000551984,,c.*292A>G,MODIFIER,,,,1;FGD4,3_prime_UTR_variant,,ENST00000494977,,c.*315A>G,MODIFIER,,,,1","G","ENSG00000139132","ENST00000427716","Transcript","missense_variant","missense_variant","1347/8242","923/2301","308/766","N/S","aAt/aGt","COSV56781047",null,1,"FGD4","HGNC","HGNC:19125","protein_coding",null,"CCDS8727.1","ENSP00000394487","Q96M96.163",null,"UPI000004CCA6","Q96M96-1","NM_139241.3",null,"P4",null,"deleterious(0.02)","benign(0.047)","2024-07-17",null,"PROSITE_profiles:PS50010;CDD:cd00160;PANTHER:PTHR12673:SF98;PANTHER:PTHR12673;Pfam:PF00621;Gene3D:1.20.900.10;SMART:SM00325;Superfamily:SSF48065",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,1,"TGATAATGCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4041429;COSM4041430;COSM4041431","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ALG10B",144245,"BI","GRCh38","chr12",38320557,38320557,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.766C>T","p.Pro256Ser","p.P256S","ENST00000308742","2024-03-03",334,322,12,554,null,null,"ALG10B,missense_variant,p.P256S,ENST00000308742,NM_001013620.4,c.766C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.867),1;ALG10B,intron_variant,,ENST00000551464,NM_001308340.2,c.369+2099C>T,MODIFIER,,,,1;ALG10B,3_prime_UTR_variant,,ENST00000548240,,c.*506C>T,MODIFIER,,,,1;ALG10B,downstream_gene_variant,,ENST00000553138,,,MODIFIER,,,,1","T","ENSG00000175548","ENST00000308742","Transcript","missense_variant","missense_variant","886/10050","766/1422","256/473","P/S","Ccc/Tcc","COSV58142548",null,1,"ALG10B","HGNC","HGNC:31088","protein_coding","YES","CCDS31772.1","ENSP00000310120","Q5I7T1.125",null,"UPI000013EDA4",null,"NM_001013620.4","NM_001013620.4","P1",null,"deleterious(0.01)","possibly_damaging(0.867)","2024-03-03",null,"Pfam:PF04922;PIRSF:PIRSF028810;PANTHER:PTHR12989;PANTHER:PTHR12989:SF12;Transmembrane_helices:TMhelix",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTTGGCCCTAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4041522","N","Unknown",{"$nulls":3},"muse;mutect2"]
["KRT81",3887,"BI","GRCh38","chr12",52288109,52288109,"+","Missense_Mutation","SNP","C","C","T","rs758856533",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.775G>A","p.Val259Met","p.V259M","ENST00000327741","2024-05-09",112,82,30,199,null,null,"KRT81,missense_variant,p.V259M,ENST00000327741,NM_002281.4,c.775G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.532),-1;KRT81,missense_variant,p.V259M,ENST00000615839,,c.775G>A,MODERATE,,deleterious(0.01),benign(0.397),-1;KRT86,intron_variant,,ENST00000423955,NM_001320198.2,c.-5+12163C>T,MODIFIER,YES,,,1;KRT86,intron_variant,,ENST00000553310,,c.-4-13804C>T,MODIFIER,,,,1","T","ENSG00000205426","ENST00000327741","Transcript","missense_variant","missense_variant","844/1929","775/1518","259/505","V/M","Gtg/Atg","rs758856533;COSV59809252",null,-1,"KRT81","HGNC","HGNC:6458","protein_coding","YES","CCDS31805.1","ENSP00000369349","Q14533.168",null,"UPI0000DBEEF8",null,"NM_002281.4","NM_002281.4","A2",null,"deleterious(0.01)","possibly_damaging(0.532)","2024-05-09",null,"Pfam:PF00038;PROSITE_profiles:PS51842;PANTHER:PTHR45616;PANTHER:PTHR45616:SF36;SMART:SM01391",{"$nulls":8},"7.555e-05",0,"2.891e-05",0.0006944,0,0,"8.79e-05",1.629E-4,0,0.0006944,"gnomAD_ASJ","8.792459993856028e-05",0,0,"6.626029789913446e-05",0.000605694018304348,0,0,0.00328946998342871,0.000138914998387917,0,0,0.000605694018304348,"asj",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"AACCACGGAGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM2010286","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UTP20",27340,"BI","GRCh38","chr12",101327094,101327094,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3055C>T","p.Arg1019Ter","p.R1019*","ENST00000261637","26/62",94,82,12,140,null,null,"UTP20,stop_gained,p.R1019*,ENST00000261637,NM_014503.3,c.3055C>T,HIGH,YES,,,1;UTP20,non_coding_transcript_exon_variant,,ENST00000551345,,n.240C>T,MODIFIER,,,,1","T","ENSG00000120800","ENST00000261637","Transcript","stop_gained","stop_gained","3233/9031","3055/8358","1019/2785","R/*","Cga/Tga","COSV55371671",null,1,"UTP20","HGNC","HGNC:17897","protein_coding","YES","CCDS9081.1","ENSP00000261637","O75691.161",null,"UPI00001FB38B",null,"NM_014503.3","NM_014503.3","P1",{"$nulls":3},"26/62",null,"Pfam:PF07539;PANTHER:PTHR17695;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"ATGGGCGAATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1677282","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC60",160777,"BI","GRCh38","chr12",119516653,119516653,"+","Missense_Mutation","SNP","A","A","G","rs752027529",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.914A>G","p.Glu305Gly","p.E305G","ENST00000327554","2024-08-14",56,48,7,117,null,null,"CCDC60,missense_variant,p.E305G,ENST00000327554,NM_178499.5,c.914A>G,MODERATE,YES,deleterious(0.03),probably_damaging(0.998),1;AC002070.1,intron_variant,,ENST00000509470,,n.418+36895T>C,MODIFIER,YES,,,-1;AC002070.1,intron_variant,,ENST00000535511,,n.157+36895T>C,MODIFIER,,,,-1;AC002070.1,intron_variant,,ENST00000537366,,n.235+36895T>C,MODIFIER,,,,-1;AC002070.1,intron_variant,,ENST00000665601,,n.159+36895T>C,MODIFIER,,,,-1","G","ENSG00000183273","ENST00000327554","Transcript","missense_variant","missense_variant","1362/2426","914/1653","305/550","E/G","gAa/gGa","rs752027529;COSV59541125",null,1,"CCDC60","HGNC","HGNC:28610","protein_coding","YES","CCDS9190.1","ENSP00000333374","Q8IWA6.106",null,"UPI000019906E",null,"NM_178499.5","NM_178499.5","P1",null,"deleterious(0.03)","probably_damaging(0.998)","2024-08-14",null,"PANTHER:PTHR34754;Pfam:PF15769",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCGGGAAGATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4039279","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATP6V0A2",23545,"BI","GRCh38","chr12",123724672,123724672,"+","Missense_Mutation","SNP","G","G","A","rs769927427",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.313G>A","p.Glu105Lys","p.E105K","ENST00000330342","2024-04-20",180,163,17,354,null,null,"ATP6V0A2,missense_variant,p.E105K,ENST00000330342,NM_012463.4,c.313G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.679),1;ATP6V0A2,missense_variant,p.E105K,ENST00000613625,,c.313G>A,MODERATE,,deleterious(0.02),probably_damaging(0.996),1;ATP6V0A2,5_prime_UTR_variant,,ENST00000504192,,c.-78G>A,MODIFIER,,,,1;ATP6V0A2,missense_variant,p.E105K,ENST00000675344,,c.313G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.559),1;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000540368,,n.344G>A,MODIFIER,,,,1;ATP6V0A2,upstream_gene_variant,,ENST00000674794,,,MODIFIER,,,,1;RPL27P12,upstream_gene_variant,,ENST00000472241,,,MODIFIER,YES,,,-1;AC117503.5,upstream_gene_variant,,ENST00000652313,,,MODIFIER,YES,,,-1","A","ENSG00000185344","ENST00000330342","Transcript","missense_variant","missense_variant","526/6507","313/2571","105/856","E/K","Gag/Aag","rs769927427;COSV57747972",null,1,"ATP6V0A2","HGNC","HGNC:18481","protein_coding","YES","CCDS9254.1","ENSP00000332247","Q9Y487.173",null,"UPI00001AFC09",null,"NM_012463.4","NM_012463.4","P1",null,"deleterious(0)","possibly_damaging(0.679)","2024-04-20",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR11629:SF22;PANTHER:PTHR11629;PIRSF:PIRSF001293;Pfam:PF01496",{"$nulls":8},"2.386e-05",0.0001845,"2.891e-05",0,0,0,"1.759e-05",0,0,0.0001845,"gnomAD_AFR","4.734850153909065e-05","7.300340075744316e-05",0,0,0,0,0,0,"6.172079883981496e-05",0,0,"7.300340075744316e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"AGCTCGAGGTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4039787","N","Unknown",{"$nulls":3},"muse;mutect2"]
["EP400",57634,"BI","GRCh38","chr12",132045856,132045856,"+","Missense_Mutation","SNP","C","C","T","rs1297355376",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.7156C>T","p.Arg2386Trp","p.R2386W","ENST00000389561","39/53",45,42,3,66,null,null,"EP400,missense_variant,p.R2386W,ENST00000389561,NM_015409.5,c.7156C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;EP400,non_coding_transcript_exon_variant,,ENST00000611841,,n.2530C>T,MODIFIER,,,,1","T","ENSG00000183495","ENST00000389561","Transcript","missense_variant","missense_variant","7286/12289","7156/9372","2386/3123","R/W","Cgg/Tgg","rs1297355376",null,1,"EP400","HGNC","HGNC:11958","protein_coding","YES","CCDS31929.2","ENSP00000374212","Q96L91.184",null,"UPI00004566BC","Q96L91-2","NM_015409.5","NM_015409.5","P1",null,"deleterious(0)","probably_damaging(0.999)","39/53",null,"PROSITE_profiles:PS50090;PANTHER:PTHR46459;Gene3D:1.10.10.60",{"$nulls":8},"7.955e-06",0,0,0,"5.437e-05",0,"8.794e-06",0,0,"5.437e-05","gnomAD_EAS",{"$nulls":22},"MODERATE",1,"SNV",5,{"$nulls":3},"AGTGCCGGAAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["P2RX2",22953,"BI","GRCh38","chr12",132619452,132619452,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.187G>A","p.Val63Met","p.V63M","ENST00000343948","2024-02-10",112,94,18,210,null,null,"P2RX2,missense_variant,p.V63M,ENST00000542301,NM_001282165.2,c.187G>A,MODERATE,,tolerated(0.18),probably_damaging(0.924),1;P2RX2,missense_variant,p.V63M,ENST00000643471,NM_170682.4,c.187G>A,MODERATE,,deleterious(0.04),probably_damaging(0.934),1;P2RX2,missense_variant,p.V63M,ENST00000343948,NM_170683.4,c.187G>A,MODERATE,YES,tolerated(0.09),probably_damaging(0.945),1;P2RX2,missense_variant,p.V63M,ENST00000350048,NM_016318.4,c.187G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.831),1;P2RX2,missense_variant,p.V63M,ENST00000348800,NM_174873.3,c.187G>A,MODERATE,,tolerated(0.16),probably_damaging(0.964),1;P2RX2,missense_variant,p.R40H,ENST00000352418,NM_012226.5,c.119G>A,MODERATE,,deleterious_low_confidence(0),benign(0.102),1;P2RX2,missense_variant,p.V63M,ENST00000449132,NM_001282164.2,c.187G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.872),1;P2RX2,intron_variant,,ENST00000351222,NM_174872.3,c.106-392G>A,MODIFIER,,,,1;POLE,downstream_gene_variant,,ENST00000320574,NM_006231.4,,MODIFIER,YES,,,-1;AC131212.4,downstream_gene_variant,,ENST00000623606,,,MODIFIER,YES,,,-1;POLE,downstream_gene_variant,,ENST00000434528,,,MODIFIER,,,,-1;POLE,downstream_gene_variant,,ENST00000537064,,,MODIFIER,,,,-1;POLE,downstream_gene_variant,,ENST00000541627,,,MODIFIER,,,,-1;POLE,downstream_gene_variant,,ENST00000672002,,,MODIFIER,,,,-1;POLE,downstream_gene_variant,,ENST00000672742,,,MODIFIER,,,,-1","A","ENSG00000187848","ENST00000343948","Transcript","missense_variant","missense_variant","187/1494","187/1494","63/497","V/M","Gtg/Atg","COSV57675396",null,1,"P2RX2","HGNC","HGNC:15459","protein_coding","YES","CCDS31930.1","ENSP00000343339","Q9UBL9.166",null,"UPI000002B04A","Q9UBL9-4","NM_170683.4",{"$nulls":3},"tolerated(0.09)","probably_damaging(0.945)","2024-02-10",null,"Transmembrane_helices:TMhelix;PANTHER:PTHR10125;PANTHER:PTHR10125:SF4;Pfam:PF00864;TIGRFAM:TIGR00863;PIRSF:PIRSF005713;Gene3D:1.10.287.940",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TCATCGTGCAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4040338","N","Unknown",{"$nulls":3},"muse;varscan2"]
["DCLK1",9201,"BI","GRCh38","chr13",36111894,36111894,"+","Missense_Mutation","SNP","C","C","T","rs1237880518",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.698G>A","p.Arg233His","p.R233H","ENST00000360631","2024-03-17",83,63,20,149,null,null,"DCLK1,missense_variant,p.R233H,ENST00000360631,NM_001330072.2&NM_001330071.2,c.698G>A,MODERATE,YES,deleterious(0),probably_damaging(0.988),-1;DCLK1,missense_variant,p.R233H,ENST00000255448,NM_004734.5,c.698G>A,MODERATE,,deleterious(0),probably_damaging(0.969),-1;DCLK1,missense_variant,p.R233H,ENST00000379892,,c.698G>A,MODERATE,,deleterious(0),probably_damaging(0.953),-1","T","ENSG00000133083","ENST00000360631","Transcript","missense_variant","missense_variant","986/8394","698/2223","233/740","R/H","cGc/cAc","rs1237880518;COSV55172983",null,-1,"DCLK1","HGNC","HGNC:2700","protein_coding","YES","CCDS81762.1","ENSP00000353846","O15075.193",null,"UPI000004F5EA","O15075-1","NM_001330072.2;NM_001330071.2","NM_001330071.2","P3",null,"deleterious(0)","probably_damaging(0.988)","2024-03-17",null,"Gene3D:3.10.20.230;Pfam:PF03607;PROSITE_profiles:PS50309;PANTHER:PTHR24347;PANTHER:PTHR24347:SF401;SMART:SM00537;Superfamily:SSF89837;CDD:cd17069",{"$nulls":8},"3.98e-06",0,0,0,0,0,"8.797e-06",0,0,"8.797e-06","gnomAD_NFE","6.758949893992394e-06",0,0,0,0,0,"9.416200191481039e-05",0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"ACAGGCGTTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1366635;COSM1366636;COSM4047310","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDH9",5101,"BI","GRCh38","chr13",67227578,67227578,"+","Missense_Mutation","SNP","C","C","T","rs778185688",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.863G>A","p.Arg288Gln","p.R288Q","ENST00000377865","2024-02-05",110,98,12,178,null,null,"PCDH9,missense_variant,p.R288Q,ENST00000377861,NM_001318374.2,c.863G>A,MODERATE,,tolerated(0.22),benign(0.003),-1;PCDH9,missense_variant,p.R288Q,ENST00000544246,NM_001318373.2&NM_020403.5,c.863G>A,MODERATE,,tolerated(0.19),benign(0),-1;PCDH9,missense_variant,p.R288Q,ENST00000377865,NM_203487.3,c.863G>A,MODERATE,YES,tolerated(0.2),benign(0.003),-1;PCDH9,missense_variant,p.R288Q,ENST00000456367,NM_001318372.2,c.863G>A,MODERATE,,tolerated(0.2),benign(0.001),-1","T","ENSG00000184226","ENST00000377865","Transcript","missense_variant","missense_variant","1555/6227","863/3714","288/1237","R/Q","cGg/cAg","rs778185688;COSV60533168;COSV60569030",null,-1,"PCDH9","HGNC","HGNC:8661","protein_coding","YES","CCDS9444.1","ENSP00000367096","Q9HC56.155","X5D7N0.40","UPI00001FCE90","Q9HC56-1","NM_203487.3","NM_203487.3","A1",null,"tolerated(0.2)","benign(0.003)","2024-02-05",null,"Gene3D:2.60.40.60;PDB-ENSP_mappings:2ee0.A;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF248;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":8},"9.147e-05",0,0,0,0,0,"8.792e-06",0,0.0007186,0.0007186,"gnomAD_SAS","6.765630132576916e-06",0,0,0,0,0,0,0,0,0,0.000209118006750941,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"TGTACCGGATT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4048270;COSM4048271","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NALCN",259232,"BI","GRCh38","chr13",101059903,101059903,"+","Missense_Mutation","SNP","C","C","T","rs370886839",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.4820G>A","p.Arg1607Gln","p.R1607Q","ENST00000251127","42/44",74,64,10,145,null,null,"NALCN,missense_variant,p.R1607Q,ENST00000251127,NM_001350749.2&NM_052867.4,c.4820G>A,MODERATE,,tolerated(0.39),benign(0.007),-1;NALCN,missense_variant,p.R1636Q,ENST00000675332,NM_001350748.2,c.4907G>A,MODERATE,YES,tolerated(0.38),benign(0.005),-1;NALCN,missense_variant,p.R1578Q,ENST00000676315,NM_001350751.2&NM_001350750.2,c.4733G>A,MODERATE,,tolerated(0.36),benign(0.003),-1;NALCN,missense_variant,p.R1514Q,ENST00000675150,,c.4541G>A,MODERATE,,tolerated(0.59),benign(0.041),-1;NALCN,3_prime_UTR_variant,,ENST00000648359,,c.*440G>A,MODIFIER,,,,-1;NALCN-AS1,downstream_gene_variant,,ENST00000457843,,,MODIFIER,YES,,,1","T","ENSG00000102452","ENST00000251127","Transcript","missense_variant","missense_variant","5055/6971","4820/5217","1607/1738","R/Q","cGg/cAg","rs370886839;COSV99218045",null,-1,"NALCN","HGNC","HGNC:19082","protein_coding",null,"CCDS9498.1","ENSP00000251127","Q8IZF0.168","A0A024RE05.44","UPI000004EBBD","Q8IZF0-1","NM_001350749.2;NM_052867.4","NM_052867.4","P1",null,"tolerated(0.39)","benign(0.007)","42/44",null,"PANTHER:PTHR46141;PANTHER:PTHR46141:SF1",0.0002,0,0,0,0,1E-3,0,0.0001163,"1.591e-05",0,0,0,"5.44e-05",0,"1.759e-05",0,"3.266e-05",1E-3,"SAS","1.3539899555325974e-05",0,0,0,0,0,0,0,"1.5435000022989698e-05",0,0.000209204998100176,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GAAACCGGCTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM945009","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL4A2",1284,"BI","GRCh38","chr13",110430557,110430557,"+","Missense_Mutation","SNP","C","C","T","rs1384344513",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.598C>T","p.Arg200Cys","p.R200C","ENST00000360467","10/48",141,125,16,257,null,null,"COL4A2,missense_variant,p.R200C,ENST00000360467,NM_001846.4,c.598C>T,MODERATE,YES,tolerated(0.19),possibly_damaging(0.683),1;COL4A2,missense_variant,p.R200C,ENST00000650540,,c.598C>T,MODERATE,,tolerated(0.18),possibly_damaging(0.555),1;COL4A2,downstream_gene_variant,,ENST00000619688,,,MODIFIER,,,,1;COL4A2,non_coding_transcript_exon_variant,,ENST00000462309,,n.399C>T,MODIFIER,,,,1","T","ENSG00000134871","ENST00000360467","Transcript","missense_variant","missense_variant","887/6446","598/5139","200/1712","R/C","Cgc/Tgc","rs1384344513;COSV64625647",null,1,"COL4A2","HGNC","HGNC:2203","protein_coding","YES","CCDS41907.1","ENSP00000353654","P08572.216","A0A024RDW8.56","UPI000041C713",null,"NM_001846.4","NM_001846.4","P1",null,"tolerated(0.19)","possibly_damaging(0.683)","10/48",null,"Pfam:PF01391;PANTHER:PTHR24023;PANTHER:PTHR24023:SF588",{"$nulls":19},"6.758859854016919e-06","2.4320199372596107e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"CCGGCCGCCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4045959","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARHGEF40",55701,"BI","GRCh38","chr14",21081002,21081002,"+","Missense_Mutation","SNP","C","C","T","rs370713697",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2626C>T","p.Arg876Cys","p.R876C","ENST00000298694","13/24",135,111,24,239,null,null,"ARHGEF40,missense_variant,p.R876C,ENST00000298694,NM_001278529.2&NM_018071.5&NM_001278530.2,c.2626C>T,MODERATE,YES,deleterious(0),probably_damaging(0.982),1;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,,c.*790C>T,MODIFIER,,,,1;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,,c.*950C>T,MODIFIER,,,,1;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,,n.858C>T,MODIFIER,,,,1;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,,n.106C>T,MODIFIER,,,,1;ARHGEF40,downstream_gene_variant,,ENST00000555052,,,MODIFIER,,,,1","T","ENSG00000165801","ENST00000298694","Transcript","missense_variant","missense_variant","2719/5893","2626/4560","876/1519","R/C","Cgc/Tgc","rs370713697",null,1,"ARHGEF40","HGNC","HGNC:25516","protein_coding","YES","CCDS32041.1","ENSP00000298694","Q8TER5.131",null,"UPI00001FCFB7","Q8TER5-1","NM_001278529.2;NM_018071.5;NM_001278530.2","NM_018071.5","P1",null,"deleterious(0)","probably_damaging(0.982)","13/24",null,"PANTHER:PTHR45845;PANTHER:PTHR45845:SF5",{"$nulls":6},0,0.0004651,"8.796e-05","6.159e-05",0,0,0,0,0.0001859,0,0,0.0004651,"EA","2.703179961827118e-05",0,0,0,0,0,0,0,"6.172079883981496e-05",0,0,"6.172079883981496e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",2,{"$nulls":3},"TACAGCGCTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4049784","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARID4A",5926,"BI","GRCh38","chr14",58364401,58364401,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2316del","p.Phe772LeufsTer33","p.F772Lfs*33","ENST00000355431","20/24",79,71,8,128,null,null,"ARID4A,frameshift_variant,p.F772Lfs*33,ENST00000355431,NM_002892.4,c.2316del,HIGH,YES,,,1;ARID4A,frameshift_variant,p.F772Lfs*33,ENST00000431317,,c.2316del,HIGH,,,,1;ARID4A,frameshift_variant,p.F772Lfs*33,ENST00000348476,NM_023001.2,c.2316del,HIGH,,,,1;ARID4A,frameshift_variant,p.F772Lfs*33,ENST00000395168,NM_023000.2,c.2316del,HIGH,,,,1;ARID4A,frameshift_variant,p.F450Lfs*33,ENST00000417477,,c.1350del,HIGH,,,,1;ARID4A,upstream_gene_variant,,ENST00000466065,,,MODIFIER,,,,1;ARID4A,downstream_gene_variant,,ENST00000469635,,,MODIFIER,,,,1","-","ENSG00000032219","ENST00000355431","Transcript","frameshift_variant","frameshift_variant","2515/5864","2312/3774","771/1257","I/X","aTt/at",null,null,1,"ARID4A","HGNC","HGNC:9885","protein_coding","YES","CCDS9732.1","ENSP00000347602","P29374.184","A0A024R657.53","UPI000013FD01","P29374-1","NM_002892.4","NM_002892.4","P2",{"$nulls":3},"20/24",null,"PANTHER:PTHR13964;PANTHER:PTHR13964:SF26",{"$nulls":41},"HIGH",1,"deletion",1,4,null,null,"TACAGATTTTTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM5053999;COSM5054000","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["FAN1",22909,"BI","GRCh38","chr15",30905445,30905445,"+","Missense_Mutation","SNP","C","C","T","rs137920161",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.782C>T","p.Ala261Val","p.A261V","ENST00000362065","2024-02-15",65,57,8,119,null,null,"FAN1,missense_variant,p.A261V,ENST00000362065,NM_014967.5,c.782C>T,MODERATE,YES,tolerated(0.22),benign(0.129),1;FAN1,missense_variant,p.A261V,ENST00000656435,,c.782C>T,MODERATE,,tolerated(0.22),benign(0.129),1;FAN1,missense_variant,p.A261V,ENST00000670849,,c.782C>T,MODERATE,,tolerated(0.22),benign(0.129),1;FAN1,missense_variant,p.A261V,ENST00000657391,,c.782C>T,MODERATE,,tolerated(0.22),benign(0.129),1;FAN1,missense_variant,p.A261V,ENST00000561594,NM_001146095.1,c.782C>T,MODERATE,,deleterious(0),benign(0.021),1;FAN1,missense_variant,p.A261V,ENST00000561607,NM_001146096.1&NM_001146094.1,c.782C>T,MODERATE,,deleterious(0),benign(0.021),1;FAN1,missense_variant,p.A261V,ENST00000565466,,c.782C>T,MODERATE,,deleterious(0),benign(0.021),1;FAN1,missense_variant,p.A261V,ENST00000658773,,c.782C>T,MODERATE,,deleterious(0),benign(0.021),1;FAN1,intron_variant,,ENST00000562892,,c.-57+855C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000664837,,c.-57+855C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000666143,,c.-229-280C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000667837,,n.965+92C>T,MODIFIER,,,,1;FAN1,missense_variant,p.A93V,ENST00000661974,,c.278C>T,MODERATE,,deleterious(0),possibly_damaging(0.46),1;FAN1,missense_variant,p.A261V,ENST00000664070,,c.782C>T,MODERATE,,deleterious(0),benign(0.111),1;FAN1,missense_variant,p.A261V,ENST00000565280,,c.782C>T,MODERATE,,deleterious(0),possibly_damaging(0.46),1;FAN1,non_coding_transcript_exon_variant,,ENST00000655421,,n.1053C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000656307,,n.1034C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000602886,,n.959C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000666852,,n.1034C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000665705,,n.1021C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000662114,,n.1038C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000665894,,n.1042C>T,MODIFIER,,,,1;FAN1,non_coding_transcript_exon_variant,,ENST00000654013,,n.1058C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000568145,,n.110+855C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000654056,,c.-57+855C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000656109,,n.179+855C>T,MODIFIER,,,,1;FAN1,intron_variant,,ENST00000670074,,c.690+92C>T,MODIFIER,,,,1","T","ENSG00000198690","ENST00000362065","Transcript","missense_variant","missense_variant","1031/4849","782/3054","261/1017","A/V","gCg/gTg","rs137920161;COSV62949859",null,1,"FAN1","HGNC","HGNC:29170","protein_coding","YES","CCDS32186.1","ENSP00000354497","Q9Y2M0.136",null,"UPI000006D713","Q9Y2M0-1","NM_014967.5","NM_014967.5","P1",null,"tolerated(0.22)","benign(0.129)","2024-02-15",null,"PANTHER:PTHR15749:SF4;PANTHER:PTHR15749",{"$nulls":8},"2.387e-05",0,"5.782e-05",0,"5.437e-05",0,"2.639e-05",0,0,"5.782e-05","gnomAD_AMR","2.705080078158062e-05","2.4321399905602448e-05",0,0,0,0,0,0,"4.6302000555442646e-05",0,0,"4.6302000555442646e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TAATGCGATCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4053922;COSM4053923","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPTBN5",51332,"BI","GRCh38","chr15",41853307,41853307,"+","Missense_Mutation","SNP","C","C","T","rs542603385",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.10121G>A","p.Arg3374Gln","p.R3374Q","ENST00000320955","59/68",45,39,6,115,null,null,"SPTBN5,missense_variant,p.R3374Q,ENST00000320955,NM_016642.4,c.10121G>A,MODERATE,YES,tolerated(1),benign(0.003),-1;SPTBN5,upstream_gene_variant,,ENST00000563899,,,MODIFIER,,,,-1;RNA5SP393,upstream_gene_variant,,ENST00000363423,,,MODIFIER,YES,,,-1","T","ENSG00000137877","ENST00000320955","Transcript","missense_variant","missense_variant","10325/11699","10121/11025","3374/3674","R/Q","cGg/cAg","rs542603385;COSV58017487",null,-1,"SPTBN5","HGNC","HGNC:15680","protein_coding","YES","CCDS61599.1","ENSP00000317790","Q9NRC6.165",null,"UPI0000E59BE4",null,"NM_016642.4","NM_016642.4","P1",null,"tolerated(1)","benign(0.003)","59/68",null,"Gene3D:1.20.58.60;Coiled-coils_(Ncoils):Coil;Pfam:PF00435;PANTHER:PTHR11915;PANTHER:PTHR11915:SF433;SMART:SM00150;Superfamily:SSF46966;CDD:cd00176",{"$nulls":8},"4.828e-05","6.487e-05","2.901e-05",0,0,0,"1.777e-05",0,0.0002618,0.0002618,"gnomAD_SAS","4.055039971717633e-05","2.4308399588335305e-05",0,0,0,0,0,0,"1.543160033179447e-05",0,8.3402800373733E-4,8.3402800373733E-4,"sas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCTGCCGCAGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4054627","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEMA6D",80031,"BI","GRCh38","chr15",47767081,47767081,"+","Missense_Mutation","SNP","G","G","A","rs150769593",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1753G>A","p.Gly585Ser","p.G585S","ENST00000316364","17/19",51,45,6,88,null,null,"SEMA6D,missense_variant,p.G585S,ENST00000316364,NM_153618.2,c.1753G>A,MODERATE,YES,tolerated(0.11),benign(0),1;SEMA6D,missense_variant,p.G585S,ENST00000354744,NM_153617.2,c.1753G>A,MODERATE,,tolerated(0.08),benign(0.01),1;SEMA6D,missense_variant,p.G585S,ENST00000536845,NM_001358351.3&NM_001358352.2,c.1753G>A,MODERATE,,tolerated(0.11),benign(0),1;SEMA6D,missense_variant,p.G49S,ENST00000560006,,c.145G>A,MODERATE,,tolerated(0.29),benign(0.044),1;SEMA6D,missense_variant,p.G50S,ENST00000559064,,c.148G>A,MODERATE,,tolerated_low_confidence(0.28),probably_damaging(0.997),1;SEMA6D,intron_variant,,ENST00000355997,NM_153619.1,c.1708+404G>A,MODIFIER,,,,1;SEMA6D,intron_variant,,ENST00000358066,NM_020858.2,c.1747+404G>A,MODIFIER,,,,1;SEMA6D,intron_variant,,ENST00000389428,NM_153616.2,c.1708+404G>A,MODIFIER,,,,1;SEMA6D,intron_variant,,ENST00000558014,NM_001198999.2,c.1747+404G>A,MODIFIER,,,,1;SEMA6D,intron_variant,,ENST00000558816,,c.1708+404G>A,MODIFIER,,,,1;SEMA6D,downstream_gene_variant,,ENST00000389425,NM_024966.3,,MODIFIER,,,,1;SEMA6D,downstream_gene_variant,,ENST00000559196,,,MODIFIER,,,,1;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,,n.373G>A,MODIFIER,,,,1","A","ENSG00000137872","ENST00000316364","Transcript","missense_variant","missense_variant","2192/6099","1753/3222","585/1073","G/S","Ggt/Agt","rs150769593",null,1,"SEMA6D","HGNC","HGNC:16770","protein_coding","YES","CCDS32225.1","ENSP00000324857","Q8NFY4.147",null,"UPI000006E201","Q8NFY4-1","NM_153618.2",null,"P4",null,"tolerated(0.11)","benign(0)","17/19",null,"PANTHER:PTHR11036:SF65;PANTHER:PTHR11036",{"$nulls":6},0,0.0002328,"6.207e-05",0,0,0,0,0,0.0001342,0,0,0.0002328,"EA","5.427479845820926e-05",0,0,"6.647170084761456e-05",0,0,0,0,"9.27241999306716e-05",0,2.09467994864098E-4,"9.27241999306716e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TTGGCGGTCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4055227","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAAF4",161582,"BI","GRCh38","chr15",55432535,55432535,"+","Missense_Mutation","SNP","C","C","T","rs974724008",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1115G>A","p.Arg372His","p.R372H","ENST00000321149","2024-09-10",96,90,6,181,null,null,"DNAAF4,missense_variant,p.R372H,ENST00000321149,NM_130810.4,c.1115G>A,MODERATE,YES,deleterious(0.02),probably_damaging(1),-1;DNAAF4,missense_variant,p.R372H,ENST00000348518,,c.1115G>A,MODERATE,,deleterious(0.02),probably_damaging(1),-1;DNAAF4,intron_variant,,ENST00000448430,NM_001033560.1,c.1047+2370G>A,MODIFIER,,,,-1;DNAAF4,intron_variant,,ENST00000457155,NM_001033559.2,c.1048-1756G>A,MODIFIER,,,,-1;DNAAF4,3_prime_UTR_variant,,ENST00000524160,,c.*442G>A,MODIFIER,,,,-1;DNAAF4-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,,n.1146G>A,MODIFIER,YES,,,-1;DNAAF4-CCPG1,intron_variant,,ENST00000568310,,n.905+6937G>A,MODIFIER,,,,-1","T","ENSG00000256061","ENST00000321149","Transcript","missense_variant","missense_variant","1483/1993","1115/1263","372/420","R/H","cGt/cAt","rs974724008;COSV58247043",null,-1,"DNAAF4","HGNC","HGNC:21493","protein_coding","YES","CCDS10154.1","ENSP00000323275","Q8WXU2.171",null,"UPI000013E5B8","Q8WXU2-1","NM_130810.4","NM_130810.4","P1",null,"deleterious(0.02)","probably_damaging(1)","2024-09-10",null,"PROSITE_profiles:PS50293;PROSITE_profiles:PS50005;PANTHER:PTHR46492;Gene3D:1.25.40.10;SMART:SM00028;Superfamily:SSF48452",{"$nulls":19},"6.763249984942377e-06",0,0,0,0,0,0,0,0,0.000495049986056983,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TTCCACGTCGT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4055758","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TRIP4",9325,"BI","GRCh38","chr15",64394106,64394106,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.267del","p.Asp90MetfsTer4","p.D90Mfs*4","ENST00000261884","2024-02-13",49,43,6,53,null,null,"TRIP4,frameshift_variant,p.D90Mfs*4,ENST00000261884,NM_001321924.2&NM_016213.5,c.267del,HIGH,YES,,,1;TRIP4,non_coding_transcript_exon_variant,,ENST00000559565,,n.141del,MODIFIER,,,,1;TRIP4,non_coding_transcript_exon_variant,,ENST00000559833,,n.343del,MODIFIER,,,,1;TRIP4,non_coding_transcript_exon_variant,,ENST00000557834,,n.318del,MODIFIER,,,,1;TRIP4,downstream_gene_variant,,ENST00000558442,,,MODIFIER,,,,1;TRIP4,frameshift_variant,p.D90Mfs*4,ENST00000560567,,c.267del,HIGH,,,,1;TRIP4,frameshift_variant,p.D90Mfs*?,ENST00000560920,,c.267del,HIGH,,,,1;TRIP4,3_prime_UTR_variant,,ENST00000558820,,c.*74del,MODIFIER,,,,1;TRIP4,non_coding_transcript_exon_variant,,ENST00000561265,,n.416del,MODIFIER,,,,1","-","ENSG00000103671","ENST00000261884","Transcript","frameshift_variant","frameshift_variant","290/2013","262/1746","88/581","K/X","Aaa/aa",null,null,1,"TRIP4","HGNC","HGNC:12310","protein_coding","YES","CCDS10194.1","ENSP00000261884","Q15650.174",null,"UPI0000035D96",null,"NM_001321924.2;NM_016213.5","NM_016213.5","P1",{"$nulls":3},"2024-02-13",null,"PANTHER:PTHR12963:SF0;PANTHER:PTHR12963",{"$nulls":41},"HIGH",1,"deletion",1,5,null,1,"TGCTTCAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ADAMTSL3",57188,"BI","GRCh38","chr15",83983008,83983008,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3380A>G","p.Glu1127Gly","p.E1127G","ENST00000286744","21/30",78,72,6,87,null,null,"ADAMTSL3,missense_variant,p.E1127G,ENST00000286744,NM_207517.3,c.3380A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;ADAMTSL3,missense_variant,p.E1127G,ENST00000567476,NM_001301110.2,c.3380A>G,MODERATE,,deleterious(0.01),probably_damaging(0.979),1;ADAMTSL3,downstream_gene_variant,,ENST00000562296,,,MODIFIER,,,,1;ADAMTSL3,downstream_gene_variant,,ENST00000567716,,,MODIFIER,,,,1;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,,n.3595A>G,MODIFIER,,,,1","G","ENSG00000156218","ENST00000286744","Transcript","missense_variant","missense_variant","3567/7299","3380/5076","1127/1691","E/G","gAa/gGa","COSV99717277",null,1,"ADAMTSL3","HGNC","HGNC:14633","protein_coding","YES","CCDS10326.1","ENSP00000286744","P82987.131",null,"UPI00001615A5","P82987-1","NM_207517.3","NM_207517.3","P2",null,"deleterious(0.01)","probably_damaging(0.996)","21/30",null,"PANTHER:PTHR13723;PANTHER:PTHR13723:SF169",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGCCGAATTAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF205",7755,"BI","GRCh38","chr16",3118940,3118940,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.520G>A","p.Ala174Thr","p.A174T","ENST00000219091","2024-06-07",103,96,7,265,null,null,"ZNF205,missense_variant,p.A174T,ENST00000620094,NM_001278158.1,c.520G>A,MODERATE,YES,deleterious(0.03),benign(0.025),1;ZNF205,missense_variant,p.A174T,ENST00000382192,NM_003456.3,c.520G>A,MODERATE,,deleterious(0.03),benign(0.025),1;ZNF205,missense_variant,p.A174T,ENST00000219091,NM_001042428.2,c.520G>A,MODERATE,,deleterious(0.03),benign(0.025),1;ZNF205,missense_variant,p.A174T,ENST00000414351,,c.520G>A,MODERATE,,tolerated(0.14),benign(0.025),1;ZNF205,intron_variant,,ENST00000570935,,c.262-316G>A,MODIFIER,,,,1;ZNF205,downstream_gene_variant,,ENST00000444510,,,MODIFIER,,,,1;ZNF213-AS1,intron_variant,,ENST00000572691,,n.1093-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000575139,,n.467-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000576490,,n.834-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000653667,,n.1469-2421C>T,MODIFIER,YES,,,-1;ZNF213-AS1,intron_variant,,ENST00000657201,,n.1093-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000657996,,n.233-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000664624,,n.1093-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000668823,,n.1619-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000670666,,n.1619-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000673666,,n.1420-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,intron_variant,,ENST00000674022,,n.132-2421C>T,MODIFIER,,,,-1;ZNF213-AS1,downstream_gene_variant,,ENST00000668778,,,MODIFIER,,,,-1","A","ENSG00000122386","ENST00000219091","Transcript","missense_variant","missense_variant","631/1968","520/1665","174/554","A/T","Gcg/Acg","COSV54620110",null,1,"ZNF205","HGNC","HGNC:12996","protein_coding",null,"CCDS10494.2","ENSP00000219091","O95201.170",null,"UPI00000437F2",null,"NM_001042428.2","NM_001042428.2","P1",null,"deleterious(0.03)","benign(0.025)","2024-06-07",null,"PROSITE_profiles:PS50805;PANTHER:PTHR23226;PANTHER:PTHR23226:SF77;SMART:SM00349;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"CTCAAGCGCAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4060525","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TFAP4",7023,"BI","GRCh38","chr16",4262612,4262612,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.179G>A","p.Arg60His","p.R60H","ENST00000204517","2024-02-07",132,120,12,204,null,null,"TFAP4,missense_variant,p.R60H,ENST00000204517,NM_003223.3,c.179G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;TFAP4,5_prime_UTR_variant,,ENST00000572393,,c.-2G>A,MODIFIER,,,,-1;TFAP4,synonymous_variant,p.T71=,ENST00000573476,,c.213G>A,LOW,,,,-1;TFAP4,non_coding_transcript_exon_variant,,ENST00000575320,,n.4576G>A,MODIFIER,,,,-1;TFAP4,non_coding_transcript_exon_variant,,ENST00000575300,,n.508G>A,MODIFIER,,,,-1;TFAP4,intron_variant,,ENST00000574639,,c.90-2017G>A,MODIFIER,,,,-1;TFAP4,upstream_gene_variant,,ENST00000575672,,,MODIFIER,,,,-1","T","ENSG00000090447","ENST00000204517","Transcript","missense_variant","missense_variant","456/2163","179/1017","60/338","R/H","cGc/cAc","COSV52596985",null,-1,"TFAP4","HGNC","HGNC:11745","protein_coding","YES","CCDS10510.1","ENSP00000204517","Q01664.188",null,"UPI00001368DA",null,"NM_003223.3","NM_003223.3","P1",null,"deleterious(0)","probably_damaging(0.995)","2024-02-07",null,"PROSITE_profiles:PS50888;CDD:cd00083;PANTHER:PTHR15741;PANTHER:PTHR15741:SF27;Gene3D:4.10.280.10;Pfam:PF00010;SMART:SM00353;Superfamily:SSF47459",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCATGCGTCTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM241880","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ABCC1",4363,"BI","GRCh38","chr16",16007895,16007896,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.133dup","p.Tyr45LeufsTer17","p.Y45Lfs*17","ENST00000399410","2/31",103,94,8,167,null,null,"ABCC1,frameshift_variant,p.Y45Lfs*17,ENST00000399408,,c.133dup,HIGH,YES,,,1;ABCC1,frameshift_variant,p.Y45Lfs*17,ENST00000399410,NM_004996.4,c.133dup,HIGH,,,,1;ABCC1,frameshift_variant,p.Y45Lfs*17,ENST00000572882,,c.133dup,HIGH,,,,1;ABCC1,frameshift_variant,p.Y45Lfs*17,ENST00000677164,,c.133dup,HIGH,,,,1;ABCC1,non_coding_transcript_exon_variant,,ENST00000679043,,n.85dup,MODIFIER,,,,1;ABCC1,frameshift_variant,p.Y45Lfs*17,ENST00000678422,,c.133dup,HIGH,,,,1;ABCC1,non_coding_transcript_exon_variant,,ENST00000574224,,n.208dup,MODIFIER,,,,1","T","ENSG00000103222","ENST00000399410","Transcript","frameshift_variant","frameshift_variant","264-265/6504","128-129/4596","43/1531","C/CX","tgt/tgTt",null,null,1,"ABCC1","HGNC","HGNC:51","protein_coding",null,"CCDS42122.1","ENSP00000382342","P33527.207",null,"UPI00001FEEFC","P33527-1","NM_004996.4","NM_004996.4","P2",{"$nulls":3},"2/31",null,"PANTHER:PTHR24223;PANTHER:PTHR24223:SF241;TIGRFAM:TIGR00957;Transmembrane_helices:TMhelix",{"$nulls":41},"HIGH",null,"insertion",1,5,null,null,"GCCTTGTTTTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["REXO5",81691,"BI","GRCh38","chr16",20844674,20844674,"+","Missense_Mutation","SNP","G","G","A","rs897879878",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1765G>A","p.Val589Met","p.V589M","ENST00000261377","17/20",101,94,7,148,null,null,"REXO5,missense_variant,p.V589M,ENST00000261377,NM_001199053.2&NM_030941.3,c.1765G>A,MODERATE,YES,tolerated(0.08),benign(0.081),1;REXO5,missense_variant,p.V558M,ENST00000348433,NM_001144924.2,c.1672G>A,MODERATE,,tolerated(0.08),benign(0.155),1;REXO5,missense_variant,p.V589M,ENST00000564274,,c.1765G>A,MODERATE,,tolerated(0.08),benign(0.081),1;REXO5,missense_variant,p.V142M,ENST00000561474,,c.424G>A,MODERATE,,tolerated(0.07),benign(0.306),1;ERI2,intron_variant,,ENST00000564349,,c.-256-41004C>T,MODIFIER,,,,-1;REXO5,3_prime_UTR_variant,,ENST00000566993,,c.*1360G>A,MODIFIER,,,,1;REXO5,downstream_gene_variant,,ENST00000568334,,,MODIFIER,,,,1","A","ENSG00000005189","ENST00000261377","Transcript","missense_variant","missense_variant","1946/2691","1765/2325","589/774","V/M","Gtg/Atg","rs897879878;COSV54470934",null,1,"REXO5","HGNC","HGNC:24661","protein_coding","YES","CCDS10591.1","ENSP00000261377","Q96IC2.148","A0A024R390.36","UPI0000073454","Q96IC2-1","NM_001199053.2;NM_030941.3","NM_030941.3","P1",null,"tolerated(0.08)","benign(0.081)","17/20",null,"PANTHER:PTHR12801;PANTHER:PTHR12801:SF82;Superfamily:SSF54928",{"$nulls":8},"1.195e-05",0,"2.893e-05",0,"5.438e-05",0,0,0,"3.266e-05","5.438e-05","gnomAD_EAS","6.7599498834169935e-06",0,0,0,0,0.00020145000598859,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCCTCGTGAAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4059016","N","Unknown",{"$nulls":3},"muse;mutect2"]
["POLR3E",55718,"BI","GRCh38","chr16",22308157,22308157,"+","Missense_Mutation","SNP","C","C","T","rs371107234",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.97C>T","p.Arg33Cys","p.R33C","ENST00000299853","2024-04-21",55,48,7,137,null,null,"POLR3E,missense_variant,p.R33C,ENST00000299853,NM_018119.4,c.97C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.458),1;POLR3E,missense_variant,p.R33C,ENST00000359210,NM_001258036.2,c.97C>T,MODERATE,,deleterious(0),probably_damaging(1),1;POLR3E,missense_variant,p.R33C,ENST00000564209,NM_001258033.2,c.97C>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;POLR3E,missense_variant,p.R39C,ENST00000565358,,c.115C>T,MODERATE,,deleterious(0),possibly_damaging(0.749),1;POLR3E,missense_variant,p.R33C,ENST00000564883,,c.97C>T,MODERATE,,deleterious(0),possibly_damaging(0.458),1;POLR3E,5_prime_UTR_variant,,ENST00000615879,NM_001258035.1,c.-12C>T,MODIFIER,,,,1;POLR3E,5_prime_UTR_variant,,ENST00000563024,,c.-12C>T,MODIFIER,,,,1;POLR3E,intron_variant,,ENST00000418581,NM_001258034.2,c.37-48C>T,MODIFIER,,,,1;POLR3E,non_coding_transcript_exon_variant,,ENST00000564256,,n.92C>T,MODIFIER,,,,1;POLR3E,missense_variant,p.R33C,ENST00000564750,,c.97C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;POLR3E,3_prime_UTR_variant,,ENST00000561494,,c.*24C>T,MODIFIER,,,,1;POLR3E,non_coding_transcript_exon_variant,,ENST00000564061,,n.218C>T,MODIFIER,,,,1;POLR3E,non_coding_transcript_exon_variant,,ENST00000563766,,n.596C>T,MODIFIER,,,,1;POLR3E,non_coding_transcript_exon_variant,,ENST00000567022,,n.260C>T,MODIFIER,,,,1;POLR3E,upstream_gene_variant,,ENST00000565551,,,MODIFIER,,,,1","T","ENSG00000058600","ENST00000299853","Transcript","missense_variant","missense_variant","264/3690","97/2127","33/708","R/C","Cgt/Tgt","rs371107234",null,1,"POLR3E","HGNC","HGNC:30347","protein_coding","YES","CCDS10605.1","ENSP00000299853","Q9NVU0.162",null,"UPI000006D8F8","Q9NVU0-1","NM_018119.4","NM_018119.4","P1",null,"deleterious(0)","possibly_damaging(0.458)","2024-04-21",null,"PANTHER:PTHR12069;Pfam:PF04801",{"$nulls":6},2.276E-4,0,"1.591e-05",0,"2.891e-05",0,0,0,"2.638e-05",0,0,2.276E-4,"AA",{"$nulls":22},"MODERATE",1,"SNV",1,{"$nulls":3},"CTGTGCGTCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4059276","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRIM72",493829,"BI","GRCh38","chr16",31222930,31222930,"+","Missense_Mutation","SNP","C","C","T","rs887056269",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.844C>T","p.Arg282Trp","p.R282W","ENST00000322122","2024-06-07",117,86,30,194,null,null,"TRIM72,missense_variant,p.R282W,ENST00000322122,NM_001008274.4,c.844C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.851),1;TRIM72,intron_variant,,ENST00000613872,,c.803+41C>T,MODIFIER,,,,1","T","ENSG00000177238","ENST00000322122","Transcript","missense_variant","missense_variant","1030/8402","844/1434","282/477","R/W","Cgg/Tgg","rs887056269;COSV59066868",null,1,"TRIM72","HGNC","HGNC:32671","protein_coding","YES","CCDS32437.1","ENSP00000312675","Q6ZMU5.142",null,"UPI00001FFF74","Q6ZMU5-1","NM_001008274.4","NM_001008274.4","P1",null,"deleterious(0)","possibly_damaging(0.851)","2024-06-07",null,"PDB-ENSP_mappings:3kb5.A;CDD:cd13742;Gene3D:2.60.120.920;Superfamily:SSF49899;PROSITE_profiles:PS50188;PANTHER:PTHR24103:SF11;PANTHER:PTHR24103",{"$nulls":8},"1.387e-05",0,"3.67e-05",0,0,0,"1.99e-05",0,0,"3.67e-05","gnomAD_AMR","2.7086000045528635e-05","2.4384300559177063e-05",0,1.32872999529354E-4,0,0,0,0,"1.5439200069522485e-05",0,0,1.32872999529354E-4,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",2,null,"0;1",null,"TGTTCCGGGCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4060421;COSM4060422","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CES5A",221223,"BI","GRCh38","chr16",55869674,55869674,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.488C>A","p.Ala163Asp","p.A163D","ENST00000290567","2024-04-13",27,21,6,27,null,null,"CES5A,missense_variant,p.A192D,ENST00000521992,NM_001190158.1,c.575C>A,MODERATE,YES,deleterious(0),probably_damaging(0.961),-1;CES5A,missense_variant,p.A163D,ENST00000290567,NM_001143685.2,c.488C>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;CES5A,missense_variant,p.A57D,ENST00000518005,,c.170C>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;CES5A,missense_variant,p.A163D,ENST00000319165,NM_145024.3,c.488C>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CES5A,missense_variant,p.A133D,ENST00000520435,,c.398C>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;CES5A,missense_variant,p.A57D,ENST00000536025,,c.170C>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;CES5A,intron_variant,,ENST00000541580,,c.49-6222C>A,MODIFIER,,,,-1;CES5A,non_coding_transcript_exon_variant,,ENST00000544479,,n.98C>A,MODIFIER,,,,-1;CES5A,missense_variant,p.A57D,ENST00000521228,,c.170C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.961),-1","T","ENSG00000159398","ENST00000290567","Transcript","missense_variant","missense_variant","640/2177","488/1728","163/575","A/D","gCt/gAt","COSV51864185",null,-1,"CES5A","HGNC","HGNC:26459","protein_coding",null,"CCDS45490.1","ENSP00000290567","Q6NT32.130",null,"UPI000035CC44","Q6NT32-1","NM_001143685.2","NM_001143685.2","P4",null,"deleterious(0)","probably_damaging(0.961)","2024-04-13",null,"CDD:cd00312;PANTHER:PTHR11559:SF43;PANTHER:PTHR11559;Gene3D:3.40.50.1820;Pfam:PF00135;Superfamily:SSF53474",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AGGCAGCCAGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4061320;COSM4061321","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC9A5",6553,"BI","GRCh38","chr16",67257040,67257040,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1262G>T","p.Arg421Met","p.R421M","ENST00000299798","2024-07-16",150,134,16,218,null,null,"SLC9A5,missense_variant,p.R421M,ENST00000299798,NM_004594.3&NM_001323973.2&NM_001323971.2&NM_001323975.2&NM_001323974.2&NM_001323972.2,c.1262G>T,MODERATE,YES,deleterious(0.02),benign(0.361),1;SLC9A5,intron_variant,,ENST00000566345,,c.329-2558G>T,MODIFIER,,,,1;SLC9A5,intron_variant,,ENST00000566626,,c.200+1856G>T,MODIFIER,,,,1;SLC9A5,intron_variant,,ENST00000567247,,c.110-2558G>T,MODIFIER,,,,1;SLC9A5,downstream_gene_variant,,ENST00000561472,,,MODIFIER,,,,1;SLC9A5,3_prime_UTR_variant,,ENST00000564812,,c.*595G>T,MODIFIER,,,,1;SLC9A5,non_coding_transcript_exon_variant,,ENST00000564704,,n.2130G>T,MODIFIER,,,,1;SLC9A5,non_coding_transcript_exon_variant,,ENST00000563723,,n.1581G>T,MODIFIER,,,,1;SLC9A5,intron_variant,,ENST00000566638,,n.427+4196G>T,MODIFIER,,,,1;AC040160.1,upstream_gene_variant,,ENST00000573063,,,MODIFIER,YES,,,1","T","ENSG00000135740","ENST00000299798","Transcript","missense_variant","missense_variant","1298/3708","1262/2691","421/896","R/M","aGg/aTg","COSV55360746",null,1,"SLC9A5","HGNC","HGNC:11078","protein_coding","YES","CCDS42178.1","ENSP00000299798","Q14940.158",null,"UPI000012FD2D",null,"NM_004594.3;NM_001323973.2;NM_001323971.2;NM_001323975.2;NM_001323974.2;NM_001323972.2","NM_004594.3","P1",null,"deleterious(0.02)","benign(0.361)","2024-07-16",null,"PANTHER:PTHR10110;PANTHER:PTHR10110:SF56;TIGRFAM:TIGR00840;Pfam:PF00999",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGATAGGACCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4061813","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC7A5",8140,"BI","GRCh38","chr16",87836602,87836602,"+","Missense_Mutation","SNP","C","C","T","rs149119495",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1186G>A","p.Val396Ile","p.V396I","ENST00000261622","2024-08-10",38,34,4,78,null,null,"SLC7A5,missense_variant,p.V396I,ENST00000261622,NM_003486.7,c.1186G>A,MODERATE,YES,deleterious(0.03),benign(0.015),-1;SLC7A5,missense_variant,p.V130I,ENST00000565644,,c.388G>A,MODERATE,,deleterious(0.05),benign(0.015),-1;MIR6775,upstream_gene_variant,,ENST00000617557,,,MODIFIER,YES,,,-1;SLC7A5,non_coding_transcript_exon_variant,,ENST00000563489,,n.204G>A,MODIFIER,,,,-1;AC126696.2,non_coding_transcript_exon_variant,,ENST00000563687,,n.71C>T,MODIFIER,YES,,,1","T","ENSG00000103257","ENST00000261622","Transcript","missense_variant","missense_variant","1271/4556","1186/1524","396/507","V/I","Gtc/Atc","rs149119495",null,-1,"SLC7A5","HGNC","HGNC:11063","protein_coding","YES","CCDS10964.1","ENSP00000261622","Q01650.202",null,"UPI000000D9ED",null,"NM_003486.7","NM_003486.7","P1",null,"deleterious(0.03)","benign(0.015)","2024-08-10",null,"PDB-ENSP_mappings:6irs.B;PDB-ENSP_mappings:6irt.B;PDB-ENSP_mappings:6jmq.A;Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR11785;PANTHER:PTHR11785:SF515;Gene3D:1.20.1740.10;Pfam:PF13520;TIGRFAM:TIGR00911;PIRSF:PIRSF006060",{"$nulls":6},0.001365,0,0.0001478,0.00105,0.0002025,0,0,"4.721e-05","9.713e-05",0,"3.266e-05",0.001365,"AA",0.000283853005385026,0.000899236998520791,0,1.98912995983846E-4,0,0,0,0,"3.085939897573553e-05",0,0,0.000899236998520791,"afr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"GATGACGGAGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4063452","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MC1R",4157,"BI","GRCh38","chr16",89919869,89919869,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.611C>T","p.Ala204Val","p.A204V","ENST00000555147","2024-01-01",48,41,7,46,null,null,"MC1R,missense_variant,p.A204V,ENST00000555427,,c.611C>T,MODERATE,YES,tolerated(0.28),benign(0.108),1;AC092143.1,missense_variant,p.A204V,ENST00000556922,,c.611C>T,MODERATE,YES,tolerated_low_confidence(0.4),benign(0.006),1;MC1R,missense_variant,p.A204V,ENST00000639847,,c.611C>T,MODERATE,,tolerated(0.26),benign(0.075),1;MC1R,missense_variant,p.A204V,ENST00000555147,NM_002386.4,c.611C>T,MODERATE,,tolerated(0.26),benign(0.075),1;TUBB3,upstream_gene_variant,,ENST00000315491,NM_006086.4,,MODIFIER,YES,,,1;TUBB3,upstream_gene_variant,,ENST00000553967,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000554336,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000554444,NM_001197181.2,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000555576,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000555810,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000556565,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000625617,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000554116,,,MODIFIER,,,,1;MC1R,downstream_gene_variant,,ENST00000539976,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000553656,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000554927,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000555609,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000556536,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000557262,,,MODIFIER,,,,1;TUBB3,upstream_gene_variant,,ENST00000557490,,,MODIFIER,,,,1;AC092143.3,downstream_gene_variant,,ENST00000570217,,,MODIFIER,YES,,,1;AC092143.2,non_coding_transcript_exon_variant,,ENST00000554623,,n.943G>A,MODIFIER,YES,,,-1","T","ENSG00000258839","ENST00000555147","Transcript","missense_variant","missense_variant","1008/2111","611/954","204/317","A/V","gCc/gTc","COSV59624624;COSV59625806",null,1,"MC1R","HGNC","HGNC:6929","protein_coding",null,"CCDS56011.1","ENSP00000451605","Q01726.203","Q1JUL4.130","UPI00000622C3",null,"NM_002386.4","NM_002386.4","P1",null,"tolerated(0.26)","benign(0.075)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF00001;Prints:PR00237;PROSITE_profiles:PS50262;PANTHER:PTHR22750;PANTHER:PTHR22750:SF2;SMART:SM01381;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15351;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"1;1",1,"CATGGCCGTGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4063683","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["USP6",9098,"BI","GRCh38","chr17",5145562,5145562,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2150T>C","p.Met717Thr","p.M717T","ENST00000250066","19/30",71,63,8,136,null,null,"USP6,missense_variant,p.M717T,ENST00000574788,NM_001304284.2,c.2150T>C,MODERATE,YES,tolerated_low_confidence(0.4),possibly_damaging(0.801),1;USP6,missense_variant,p.M717T,ENST00000250066,NM_004505.4,c.2150T>C,MODERATE,,tolerated_low_confidence(0.4),possibly_damaging(0.801),1;USP6,missense_variant,p.M717T,ENST00000572949,,c.2150T>C,MODERATE,,tolerated_low_confidence(0.34),benign(0.025),1;USP6,3_prime_UTR_variant,,ENST00000575709,,c.*1230T>C,MODIFIER,,,,1","C","ENSG00000129204","ENST00000250066","Transcript","missense_variant","missense_variant","3849/7976","2150/4221","717/1406","M/T","aTg/aCg","COSV51476694",null,1,"USP6","HGNC","HGNC:12629","protein_coding",null,"CCDS11069.2","ENSP00000250066","P35125.168",null,"UPI000006226F","P35125-1","NM_004505.4",null,"P1",null,"tolerated_low_confidence(0.4)","possibly_damaging(0.801)","19/30",null,"Gene3D:3.90.70.10;Pfam:PF00443;PROSITE_profiles:PS50235;PANTHER:PTHR21646;PANTHER:PTHR21646:SF26;Superfamily:SSF54001",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TTACATGGACT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4067886;COSM4067887;COSM4067888","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH9",1770,"BI","GRCh38","chr17",11902773,11902773,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.11461G>T","p.Ala3821Ser","p.A3821S","ENST00000262442","60/69",98,76,21,161,null,null,"DNAH9,missense_variant,p.A3821S,ENST00000262442,NM_001372.4,c.11461G>T,MODERATE,YES,tolerated(0.15),benign(0.284),1;DNAH9,missense_variant,p.A3821S,ENST00000454412,,c.11461G>T,MODERATE,,tolerated(0.15),benign(0.393),1;DNAH9,missense_variant,p.A133S,ENST00000608377,NM_004662.2,c.397G>T,MODERATE,,tolerated_low_confidence(0.11),benign(0.284),1;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,,n.924G>T,MODIFIER,,,,1;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,,n.742G>T,MODIFIER,,,,1","T","ENSG00000007174","ENST00000262442","Transcript","missense_variant","missense_variant","11490/13711","11461/13461","3821/4486","A/S","Gct/Tct","COSV52338378",null,1,"DNAH9","HGNC","HGNC:2953","protein_coding","YES","CCDS11160.1","ENSP00000262442","Q9NYC9.164",null,"UPI0000141BA2","Q9NYC9-1","NM_001372.4","NM_001372.4","P1",null,"tolerated(0.15)","benign(0.284)","60/69",null,"PANTHER:PTHR10676;PANTHER:PTHR10676:SF257",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GATCTGCTAAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1380903","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FLOT2",2319,"BI","GRCh38","chr17",28884254,28884254,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.193del","p.Val65Ter","p.V65*","ENST00000394908","2024-03-11",69,61,8,157,null,null,"FLOT2,frameshift_variant,p.V120*,ENST00000394906,,c.358del,HIGH,YES,,,-1;FLOT2,frameshift_variant,p.V65*,ENST00000394908,NM_004475.3,c.193del,HIGH,,,,-1;FLOT2,intron_variant,,ENST00000465427,,c.92-1023del,MODIFIER,,,,-1;FLOT2,intron_variant,,ENST00000585169,NM_001330170.2,c.223-1023del,MODIFIER,,,,-1;FLOT2,intron_variant,,ENST00000577789,,n.219-1023del,MODIFIER,,,,-1;FLOT2,upstream_gene_variant,,ENST00000584569,,,MODIFIER,,,,-1;FLOT2,frameshift_variant,p.G95Vfs*365,ENST00000580805,,c.284del,HIGH,,,,-1;FLOT2,non_coding_transcript_exon_variant,,ENST00000580313,,n.217del,MODIFIER,,,,-1;FLOT2,non_coding_transcript_exon_variant,,ENST00000581509,,n.144del,MODIFIER,,,,-1;FLOT2,intron_variant,,ENST00000582174,,n.212-1023del,MODIFIER,,,,-1;FLOT2,intron_variant,,ENST00000586827,,c.132-1563del,MODIFIER,,,,-1;FLOT2,intron_variant,,ENST00000593158,,n.100-1517del,MODIFIER,,,,-1","-","ENSG00000132589","ENST00000394908","Transcript","frameshift_variant","frameshift_variant","352/2668","193/1287","65/428","V/X","Gta/ta",null,null,-1,"FLOT2","HGNC","HGNC:3758","protein_coding",null,"CCDS11245.2","ENSP00000378368","Q14254.172","A0A024QZ62.47","UPI00001AE777",null,"NM_004475.3","NM_004475.3","P3",{"$nulls":3},"2024-03-11",null,"Gene3D:3.30.479.30;Pfam:PF01145;PANTHER:PTHR13806;PANTHER:PTHR13806:SF39;Superfamily:SSF117892;CDD:cd03399",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"AAGCTACCCCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SSH2",85464,"BI","GRCh38","chr17",29632090,29632090,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3023G>A","p.Arg1008Lys","p.R1008K","ENST00000269033","15/15",105,74,31,135,null,null,"SSH2,missense_variant,p.R1035K,ENST00000540801,NM_001282129.2,c.3104G>A,MODERATE,YES,tolerated_low_confidence(0.27),benign(0.007),-1;SSH2,missense_variant,p.R1008K,ENST00000269033,NM_033389.3,c.3023G>A,MODERATE,,tolerated_low_confidence(0.28),benign(0.003),-1;SSH2,missense_variant,p.R1014K,ENST00000649863,,c.3041G>A,MODERATE,,tolerated_low_confidence(0.28),benign(0.003),-1;SSH2,upstream_gene_variant,,ENST00000577991,,,MODIFIER,,,,-1;ABHD15-AS1,intron_variant,,ENST00000581474,,n.153+71391C>T,MODIFIER,YES,,,1","T","ENSG00000141298","ENST00000269033","Transcript","missense_variant","missense_variant","3175/9327","3023/4272","1008/1423","R/K","aGg/aAg","COSV52167661",null,-1,"SSH2","HGNC","HGNC:30580","protein_coding",null,"CCDS11253.1","ENSP00000269033","Q76I76.150",null,"UPI00001D6272","Q76I76-1","NM_033389.3",null,"P4",null,"tolerated_low_confidence(0.28)","benign(0.003)","15/15",null,"PANTHER:PTHR45864;PANTHER:PTHR45864:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CTACCCTCTTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4065218","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLFN13",146857,"BI","GRCh38","chr17",35445133,35445133,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.548T>C","p.Ile183Thr","p.I183T","ENST00000285013","2024-03-06",184,176,7,275,null,null,"SLFN13,missense_variant,p.I183T,ENST00000285013,NM_144682.6,c.548T>C,MODERATE,YES,tolerated(0.42),benign(0.021),-1;SLFN13,missense_variant,p.I183T,ENST00000526861,,c.548T>C,MODERATE,,tolerated(0.42),benign(0.021),-1;SLFN13,missense_variant,p.I183T,ENST00000542635,,c.548T>C,MODERATE,,tolerated(0.42),benign(0.021),-1;SLFN13,missense_variant,p.I183T,ENST00000533791,,c.548T>C,MODERATE,,tolerated(0.42),benign(0.021),-1;SLFN13,intron_variant,,ENST00000532210,,c.-14-432T>C,MODIFIER,,,,-1;SLFN13,intron_variant,,ENST00000534689,,c.26-432T>C,MODIFIER,,,,-1;SLFN13,downstream_gene_variant,,ENST00000524511,,,MODIFIER,,,,-1;SLFN13,downstream_gene_variant,,ENST00000531588,,,MODIFIER,,,,-1;SLFN13,intron_variant,,ENST00000530782,,c.308+240T>C,MODIFIER,,,,-1;SLFN13,downstream_gene_variant,,ENST00000526483,,,MODIFIER,,,,-1;SLFN13,upstream_gene_variant,,ENST00000532774,,,MODIFIER,,,,-1","G","ENSG00000154760","ENST00000285013","Transcript","missense_variant","missense_variant","753/8398","548/2694","183/897","I/T","aTa/aCa","COSV99539771",null,-1,"SLFN13","HGNC","HGNC:26481","protein_coding","YES","CCDS32620.1","ENSP00000285013","Q68D06.121",null,"UPI000004E65A","Q68D06-1","NM_144682.6","NM_144682.6","P1",null,"tolerated(0.42)","benign(0.021)","2024-03-06",null,"PANTHER:PTHR12155;PANTHER:PTHR12155:SF21",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGATATGTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["PLXDC1",57125,"BI","GRCh38","chr17",39079145,39079145,"+","Missense_Mutation","SNP","G","G","A","rs370370043",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1009C>T","p.Arg337Cys","p.R337C","ENST00000315392","2024-10-14",81,73,8,120,null,null,"PLXDC1,missense_variant,p.R337C,ENST00000315392,NM_020405.5,c.1009C>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1;PLXDC1,missense_variant,p.R297C,ENST00000444911,,c.889C>T,MODERATE,,deleterious(0),possibly_damaging(0.873),-1;PLXDC1,missense_variant,p.R136C,ENST00000579279,,c.406C>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PLXDC1,non_coding_transcript_exon_variant,,ENST00000493200,,n.1400C>T,MODIFIER,,,,-1;RDM1P5,intron_variant,,ENST00000578423,,n.325+15599G>A,MODIFIER,,,,1;RDM1P5,intron_variant,,ENST00000583447,,n.658-659G>A,MODIFIER,YES,,,1;PLXDC1,3_prime_UTR_variant,,ENST00000578390,,c.*559C>T,MODIFIER,,,,-1;PLXDC1,non_coding_transcript_exon_variant,,ENST00000461225,,n.1524C>T,MODIFIER,,,,-1;PLXDC1,non_coding_transcript_exon_variant,,ENST00000394318,,n.1455C>T,MODIFIER,,,,-1;PLXDC1,non_coding_transcript_exon_variant,,ENST00000578517,,n.1401C>T,MODIFIER,,,,-1;PLXDC1,non_coding_transcript_exon_variant,,ENST00000582025,,n.126C>T,MODIFIER,,,,-1;PLXDC1,upstream_gene_variant,,ENST00000579417,,,MODIFIER,,,,-1","A","ENSG00000161381","ENST00000315392","Transcript","missense_variant","missense_variant","1209/6230","1009/1503","337/500","R/C","Cgc/Tgc","rs370370043",null,-1,"PLXDC1","HGNC","HGNC:20945","protein_coding","YES","CCDS11333.1","ENSP00000323927","Q8IUK5.125",null,"UPI0000049814","Q8IUK5-1","NM_020405.5","NM_020405.5","P1",null,"deleterious(0)","probably_damaging(0.993)","2024-10-14",null,"Pfam:PF01437;PANTHER:PTHR13055;PANTHER:PTHR13055:SF10",{"$nulls":6},0,0.0001163,"2.388e-05",0,1.156E-4,0,0,0,"8.798e-06",1.63E-4,0,1.63E-4,"gnomAD_OTH","2.0279599993955344e-05",0,0,0,0,0,0,0,"4.62948992208112e-05",0,0,"4.62948992208112e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"ATAGCGGTCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4065933","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CASC3",22794,"BI","GRCh38","chr17",40162137,40162137,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.592C>T","p.Gln198Ter","p.Q198*","ENST00000264645","2024-05-14",88,65,22,116,null,null,"CASC3,stop_gained,p.Q198*,ENST00000264645,NM_007359.5,c.592C>T,HIGH,YES,,,1;CASC3,downstream_gene_variant,,ENST00000584997,,,MODIFIER,,,,1;MIR6866,downstream_gene_variant,,ENST00000638146,,,MODIFIER,YES,,,1;CASC3,stop_gained,p.Q85*,ENST00000474190,,c.253C>T,HIGH,,,,1;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,,n.823C>T,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000577605,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000581849,,,MODIFIER,,,,1","T","ENSG00000108349","ENST00000264645","Transcript","stop_gained","stop_gained","604/3890","592/2112","198/703","Q/*","Cag/Tag","COSV52866436",null,1,"CASC3","HGNC","HGNC:17040","protein_coding","YES","CCDS11362.1","ENSP00000264645","O15234.187",null,"UPI000000DAAA",null,"NM_007359.5","NM_007359.5","P1",{"$nulls":3},"2024-05-14",null,"PDB-ENSP_mappings:2hyi.D;PDB-ENSP_mappings:2hyi.J;PDB-ENSP_mappings:2j0q.I;PDB-ENSP_mappings:2j0q.T;PDB-ENSP_mappings:2j0s.T;PDB-ENSP_mappings:2j0u.T;PDB-ENSP_mappings:2xb2.S;PDB-ENSP_mappings:2xb2.T;PDB-ENSP_mappings:3ex7.D;PDB-ENSP_mappings:3ex7.I;PDB-ENSP_mappings:5xjc.x;PDB-ENSP_mappings:5yzg.x;PDB-ENSP_mappings:6icz.x;Pfam:PF09405;PANTHER:PTHR13434;SMART:SM01044;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"AAACTCAGGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4066116","N","Unknown",{"$nulls":3},"muse;varscan2"]
["CASC3",22794,"BI","GRCh38","chr17",40162811,40162811,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.695C>T","p.Ser232Phe","p.S232F","ENST00000264645","2024-06-14",68,54,14,98,null,null,"CASC3,missense_variant,p.S232F,ENST00000264645,NM_007359.5,c.695C>T,MODERATE,YES,deleterious(0),probably_damaging(0.93),1;CASC3,downstream_gene_variant,,ENST00000584997,,,MODIFIER,,,,1;MIR6866,downstream_gene_variant,,ENST00000638146,,,MODIFIER,YES,,,1;CASC3,missense_variant,p.S119F,ENST00000474190,,c.356C>T,MODERATE,,deleterious(0),probably_damaging(0.952),1;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,,n.926C>T,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000577605,,,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000579238,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000581849,,,MODIFIER,,,,1","T","ENSG00000108349","ENST00000264645","Transcript","missense_variant","missense_variant","707/3890","695/2112","232/703","S/F","tCc/tTc","COSV52866441",null,1,"CASC3","HGNC","HGNC:17040","protein_coding","YES","CCDS11362.1","ENSP00000264645","O15234.187",null,"UPI000000DAAA",null,"NM_007359.5","NM_007359.5","P1",null,"deleterious(0)","probably_damaging(0.93)","2024-06-14",null,"PDB-ENSP_mappings:2hyi.D;PDB-ENSP_mappings:2hyi.J;PDB-ENSP_mappings:2j0q.I;PDB-ENSP_mappings:2j0q.T;PDB-ENSP_mappings:2j0s.T;PDB-ENSP_mappings:2j0u.T;PDB-ENSP_mappings:2xb2.S;PDB-ENSP_mappings:2xb2.T;PDB-ENSP_mappings:3ex7.D;PDB-ENSP_mappings:3ex7.I;PDB-ENSP_mappings:5xjc.x;PDB-ENSP_mappings:5yzg.x;PDB-ENSP_mappings:6icz.x;Pfam:PF09405;PANTHER:PTHR13434;SMART:SM01044;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAAGTCCCGAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4066117","N","Unknown",{"$nulls":3},"muse;varscan2"]
["CASC3",22794,"BI","GRCh38","chr17",40162864,40162864,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.748C>T","p.Pro250Ser","p.P250S","ENST00000264645","2024-06-14",75,60,15,126,null,null,"CASC3,missense_variant,p.P250S,ENST00000264645,NM_007359.5,c.748C>T,MODERATE,YES,tolerated(0.12),benign(0.031),1;CASC3,downstream_gene_variant,,ENST00000584997,,,MODIFIER,,,,1;MIR6866,downstream_gene_variant,,ENST00000638146,,,MODIFIER,YES,,,1;CASC3,missense_variant,p.P137S,ENST00000474190,,c.409C>T,MODERATE,,tolerated(0.09),possibly_damaging(0.668),1;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,,n.979C>T,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000577605,,,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000579238,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000581849,,,MODIFIER,,,,1","T","ENSG00000108349","ENST00000264645","Transcript","missense_variant","missense_variant","760/3890","748/2112","250/703","P/S","Cct/Tct","COSV52866452",null,1,"CASC3","HGNC","HGNC:17040","protein_coding","YES","CCDS11362.1","ENSP00000264645","O15234.187",null,"UPI000000DAAA",null,"NM_007359.5","NM_007359.5","P1",null,"tolerated(0.12)","benign(0.031)","2024-06-14",null,"PDB-ENSP_mappings:2j0q.I;PDB-ENSP_mappings:2j0q.T;PDB-ENSP_mappings:2j0s.T;PDB-ENSP_mappings:2j0u.T;PDB-ENSP_mappings:2xb2.S;PDB-ENSP_mappings:2xb2.T;PDB-ENSP_mappings:3ex7.D;PDB-ENSP_mappings:3ex7.I;PDB-ENSP_mappings:5xjc.x;PDB-ENSP_mappings:5yzg.x;PDB-ENSP_mappings:6icz.x;PANTHER:PTHR13434;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATAATCCTGAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4066118","N","Unknown",{"$nulls":3},"muse;varscan2"]
["CASC3",22794,"BI","GRCh38","chr17",40169331,40169331,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1973C>T","p.Ser658Leu","p.S658L","ENST00000264645","2024-12-14",198,166,31,266,null,null,"CASC3,missense_variant,p.S658L,ENST00000264645,NM_007359.5,c.1973C>T,MODERATE,YES,deleterious(0),benign(0.164),1;CASC3,non_coding_transcript_exon_variant,,ENST00000394114,,n.894C>T,MODIFIER,,,,1;CASC3,non_coding_transcript_exon_variant,,ENST00000583902,,n.509C>T,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000418132,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000474190,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000577605,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000579238,,,MODIFIER,,,,1","T","ENSG00000108349","ENST00000264645","Transcript","missense_variant","missense_variant","1985/3890","1973/2112","658/703","S/L","tCa/tTa","COSV52866516",null,1,"CASC3","HGNC","HGNC:17040","protein_coding","YES","CCDS11362.1","ENSP00000264645","O15234.187",null,"UPI000000DAAA",null,"NM_007359.5","NM_007359.5","P1",null,"deleterious(0)","benign(0.164)","2024-12-14",null,"PDB-ENSP_mappings:5xjc.x;PDB-ENSP_mappings:5yzg.x;PDB-ENSP_mappings:6icz.x;PANTHER:PTHR13434;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCCATCACAGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4066132","N","Unknown",{"$nulls":3},"muse;varscan2"]
["CDC6",990,"BI","GRCh38","chr17",40301980,40301980,"+","Missense_Mutation","SNP","C","C","G","rs542837328",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1662C>G","p.Ile554Met","p.I554M","ENST00000209728","2024-12-12",100,90,10,179,null,null,"CDC6,missense_variant,p.I554M,ENST00000209728,NM_001254.4,c.1662C>G,MODERATE,YES,deleterious(0),probably_damaging(0.947),1;CDC6,missense_variant,p.I554M,ENST00000649662,,c.1662C>G,MODERATE,,deleterious(0),probably_damaging(0.947),1;CDC6,downstream_gene_variant,,ENST00000648633,,,MODIFIER,,,,1","G","ENSG00000094804","ENST00000209728","Transcript","missense_variant","missense_variant","1887/4564","1662/1683","554/560","I/M","atC/atG","rs542837328;COSV52929911",null,1,"CDC6","HGNC","HGNC:1744","protein_coding","YES","CCDS11365.1","ENSP00000209728","Q99741.180","A0A024R1S2.55","UPI0000073C6C",null,"NM_001254.4","NM_001254.4","P1",null,"deleterious(0)","probably_damaging(0.947)","2024-12-12",null,"Gene3D:1.10.10.10;PIRSF:PIRSF001767;PANTHER:PTHR10763;PANTHER:PTHR10763:SF26;Superfamily:SSF46785",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"AATATCTTAGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4066160","N","Unknown",{"$nulls":3},"muse;varscan2"]
["XYLT2",64132,"BI","GRCh38","chr17",50357072,50357073,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1763dup","p.Leu588PhefsTer11","p.L588Ffs*11","ENST00000017003","2024-09-11",34,30,4,80,null,null,"XYLT2,frameshift_variant,p.L588Ffs*11,ENST00000017003,NM_022167.4,c.1763dup,HIGH,YES,,,1;XYLT2,frameshift_variant,p.L588Ffs*11,ENST00000507602,,c.1763dup,HIGH,,,,1;XYLT2,downstream_gene_variant,,ENST00000509778,,,MODIFIER,,,,1;XYLT2,upstream_gene_variant,,ENST00000574840,,,MODIFIER,,,,1;XYLT2,intron_variant,,ENST00000376550,,c.1745+301dup,MODIFIER,,,,1;XYLT2,intron_variant,,ENST00000511654,,c.342-44dup,MODIFIER,,,,1;XYLT2,upstream_gene_variant,,ENST00000571021,,,MODIFIER,,,,1","T","ENSG00000015532","ENST00000017003","Transcript","frameshift_variant","frameshift_variant","1776-1777/3507","1761-1762/2598","587-588/865","-/X","-/T",null,null,1,"XYLT2","HGNC","HGNC:15517","protein_coding","YES","CCDS11563.1","ENSP00000017003","Q9H1B5.148",null,"UPI000013C536","Q9H1B5-1","NM_022167.4","NM_022167.4","P1",{"$nulls":3},"2024-09-11",null,"Pfam:PF12529;PANTHER:PTHR46025;PANTHER:PTHR46025:SF1",{"$nulls":41},"HIGH",1,"insertion",1,2,null,1,"AGGGGCTTGCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["CACNA1G",8913,"BI","GRCh38","chr17",50624057,50624057,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.6211C>A","p.Leu2071Ile","p.L2071I","ENST00000359106","36/38",57,49,8,89,null,null,"CACNA1G,missense_variant,p.L2071I,ENST00000359106,NM_018896.5,c.6211C>A,MODERATE,YES,tolerated(0.24),benign(0.035),1;CACNA1G,missense_variant,p.L2037I,ENST00000354983,NM_198396.2,c.6109C>A,MODERATE,,tolerated(0.25),benign(0.335),1;CACNA1G,missense_variant,p.L1944I,ENST00000352832,NM_198387.3,c.5830C>A,MODERATE,,tolerated_low_confidence(0.31),benign(0.09),1;CACNA1G,missense_variant,p.L1955I,ENST00000360761,NM_198382.2,c.5863C>A,MODERATE,,tolerated_low_confidence(0.31),benign(0.155),1;CACNA1G,missense_variant,p.L1937I,ENST00000442258,NM_198388.3,c.5809C>A,MODERATE,,tolerated_low_confidence(0.31),possibly_damaging(0.519),1;CACNA1G,missense_variant,p.L1960I,ENST00000429973,NM_198386.3,c.5878C>A,MODERATE,,tolerated_low_confidence(0.28),possibly_damaging(0.759),1;CACNA1G,missense_variant,p.L2060I,ENST00000507336,NM_198377.3,c.6178C>A,MODERATE,,tolerated(0.24),benign(0.007),1;CACNA1G,missense_variant,p.L1944I,ENST00000358244,NM_198376.3,c.5830C>A,MODERATE,,tolerated_low_confidence(0.35),benign(0.007),1;CACNA1G,missense_variant,p.L2026I,ENST00000507510,NM_198385.3,c.6076C>A,MODERATE,,tolerated(0.24),benign(0.071),1;CACNA1G,missense_variant,p.L2015I,ENST00000515765,NM_198380.3,c.6043C>A,MODERATE,,tolerated(0.23),benign(0.104),1;CACNA1G,missense_variant,p.L2008I,ENST00000515411,NM_001256324.2,c.6022C>A,MODERATE,,tolerated(0.22),probably_damaging(0.983),1;CACNA1G,missense_variant,p.L2000I,ENST00000502264,NM_198383.3,c.5998C>A,MODERATE,,tolerated(0.19),benign(0.149),1;CACNA1G,missense_variant,p.L1992I,ENST00000510115,NM_198379.3,c.5974C>A,MODERATE,,tolerated(0.23),benign(0.045),1;CACNA1G,missense_variant,p.L1985I,ENST00000514079,NM_001256325.2,c.5953C>A,MODERATE,,tolerated(0.28),probably_damaging(0.983),1;CACNA1G,missense_variant,p.L1981I,ENST00000513689,NM_001256326.2,c.5941C>A,MODERATE,,tolerated(0.23),benign(0.103),1;CACNA1G,missense_variant,p.L1978I,ENST00000515165,NM_198384.3,c.5932C>A,MODERATE,,tolerated(0.28),benign(0.269),1;CACNA1G,missense_variant,p.L1971I,ENST00000507609,NM_001256327.2,c.5911C>A,MODERATE,,tolerated(0.3),probably_damaging(0.983),1;CACNA1G,missense_variant,p.L1967I,ENST00000512389,NM_198378.3,c.5899C>A,MODERATE,,tolerated_low_confidence(0.31),benign(0.171),1;CACNA1G,missense_variant,p.L1953I,ENST00000514181,NM_001256328.2,c.5857C>A,MODERATE,,tolerated(0.3),possibly_damaging(0.596),1;CACNA1G,missense_variant,p.L1944I,ENST00000503485,NM_001256359.2&NM_001256329.2,c.5830C>A,MODERATE,,tolerated(0.3),benign(0.194),1;CACNA1G,missense_variant,p.L1933I,ENST00000513964,NM_001256360.2&NM_001256361.2&NM_001256330.2,c.5797C>A,MODERATE,,tolerated(0.3),benign(0.171),1;CACNA1G,missense_variant,p.L1926I,ENST00000510366,NM_001256331.2,c.5776C>A,MODERATE,,tolerated(0.29),possibly_damaging(0.472),1;CACNA1G,missense_variant,p.L1921I,ENST00000514717,NM_001256332.2,c.5761C>A,MODERATE,,tolerated(0.33),probably_damaging(0.977),1;CACNA1G,missense_variant,p.L1978I,ENST00000505165,NM_001256333.2,c.5932C>A,MODERATE,,tolerated_low_confidence(0.35),benign(0.155),1;CACNA1G,missense_variant,p.L1967I,ENST00000507896,NM_001256334.2,c.5899C>A,MODERATE,,tolerated_low_confidence(0.34),benign(0.065),1;CACNA1G,3_prime_UTR_variant,,ENST00000506406,,c.*552C>A,MODIFIER,,,,1;CACNA1G,3_prime_UTR_variant,,ENST00000504076,,c.*552C>A,MODIFIER,,,,1;CACNA1G,3_prime_UTR_variant,,ENST00000511765,,c.*552C>A,MODIFIER,,,,1;CACNA1G,3_prime_UTR_variant,,ENST00000503436,,c.*552C>A,MODIFIER,,,,1;CACNA1G,3_prime_UTR_variant,,ENST00000511768,,c.*552C>A,MODIFIER,,,,1;CACNA1G,3_prime_UTR_variant,,ENST00000503607,,c.*552C>A,MODIFIER,,,,1;AC004590.1,downstream_gene_variant,,ENST00000502435,,,MODIFIER,YES,,,-1","A","ENSG00000006283","ENST00000359106","Transcript","missense_variant","missense_variant","6956/8602","6211/7134","2071/2377","L/I","Ctc/Atc","COSV61721240",null,1,"CACNA1G","HGNC","HGNC:1394","protein_coding","YES","CCDS45730.1","ENSP00000352011","O43497.176",null,"UPI000012727A","O43497-1","NM_018896.5","NM_018896.5","P4",null,"tolerated(0.24)","benign(0.035)","36/38",null,"PDB-ENSP_mappings:6kzo.A;PDB-ENSP_mappings:6kzp.A;PANTHER:PTHR10037;PANTHER:PTHR10037:SF192",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGGGGCTCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4067734;COSM4067735;COSM4067736","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DGKE",8526,"BI","GRCh38","chr17",56845809,56845809,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.744G>T","p.Gln248His","p.Q248H","ENST00000284061","2024-04-12",50,44,6,85,null,null,"DGKE,missense_variant,p.Q248H,ENST00000284061,NM_003647.3,c.744G>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;DGKE,missense_variant,p.Q192H,ENST00000572944,,c.576G>T,MODERATE,,deleterious(0),probably_damaging(0.987),1;DGKE,splice_region_variant,,ENST00000576869,,n.892G>T,LOW,,,,1;DGKE,non_coding_transcript_exon_variant,,ENST00000571084,,n.280G>T,MODIFIER,,,,1;TRIM25,intron_variant,,ENST00000648772,,c.*314-2019C>A,MODIFIER,,,,-1","T","ENSG00000153933","ENST00000284061","Transcript","missense_variant","missense_variant;splice_region_variant","872/8608","744/1704","248/567","Q/H","caG/caT","CM149474;COSV52349074",null,1,"DGKE","HGNC","HGNC:2852","protein_coding","YES","CCDS11590.1","ENSP00000284061","P52429.178","A1L4Q0.115","UPI000012DD1F","P52429-1","NM_003647.3","NM_003647.3","P1",null,"deleterious(0)","probably_damaging(0.994)","2024-04-12",null,"Pfam:PF00781;PROSITE_profiles:PS50146;PANTHER:PTHR11255;PANTHER:PTHR11255:SF45;SMART:SM00046;Superfamily:SSF111331",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"GTCCAGGTAAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4068023","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPX",8288,"BI","GRCh38","chr17",58195158,58195158,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.789C>A","p.Cys263Ter","p.C263*","ENST00000225371","2024-06-13",93,71,22,146,null,null,"EPX,stop_gained,p.C263*,ENST00000225371,NM_000502.6,c.789C>A,HIGH,YES,,,1","A","ENSG00000121053","ENST00000225371","Transcript","stop_gained","stop_gained","910/2719","789/2148","263/715","C/*","tgC/tgA","COSV56595317",null,1,"EPX","HGNC","HGNC:3423","protein_coding","YES","CCDS11602.1","ENSP00000225371","P11678.195",null,"UPI0000131629",null,"NM_000502.6","NM_000502.6","P1",{"$nulls":3},"2024-06-13",null,"Gene3D:1.10.640.10;Pfam:PF03098;PROSITE_profiles:PS50292;PANTHER:PTHR11475;PANTHER:PTHR11475:SF63;Superfamily:SSF48113",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",2,null,1,1,"CCCTGCTTTCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4068081","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RNF213",57674,"BI","GRCh38","chr17",80386811,80386811,"+","Missense_Mutation","SNP","G","G","A","rs375652626",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.14842G>A","p.Val4948Met","p.V4948M","ENST00000582970","63/68",57,49,8,87,null,null,"RNF213,missense_variant,p.V4948M,ENST00000582970,NM_001256071.3,c.14842G>A,MODERATE,,deleterious(0.02),benign(0.197),1;RNF213,missense_variant,p.V4997M,ENST00000508628,,c.14989G>A,MODERATE,YES,deleterious(0.02),benign(0.197),1;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,,n.956G>A,MODIFIER,,,,1;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,,n.3891G>A,MODIFIER,,,,1;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,,n.167G>A,MODIFIER,,,,1;RNF213,downstream_gene_variant,,ENST00000558116,,,MODIFIER,,,,1;RNF213,downstream_gene_variant,,ENST00000570776,,,MODIFIER,,,,1;RNF213,upstream_gene_variant,,ENST00000573919,,,MODIFIER,,,,1;RNF213-AS1,intron_variant,,ENST00000572151,,n.190+28118C>T,MODIFIER,,,,-1;RNF213-AS1,intron_variant,,ENST00000573394,,n.241-5526C>T,MODIFIER,,,,-1;RNF213-AS1,intron_variant,,ENST00000575034,,n.190+28118C>T,MODIFIER,YES,,,-1;RNF213-AS1,intron_variant,,ENST00000667202,,n.190-24603C>T,MODIFIER,,,,-1","A","ENSG00000173821","ENST00000582970","Transcript","missense_variant","missense_variant","14985/21055","14842/15624","4948/5207","V/M","Gtg/Atg","rs375652626",null,1,"RNF213","HGNC","HGNC:14539","protein_coding",null,"CCDS58606.1","ENSP00000464087",null,"A0A0A0MTR7.48","UPI00043788D6",null,"NM_001256071.3",null,"P4",null,"deleterious(0.02)","benign(0.197)","63/68",null,"PANTHER:PTHR22605;PANTHER:PTHR22605:SF18",{"$nulls":6},0.000227,0.0001163,"7.163e-05",0,0,0,"5.438e-05",3.235E-4,"8.802e-05",0,0,3.235E-4,"gnomAD_FIN","3.379250119905919e-05","2.4310800654347986e-05",0,0,0,0,0.000188288002391345,0,"3.086320066358894e-05",0,0,0.000188288002391345,"fin",{"$nulls":9},"MODERATE",null,"SNV",1,null,null,1,"AGACCGTGCAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4070510;COSM4070511","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPTOR",57521,"BI","GRCh38","chr17",80883871,80883871,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1741C>T","p.Leu581Phe","p.L581F","ENST00000306801","16/34",85,67,18,130,null,null,"RPTOR,missense_variant,p.L581F,ENST00000306801,NM_020761.3,c.1741C>T,MODERATE,YES,deleterious(0),probably_damaging(0.972),1;RPTOR,intron_variant,,ENST00000544334,NM_001163034.2,c.1510-7849C>T,MODIFIER,,,,1;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,,n.1228C>T,MODIFIER,,,,1;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,,n.2540C>T,MODIFIER,,,,1","T","ENSG00000141564","ENST00000306801","Transcript","missense_variant","missense_variant","2533/6838","1741/4008","581/1335","L/F","Ctc/Ttc","COSV60804458",null,1,"RPTOR","HGNC","HGNC:30287","protein_coding","YES","CCDS11773.1","ENSP00000307272","Q8N122.181",null,"UPI000007000F","Q8N122-1","NM_020761.3","NM_020761.3","P1",null,"deleterious(0)","probably_damaging(0.972)","16/34",null,"Gene3D:1.25.10.10;PDB-ENSP_mappings:5h64.B;PDB-ENSP_mappings:5h64.b;PDB-ENSP_mappings:6bcu.W;PDB-ENSP_mappings:6bcu.Y;PDB-ENSP_mappings:6bcx.W;PDB-ENSP_mappings:6bcx.Y;PDB-ENSP_mappings:6sb0.N;PDB-ENSP_mappings:6sb0.Y;PDB-ENSP_mappings:6sb2.N;PDB-ENSP_mappings:6sb2.Y;PDB-ENSP_mappings:6u62.A;PANTHER:PTHR12848;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTGCCTCGGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4070543","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FASN",2194,"BI","GRCh38","chr17",82086487,82086487,"+","Missense_Mutation","SNP","C","C","A","rs758283388",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3499G>T","p.Ala1167Ser","p.A1167S","ENST00000306749","22/43",42,32,10,89,null,null,"FASN,missense_variant,p.A1167S,ENST00000306749,NM_004104.5,c.3499G>T,MODERATE,YES,tolerated(0.51),benign(0.014),-1;FASN,missense_variant,p.A1167S,ENST00000634990,,c.3499G>T,MODERATE,,tolerated(0.53),possibly_damaging(0.516),-1;FASN,upstream_gene_variant,,ENST00000579410,,,MODIFIER,,,,-1","A","ENSG00000169710","ENST00000306749","Transcript","missense_variant","missense_variant","3622/8464","3499/7536","1167/2511","A/S","Gcc/Tcc","rs758283388;COSV60751360",null,-1,"FASN","HGNC","HGNC:3594","protein_coding","YES","CCDS11801.1","ENSP00000304592","P49327.223",null,"UPI000013EB82",null,"NM_004104.5","NM_004104.5","P1",null,"tolerated(0.51)","benign(0.014)","22/43",null,"Gene3D:3.40.50.150;PDB-ENSP_mappings:4piv.A;PDB-ENSP_mappings:4piv.B;PDB-ENSP_mappings:5c37.A;PDB-ENSP_mappings:5c37.C;PDB-ENSP_mappings:6nna.A;PDB-ENSP_mappings:6nna.B;PANTHER:PTHR43775;PANTHER:PTHR43775:SF7",{"$nulls":8},"4.059e-06",0,0,0,"5.466e-05",0,0,0,0,"5.466e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTGGGCCCCAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4070834","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC57",284001,"BI","GRCh38","chr17",82201595,82201595,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.350A>T","p.Gln117Leu","p.Q117L","ENST00000389641","2024-02-17",31,28,3,44,null,null,"CCDC57,missense_variant,p.Q117L,ENST00000665763,NM_001367828.2,c.350A>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.719),-1;CCDC57,missense_variant,p.Q117L,ENST00000392347,,c.350A>T,MODERATE,,deleterious(0.01),probably_damaging(0.919),-1;CCDC57,missense_variant,p.Q117L,ENST00000389641,NM_198082.4,c.350A>T,MODERATE,,deleterious(0.01),possibly_damaging(0.52),-1;CCDC57,missense_variant,p.Q117L,ENST00000392343,NM_001316321.3,c.350A>T,MODERATE,,deleterious(0.02),probably_damaging(0.996),-1;CCDC57,upstream_gene_variant,,ENST00000578910,,,MODIFIER,,,,-1;CCDC57,upstream_gene_variant,,ENST00000581625,,,MODIFIER,,,,-1","A","ENSG00000176155","ENST00000389641","Transcript","missense_variant","missense_variant","387/2997","350/2748","117/915","Q/L","cAg/cTg","COSV66433039",null,-1,"CCDC57","HGNC","HGNC:27564","protein_coding",null,null,"ENSP00000374292","Q2TAC2.118",null,"UPI0000D5BB0E","Q2TAC2-1","NM_198082.4",null,"A2",null,"deleterious(0.01)","possibly_damaging(0.52)","2024-02-17",null,"Low_complexity_(Seg):seg;Coiled-coils_(Ncoils):Coil;PANTHER:PTHR46725",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GCTGCTGCAGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4070871;COSM4070872","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TBCD",6904,"BI","GRCh38","chr17",82929227,82929227,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2812del","p.His938ThrfsTer20","p.H938Tfs*20","ENST00000355528","31/39",34,29,4,61,null,null,"TBCD,frameshift_variant,p.H938Tfs*20,ENST00000355528,NM_005993.5,c.2812del,HIGH,,,,1;TBCD,frameshift_variant,p.H938Tfs*20,ENST00000539345,,c.2812del,HIGH,YES,,,1;TBCD,frameshift_variant,p.H32Tfs*20,ENST00000577051,,c.94del,HIGH,,,,1;TBCD,downstream_gene_variant,,ENST00000574422,,,MODIFIER,,,,1;TBCD,downstream_gene_variant,,ENST00000574975,,,MODIFIER,,,,1;TBCD,downstream_gene_variant,,ENST00000576760,,,MODIFIER,,,,1;TBCD,downstream_gene_variant,,ENST00000571618,,,MODIFIER,,,,1;TBCD,upstream_gene_variant,,ENST00000576603,,,MODIFIER,,,,1;TBCD,non_coding_transcript_exon_variant,,ENST00000571796,,n.1470del,MODIFIER,,,,1;TBCD,non_coding_transcript_exon_variant,,ENST00000570679,,n.661del,MODIFIER,,,,1;TBCD,upstream_gene_variant,,ENST00000573364,,,MODIFIER,,,,1;TBCD,downstream_gene_variant,,ENST00000574818,,,MODIFIER,,,,1;TBCD,downstream_gene_variant,,ENST00000574886,,,MODIFIER,,,,1;TBCD,upstream_gene_variant,,ENST00000575132,,,MODIFIER,,,,1;TBCD,upstream_gene_variant,,ENST00000576677,,,MODIFIER,,,,1","-","ENSG00000141556","ENST00000355528","Transcript","frameshift_variant","frameshift_variant","2937/7159","2808/3579","936/1192","I/X","atC/at",null,null,1,"TBCD","HGNC","HGNC:11581","protein_coding",null,"CCDS45818.1","ENSP00000347719","Q9BTW9.162",null,"UPI000020053F","Q9BTW9-1","NM_005993.5","NM_005993.5","P2",{"$nulls":3},"31/39",null,"PANTHER:PTHR12658;Pfam:PF12612;Superfamily:SSF48371",{"$nulls":41},"HIGH",null,"deletion",1,4,null,1,"TCCCATCCCCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FHOD3",80206,"BI","GRCh38","chr18",36625553,36625553,"+","Frame_Shift_Del","DEL","C","C","-","rs777980924",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1005del","p.Ser336ValfsTer138","p.S336Vfs*138","ENST00000359247","2024-10-24",67,61,6,80,null,null,"FHOD3,frameshift_variant,p.S336Vfs*138,ENST00000257209,NM_025135.5,c.1005del,HIGH,,,,1;FHOD3,frameshift_variant,p.S336Vfs*171,ENST00000590592,NM_001281740.3,c.1005del,HIGH,YES,,,1;FHOD3,frameshift_variant,p.S336Vfs*138,ENST00000359247,NM_001281739.3,c.1005del,HIGH,,,,1;FHOD3,frameshift_variant,p.S135Vfs*100,ENST00000592930,,c.400del,HIGH,,,,1;FHOD3,frameshift_variant,p.P10Qfs*63,ENST00000591635,,c.29del,HIGH,,,,1;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,,n.1124del,MODIFIER,,,,1","-","ENSG00000134775","ENST00000359247","Transcript","frameshift_variant","frameshift_variant","1000/4518","1000/4269","334/1422","P/X","Ccc/cc","rs777980924",null,1,"FHOD3","HGNC","HGNC:26178","protein_coding",null,"CCDS62419.1","ENSP00000352186","Q2V2M9.123",null,"UPI0000EE543D","Q2V2M9-1","NM_001281739.3",null,"A2",{"$nulls":3},"2024-10-24",null,"PROSITE_profiles:PS51232;PANTHER:PTHR45920;PANTHER:PTHR45920:SF3;Superfamily:SSF48371;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"3.774e-05",0,"4.355e-05",0,"7.403e-05",0,"3.42e-05",0,1.027E-4,1.027E-4,"gnomAD_SAS",{"$nulls":22},"HIGH",null,"deletion",1,5,null,null,"GAGCCACCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM169982","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["EPG5",57724,"BI","GRCh38","chr18",45879178,45879178,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.5704del","p.Tyr1902IlefsTer26","p.Y1902Ifs*26","ENST00000282041","33/44",100,88,11,179,null,null,"EPG5,frameshift_variant,p.Y1902Ifs*26,ENST00000282041,NM_020964.3,c.5704del,HIGH,YES,,,-1;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,,n.2483del,MODIFIER,,,,-1;EPG5,frameshift_variant,p.Y777Ifs*26,ENST00000592272,,c.2329del,HIGH,,,,-1;EPG5,3_prime_UTR_variant,,ENST00000587884,,c.*1444del,MODIFIER,,,,-1;EPG5,3_prime_UTR_variant,,ENST00000590884,,c.*299del,MODIFIER,,,,-1","-","ENSG00000152223","ENST00000282041","Transcript","frameshift_variant","frameshift_variant","5794/12688","5704/7740","1902/2579","Y/X","Tat/at",null,null,-1,"EPG5","HGNC","HGNC:29331","protein_coding","YES","CCDS11926.2","ENSP00000282041","Q9HCE0.120",null,"UPI00004F6F8A","Q9HCE0-1","NM_020964.3","NM_020964.3","P1",{"$nulls":3},"33/44",null,"PANTHER:PTHR31139;PANTHER:PTHR31139:SF4",{"$nulls":41},"HIGH",1,"deletion",1,null,null,1,"GCTTATAAAAAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1388765","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DSEL",92126,"BI","GRCh38","chr18",67512486,67512486,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2153T>C","p.Val718Ala","p.V718A","ENST00000310045","2024-02-02",77,48,29,87,null,null,"DSEL,missense_variant,p.V718A,ENST00000310045,NM_032160.3,c.2153T>C,MODERATE,YES,tolerated(0.12),benign(0.325),-1;AC110597.3,non_coding_transcript_exon_variant,,ENST00000583493,,n.1745A>G,MODIFIER,YES,,,1;AC110597.3,downstream_gene_variant,,ENST00000581951,,,MODIFIER,,,,1;AC114689.3,upstream_gene_variant,,ENST00000583687,,,MODIFIER,YES,,,1","G","ENSG00000171451","ENST00000310045","Transcript","missense_variant","missense_variant","3367/9266","2153/3669","718/1222","V/A","gTc/gCc","COSV59489905",null,-1,"DSEL","HGNC","HGNC:18144","protein_coding","YES","CCDS11995.1","ENSP00000310565","Q8IZU8.116",null,"UPI00000740A1",null,"NM_032160.3",null,"P1",null,"tolerated(0.12)","benign(0.325)","2024-02-02",null,"PANTHER:PTHR15532;PANTHER:PTHR15532:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"TATTGACATTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4073025","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF236",7776,"BI","GRCh38","chr18",76908398,76908398,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2370G>A","p.Met790Ile","p.M790I","ENST00000253159","14/31",160,152,7,202,null,null,"ZNF236,missense_variant,p.M792I,ENST00000320610,NM_001306089.2,c.2376G>A,MODERATE,YES,tolerated(0.68),benign(0),1;ZNF236,missense_variant,p.M790I,ENST00000253159,NM_007345.4,c.2370G>A,MODERATE,,tolerated(0.72),benign(0),1;ZNF236,missense_variant,p.M790I,ENST00000543926,,c.2370G>A,MODERATE,,tolerated(0.79),benign(0),1","A","ENSG00000130856","ENST00000253159","Transcript","missense_variant","missense_variant","2568/8124","2370/5538","790/1845","M/I","atG/atA","COSV53483595",null,1,"ZNF236","HGNC","HGNC:13028","protein_coding",null,"CCDS42447.1","ENSP00000253159","Q9UL36.166",null,"UPI0000F6DCCB","Q9UL36-1","NM_007345.4",null,"A2",null,"tolerated(0.72)","benign(0)","14/31",null,"PANTHER:PTHR24396;PANTHER:PTHR24396:SF21",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AGCATGCAGGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4073368;COSM4073369","N","Unknown",{"$nulls":3},"muse;mutect2"]
["POLR2E",5434,"BI","GRCh38","chr19",1093982,1093982,"+","Missense_Mutation","SNP","G","G","A","rs1406420756",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.154C>T","p.Arg52Trp","p.R52W","ENST00000586746","2024-02-08",34,30,4,67,null,null,"POLR2E,missense_variant,p.R52W,ENST00000615234,NM_002695.5,c.154C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.809),-1;POLR2E,missense_variant,p.R52W,ENST00000612655,,c.154C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.809),-1;POLR2E,missense_variant,p.R52W,ENST00000586746,,c.154C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.809),-1;POLR2E,missense_variant,p.R52W,ENST00000619917,,c.154C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.54),-1;POLR2E,intron_variant,,ENST00000585838,NM_001316323.1&NM_001316324.1,c.3+1277C>T,MODIFIER,,,,-1;POLR2E,non_coding_transcript_exon_variant,,ENST00000614705,,n.193C>T,MODIFIER,,,,-1;POLR2E,missense_variant,p.R52W,ENST00000215587,,c.154C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.663),-1;POLR2E,non_coding_transcript_exon_variant,,ENST00000586817,,n.1394C>T,MODIFIER,,,,-1;POLR2E,non_coding_transcript_exon_variant,,ENST00000591709,,n.200C>T,MODIFIER,,,,-1;POLR2E,non_coding_transcript_exon_variant,,ENST00000592597,,n.188C>T,MODIFIER,,,,-1;POLR2E,intron_variant,,ENST00000589737,,c.57+1277C>T,MODIFIER,,,,-1;POLR2E,intron_variant,,ENST00000591767,,c.58-79C>T,MODIFIER,,,,-1;POLR2E,upstream_gene_variant,,ENST00000586215,,,MODIFIER,,,,-1;POLR2E,upstream_gene_variant,,ENST00000590060,,,MODIFIER,,,,-1","A","ENSG00000099817","ENST00000586746","Transcript","missense_variant","missense_variant","193/1096","154/633","52/210","R/W","Cgg/Tgg","rs1406420756;COSV53123485",null,-1,"POLR2E","HGNC","HGNC:9192","protein_coding",null,"CCDS12056.1","ENSP00000464739","P19388.209","E5KT65.75","UPI000013C68D",{"$nulls":3},"P1",null,"deleterious(0.01)","possibly_damaging(0.809)","2024-02-08",null,"PDB-ENSP_mappings:5iy6.E;PDB-ENSP_mappings:5iy7.E;PDB-ENSP_mappings:5iy8.E;PDB-ENSP_mappings:5iy9.E;PDB-ENSP_mappings:5iya.E;PDB-ENSP_mappings:5iyb.E;PDB-ENSP_mappings:5iyc.E;PDB-ENSP_mappings:5iyd.E;PDB-ENSP_mappings:6drd.E;PDB-ENSP_mappings:6o9l.E;PANTHER:PTHR10535:SF0;PANTHER:PTHR10535;Gene3D:3.40.1340.10;Pfam:PF03871;PIRSF:PIRSF000747;Superfamily:SSF53036",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","6.760500127711566e-06","2.4326200218638405e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",3,null,"0;1",null,"CGGCCGCCCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4073988","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C3",718,"BI","GRCh38","chr19",6707172,6707172,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2149G>A","p.Gly717Ser","p.G717S","ENST00000245907","17/41",42,35,7,80,null,null,"C3,missense_variant,p.G717S,ENST00000245907,NM_000064.4,c.2149G>A,MODERATE,YES,tolerated(0.17),benign(0.132),-1;C3,downstream_gene_variant,,ENST00000600763,,,MODIFIER,,,,-1;C3,upstream_gene_variant,,ENST00000602053,,,MODIFIER,,,,-1","T","ENSG00000125730","ENST00000245907","Transcript","missense_variant","missense_variant","2210/5231","2149/4992","717/1663","G/S","Ggc/Agc","COSV55568700;COSV55569909",null,-1,"C3","HGNC","HGNC:1318","protein_coding","YES","CCDS32883.1","ENSP00000245907","P01024.244","V9HWA9.51","UPI000013EC9B",null,"NM_000064.4","NM_000064.4","P1",null,"tolerated(0.17)","benign(0.132)","17/41",null,"Gene3D:1.20.91.20;PDB-ENSP_mappings:2a73.B;PDB-ENSP_mappings:4hw5.A;PDB-ENSP_mappings:4hw5.B;PDB-ENSP_mappings:4hwj.A;PDB-ENSP_mappings:4i6o.A;PDB-ENSP_mappings:6ru5.B;Pfam:PF01821;Prints:PR00004;PROSITE_patterns:PS01177;PROSITE_profiles:PS01178;PANTHER:PTHR11412;PANTHER:PTHR11412:SF81;SMART:SM00104;Superfamily:SSF47686;CDD:cd00017",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CTCGCCCAGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4082606","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO1F",4542,"BI","GRCh38","chr19",8555712,8555712,"+","Missense_Mutation","SNP","C","C","T","rs369105985",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.88G>A","p.Glu30Lys","p.E30K","ENST00000613525","2024-02-29",66,54,12,105,null,null,"MYO1F,missense_variant,p.E30K,ENST00000613525,,c.88G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;MYO1F,missense_variant,p.E30K,ENST00000644032,NM_001348355.2&NM_012335.4,c.88G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;MYO1F,missense_variant,p.E30K,ENST00000596675,,c.88G>A,MODERATE,,deleterious(0),probably_damaging(0.963),-1;MYO1F,missense_variant,p.E30K,ENST00000598321,,c.88G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.988),-1;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,,n.217G>A,MODIFIER,,,,-1;MYO1F,non_coding_transcript_exon_variant,,ENST00000594774,,n.217G>A,MODIFIER,,,,-1;MYO1F,non_coding_transcript_exon_variant,,ENST00000596645,,n.212G>A,MODIFIER,,,,-1;MYO1F,non_coding_transcript_exon_variant,,ENST00000599123,,n.66G>A,MODIFIER,,,,-1;MYO1F,upstream_gene_variant,,ENST00000594977,,,MODIFIER,,,,-1;MYO1F,upstream_gene_variant,,ENST00000598529,,,MODIFIER,,,,-1","T","ENSG00000142347","ENST00000613525","Transcript","missense_variant","missense_variant","356/4296","88/3297","30/1098","E/K","Gaa/Aaa","rs369105985",null,-1,"MYO1F","HGNC","HGNC:7600","protein_coding","YES",null,"ENSP00000481682","O00160.189",null,"UPI00001678F0",{"$nulls":3},"P1",null,"deleterious(0)","probably_damaging(0.996)","2024-02-29",null,"PROSITE_profiles:PS51456;PANTHER:PTHR13140;PANTHER:PTHR13140:SF747;Pfam:PF00063;Gene3D:3.40.850.10;SMART:SM00242;Superfamily:SSF52540",{"$nulls":6},0,1.194E-4,"3.206e-05",0,0,0,0,0,"6.179e-05",0,"3.268e-05",1.194E-4,"EA","2.0281000615796074e-05",0,0,0,0,0,0,0,"4.629340037354268e-05",0,0,"4.629340037354268e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",5,{"$nulls":3},"GTCTTCGGTGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3693250","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADAMTS10",81794,"BI","GRCh38","chr19",8586668,8586668,"+","Frame_Shift_Del","DEL","G","G","-","rs782743337",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2293del","p.Gln765SerfsTer7","p.Q765Sfs*7","ENST00000597188","20/26",81,70,11,143,null,null,"ADAMTS10,frameshift_variant,p.Q765Sfs*7,ENST00000597188,NM_030957.4,c.2293del,HIGH,YES,,,-1;ADAMTS10,frameshift_variant,p.Q765Sfs*7,ENST00000270328,,c.2293del,HIGH,,,,-1;ADAMTS10,frameshift_variant,p.Q252Sfs*7,ENST00000595838,NM_001282352.1,c.754del,HIGH,,,,-1;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,,c.*1428del,MODIFIER,,,,-1;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,,c.*1170del,MODIFIER,,,,-1;ADAMTS10,3_prime_UTR_variant,,ENST00000593826,,c.*384del,MODIFIER,,,,-1;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596911,,n.499del,MODIFIER,,,,-1;ADAMTS10,downstream_gene_variant,,ENST00000596236,,,MODIFIER,,,,-1;ADAMTS10,downstream_gene_variant,,ENST00000603221,,,MODIFIER,,,,-1;AC130469.1,downstream_gene_variant,,ENST00000597256,,,MODIFIER,YES,,,1","-","ENSG00000142303","ENST00000597188","Transcript","frameshift_variant","frameshift_variant","2579/4251","2293/3312","765/1103","Q/X","Cag/ag","rs782743337",null,-1,"ADAMTS10","HGNC","HGNC:13201","protein_coding","YES","CCDS12206.1","ENSP00000471851",null,"A0A0A0MQW6.50","UPI00025D3090",null,"NM_030957.4","NM_030957.4","P1",{"$nulls":3},"20/26",null,"Gene3D:2.60.120.830;Pfam:PF05986;PANTHER:PTHR13723;PANTHER:PTHR13723:SF26",{"$nulls":41},"HIGH",1,"deletion",5,null,null,1,"GGGGCTGGGGGG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4746664","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["NOTCH3",4854,"BI","GRCh38","chr19",15170356,15170356,"+","Missense_Mutation","SNP","C","C","T","rs971041880",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.5089G>A","p.Val1697Met","p.V1697M","ENST00000263388","27/33",44,37,7,83,null,null,"NOTCH3,missense_variant,p.V1697M,ENST00000263388,NM_000435.3,c.5089G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),-1;NOTCH3,upstream_gene_variant,,ENST00000597756,,,MODIFIER,,,,-1;NOTCH3,upstream_gene_variant,,ENST00000595514,,,MODIFIER,,,,-1","T","ENSG00000074181","ENST00000263388","Transcript","missense_variant","missense_variant","5179/8680","5089/6966","1697/2321","V/M","Gtg/Atg","rs971041880;COSV54625693;COSV54640662",null,-1,"NOTCH3","HGNC","HGNC:7883","protein_coding","YES","CCDS12326.1","ENSP00000263388","Q9UM47.207",null,"UPI000013D3FA",null,"NM_000435.3","NM_000435.3","P1",null,"deleterious(0.01)","probably_damaging(0.999)","27/33",null,"PIRSF:PIRSF002279;PANTHER:PTHR24033;PANTHER:PTHR24033:SF176",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",1,"GCCCACGGGTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4074934;COSM4074935","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC5A5",6528,"BI","GRCh38","chr19",17872663,17872663,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.344C>T","p.Thr115Ile","p.T115I","ENST00000222248","2024-01-15",28,25,3,58,null,null,"SLC5A5,missense_variant,p.T115I,ENST00000222248,NM_000453.3,c.344C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.826),1;AC005796.1,upstream_gene_variant,,ENST00000623214,,,MODIFIER,YES,,,-1","T","ENSG00000105641","ENST00000222248","Transcript","missense_variant","missense_variant","719/3604","344/1932","115/643","T/I","aCc/aTc","COSV55831681",null,1,"SLC5A5","HGNC","HGNC:11040","protein_coding","YES","CCDS12368.1","ENSP00000222248","Q92911.179",null,"UPI00001359F6",null,"NM_000453.3","NM_000453.3","P1",null,"deleterious(0)","possibly_damaging(0.826)","2024-01-15",null,"PROSITE_profiles:PS50283;CDD:cd11503;PANTHER:PTHR42985;PANTHER:PTHR42985:SF11;Gene3D:1.20.1730.10;TIGRFAM:TIGR00813;Pfam:PF00474",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCTCACCAGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4075520","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF626",199777,"BI","GRCh38","chr19",20624951,20624951,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.926G>T","p.Gly309Val","p.G309V","ENST00000601440","2024-04-04",119,113,6,207,null,null,"ZNF626,missense_variant,p.G309V,ENST00000601440,NM_001076675.3,c.926G>T,MODERATE,,deleterious(0.01),probably_damaging(0.969),-1;ZNF626,missense_variant,p.G309V,ENST00000612591,,c.926G>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.994),-1;ZNF626,downstream_gene_variant,,ENST00000595405,,,MODIFIER,,,,-1;AC010636.2,intron_variant,,ENST00000595094,,n.363+20733G>T,MODIFIER,YES,,,-1","A","ENSG00000188171","ENST00000601440","Transcript","missense_variant","missense_variant","1051/6063","926/1587","309/528","G/V","gGa/gTa","COSV74129061;COSV99081904",null,-1,"ZNF626","HGNC","HGNC:30461","protein_coding",null,"CCDS42535.1","ENSP00000469958","Q68DY1.144",null,"UPI000035E843","Q68DY1-1","NM_001076675.3","NM_001076675.3",null,null,"deleterious(0.01)","probably_damaging(0.969)","2024-04-04",null,"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR23226;PANTHER:PTHR23226;PANTHER:PTHR23226:SF234;PANTHER:PTHR23226:SF234;Superfamily:SSF57667",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",4,null,"1;1",null,"TTTCTCCAGTA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4076096","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SIPA1L3",23094,"BI","GRCh38","chr19",38082106,38082106,"+","Missense_Mutation","SNP","G","G","A","rs1221926526",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.541G>A","p.Ala181Thr","p.A181T","ENST00000222345","2024-03-22",58,50,8,111,null,null,"SIPA1L3,missense_variant,p.A181T,ENST00000222345,NM_015073.3,c.541G>A,MODERATE,YES,tolerated(0.31),benign(0.014),1;SIPA1L3,downstream_gene_variant,,ENST00000476317,,,MODIFIER,,,,1","A","ENSG00000105738","ENST00000222345","Transcript","missense_variant","missense_variant","1070/8004","541/5346","181/1781","A/T","Gcg/Acg","rs1221926526;COSV55909965",null,1,"SIPA1L3","HGNC","HGNC:23801","protein_coding","YES","CCDS33007.1","ENSP00000222345","O60292.156",null,"UPI00001D8160",null,"NM_015073.3","NM_015073.3","P1",null,"tolerated(0.31)","benign(0.014)","2024-03-22",null,"PANTHER:PTHR15711;PANTHER:PTHR15711:SF15",{"$nulls":19},"6.756390121154254e-06",0,0,0,0,0,0,0,"1.542830068501644e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GTGACGCGGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4077643","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRIK5",2901,"BI","GRCh38","chr19",42062617,42062617,"+","Missense_Mutation","SNP","G","G","A","rs751946918",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.379C>T","p.Arg127Cys","p.R127C","ENST00000262895","2024-04-19",112,102,10,280,null,null,"GRIK5,missense_variant,p.R127C,ENST00000262895,NM_002088.4,c.379C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;GRIK5,missense_variant,p.R127C,ENST00000301218,NM_001301030.1,c.379C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.973),-1;GRIK5,missense_variant,p.R127C,ENST00000593562,,c.379C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;GRIK5,3_prime_UTR_variant,,ENST00000594528,,c.*271C>T,MODIFIER,,,,-1","A","ENSG00000105737","ENST00000262895","Transcript","missense_variant","missense_variant","379/3493","379/2943","127/980","R/C","Cgc/Tgc","rs751946918;COSV53475700",null,-1,"GRIK5","HGNC","HGNC:4583","protein_coding",null,"CCDS12595.1","ENSP00000262895","Q16478.183",null,"UPI000013D353","Q16478-1","NM_002088.4",null,"P1",null,"deleterious(0)","probably_damaging(0.976)","2024-04-19",null,"Gene3D:3.40.50.2300;Pfam:PF01094;PANTHER:PTHR18966;PANTHER:PTHR18966:SF351;Superfamily:SSF53822;CDD:cd06394",{"$nulls":8},"1.989e-05",0,"5.783e-05",0,"5.437e-05",0,"1.758e-05",0,0,"5.783e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"AAGGCGGGGTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4078643;COSM4078644","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SMG9",56006,"BI","GRCh38","chr19",43732868,43732868,"+","Missense_Mutation","SNP","C","C","T","rs1032908644",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1474G>A","p.Glu492Lys","p.E492K","ENST00000270066","13/14",72,66,6,162,null,null,"SMG9,missense_variant,p.E492K,ENST00000270066,NM_019108.4,c.1474G>A,MODERATE,YES,deleterious(0),benign(0.352),-1;SMG9,missense_variant,p.E492K,ENST00000601170,,c.1474G>A,MODERATE,,deleterious(0),benign(0.352),-1;SMG9,non_coding_transcript_exon_variant,,ENST00000600097,,n.243G>A,MODIFIER,,,,-1;SMG9,downstream_gene_variant,,ENST00000594081,,,MODIFIER,,,,-1;SMG9,downstream_gene_variant,,ENST00000595700,,,MODIFIER,,,,-1;SMG9,downstream_gene_variant,,ENST00000597598,,,MODIFIER,,,,-1;SMG9,downstream_gene_variant,,ENST00000598860,,,MODIFIER,,,,-1","T","ENSG00000105771","ENST00000270066","Transcript","missense_variant","missense_variant","1789/5491","1474/1563","492/520","E/K","Gag/Aag","rs1032908644;COSV54213893",null,-1,"SMG9","HGNC","HGNC:25763","protein_coding","YES","CCDS33043.2","ENSP00000270066","Q9H0W8.143","A0A024R0Q0.43","UPI0000037B1C","Q9H0W8-1","NM_019108.4","NM_019108.4","P1",null,"deleterious(0)","benign(0.352)","13/14",null,"PDB-ENSP_mappings:6l54.C;PDB-ENSP_mappings:6syt.C;PANTHER:PTHR14270",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","2.7067599148722365e-05",0,0,0,0,0,0,0,"6.174750160425901e-05",0,0,"6.174750160425901e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTTCTCGGTGA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1750957","N","Unknown",{"$nulls":3},"muse;mutect2"]
["LRRC4B",94030,"BI","GRCh38","chr19",50519330,50519330,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.383G>A","p.Gly128Asp","p.G128D","ENST00000389201","2024-03-03",51,41,10,83,null,null,"LRRC4B,missense_variant,p.G128D,ENST00000652263,NM_001080457.2,c.383G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.996),-1;LRRC4B,missense_variant,p.G128D,ENST00000599957,NM_001348568.1,c.383G>A,MODERATE,,deleterious(0.05),probably_damaging(0.996),-1;LRRC4B,missense_variant,p.G128D,ENST00000389201,,c.383G>A,MODERATE,,deleterious(0.05),probably_damaging(0.996),-1;LRRC4B,missense_variant,p.G128D,ENST00000600381,,c.383G>A,MODERATE,,deleterious(0.03),probably_damaging(0.996),-1;ASPDH,upstream_gene_variant,,ENST00000376916,NM_001024656.3,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000598657,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000601207,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000597030,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000593569,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000601287,,,MODIFIER,,,,-1","T","ENSG00000131409","ENST00000389201","Transcript","missense_variant","missense_variant","520/2958","383/2142","128/713","G/D","gGc/gAc","COSV65349420",null,-1,"LRRC4B","HGNC","HGNC:25042","protein_coding",null,"CCDS42595.1","ENSP00000373853","Q9NT99.150","A0A024R4I8.56","UPI00000497E7",{"$nulls":3},"P1",null,"deleterious(0.05)","probably_damaging(0.996)","2024-03-03",null,"Gene3D:3.80.10.10;Pfam:PF13855;PROSITE_profiles:PS51450;PANTHER:PTHR24369;PANTHER:PTHR24369:SF8;SMART:SM00369;Superfamily:SSF52058",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"AGGCGCCCACC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4080435","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF350",59348,"BI","GRCh38","chr19",51965855,51965855,"+","Nonsense_Mutation","SNP","G","G","A","rs770149500",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.598C>T","p.Arg200Ter","p.R200*","ENST00000243644","2024-05-05",191,169,22,340,null,null,"ZNF350,stop_gained,p.R200*,ENST00000243644,NM_021632.4,c.598C>T,HIGH,YES,,,-1;ZNF350,downstream_gene_variant,,ENST00000593596,,,MODIFIER,,,,-1;ZNF350,downstream_gene_variant,,ENST00000594929,,,MODIFIER,,,,-1;ZNF350,downstream_gene_variant,,ENST00000597788,,,MODIFIER,,,,-1;ZNF350,downstream_gene_variant,,ENST00000601430,,,MODIFIER,,,,-1;ZNF350,downstream_gene_variant,,ENST00000600703,,,MODIFIER,,,,-1;ZNF350,downstream_gene_variant,,ENST00000598254,,,MODIFIER,,,,-1;ZNF350-AS1,intron_variant,,ENST00000595010,,n.78-10536G>A,MODIFIER,,,,1;ZNF350-AS1,intron_variant,,ENST00000600253,,n.103-10536G>A,MODIFIER,,,,1;ZNF350-AS1,intron_variant,,ENST00000658402,,n.92-10536G>A,MODIFIER,YES,,,1;ZNF350-AS1,intron_variant,,ENST00000661211,,n.90-10536G>A,MODIFIER,,,,1","A","ENSG00000256683","ENST00000243644","Transcript","stop_gained","stop_gained","840/2355","598/1599","200/532","R/*","Cga/Tga","rs770149500;COSV54707911",null,-1,"ZNF350","HGNC","HGNC:16656","protein_coding","YES","CCDS12845.1","ENSP00000243644","Q9GZX5.162",null,"UPI00000721F1",null,"NM_021632.4","NM_021632.4","P1",{"$nulls":3},"2024-05-05",null,"PANTHER:PTHR24404;PANTHER:PTHR24404:SF11",{"$nulls":8},"1.591e-05",0,0,0,0,0,"3.519e-05",0,0,"3.519e-05","gnomAD_NFE","6.761690201528836e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"0;1",null,"TTTTCGTGTTT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4080759","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TFPT",29844,"BI","GRCh38","chr19",54108045,54108045,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.623C>T","p.Pro208Leu","p.P208L","ENST00000391759","2024-05-06",82,74,7,196,null,null,"TFPT,missense_variant,p.P208L,ENST00000391759,NM_013342.3,c.623C>T,MODERATE,YES,deleterious(0.04),benign(0.05),-1;TFPT,missense_variant,p.P199L,ENST00000391758,NM_001321792.1,c.596C>T,MODERATE,,deleterious(0.05),benign(0.05),-1;TFPT,3_prime_UTR_variant,,ENST00000391757,,c.*4C>T,MODIFIER,,,,-1;NDUFA3,intron_variant,,ENST00000391764,,c.164-395G>A,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000303553,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000391762,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000391763,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000420296,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000471292,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000485876,NM_004542.4,,MODIFIER,YES,,,1;NDUFA3,upstream_gene_variant,,ENST00000480713,,,MODIFIER,,,,1;NDUFA3,upstream_gene_variant,,ENST00000482960,,,MODIFIER,,,,1;TFPT,3_prime_UTR_variant,,ENST00000420715,,c.*234C>T,MODIFIER,,,,-1;NDUFA3,intron_variant,,ENST00000419113,,c.*77-395G>A,MODIFIER,,,,1;NDUFA3,intron_variant,,ENST00000422029,,c.*199-395G>A,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000417903,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000451517,,,MODIFIER,,,,1;NDUFA3,downstream_gene_variant,,ENST00000484103,,,MODIFIER,,,,1","A","ENSG00000105619","ENST00000391759","Transcript","missense_variant","missense_variant","1029/1205","623/762","208/253","P/L","cCa/cTa","COSV57837201",null,-1,"TFPT","HGNC","HGNC:13630","protein_coding","YES","CCDS12878.1","ENSP00000375639","P0C1Z6.124","A0A024R4Q5.52","UPI000006CFD4","P0C1Z6-1","NM_013342.3",null,"A1",null,"deleterious(0.04)","benign(0.05)","2024-05-06",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR35084",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCTCTGGAGTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4081177","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZIM3",114026,"BI","GRCh38","chr19",57135973,57135973,"+","Missense_Mutation","SNP","C","C","T","rs774474471",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.364G>A","p.Gly122Arg","p.G122R","ENST00000269834","2024-05-05",188,166,22,274,null,null,"ZIM3,missense_variant,p.G122R,ENST00000269834,NM_052882.1,c.364G>A,MODERATE,YES,tolerated(0.53),benign(0.006),-1;USP29,downstream_gene_variant,,ENST00000254181,NM_020903.2,,MODIFIER,YES,,,1;USP29,downstream_gene_variant,,ENST00000598197,,,MODIFIER,,,,1","T","ENSG00000141946","ENST00000269834","Transcript","missense_variant","missense_variant","750/2627","364/1419","122/472","G/R","Gga/Aga","rs774474471;COSV54140013",null,-1,"ZIM3","HGNC","HGNC:16366","protein_coding","YES","CCDS33125.1","ENSP00000269834","Q96PE6.160",null,"UPI000013C3E0",null,"NM_052882.1","NM_052882.1","P1",null,"tolerated(0.53)","benign(0.006)","2024-05-05",null,"Gene3D:3.30.160.60;PANTHER:PTHR24377;PANTHER:PTHR24377:SF30",{"$nulls":8},"1.988e-05",0,"2.891e-05",0,1.087E-4,0,0,0,"6.533e-05",1.087E-4,"gnomAD_EAS","1.3525599570129998e-05","2.4326200218638405e-05",0,"6.633940211031586e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGATCCGTCAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM357745","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC23A2",9962,"BI","GRCh38","chr20",4899687,4899687,"+","Missense_Mutation","SNP","G","G","A","rs751107544",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.350C>T","p.Thr117Met","p.T117M","ENST00000338244","2024-06-17",162,146,16,278,null,null,"SLC23A2,missense_variant,p.T117M,ENST00000379333,NM_203327.2,c.350C>T,MODERATE,YES,tolerated(0.1),probably_damaging(1),-1;SLC23A2,missense_variant,p.T117M,ENST00000338244,NM_005116.6,c.350C>T,MODERATE,,tolerated(0.1),probably_damaging(1),-1;SLC23A2,upstream_gene_variant,,ENST00000423430,,,MODIFIER,,,,-1;SLC23A2,non_coding_transcript_exon_variant,,ENST00000468355,,n.716C>T,MODIFIER,,,,-1","A","ENSG00000089057","ENST00000338244","Transcript","missense_variant","missense_variant","736/6953","350/1953","117/650","T/M","aCg/aTg","rs751107544;COSV57771608",null,-1,"SLC23A2","HGNC","HGNC:10973","protein_coding",null,"CCDS13085.1","ENSP00000344322","Q9UGH3.174","A0A140VK48.30","UPI0000136292","Q9UGH3-1","NM_005116.6","NM_005116.6","P1",null,"tolerated(0.1)","probably_damaging(1)","2024-06-17",null,"Pfam:PF00860;PANTHER:PTHR11119;PANTHER:PTHR11119:SF33;Transmembrane_helices:TMhelix",{"$nulls":8},"3.977e-06",0,0,0,0,0,0,0,"3.266e-05","3.266e-05","gnomAD_SAS","6.76023000778514e-06","2.4324999685632065e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CGATCGTGCCG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4099323","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SYNDIG1",79953,"BI","GRCh38","chr20",24543476,24543476,"+","Missense_Mutation","SNP","G","G","A","rs768001570",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.379G>A","p.Glu127Lys","p.E127K","ENST00000376862","2024-02-04",125,112,13,215,null,null,"SYNDIG1,missense_variant,p.E127K,ENST00000376862,NM_001323606.1&NM_024893.3&NM_001323607.1,c.379G>A,MODERATE,YES,tolerated(0.15),benign(0.015),1","A","ENSG00000101463","ENST00000376862","Transcript","missense_variant","missense_variant","582/2092","379/777","127/258","E/K","Gag/Aag","rs768001570;COSV65232692",null,1,"SYNDIG1","HGNC","HGNC:15885","protein_coding","YES","CCDS13164.1","ENSP00000366058","Q9H7V2.133",null,"UPI00001285DC",null,"NM_001323606.1;NM_024893.3;NM_001323607.1","NM_024893.3","P1",null,"tolerated(0.15)","benign(0.015)","2024-02-04",null,"PANTHER:PTHR14768:SF3;PANTHER:PTHR14768",{"$nulls":8},"1.198e-05",0,"2.893e-05",0,0,0,0,0,"6.533e-05","6.533e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCCTCGAGTAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3840600","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UCKL1",54963,"BI","GRCh38","chr20",63940246,63940246,"+","Missense_Mutation","SNP","C","C","T","rs1386476535",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1471G>A","p.Val491Met","p.V491M","ENST00000354216","14/15",38,28,10,62,null,null,"UCKL1,missense_variant,p.V476M,ENST00000369908,NM_001353478.2&NM_001353479.2&NM_001193379.2,c.1426G>A,MODERATE,,deleterious(0),probably_damaging(0.915),-1;UCKL1,missense_variant,p.V491M,ENST00000354216,NM_001353481.2&NM_001353476.2&NM_001353477.2&NM_001353480.2&NM_001353482.2&NM_001353475.2&NM_017859.4,c.1471G>A,MODERATE,YES,deleterious(0),benign(0.356),-1;UCKL1,3_prime_UTR_variant,,ENST00000358711,,c.*260G>A,MODIFIER,,,,-1;DNAJC5,downstream_gene_variant,,ENST00000360864,NM_025219.3,,MODIFIER,YES,,,1;UCKL1,downstream_gene_variant,,ENST00000430743,,,MODIFIER,,,,-1;MIR647,downstream_gene_variant,,ENST00000384823,,,MODIFIER,YES,,,-1;MIR1914,downstream_gene_variant,,ENST00000607800,,,MODIFIER,YES,,,-1;UCKL1,non_coding_transcript_exon_variant,,ENST00000632800,,n.1381G>A,MODIFIER,,,,-1;DNAJC5,downstream_gene_variant,,ENST00000470551,,,MODIFIER,,,,1","T","ENSG00000198276","ENST00000354216","Transcript","missense_variant","missense_variant","1515/1838","1471/1647","491/548","V/M","Gtg/Atg","rs1386476535;COSV62402417",null,-1,"UCKL1","HGNC","HGNC:15938","protein_coding","YES","CCDS13547.1","ENSP00000346155","Q9NWZ5.160",null,"UPI000004A08C","Q9NWZ5-1","NM_001353481.2;NM_001353476.2;NM_001353477.2;NM_001353480.2;NM_001353482.2;NM_001353475.2;NM_017859.4","NM_017859.4",null,null,"deleterious(0)","benign(0.356)","14/15",null,"Superfamily:SSF53271;Pfam:PF14681;Gene3D:3.40.50.2020;PANTHER:PTHR10285:SF68;PANTHER:PTHR10285;CDD:cd06223",{"$nulls":19},"1.3518400010070764e-05","2.4309600121341646e-05",0,"6.625150126637891e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GTGCACGCCCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4100525","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CECR2",27443,"BI","GRCh38","chr22",17548885,17548885,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.3658A>G","p.Thr1220Ala","p.T1220A","ENST00000342247","18/20",42,38,4,86,null,null,"CECR2,missense_variant,p.T1178A,ENST00000612582,,c.3532A>G,MODERATE,,tolerated(0.16),benign(0.112),1;CECR2,missense_variant,p.T1220A,ENST00000342247,NM_001290047.2,c.3658A>G,MODERATE,YES,tolerated(0.14),benign(0.112),1;CECR2,missense_variant,p.T1036A,ENST00000400585,NM_001290046.1,c.3106A>G,MODERATE,,tolerated(0.15),benign(0.112),1;CECR2,missense_variant,p.T1037A,ENST00000262608,,c.3109A>G,MODERATE,,tolerated(0.15),benign(0.112),1;CECR2,upstream_gene_variant,,ENST00000355219,,,MODIFIER,,,,1;AC007666.2,intron_variant,,ENST00000651475,,n.102-2834T>C,MODIFIER,YES,,,-1","G","ENSG00000099954","ENST00000342247","Transcript","missense_variant","missense_variant","4076/6178","3658/4455","1220/1484","T/A","Act/Gct","COSV52837414",null,1,"CECR2","HGNC","HGNC:1840","protein_coding","YES",null,"ENSP00000341219","Q9BXF3.160",null,"UPI0000DD0932","Q9BXF3-1","NM_001290047.2",null,"A2",null,"tolerated(0.14)","benign(0.112)","18/20",null,"PANTHER:PTHR47092",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"AGCGAACTCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4102437;COSM4102438","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["DGCR8",54487,"BI","GRCh38","chr22",20089672,20089672,"+","Missense_Mutation","SNP","G","G","A","rs759142349",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.884G>A","p.Arg295His","p.R295H","ENST00000351989","2024-04-14",99,91,8,165,null,null,"DGCR8,missense_variant,p.R295H,ENST00000351989,NM_022720.7,c.884G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.908),1;DGCR8,missense_variant,p.R295H,ENST00000383024,NM_001190326.1,c.884G>A,MODERATE,,deleterious(0.03),benign(0.011),1;DGCR8,missense_variant,p.R295H,ENST00000407755,,c.884G>A,MODERATE,,deleterious(0.03),benign(0.011),1;DGCR8,downstream_gene_variant,,ENST00000457069,,,MODIFIER,,,,1;MIR1306,downstream_gene_variant,,ENST00000408439,,,MODIFIER,YES,,,1;MIR3618,downstream_gene_variant,,ENST00000580330,,,MODIFIER,YES,,,1;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,,n.1506G>A,MODIFIER,,,,1;DGCR8,non_coding_transcript_exon_variant,,ENST00000498171,,n.290G>A,MODIFIER,,,,1","A","ENSG00000128191","ENST00000351989","Transcript","missense_variant","missense_variant","1304/4506","884/2322","295/773","R/H","cGt/cAt","rs759142349;COSV61225904",null,1,"DGCR8","HGNC","HGNC:2847","protein_coding","YES","CCDS13773.1","ENSP00000263209","Q8WYQ5.178",null,"UPI0000129225","Q8WYQ5-1","NM_022720.7","NM_022720.7","P1",null,"deleterious(0.03)","possibly_damaging(0.908)","2024-04-14",null,"PDB-ENSP_mappings:3le4.A;PDB-ENSP_mappings:6lxd.B;PDB-ENSP_mappings:6lxd.C;PDB-ENSP_mappings:6lxe.B;PDB-ENSP_mappings:6lxe.C;PDB-ENSP_mappings:6v5b.B;PDB-ENSP_mappings:6v5b.C;PDB-ENSP_mappings:6v5c.B;PDB-ENSP_mappings:6v5c.C;PANTHER:PTHR13482;Superfamily:SSF51045",{"$nulls":8},"1.992e-05",0,"8.681e-05",0,0,0,"8.817e-06",0,"3.267e-05","8.681e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"AGGTCGTGGCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4102652","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PI4KA",5297,"BI","GRCh38","chr22",20721406,20721406,"+","Missense_Mutation","SNP","G","G","A","rs1050137675",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.5008C>T","p.Arg1670Trp","p.R1670W","ENST00000255882","43/55",108,88,19,220,null,null,"PI4KA,missense_variant,p.R1670W,ENST00000255882,NM_001362863.1&NM_001362862.1&NM_058004.4,c.5008C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.983),-1;PI4KA,missense_variant,p.R5W,ENST00000399213,,c.13C>T,MODERATE,,deleterious(0),possibly_damaging(0.892),-1;PI4KA,non_coding_transcript_exon_variant,,ENST00000492581,,n.604C>T,MODIFIER,,,,-1;PI4KA,non_coding_transcript_exon_variant,,ENST00000466772,,n.185C>T,MODIFIER,,,,-1;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,,n.1381C>T,MODIFIER,,,,-1;PI4KA,upstream_gene_variant,,ENST00000466394,,,MODIFIER,,,,-1;PI4KA,downstream_gene_variant,,ENST00000489966,,,MODIFIER,,,,-1","A","ENSG00000241973","ENST00000255882","Transcript","missense_variant","missense_variant","5094/6751","5008/6309","1670/2102","R/W","Cgg/Tgg","rs1050137675;COSV55405880",null,-1,"PI4KA","HGNC","HGNC:8983","protein_coding","YES","CCDS33603.2","ENSP00000255882","P42356.188",null,"UPI0000E06BD6","P42356-1","NM_001362863.1;NM_001362862.1;NM_058004.4","NM_058004.4","P1",null,"deleterious(0.02)","probably_damaging(0.983)","43/55",null,"PDB-ENSP_mappings:6bq1.A;PDB-ENSP_mappings:6bq1.E;PROSITE_profiles:PS51545;CDD:cd00871;PANTHER:PTHR10048:SF15;PANTHER:PTHR10048;Pfam:PF00613;Gene3D:1.25.40.70;SMART:SM00145;Superfamily:SSF48371",{"$nulls":8},"3.977e-06",0,0,0,0,0,"8.793e-06",0,0,"8.793e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTCCCGCACAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4102775;COSM4102776","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AP1B1",162,"BI","GRCh38","chr22",29349322,29349322,"+","Missense_Mutation","SNP","G","G","A","rs1322502108",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1333C>T","p.Arg445Trp","p.R445W","ENST00000405198","2024-10-22",93,85,8,164,null,null,"AP1B1,missense_variant,p.R445W,ENST00000357586,NM_001378565.1&NM_001378564.1&NM_001378563.1&NM_001378562.1&NM_001127.4,c.1333C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;AP1B1,missense_variant,p.R445W,ENST00000432560,NM_145730.2&NM_001378566.1,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;AP1B1,missense_variant,p.R445W,ENST00000317368,NM_001166019.2,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;AP1B1,missense_variant,p.R445W,ENST00000405198,,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;AP1B1,missense_variant,p.R445W,ENST00000402502,,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;AP1B1,missense_variant,p.R445W,ENST00000415447,,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;AP1B1,missense_variant,p.R445W,ENST00000421126,,c.1333C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;AP1B1,missense_variant,p.R158W,ENST00000415756,,c.472C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.973),-1","A","ENSG00000100280","ENST00000405198","Transcript","missense_variant","missense_variant","1365/3838","1333/2850","445/949","R/W","Cgg/Tgg","rs1322502108;COSV58015095",null,-1,"AP1B1","HGNC","HGNC:554","protein_coding",null,"CCDS13855.1","ENSP00000384194","Q10567.180",null,"UPI0000124FE1",{"$nulls":3},"A1",null,"deleterious(0)","probably_damaging(0.999)","2024-10-22",null,"PANTHER:PTHR11134:SF31;PANTHER:PTHR11134;Pfam:PF01602;PIRSF:PIRSF002291;Gene3D:1.25.10.10;Superfamily:SSF48371",{"$nulls":8},"3.981e-06",0,0,0,0,0,"8.802e-06",0,0,"8.802e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"AGCCCGGGCCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4103313;COSM4103314","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PATZ1",23598,"BI","GRCh38","chr22",31345335,31345335,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.268G>T","p.Ala90Ser","p.A90S","ENST00000266269","2024-01-05",37,34,3,80,null,null,"PATZ1,missense_variant,p.A90S,ENST00000266269,NM_014323.3,c.268G>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.245),-1;PATZ1,missense_variant,p.A90S,ENST00000405309,NM_032052.2,c.268G>T,MODERATE,,tolerated(0.84),benign(0.015),-1;PATZ1,missense_variant,p.A90S,ENST00000351933,NM_032050.2,c.268G>T,MODERATE,,tolerated(0.95),benign(0.023),-1;PATZ1,missense_variant,p.A90S,ENST00000215919,NM_032051.2,c.268G>T,MODERATE,,tolerated_low_confidence(0.44),benign(0.015),-1;PATZ1,upstream_gene_variant,,ENST00000465287,,,MODIFIER,,,,-1;PATZ1,upstream_gene_variant,,ENST00000494109,,,MODIFIER,,,,-1;LINC01521,upstream_gene_variant,,ENST00000504184,,,MODIFIER,YES,,,1;LINC01521,upstream_gene_variant,,ENST00000614284,,,MODIFIER,,,,1","A","ENSG00000100105","ENST00000266269","Transcript","missense_variant","missense_variant","1012/3895","268/2064","90/687","A/S","Gcg/Tcg","COSV99315120",null,-1,"PATZ1","HGNC","HGNC:13071","protein_coding","YES","CCDS13894.1","ENSP00000266269","Q9HBE1.181","A0A024R1M5.53","UPI000006D7C4","Q9HBE1-1","NM_014323.3","NM_014323.3","P1",null,"deleterious_low_confidence(0.01)","benign(0.245)","2024-01-05",null,"Low_complexity_(Seg):seg;PROSITE_profiles:PS50097;CDD:cd18207;PANTHER:PTHR24399:SF15;PANTHER:PTHR24399;Gene3D:3.30.710.10;Pfam:PF00651;SMART:SM00225;Superfamily:SSF54695",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CGTCGCGCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["CELSR1",9620,"BI","GRCh38","chr22",46535330,46535330,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1841del","p.Gly614AlafsTer54","p.G614Afs*54","ENST00000262738","1/35",41,35,6,63,null,null,"CELSR1,frameshift_variant,p.G614Afs*54,ENST00000262738,NM_014246.4,c.1841del,HIGH,,,,-1;CELSR1,frameshift_variant,p.G614Afs*54,ENST00000674500,NM_001378328.1,c.1841del,HIGH,YES,,,-1;CELSR1,frameshift_variant,p.G614Afs*54,ENST00000454637,,c.1841del,HIGH,,,,-1;CELSR1,upstream_gene_variant,,ENST00000497509,,,MODIFIER,,,,-1","-","ENSG00000075275","ENST00000262738","Transcript","frameshift_variant","frameshift_variant","2291/11839","1841/9045","614/3014","G/X","gGc/gc",null,null,-1,"CELSR1","HGNC","HGNC:1850","protein_coding",null,"CCDS14076.1","ENSP00000262738","Q9NYQ6.193",null,"UPI0000040648","Q9NYQ6-1","NM_014246.4",null,"P2",{"$nulls":3},"1/35",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24026;PANTHER:PTHR24026:SF36;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"CTGCCGCCCCCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1416908","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PRKX",5613,"BI","GRCh38","chrX",3655399,3655399,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.349C>T","p.His117Tyr","p.H117Y","ENST00000262848","2024-03-09",57,53,4,82,null,null,"PRKX,missense_variant,p.H117Y,ENST00000262848,NM_005044.5,c.349C>T,MODERATE,YES,deleterious(0),probably_damaging(0.95),-1;PRKX,non_coding_transcript_exon_variant,,ENST00000425240,,n.51C>T,MODIFIER,,,,-1;PRKX-AS1,upstream_gene_variant,,ENST00000414074,,,MODIFIER,YES,,,1","A","ENSG00000183943","ENST00000262848","Transcript","missense_variant","missense_variant","745/6102","349/1077","117/358","H/Y","Cat/Tat","COSV53322482",null,-1,"PRKX","HGNC","HGNC:9441","protein_coding","YES","CCDS14125.1","ENSP00000262848","P51817.175","A0A024RBU5.53","UPI000000D998",null,"NM_005044.5","NM_005044.5","P1",null,"deleterious(0)","probably_damaging(0.95)","2024-03-09",null,"PROSITE_profiles:PS50011;CDD:cd05612;PANTHER:PTHR24353;PANTHER:PTHR24353:SF37;Gene3D:3.30.200.20;Pfam:PF00069;SMART:SM00220;Superfamily:SSF56112",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GTCATGCCACG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4109275","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DMD",1756,"BI","GRCh38","chrX",31173552,31173552,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.10315C>A","p.His3439Asn","p.H3439N","ENST00000357033","72/79",59,50,9,130,null,null,"DMD,missense_variant,p.H3439N,ENST00000357033,NM_000109.4&NM_004006.3&NM_004011.4&NM_004012.4,c.10315C>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.839),-1;DMD,missense_variant,p.H3435N,ENST00000378677,NM_004009.3&NM_004010.3,c.10303C>A,MODERATE,,deleterious(0.02),possibly_damaging(0.628),-1;DMD,missense_variant,p.H3438N,ENST00000620040,,c.10312C>A,MODERATE,,deleterious(0.02),probably_damaging(0.945),-1;DMD,missense_variant,p.H3434N,ENST00000619831,,c.10300C>A,MODERATE,,deleterious(0.02),probably_damaging(0.958),-1;DMD,missense_variant,p.H979N,ENST00000378707,NM_004013.2,c.2935C>A,MODERATE,,deleterious(0.02),benign(0.191),-1;DMD,missense_variant,p.H966N,ENST00000359836,NM_004022.2,c.2896C>A,MODERATE,,tolerated(0.05),possibly_damaging(0.452),-1;DMD,missense_variant,p.H1122N,ENST00000358062,,c.3364C>A,MODERATE,,deleterious(0.02),probably_damaging(0.995),-1;DMD,missense_variant,p.H710N,ENST00000343523,NM_004014.2,c.2128C>A,MODERATE,,tolerated(0.14),probably_damaging(0.98),-1;DMD,missense_variant,p.H979N,ENST00000474231,NM_004021.3,c.2935C>A,MODERATE,,deleterious(0.03),benign(0.191),-1;DMD,missense_variant,p.H371N,ENST00000378723,NM_004016.3,c.1111C>A,MODERATE,,tolerated(0.32),benign(0.179),-1;DMD,missense_variant,p.H371N,ENST00000378702,NM_004017.3&NM_004015.3,c.1111C>A,MODERATE,,tolerated(0.31),probably_damaging(0.954),-1;DMD,missense_variant,p.H358N,ENST00000361471,NM_004018.3,c.1072C>A,MODERATE,,tolerated(0.31),probably_damaging(0.922),-1;DMD,missense_variant,p.H229N,ENST00000378705,,c.685C>A,MODERATE,,tolerated(0.16),benign(0.108),-1;DMD,intron_variant,,ENST00000378680,NM_004019.3,c.1019+5117C>A,MODIFIER,,,,-1;DMD,intron_variant,,ENST00000541735,NM_004023.3&NM_004020.3,c.2843+5117C>A,MODIFIER,,,,-1;DMD,upstream_gene_variant,,ENST00000481143,,,MODIFIER,,,,-1;DMD,downstream_gene_variant,,ENST00000475732,,,MODIFIER,,,,-1","T","ENSG00000198947","ENST00000357033","Transcript","missense_variant","missense_variant","10552/13992","10315/11058","3439/3685","H/N","Cat/Aat","COSV58895635",null,-1,"DMD","HGNC","HGNC:2928","protein_coding","YES","CCDS14233.1","ENSP00000354923",null,"A0A075B6G3.54","UPI000049E111",null,"NM_000109.4;NM_004006.3;NM_004011.4;NM_004012.4","NM_004006.3","P4",null,"deleterious(0.02)","possibly_damaging(0.839)","72/79",null,"PIRSF:PIRSF002341;PANTHER:PTHR12268;PANTHER:PTHR12268:SF15",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ATAATGTTCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4108982;COSM4108983;COSM4108984;COSM4108985;COSM4108986;COSM4108987","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDK16",5127,"BI","GRCh38","chrX",47228612,47228612,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1421C>T","p.Ala474Val","p.A474V","ENST00000357227","15/16",102,94,7,178,null,null,"CDK16,missense_variant,p.A480V,ENST00000457458,NM_033018.4,c.1439C>T,MODERATE,,tolerated(0.05),benign(0.012),1;CDK16,missense_variant,p.A474V,ENST00000357227,NM_006201.5,c.1421C>T,MODERATE,,deleterious(0.05),benign(0.01),1;CDK16,missense_variant,p.A548V,ENST00000276052,NM_001170460.1,c.1643C>T,MODERATE,YES,tolerated(0.05),benign(0.192),1;CDK16,missense_variant,p.A426V,ENST00000622098,,c.1277C>T,MODERATE,,tolerated(0.05),benign(0.005),1;CDK16,missense_variant,p.A474V,ENST00000518022,,c.1421C>T,MODERATE,,deleterious(0.05),benign(0.01),1;CDK16,missense_variant,p.A238V,ENST00000523344,,c.713C>T,MODERATE,,tolerated(0.09),benign(0.007),1;CDK16,missense_variant,p.A61V,ENST00000462827,,c.182C>T,MODERATE,,deleterious(0.02),benign(0.132),1;CDK16,missense_variant,p.A61V,ENST00000520141,,c.182C>T,MODERATE,,tolerated_low_confidence(0.2),possibly_damaging(0.589),1;CDK16,intron_variant,,ENST00000517426,,c.1136-759C>T,MODIFIER,,,,1;USP11,upstream_gene_variant,,ENST00000218348,,,MODIFIER,YES,,,1;USP11,upstream_gene_variant,,ENST00000377080,,,MODIFIER,,,,1;USP11,upstream_gene_variant,,ENST00000377107,NM_001371072.1,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000518391,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000519758,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000520893,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000522883,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000523034,,,MODIFIER,,,,1;CDK16,non_coding_transcript_exon_variant,,ENST00000428400,,n.2638C>T,MODIFIER,,,,1;CDK16,non_coding_transcript_exon_variant,,ENST00000462483,,n.409C>T,MODIFIER,,,,1;USP11,upstream_gene_variant,,ENST00000469080,,,MODIFIER,,,,1;USP11,upstream_gene_variant,,ENST00000478596,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000493213,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000520295,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000522234,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000523543,,,MODIFIER,,,,1;CDK16,downstream_gene_variant,,ENST00000523699,,,MODIFIER,,,,1","T","ENSG00000102225","ENST00000357227","Transcript","missense_variant","missense_variant","1852/3151","1421/1491","474/496","A/V","gCc/gTc","COSV52091279",null,1,"CDK16","HGNC","HGNC:8749","protein_coding",null,"CCDS14276.1","ENSP00000349762","Q00536.197","A0A140VK97.18","UPI000012DFE1","Q00536-1","NM_006201.5","NM_006201.5","P4",null,"deleterious(0.05)","benign(0.01)","15/16",null,"Gene3D:1.10.510.10;PDB-ENSP_mappings:3mtl.A;PDB-ENSP_mappings:5g6v.A;PDB-ENSP_mappings:5g6v.B;PANTHER:PTHR24056;PANTHER:PTHR24056:SF174",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGAGGCCAGCC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4109636;COSM4109637","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MSN",4478,"BI","GRCh38","chrX",65727877,65727877,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.160G>A","p.Gly54Ser","p.G54S","ENST00000360270","2024-03-13",84,74,10,105,null,null,"MSN,missense_variant,p.G54S,ENST00000360270,NM_002444.3,c.160G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.577),1;MSN,missense_variant,p.G43S,ENST00000609672,,c.127G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.577),1","A","ENSG00000147065","ENST00000360270","Transcript","missense_variant","missense_variant","348/3960","160/1734","54/577","G/S","Ggt/Agt","COSV64303496",null,1,"MSN","HGNC","HGNC:7373","protein_coding","YES","CCDS14382.1","ENSP00000353408","P26038.225","V9HWC0.57","UPI000013DA94",null,"NM_002444.3","NM_002444.3","P1",null,"deleterious(0.03)","possibly_damaging(0.577)","2024-03-13",null,"PDB-ENSP_mappings:1e5w.A;PDB-ENSP_mappings:1ef1.A;PDB-ENSP_mappings:1ef1.B;PDB-ENSP_mappings:1sgh.A;PDB-ENSP_mappings:6txq.AAA;PDB-ENSP_mappings:6txs.AAA;PANTHER:PTHR23281;PANTHER:PTHR23281:SF26;PROSITE_profiles:PS50057;Superfamily:SSF54236;SMART:SM00295;Pfam:PF09379;Gene3D:3.10.20.90;PIRSF:PIRSF002305;CDD:cd17187",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTAAAGGTTTC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4110586","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MSN",4478,"BI","GRCh38","chrX",65739837,65739837,"+","Missense_Mutation","SNP","C","C","T","rs1417887388",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1678C>T","p.Arg560Cys","p.R560C","ENST00000360270","13/13",114,103,10,238,null,null,"MSN,missense_variant,p.R560C,ENST00000360270,NM_002444.3,c.1678C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1","T","ENSG00000147065","ENST00000360270","Transcript","missense_variant","missense_variant","1866/3960","1678/1734","560/577","R/C","Cgc/Tgc","rs1417887388;COSV64303309",null,1,"MSN","HGNC","HGNC:7373","protein_coding","YES","CCDS14382.1","ENSP00000353408","P26038.225","V9HWC0.57","UPI000013DA94",null,"NM_002444.3","NM_002444.3","P1",null,"deleterious(0)","probably_damaging(0.999)","13/13",null,"PDB-ENSP_mappings:1ef1.C;PDB-ENSP_mappings:1ef1.D;Prints:PR00661;PANTHER:PTHR23281;PANTHER:PTHR23281:SF26;Superfamily:SSF48678;Gene3D:1.25.40.1020;PIRSF:PIRSF002305;Pfam:PF00769",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CCCTGCGCCAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3845195","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HEPH",9843,"BI","GRCh38","chrX",66256277,66256277,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2843C>T","p.Pro948Leu","p.P948L","ENST00000343002","16/20",89,65,23,167,null,null,"HEPH,missense_variant,p.P1002L,ENST00000519389,NM_138737.5,c.3005C>T,MODERATE,YES,deleterious(0.03),benign(0.367),1;HEPH,missense_variant,p.P948L,ENST00000343002,,c.2843C>T,MODERATE,,deleterious(0.03),benign(0.077),1;HEPH,missense_variant,p.P951L,ENST00000441993,NM_001367232.2&NM_001367233.2&NM_001367240.2&NM_001367238.2&NM_001367236.2&NM_001130860.4&NM_001367241.1&NM_001367239.1&NM_001367234.1,c.2852C>T,MODERATE,,deleterious(0.03),benign(0.007),1;HEPH,missense_variant,p.P681L,ENST00000336279,NM_001367242.2&NM_014799.4,c.2042C>T,MODERATE,,deleterious(0.03),benign(0.077),1;HEPH,missense_variant,p.P759L,ENST00000419594,NM_001282141.2&NM_001367243.2,c.2276C>T,MODERATE,,deleterious(0.02),benign(0.359),1","T","ENSG00000089472","ENST00000343002","Transcript","missense_variant","missense_variant","3507/4854","2843/3477","948/1158","P/L","cCa/cTa","COSV100294524;COSV57960255;COSV57965431",null,1,"HEPH","HGNC","HGNC:4866","protein_coding",null,null,"ENSP00000343939","Q9BQS7.162","Q1HE23.100","UPI000004D26F","Q9BQS7-1",null,null,"A1",null,"deleterious(0.03)","benign(0.077)","16/20",null,"Gene3D:2.60.40.420;PANTHER:PTHR11709;PANTHER:PTHR11709:SF221;Superfamily:SSF49503",{"$nulls":33},"1;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1;1",null,"GGATCCAGGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4110618;COSM4110619","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDX4",1046,"BI","GRCh38","chrX",73447350,73447350,"+","Missense_Mutation","SNP","G","G","T","rs940984524",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.97G>T","p.Gly33Trp","p.G33W","ENST00000373514","2024-01-03",47,42,5,54,null,null,"CDX4,missense_variant,p.G33W,ENST00000373514,NM_005193.1,c.97G>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.995),1","T","ENSG00000131264","ENST00000373514","Transcript","missense_variant","missense_variant","97/1515","97/855","33/284","G/W","Ggg/Tgg","rs940984524;COSV100999108",null,1,"CDX4","HGNC","HGNC:1808","protein_coding","YES","CCDS14424.1","ENSP00000362613","O14627.152",null,"UPI0000127473",null,"NM_005193.1",null,"P1",null,"deleterious(0.01)","probably_damaging(0.995)","2024-01-03",null,"Low_complexity_(Seg):seg;Pfam:PF04731;PANTHER:PTHR24332:SF15;PANTHER:PTHR24332",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCACAGGGGGC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAGEE1",57692,"BI","GRCh38","chrX",76430444,76430444,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2514G>C","p.Leu838Phe","p.L838F","ENST00000361470","2024-01-01",32,25,7,46,null,null,"MAGEE1,missense_variant,p.L838F,ENST00000361470,NM_020932.3,c.2514G>C,MODERATE,YES,deleterious(0),probably_damaging(0.986),1","C","ENSG00000198934","ENST00000361470","Transcript","missense_variant","missense_variant","2735/3633","2514/2874","838/957","L/F","ttG/ttC","COSV63909115",null,1,"MAGEE1","HGNC","HGNC:24934","protein_coding","YES","CCDS14433.1","ENSP00000354912","Q9HCI5.133",null,"UPI000006F138",null,"NM_020932.3","NM_020932.3","P1",null,"deleterious(0)","probably_damaging(0.986)","2024-01-01",null,"Gene3D:1.10.10.1210;Pfam:PF01454;PROSITE_profiles:PS50838;PANTHER:PTHR11736;PANTHER:PTHR11736:SF9;SMART:SM01373",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"TTTTTGATGCA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM422487;COSM422488","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATP7A",538,"BI","GRCh38","chrX",77989857,77989857,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1235T>C","p.Leu412Pro","p.L412P","ENST00000341514","2024-04-23",198,178,20,193,null,null,"ATP7A,missense_variant,p.L412P,ENST00000341514,NM_000052.7,c.1235T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ATP7A,missense_variant,p.L412P,ENST00000343533,NM_001282224.1,c.1235T>C,MODERATE,,deleterious(0),probably_damaging(1),1;PGK1,intron_variant,,ENST00000644362,,c.-20+79022T>C,MODIFIER,,,,1;ATP7A,3_prime_UTR_variant,,ENST00000645094,,c.*1149T>C,MODIFIER,,,,1","C","ENSG00000165240","ENST00000341514","Transcript","missense_variant","missense_variant","1399/8492","1235/4503","412/1500","L/P","cTt/cCt","COSV58443472",null,1,"ATP7A","HGNC","HGNC:869","protein_coding","YES","CCDS35339.1","ENSP00000345728","Q04656.227",null,"UPI000044D414","Q04656-1","NM_000052.7","NM_000052.7","P1",null,"deleterious(0)","probably_damaging(1)","2024-04-23",null,"PDB-ENSP_mappings:1aw0.A;PDB-ENSP_mappings:2aw0.A;Gene3D:3.30.70.100;Pfam:PF00403;PROSITE_patterns:PS01047;PROSITE_profiles:PS50846;PANTHER:PTHR43520;PANTHER:PTHR43520:SF23;Superfamily:SSF55008;TIGRFAM:TIGR00003;CDD:cd00371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTCCCTTGCAA","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4111195;COSM4111196","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["P2RY10",27334,"BI","GRCh38","chrX",78961367,78961367,"+","Missense_Mutation","SNP","G","G","A","rs746304449",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.847G>A","p.Ala283Thr","p.A283T","ENST00000171757","2024-04-04",294,259,35,440,null,null,"P2RY10,missense_variant,p.A283T,ENST00000171757,NM_001324225.2&NM_014499.4&NM_001324221.2&NM_001324218.2,c.847G>A,MODERATE,YES,tolerated(0.93),benign(0),1;P2RY10,missense_variant,p.A283T,ENST00000544091,NM_198333.2,c.847G>A,MODERATE,,tolerated(0.93),benign(0),1;P2RY10,downstream_gene_variant,,ENST00000461541,,,MODIFIER,,,,1;P2RY10,downstream_gene_variant,,ENST00000475374,,,MODIFIER,,,,1","A","ENSG00000078589","ENST00000171757","Transcript","missense_variant","missense_variant","1157/3517","847/1020","283/339","A/T","Gca/Aca","rs746304449;COSV50680309",null,1,"P2RY10","HGNC","HGNC:19906","protein_coding","YES","CCDS14442.1","ENSP00000171757","O00398.164",null,"UPI0000050471",null,"NM_001324225.2;NM_014499.4;NM_001324221.2;NM_001324218.2","NM_014499.4","P1",null,"tolerated(0.93)","benign(0)","2024-04-04",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15153;PANTHER:PTHR24232;PANTHER:PTHR24232:SF47;Gene3D:1.20.1070.10;Pfam:PF00001;Superfamily:SSF81321",{"$nulls":8},"1.64e-05",0,"3.646e-05",0,0,0,"2.453e-05",0,0,"3.646e-05","gnomAD_AMR","1.845070073613897e-05",0,0,0.000193031999515369,0,0,0,0,0,0,0,0.000193031999515369,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GAATCGCACTG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM1469554","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBX22",50945,"BI","GRCh38","chrX",80024119,80024119,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.413A>G","p.Tyr138Cys","p.Y138C","ENST00000373294","2024-03-08",108,97,10,233,null,null,"TBX22,missense_variant,p.Y138C,ENST00000373296,NM_001109878.2&NM_001109879.2,c.413A>G,MODERATE,YES,deleterious(0),probably_damaging(1),1;TBX22,missense_variant,p.Y138C,ENST00000373294,NM_016954.2&NM_001303475.1,c.413A>G,MODERATE,,deleterious(0),probably_damaging(1),1;TBX22,non_coding_transcript_exon_variant,,ENST00000626877,,n.292A>G,MODIFIER,,,,1;TBX22,3_prime_UTR_variant,,ENST00000626498,,c.*25A>G,MODIFIER,,,,1;TBX22,downstream_gene_variant,,ENST00000476373,,,MODIFIER,,,,1","G","ENSG00000122145","ENST00000373294","Transcript","missense_variant","missense_variant","441/2249","413/1563","138/520","Y/C","tAc/tGc","COSV64785168",null,1,"TBX22","HGNC","HGNC:11600","protein_coding",null,"CCDS14445.1","ENSP00000362390","Q9Y458.175",null,"UPI00001377ED","Q9Y458-1","NM_016954.2;NM_001303475.1",null,"P1",null,"deleterious(0)","probably_damaging(1)","2024-03-08",null,"CDD:cd00182;Pfam:PF00907;Gene3D:2.60.40.820;SMART:SM00425;Superfamily:SSF49417;PROSITE_profiles:PS50252;PANTHER:PTHR11267:SF116;PANTHER:PTHR11267",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GCAGTACCATG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4111255","N","Unknown",{"$nulls":3},"muse;mutect2"]
["BRWD3",254065,"BI","GRCh38","chrX",80703554,80703554,"+","Nonsense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2761G>T","p.Glu921Ter","p.E921*","ENST00000373275","24/41",31,25,6,44,null,null,"BRWD3,stop_gained,p.E921*,ENST00000373275,NM_153252.5,c.2761G>T,HIGH,YES,,,-1;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,,n.897G>T,MODIFIER,,,,-1","A","ENSG00000165288","ENST00000373275","Transcript","stop_gained","stop_gained","3167/12921","2761/5409","921/1802","E/*","Gaa/Taa","COSV100955704",null,-1,"BRWD3","HGNC","HGNC:17342","protein_coding","YES","CCDS14447.1","ENSP00000362372","Q6RI45.137",null,"UPI000045785B","Q6RI45-1","NM_153252.5","NM_153252.5","P1",{"$nulls":3},"24/41",null,"PANTHER:PTHR16266;PANTHER:PTHR16266:SF25",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"CCATTCTTCAT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CPXCR1",53336,"BI","GRCh38","chrX",88753423,88753423,"+","Nonsense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.9T>A","p.Tyr3Ter","p.Y3*","ENST00000276127","2024-03-03",16,12,4,20,null,null,"CPXCR1,stop_gained,p.Y3*,ENST00000276127,NM_033048.6,c.9T>A,HIGH,YES,,,1;CPXCR1,stop_gained,p.Y3*,ENST00000373111,NM_001184771.1,c.9T>A,HIGH,,,,1;CPXCR1,stop_gained,p.Y3*,ENST00000614120,,c.9T>A,HIGH,,,,1","A","ENSG00000147183","ENST00000276127","Transcript","stop_gained","stop_gained","268/1626","9/906","3/301","Y/*","taT/taA","COSV52161359",null,1,"CPXCR1","HGNC","HGNC:2332","protein_coding","YES","CCDS14458.1","ENSP00000276127","Q8N123.121",null,"UPI000007369F",null,"NM_033048.6","NM_033048.6","P1",{"$nulls":3},"2024-03-03",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR42213",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"AGTTATCCTAC","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4111478","N","Unknown",{"$nulls":3},"muse;mutect2"]
["HTATSF1",27336,"BI","GRCh38","chrX",136499655,136499655,"+","Missense_Mutation","SNP","G","G","A","rs1477426617",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.244G>A","p.Ala82Thr","p.A82T","ENST00000218364","2024-02-09",206,181,25,354,null,null,"HTATSF1,missense_variant,p.A82T,ENST00000535601,NM_001163280.1,c.244G>A,MODERATE,YES,tolerated(0.06),benign(0.037),1;HTATSF1,missense_variant,p.A82T,ENST00000218364,NM_014500.5,c.244G>A,MODERATE,,tolerated(0.06),benign(0.037),1;HTATSF1,missense_variant,p.A82T,ENST00000448450,,c.244G>A,MODERATE,,tolerated(0.45),benign(0.037),1;HTATSF1,missense_variant,p.A82T,ENST00000425695,,c.244G>A,MODERATE,,tolerated(0.43),benign(0.037),1","A","ENSG00000102241","ENST00000218364","Transcript","missense_variant","missense_variant","337/2694","244/2268","82/755","A/T","Gca/Aca","rs1477426617;COSV54477632",null,1,"HTATSF1","HGNC","HGNC:5276","protein_coding",null,"CCDS14657.1","ENSP00000218364","O43719.183",null,"UPI000006D876",null,"NM_014500.5","NM_014500.5","P1",null,"tolerated(0.06)","benign(0.037)","2024-02-09",null,"PANTHER:PTHR15608",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"ATGGCGCATCT","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM3231627","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FMR1",2332,"BI","GRCh38","chrX",147944955,147944955,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.1558G>A","p.Glu520Lys","p.E520K","ENST00000370475","15/17",23,20,3,35,null,null,"FMR1,missense_variant,p.E520K,ENST00000370475,NM_002024.6,c.1558G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.951),1;FMR1,missense_variant,p.E499K,ENST00000218200,NM_001185076.1,c.1495G>A,MODERATE,,deleterious(0.04),benign(0.364),1;FMR1,missense_variant,p.E474K,ENST00000440235,NM_001185082.2,c.1420G>A,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.525),1;FMR1,missense_variant,p.E497K,ENST00000439526,,c.1489G>A,MODERATE,,tolerated(0.05),benign(0.443),1;FMR1,missense_variant,p.E487K,ENST00000370477,,c.1459G>A,MODERATE,,tolerated_low_confidence(0.07),possibly_damaging(0.515),1;FMR1,missense_variant,p.E454K,ENST00000621453,,c.1360G>A,MODERATE,,tolerated(0.12),benign(0.131),1;FMR1,missense_variant,p.E495K,ENST00000370470,,c.1483G>A,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.969),1;FMR1,missense_variant,p.E57K,ENST00000463120,,c.169G>A,MODERATE,,deleterious(0.01),probably_damaging(0.992),1;FMR1,synonymous_variant,p.R429=,ENST00000370471,NM_001185081.2&NM_001185075.1,c.1287G>A,LOW,,,,1;FMR1,intron_variant,,ENST00000616382,,c.1239-585G>A,MODIFIER,,,,1;FMR1,non_coding_transcript_exon_variant,,ENST00000620828,,n.2214G>A,MODIFIER,,,,1;FMR1,non_coding_transcript_exon_variant,,ENST00000478848,,n.263G>A,MODIFIER,,,,1;FMR1,downstream_gene_variant,,ENST00000492846,,,MODIFIER,,,,1;FMR1,downstream_gene_variant,,ENST00000611273,,,MODIFIER,,,,1;FMR1-IT1,upstream_gene_variant,,ENST00000441414,,,MODIFIER,YES,,,1","A","ENSG00000102081","ENST00000370475","Transcript","missense_variant","missense_variant","1819/4441","1558/1899","520/632","E/K","Gaa/Aaa","COSV54422258",null,1,"FMR1","HGNC","HGNC:3775","protein_coding","YES","CCDS14682.1","ENSP00000359506","Q06787.215",null,"UPI000012AACA","Q06787-1","NM_002024.6","NM_002024.6","P3",null,"deleterious(0.03)","probably_damaging(0.951)","15/17",null,"Pfam:PF12235;PANTHER:PTHR10603;PANTHER:PTHR10603:SF4;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAGAGGAAGAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4107281","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ATP2B3",492,"BI","GRCh38","chrX",153558184,153558184,"+","Missense_Mutation","SNP","G","G","A","rs1221371446",null,"TCGA-BR-8284","TCGA-BR-8284-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e07f553-454d-480d-8ae8-69c085d95ace","cb783f9c-9839-4d69-a4f5-56988bcb8b32","c.2506G>A","p.Val836Ile","p.V836I","ENST00000263519","15/20",118,81,37,228,null,null,"ATP2B3,missense_variant,p.V822I,ENST00000370186,,c.2464G>A,MODERATE,,deleterious(0),probably_damaging(0.987),1;ATP2B3,missense_variant,p.V836I,ENST00000263519,NM_001001344.2,c.2506G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.822),1;ATP2B3,missense_variant,p.V836I,ENST00000349466,,c.2506G>A,MODERATE,,deleterious(0),possibly_damaging(0.822),1;ATP2B3,missense_variant,p.V836I,ENST00000359149,NM_021949.3,c.2506G>A,MODERATE,,deleterious(0),probably_damaging(0.945),1;ATP2B3,missense_variant,p.V822I,ENST00000393842,,c.2464G>A,MODERATE,,deleterious(0),probably_damaging(0.93),1;ATP2B3,non_coding_transcript_exon_variant,,ENST00000460549,,n.151G>A,MODIFIER,,,,1","A","ENSG00000067842","ENST00000263519","Transcript","missense_variant","missense_variant","2632/6420","2506/3663","836/1220","V/I","Gtc/Atc","rs1221371446;COSV54841944",null,1,"ATP2B3","HGNC","HGNC:816","protein_coding","YES","CCDS35440.1","ENSP00000263519","Q16720.197",null,"UPI00001AE881","Q16720-1","NM_001001344.2",null,"P1",null,"deleterious(0)","possibly_damaging(0.822)","15/20",null,"Gene3D:1.20.1110.10;Gene3D:3.40.50.1000;Pfam:PF08282;PANTHER:PTHR24093;PANTHER:PTHR24093:SF284;SFLD:SFLDF00027;SFLD:SFLDS00003;Superfamily:SSF56784;Superfamily:SSF81665;TIGRFAM:TIGR01494;TIGRFAM:TIGR01517;CDD:cd02081",{"$nulls":8},"5.461e-06",0,0,0,0,0,0,0,"5.25e-05","5.25e-05","gnomAD_SAS","9.204290108755231e-06","3.28958012687508e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GCATCGTCAAG","af2c0fe8-7d6a-463c-b7aa-a20605f54514","b8d934d4-08af-4a0a-9a8b-2fccbb5887ee","a89e46f4-4808-41e5-a047-acebf8744eb7",null,"COSM4107754;COSM4107755;COSM4107756;COSM4107757","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC27",148870,"BI","GRCh38","chr1",3763292,3763292,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.1139G>T","p.Arg380Met","p.R380M","ENST00000294600","2024-07-12",18,14,4,26,null,null,"CCDC27,missense_variant,p.R380M,ENST00000294600,NM_152492.3,c.1139G>T,MODERATE,YES,tolerated(0.09),benign(0.003),1;CCDC27,3_prime_UTR_variant,,ENST00000462521,,c.*652G>T,MODIFIER,,,,1","T","ENSG00000162592","ENST00000294600","Transcript","missense_variant","missense_variant","1171/2125","1139/1971","380/656","R/M","aGg/aTg","COSV53901160",null,1,"CCDC27","HGNC","HGNC:26546","protein_coding","YES","CCDS50.1","ENSP00000294600","Q2M243.99",null,"UPI000013E186",null,"NM_152492.3","NM_152492.3","P1",null,"tolerated(0.09)","benign(0.003)","2024-07-12",null,"PANTHER:PTHR18853:SF9;PANTHER:PTHR18853;Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGACAGGGATG","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM398529","N","Unknown",{"$nulls":3},"muse;mutect2"]
["AMPD1",270,"BI","GRCh38","chr1",114675986,114675986,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.1505A>C","p.Lys502Thr","p.K502T","ENST00000520113","2024-11-16",111,100,11,150,null,null,"AMPD1,missense_variant,p.K498T,ENST00000369538,NM_001172626.1,c.1493A>C,MODERATE,,tolerated(0.08),possibly_damaging(0.759),-1;AMPD1,missense_variant,p.K502T,ENST00000520113,NM_000036.3,c.1505A>C,MODERATE,YES,tolerated(0.08),probably_damaging(0.948),-1;AMPD1,non_coding_transcript_exon_variant,,ENST00000639077,,n.1071A>C,MODIFIER,,,,-1;AMPD1,non_coding_transcript_exon_variant,,ENST00000638214,,n.253A>C,MODIFIER,,,,-1;AMPD1,non_coding_transcript_exon_variant,,ENST00000639274,,n.36A>C,MODIFIER,,,,-1;AMPD1,3_prime_UTR_variant,,ENST00000637080,,c.*613A>C,MODIFIER,,,,-1;AMPD1,downstream_gene_variant,,ENST00000485564,,,MODIFIER,,,,-1","G","ENSG00000116748","ENST00000520113","Transcript","missense_variant","missense_variant","1521/2375","1505/2343","502/780","K/T","aAg/aCg","COSV62416774",null,-1,"AMPD1","HGNC","HGNC:468","protein_coding","YES","CCDS876.2","ENSP00000430075","P23109.180",null,"UPI0000470A27","P23109-1","NM_000036.3",null,"P4",null,"tolerated(0.08)","probably_damaging(0.948)","2024-11-16",null,"Superfamily:SSF51556;TIGRFAM:TIGR01429;Gene3D:3.20.20.140;Pfam:PF00962;PIRSF:PIRSF001251;PANTHER:PTHR11359;PANTHER:PTHR11359:SF1;CDD:cd01319",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AATTCTTGGAA","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4020904;COSM4020905","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PPIAL4G",644591,"BI","GRCh38","chr1",148483000,148483000,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.253G>T","p.Asp85Tyr","p.D85Y","ENST00000419275","2024-01-01",170,158,12,231,null,null,"PPIAL4G,missense_variant,p.D85Y,ENST00000419275,NM_001123068.3,c.253G>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(1),-1;LINC01138,intron_variant,,ENST00000639159,,n.107+15641G>T,MODIFIER,,,,-1;LINC01138,intron_variant,,ENST00000639181,,n.361+4744G>T,MODIFIER,,,,-1;LINC01138,intron_variant,,ENST00000653634,,n.127+15641G>T,MODIFIER,,,,-1;LINC01138,intron_variant,,ENST00000658866,,n.117+15641G>T,MODIFIER,,,,-1;LINC01138,intron_variant,,ENST00000658938,,n.99+15641G>T,MODIFIER,,,,-1","A","ENSG00000236334","ENST00000419275","Transcript","missense_variant","missense_variant","303/755","253/495","85/164","D/Y","Gat/Tat","COSV70087034",null,-1,"PPIAL4G","HGNC","HGNC:33996","protein_coding","YES","CCDS41375.2","ENSP00000393845","P0DN37.31",null,"UPI0000197DBC",null,"NM_001123068.3","NM_001123068.3","P1",null,"deleterious_low_confidence(0)","probably_damaging(1)","2024-01-01",null,"Superfamily:SSF50891;Pfam:PF00160;PIRSF:PIRSF001467;Gene3D:2.40.100.10;PANTHER:PTHR11071;PANTHER:PTHR11071:SF466;PROSITE_profiles:PS50072",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CTCATCATCAA","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4021575","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR6K3",391114,"BI","GRCh38","chr1",158717869,158717869,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.295T>C","p.Ser99Pro","p.S99P","ENST00000368146","2024-01-01",211,201,10,287,null,null,"OR6K3,missense_variant,p.S83P,ENST00000368145,NM_001005327.2,c.247T>C,MODERATE,,deleterious(0.01),possibly_damaging(0.836),-1;OR6K3,missense_variant,p.S99P,ENST00000368146,,c.295T>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.836),-1","G","ENSG00000203757","ENST00000368146","Transcript","missense_variant","missense_variant","295/996","295/996","99/331","S/P","Tcc/Ccc","COSV63745835",null,-1,"OR6K3","HGNC","HGNC:15030","protein_coding","YES",null,"ENSP00000357128","Q8NGY3.145",null,"UPI000004B220",{"$nulls":5},"deleterious(0.01)","possibly_damaging(0.836)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF956;Superfamily:SSF81321;CDD:cd15914",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"GTTGGAGAGCA","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4023841","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CRP",1401,"BI","GRCh38","chr1",159713581,159713581,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.619G>A","p.Ala207Thr","p.A207T","ENST00000255030","2024-02-02",129,116,13,132,null,null,"CRP,missense_variant,p.A207T,ENST00000255030,NM_001329057.2&NM_000567.3,c.619G>A,MODERATE,YES,tolerated(0.16),benign(0.155),-1;CRP,missense_variant,p.A29T,ENST00000437342,,c.85G>A,MODERATE,,tolerated(0.18),benign(0.155),-1;CRP,missense_variant,p.A74T,ENST00000368112,NM_001329058.2,c.220G>A,MODERATE,,tolerated(0.94),benign(0.009),-1;CRP,missense_variant,p.A85T,ENST00000368110,NM_001382703.1,c.253G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.007),-1;CRP,missense_variant,p.A85T,ENST00000368111,,c.253G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.007),-1;CRP,non_coding_transcript_exon_variant,,ENST00000473196,,n.187G>A,MODIFIER,,,,-1;CRP,intron_variant,,ENST00000489317,,n.74+426G>A,MODIFIER,,,,-1","T","ENSG00000132693","ENST00000255030","Transcript","missense_variant","missense_variant","723/2015","619/675","207/224","A/T","Gca/Aca","COSV54813862;COSV54814971",null,-1,"CRP","HGNC","HGNC:2367","protein_coding","YES","CCDS30911.1","ENSP00000255030","P02741.228",null,"UPI0000128478","P02741-1","NM_001329057.2;NM_000567.3","NM_000567.3","P1",null,"tolerated(0.16)","benign(0.155)","2024-02-02",null,"PDB-ENSP_mappings:1b09.A;PDB-ENSP_mappings:1b09.B;PDB-ENSP_mappings:1b09.C;PDB-ENSP_mappings:1b09.D;PDB-ENSP_mappings:1b09.E;PDB-ENSP_mappings:1gnh.A;PDB-ENSP_mappings:1gnh.B;PDB-ENSP_mappings:1gnh.C;PDB-ENSP_mappings:1gnh.D;PDB-ENSP_mappings:1gnh.E;PDB-ENSP_mappings:1gnh.F;PDB-ENSP_mappings:1gnh.G;PDB-ENSP_mappings:1gnh.H;PDB-ENSP_mappings:1gnh.I;PDB-ENSP_mappings:1gnh.J;PDB-ENSP_mappings:1lj7.A;PDB-ENSP_mappings:1lj7.B;PDB-ENSP_mappings:1lj7.C;PDB-ENSP_mappings:1lj7.D;PDB-ENSP_mappings:1lj7.E;PDB-ENSP_mappings:1lj7.F;PDB-ENSP_mappings:1lj7.G;PDB-ENSP_mappings:1lj7.H;PDB-ENSP_mappings:1lj7.I;PDB-ENSP_mappings:1lj7.J;Gene3D:2.60.120.200;PDB-ENSP_mappings:3l2y.A;PDB-ENSP_mappings:3l2y.B;PDB-ENSP_mappings:3l2y.C;PDB-ENSP_mappings:3l2y.D;PDB-ENSP_mappings:3l2y.E;PDB-ENSP_mappings:3l2y.F;PDB-ENSP_mappings:3l2y.G;PDB-ENSP_mappings:3l2y.H;PDB-ENSP_mappings:3l2y.I;PDB-ENSP_mappings:3l2y.J;PDB-ENSP_mappings:3l2y.K;PDB-ENSP_mappings:3l2y.L;PDB-ENSP_mappings:3l2y.M;PDB-ENSP_mappings:3l2y.N;PDB-ENSP_mappings:3l2y.O;PDB-ENSP_mappings:3l2y.P;PDB-ENSP_mappings:3l2y.Q;PDB-ENSP_mappings:3l2y.R;PDB-ENSP_mappings:3l2y.S;PDB-ENSP_mappings:3l2y.T;PDB-ENSP_mappings:3pvn.A;PDB-ENSP_mappings:3pvn.B;PDB-ENSP_mappings:3pvn.C;PDB-ENSP_mappings:3pvn.D;PDB-ENSP_mappings:3pvn.E;PDB-ENSP_mappings:3pvn.F;PDB-ENSP_mappings:3pvn.G;PDB-ENSP_mappings:3pvn.H;PDB-ENSP_mappings:3pvn.I;PDB-ENSP_mappings:3pvn.J;PDB-ENSP_mappings:3pvn.K;PDB-ENSP_mappings:3pvn.L;PDB-ENSP_mappings:3pvn.M;PDB-ENSP_mappings:3pvn.N;PDB-ENSP_mappings:3pvn.O;PDB-ENSP_mappings:3pvn.P;PDB-ENSP_mappings:3pvn.Q;PDB-ENSP_mappings:3pvn.R;PDB-ENSP_mappings:3pvn.S;PDB-ENSP_mappings:3pvn.T;PDB-ENSP_mappings:3pvo.A;PDB-ENSP_mappings:3pvo.B;PDB-ENSP_mappings:3pvo.C;PDB-ENSP_mappings:3pvo.D;PDB-ENSP_mappings:3pvo.E;PDB-ENSP_mappings:3pvo.F;PDB-ENSP_mappings:3pvo.G;PDB-ENSP_mappings:3pvo.H;PDB-ENSP_mappings:3pvo.I;PDB-ENSP_mappings:3pvo.J;PDB-ENSP_mappings:3pvo.K;PDB-ENSP_mappings:3pvo.L;PDB-ENSP_mappings:3pvo.M;PDB-ENSP_mappings:3pvo.N;PDB-ENSP_mappings:3pvo.O;PDB-ENSP_mappings:3pvo.P;PDB-ENSP_mappings:3pvo.Q;PDB-ENSP_mappings:3pvo.R;PDB-ENSP_mappings:3pvo.S;PDB-ENSP_mappings:3pvo.T;Pfam:PF00354;Prints:PR00895;PROSITE_profiles:PS51828;PANTHER:PTHR45869;PANTHER:PTHR45869:SF3;SMART:SM00159;Superfamily:SSF49899;CDD:cd00152",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"CAGTGCCCGCC","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4023981","N","Unknown",{"$nulls":3},"muse;varscan2"]
["TNNI1",7135,"BI","GRCh38","chr1",201411439,201411439,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.374G>C","p.Arg125Pro","p.R125P","ENST00000336092","2024-10-12",41,35,6,42,null,null,"TNNI1,missense_variant,p.R125P,ENST00000622580,,c.374G>C,MODERATE,YES,deleterious(0.02),probably_damaging(0.996),-1;TNNI1,missense_variant,p.R125P,ENST00000361379,NM_003281.4,c.374G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;TNNI1,missense_variant,p.R125P,ENST00000336092,,c.374G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;TNNI1,missense_variant,p.R125P,ENST00000367312,,c.374G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;TNNI1,missense_variant,p.R125P,ENST00000556362,,c.374G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;TNNI1,missense_variant,p.R104P,ENST00000555340,,c.311G>C,MODERATE,,deleterious(0.02),probably_damaging(0.998),-1;TNNI1,intron_variant,,ENST00000555948,,c.253-1046G>C,MODIFIER,,,,-1","G","ENSG00000159173","ENST00000336092","Transcript","missense_variant","missense_variant","1171/1750","374/564","125/187","R/P","cGg/cCg","COSV60189821",null,-1,"TNNI1","HGNC","HGNC:11945","protein_coding",null,"CCDS1411.1","ENSP00000337022","P19237.163",null,"UPI0000000CCA",{"$nulls":3},"P4",null,"deleterious(0.02)","probably_damaging(0.998)","2024-10-12",null,"Gene3D:1.20.5.350;Pfam:PF00992;PANTHER:PTHR13738;PANTHER:PTHR13738:SF9;Superfamily:SSF90250",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GGGCCCGGAGC","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4026938","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FMN2",56776,"BI","GRCh38","chr1",240207573,240207573,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.2762del","p.Pro921LeufsTer354","p.P921Lfs*354","ENST00000319653","2024-05-18",142,126,16,117,null,null,"FMN2,frameshift_variant,p.P921Lfs*354,ENST00000319653,NM_001305424.2&NM_020066.5&NM_001348094.2,c.2762del,HIGH,YES,,,1;FMN2,downstream_gene_variant,,ENST00000447095,,,MODIFIER,,,,1","-","ENSG00000155816","ENST00000319653","Transcript","frameshift_variant","frameshift_variant","2988/6429","2761/5169","921/1722","P/X","Cct/ct","COSV60455969",null,1,"FMN2","HGNC","HGNC:14074","protein_coding","YES","CCDS31069.2","ENSP00000318884","Q9NZ56.162",null,"UPI00015FA087","Q9NZ56-1","NM_001305424.2;NM_020066.5;NM_001348094.2","NM_020066.5","P1",{"$nulls":3},"2024-05-18",null,"Prints:PR01217;PANTHER:PTHR13037;PANTHER:PTHR13037:SF16;SMART:SM00498;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",5,1,1,1,"GGCATACCTCCT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["OR2M2",391194,"BI","GRCh38","chr1",248180703,248180703,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.718A>T","p.Thr240Ser","p.T240S","ENST00000359682","2024-01-01",314,291,23,373,null,null,"OR2M2,missense_variant,p.T240S,ENST00000641211,,c.718A>T,MODERATE,YES,deleterious(0.03),probably_damaging(0.982),1;OR2M2,missense_variant,p.T240S,ENST00000641836,,c.718A>T,MODERATE,,deleterious(0.03),probably_damaging(0.982),1;OR2M2,missense_variant,p.T240S,ENST00000359682,NM_001004688.1,c.718A>T,MODERATE,,deleterious(0.03),probably_damaging(0.982),1","T","ENSG00000198601","ENST00000359682","Transcript","missense_variant","missense_variant","718/1044","718/1044","240/347","T/S","Acc/Tcc","COSV62898650",null,1,"OR2M2","HGNC","HGNC:8268","protein_coding",null,"CCDS31106.1","ENSP00000352710","Q96R28.145","A0A126GWI7.35","UPI00001612E4",null,"NM_001004688.1",null,"P1",null,"deleterious(0.03)","probably_damaging(0.982)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00245;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF639;SMART:SM01381;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15421",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TCACGACCTGT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4030707","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR2M4",26245,"BI","GRCh38","chr1",248239575,248239575,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.647T>G","p.Leu216Arg","p.L216R","ENST00000641868","2024-02-02",90,82,8,87,null,null,"OR2M4,missense_variant,p.L216R,ENST00000641868,NM_017504.1,c.647T>G,MODERATE,YES,deleterious(0),benign(0.034),1","G","ENSG00000171180","ENST00000641868","Transcript","missense_variant","missense_variant","830/5934","647/936","216/311","L/R","cTt/cGt","COSV60708597",null,1,"OR2M4","HGNC","HGNC:8270","protein_coding","YES","CCDS31108.1","ENSP00000492992","Q96R27.146","A0A126GV73.33","UPI000004B233",null,"NM_017504.1",null,"P1",null,"deleterious(0)","benign(0.034)","2024-02-02",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PROSITE_profiles:PS50262;PANTHER:PTHR26453;PANTHER:PTHR26453:SF91;SMART:SM01381;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15421",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"CATACTTTCCT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4030721","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OR14C36",127066,"BI","GRCh38","chr1",248349082,248349082,"+","Frame_Shift_Del","DEL","T","T","-","rs761899382",null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.315del","p.Phe105LeufsTer28","p.F105Lfs*28","ENST00000317861","2024-01-01",62,54,8,61,null,null,"OR14C36,frameshift_variant,p.F105Lfs*28,ENST00000317861,NM_001001918.1,c.315del,HIGH,YES,,,1","-","ENSG00000177174","ENST00000317861","Transcript","frameshift_variant","frameshift_variant","308/939","308/939","103/312","V/X","gTt/gt","rs761899382",null,1,"OR14C36","HGNC","HGNC:15026","protein_coding","YES","CCDS31112.1","ENSP00000324534","Q8NHC7.136",null,"UPI0000041CB1",null,"NM_001001918.1","NM_001001918.1","P1",{"$nulls":3},"2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF180;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd15227;Low_complexity_(Seg):seg",{"$nulls":8},"1.996e-05",0,0,0,0,0,"8.837e-06",0,0.0001308,0.0001308,"gnomAD_SAS","1.3584000043920241e-05","2.447500082780607e-05",0,0,0,0,0,0,0,0,0.000210704005439765,{"$nulls":11},"HIGH",1,"deletion",null,7,null,null,"TCGTGGTTTTTT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM253044","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["KCNF1",3754,"BI","GRCh38","chr2",10913382,10913382,"+","Missense_Mutation","SNP","G","G","A","rs1357532034",null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.956G>A","p.Arg319His","p.R319H","ENST00000295082","2024-01-01",66,60,6,62,null,null,"KCNF1,missense_variant,p.R319H,ENST00000295082,NM_002236.5,c.956G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.52),1","A","ENSG00000162975","ENST00000295082","Transcript","missense_variant","missense_variant","1449/2292","956/1485","319/494","R/H","cGc/cAc","rs1357532034;COSV54464136;COSV54465168",null,1,"KCNF1","HGNC","HGNC:6246","protein_coding","YES","CCDS1676.1","ENSP00000295082","Q9H3M0.153",null,"UPI000012DC98",null,"NM_002236.5","NM_002236.5","P1",null,"deleterious(0)","possibly_damaging(0.52)","2024-01-01",null,"Gene3D:1.10.287.70;Pfam:PF00520;Prints:PR00169;PANTHER:PTHR11537;PANTHER:PTHR11537:SF171;Superfamily:SSF81324",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","6.756939910701476e-06",0,0,0,0,0,0,0,"1.5428800907102413e-05",0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1;1",null,"CAAGCGCAGCT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4084155","N","Unknown",{"$nulls":3},"muse;mutect2"]
["OSBPL6",114880,"BI","GRCh38","chr2",178395513,178395513,"+","Missense_Mutation","SNP","G","G","A","rs759571487",null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.2759G>A","p.Arg920Gln","p.R920Q","ENST00000190611","25/25",91,80,11,84,null,null,"OSBPL6,missense_variant,p.R920Q,ENST00000190611,NM_032523.4,c.2759G>A,MODERATE,,deleterious(0),probably_damaging(0.959),1;OSBPL6,missense_variant,p.R884Q,ENST00000359685,NM_001201482.1,c.2651G>A,MODERATE,,deleterious(0),possibly_damaging(0.867),1;OSBPL6,missense_variant,p.R945Q,ENST00000392505,NM_001201480.2,c.2834G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;OSBPL6,missense_variant,p.R889Q,ENST00000409045,NM_001201481.2,c.2666G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;OSBPL6,missense_variant,p.R884Q,ENST00000409631,,c.2651G>A,MODERATE,,deleterious(0),possibly_damaging(0.867),1;OSBPL6,missense_variant,p.R924Q,ENST00000315022,NM_145739.3,c.2771G>A,MODERATE,,deleterious(0),probably_damaging(0.994),1","A","ENSG00000079156","ENST00000190611","Transcript","missense_variant","missense_variant","3272/10652","2759/2805","920/934","R/Q","cGa/cAa","rs759571487;COSV51913807",null,1,"OSBPL6","HGNC","HGNC:16388","protein_coding",null,"CCDS2277.1","ENSP00000190611","Q9BZF3.161",null,"UPI0000130E97","Q9BZF3-1","NM_032523.4","NM_032523.4","A1",null,"deleterious(0)","probably_damaging(0.959)","25/25",null,"PANTHER:PTHR10972;PANTHER:PTHR10972:SF76;Gene3D:1.20.120.1290;Superfamily:SSF144000",{"$nulls":8},"1.193e-05",0,"2.894e-05",0,"5.437e-05",0,"8.795e-06",0,0,"5.437e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCTTCGAAAGG","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM2895310;COSM2895311;COSM3425518","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ERBB4",2066,"BI","GRCh38","chr2",211387029,211387029,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.3305T>G","p.Phe1102Cys","p.F1102C","ENST00000342788","27/28",125,114,11,127,null,null,"ERBB4,missense_variant,p.F1102C,ENST00000342788,NM_005235.3,c.3305T>G,MODERATE,YES,tolerated(0.11),benign(0),-1;ERBB4,missense_variant,p.F1086C,ENST00000436443,NM_001042599.1,c.3257T>G,MODERATE,,tolerated(0.13),benign(0.001),-1;ERBB4,missense_variant,p.F1060C,ENST00000402597,,c.3179T>G,MODERATE,,tolerated(0.18),benign(0.003),-1","C","ENSG00000178568","ENST00000342788","Transcript","missense_variant","missense_variant","3577/12097","3305/3927","1102/1308","F/C","tTt/tGt","COSV100728834;COSV61461348",null,-1,"ERBB4","HGNC","HGNC:3432","protein_coding","YES","CCDS2394.1","ENSP00000342235","Q15303.223",null,"UPI00000499DF","Q15303-1","NM_005235.3","NM_005235.3","P1",null,"tolerated(0.11)","benign(0)","27/28",null,"PIRSF:PIRSF000619;PANTHER:PTHR24416;PANTHER:PTHR24416:SF90",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CATCAAAAATC","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM3962315;COSM3962316","Y","Unknown",{"$nulls":3},"muse;mutect2"]
["SCN10A",6336,"BI","GRCh38","chr3",38726966,38726966,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.2727C>G","p.Asn909Lys","p.N909K","ENST00000449082","17/28",188,175,13,192,null,null,"SCN10A,missense_variant,p.N918K,ENST00000655275,,c.2754C>G,MODERATE,YES,tolerated(0.12),benign(0.089),-1;SCN10A,missense_variant,p.N909K,ENST00000449082,,c.2727C>G,MODERATE,,tolerated(0.13),benign(0.094),-1;SCN10A,missense_variant,p.N909K,ENST00000643924,NM_001293306.2,c.2727C>G,MODERATE,,tolerated(0.13),benign(0.073),-1;SCN10A,missense_variant,p.N909K,ENST00000643108,,c.2727C>G,MODERATE,,tolerated(0.12),benign(0.028),-1;SCN10A,missense_variant,p.N909K,ENST00000644826,NM_001293307.2&NM_006514.3,c.2727C>G,MODERATE,,tolerated(0.13),benign(0.094),-1","C","ENSG00000185313","ENST00000449082","Transcript","missense_variant","missense_variant","2940/6626","2727/5871","909/1956","N/K","aaC/aaG","COSV71861848;COSV71862794",null,-1,"SCN10A","HGNC","HGNC:10582","protein_coding",null,"CCDS33736.1","ENSP00000390600","Q9Y5Y9.161",null,"UPI0000209BDA",{"$nulls":3},"P4",null,"tolerated(0.13)","benign(0.094)","17/28",null,"Pfam:PF06512;PANTHER:PTHR10037;PANTHER:PTHR10037:SF208",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",1,"TGCAGGTTGTT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4117392","N","Unknown",{"$nulls":3},"muse;mutect2"]
["STAB1",23166,"BI","GRCh38","chr3",52522611,52522611,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.6667T>G","p.Phe2223Val","p.F2223V","ENST00000321725","61/69",122,106,16,129,null,null,"STAB1,missense_variant,p.F2223V,ENST00000321725,NM_015136.3,c.6667T>G,MODERATE,YES,deleterious(0),probably_damaging(0.986),1;NT5DC2,downstream_gene_variant,,ENST00000307076,NM_022908.3,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000422318,NM_001134231.2,,MODIFIER,YES,,,-1;NT5DC2,downstream_gene_variant,,ENST00000459839,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000463947,,,MODIFIER,,,,-1;STAB1,upstream_gene_variant,,ENST00000469989,,,MODIFIER,,,,1;NT5DC2,downstream_gene_variant,,ENST00000489316,,,MODIFIER,,,,-1;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,,n.1990T>G,MODIFIER,,,,1;STAB1,non_coding_transcript_exon_variant,,ENST00000462741,,n.902T>G,MODIFIER,,,,1;STAB1,non_coding_transcript_exon_variant,,ENST00000462681,,n.1044T>G,MODIFIER,,,,1;STAB1,downstream_gene_variant,,ENST00000461325,,,MODIFIER,,,,1;NT5DC2,downstream_gene_variant,,ENST00000462261,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000466112,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000469616,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000478091,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000479024,,,MODIFIER,,,,-1;NT5DC2,downstream_gene_variant,,ENST00000492555,,,MODIFIER,,,,-1","G","ENSG00000010327","ENST00000321725","Transcript","missense_variant","missense_variant","6743/7928","6667/7713","2223/2570","F/V","Ttt/Gtt","COSV58738481",null,1,"STAB1","HGNC","HGNC:18628","protein_coding","YES","CCDS33768.1","ENSP00000312946","Q9NY15.175",null,"UPI0000140C12",null,"NM_015136.3","NM_015136.3","P1",null,"deleterious(0)","probably_damaging(0.986)","61/69",null,"Gene3D:3.10.100.10;Pfam:PF00193;PROSITE_profiles:PS50963;PANTHER:PTHR24038;PANTHER:PTHR24038:SF8;SMART:SM00445;Superfamily:SSF56436",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGAACTTTTCG","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4119126","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HESX1",8820,"BI","GRCh38","chr3",57198429,57198429,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.421T>A","p.Leu141Ile","p.L141I","ENST00000295934","2024-03-04",54,47,7,55,null,null,"HESX1,missense_variant,p.L141I,ENST00000647958,NM_001376059.1&NM_001376058.1&NM_001376060.1&NM_001376061.1,c.421T>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;HESX1,missense_variant,p.L141I,ENST00000295934,NM_003865.3,c.421T>A,MODERATE,,deleterious(0),probably_damaging(1),-1;HESX1,intron_variant,,ENST00000473921,,c.358-134T>A,MODIFIER,,,,-1;HESX1,downstream_gene_variant,,ENST00000495160,,,MODIFIER,,,,-1","T","ENSG00000163666","ENST00000295934","Transcript","missense_variant","missense_variant","481/977","421/558","141/185","L/I","Tta/Ata","COSV55843381",null,-1,"HESX1","HGNC","HGNC:4877","protein_coding",null,"CCDS2881.1","ENSP00000295934","Q9UBX0.173","A1LQR0.3","UPI000012C61F",null,"NM_003865.3","NM_003865.3","P1",null,"deleterious(0)","probably_damaging(1)","2024-03-04",null,"PDB-ENSP_mappings:2k40.A;PROSITE_profiles:PS50071;CDD:cd00086;PANTHER:PTHR46966;PROSITE_patterns:PS00027;Gene3D:1.10.10.60;Pfam:PF00046;SMART:SM00389;Superfamily:SSF46689",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AGCTAAGTCTT","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4119527","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ATP13A5",344905,"BI","GRCh38","chr3",193285019,193285019,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8590","TCGA-BR-8590-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2040e830-a590-4b3b-a1e1-2addef74d2a3","974b3d0e-a371-4ac2-bf63-94ad2f7e6d44","c.3121A>G","p.Ser1041Gly","p.S1041G","ENST00000342358","27/30",66,59,7,79,null,null,"ATP13A5,missense_variant,p.S1041G,ENST00000342358,NM_198505.4,c.3121A>G,MODERATE,YES,tolerated(0.05),benign(0.082),-1;ATP13A5,upstream_gene_variant,,ENST00000620313,,,MODIFIER,,,,-1;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,,n.943A>G,MODIFIER,,,,-1","C","ENSG00000187527","ENST00000342358","Transcript","missense_variant","missense_variant","3149/3938","3121/3657","1041/1218","S/G","Agt/Ggt","COSV60870941",null,-1,"ATP13A5","HGNC","HGNC:31789","protein_coding","YES","CCDS33914.1","ENSP00000341942","Q4VNC0.121",null,"UPI000050EC1D",null,"NM_198505.4","NM_198505.4","P1",null,"tolerated(0.05)","benign(0.082)","27/30",null,"PANTHER:PTHR45630;PANTHER:PTHR45630:SF4;Superfamily:SSF81665;TIGRFAM:TIGR01657",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAAACTTAAAA","21ed1980-fec0-4ff2-bfda-eda01fff5de6","9a35d05f-fefe-4a9b-821f-093f11a8fea3","d59824bd-816e-4ffc-8aae-1c3eff1f800e",null,"COSM4116104","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FRG2C",100288801,"BI","GRCh38","chr3",75665151,75665151,"+","Missense_Mutation","SNP","A","A","T","novel",null,"TCGA-ZQ-A9CR","TCGA-ZQ-A9CR-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"833e42de-68a1-4be8-af56-47798d212b26","a1114c3b-4dc8-40d8-88af-97450867300f","c.282A>T","p.Glu94Asp","p.E94D","ENST00000308062","2024-03-04",125,96,29,109,null,null,"FRG2C,missense_variant,p.E94D,ENST00000308062,NM_001124759.3,c.282A>T,MODERATE,YES,tolerated(0.39),benign(0.015),1;FRG2C,missense_variant,p.E93D,ENST00000464571,,c.279A>T,MODERATE,,tolerated(0.32),benign(0.015),1;RPL23AP49,intron_variant,,ENST00000638439,,n.137+4869T>A,MODIFIER,YES,,,-1;DUX4L26,upstream_gene_variant,,ENST00000489078,,,MODIFIER,YES,,,1","T","ENSG00000172969","ENST00000308062","Transcript","missense_variant","missense_variant","332/2078","282/849","94/282","E/D","gaA/gaT",null,null,1,"FRG2C","HGNC","HGNC:33626","protein_coding","YES","CCDS43108.1","ENSP00000312299","A6NGY1.94",null,"UPI0000160BC9",null,"NM_001124759.3",null,"P4",null,"tolerated(0.39)","benign(0.015)","2024-03-04",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR31883;PANTHER:PTHR31883:SF6;Pfam:PF15315",{"$nulls":41},"MODERATE",1,"SNV",1,{"$nulls":3},"CAGGAAAACTG","009709e1-4771-46d1-941b-3c6ab097b6aa","b61df096-d351-4104-9e08-9ca35f29f8cf","f76122f7-343a-4345-9fb6-e46ad0b75cb0",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ALOX12",239,"BI","GRCh38","chr17",6999335,6999335,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-6456","TCGA-BR-6456-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"c612570a-881d-421f-98b9-0e4563133744","0adf6445-5470-4b30-923f-5028bdd471b3","c.676G>A","p.Glu226Lys","p.E226K","ENST00000251535","2024-06-14",74,53,21,112,null,null,"ALOX12,missense_variant,p.E226K,ENST00000251535,NM_000697.3,c.676G>A,MODERATE,YES,tolerated(0.69),benign(0.216),1;ALOX12,intron_variant,,ENST00000480801,,c.252-74G>A,MODIFIER,,,,1;ALOX12-AS1,non_coding_transcript_exon_variant,,ENST00000574377,,n.698C>T,MODIFIER,,,,-1;ALOX12-AS1,non_coding_transcript_exon_variant,,ENST00000571010,,n.532C>T,MODIFIER,,,,-1;ALOX12-AS1,intron_variant,,ENST00000399541,,n.233+10461C>T,MODIFIER,,,,-1;ALOX12-AS1,intron_variant,,ENST00000570562,,n.237+10461C>T,MODIFIER,,,,-1;ALOX12-AS1,intron_variant,,ENST00000572385,,n.230+10461C>T,MODIFIER,,,,-1;AC040977.2,intron_variant,,ENST00000572547,,n.451+10461C>T,MODIFIER,YES,,,-1;ALOX12-AS1,intron_variant,,ENST00000575889,,n.216+10461C>T,MODIFIER,,,,-1;ALOX12-AS1,intron_variant,,ENST00000653385,,n.139+12861C>T,MODIFIER,,,,-1;ALOX12-AS1,intron_variant,,ENST00000659418,,n.101+12861C>T,MODIFIER,,,,-1;ALOX12-AS1,downstream_gene_variant,,ENST00000399540,,,MODIFIER,,,,-1;AC040977.1,upstream_gene_variant,,ENST00000573222,,,MODIFIER,YES,,,-1;ALOX12-AS1,downstream_gene_variant,,ENST00000573939,,,MODIFIER,,,,-1;ALOX12-AS1,downstream_gene_variant,,ENST00000575727,,,MODIFIER,,,,-1;ALOX12-AS1,downstream_gene_variant,,ENST00000654550,,,MODIFIER,,,,-1","A","ENSG00000108839","ENST00000251535","Transcript","missense_variant","missense_variant","745/2392","676/1992","226/663","E/K","Gag/Aag","COSV52349686",null,1,"ALOX12","HGNC","HGNC:429","protein_coding","YES","CCDS11084.1","ENSP00000251535","P18054.207",null,"UPI000013CD03",null,"NM_000697.3","NM_000697.3","P1",null,"tolerated(0.69)","benign(0.216)","2024-06-14",null,"Gene3D:1.20.245.10;PDB-ENSP_mappings:3d3l.A;PDB-ENSP_mappings:3d3l.B;Pfam:PF00305;PROSITE_profiles:PS51393;PANTHER:PTHR11771;PANTHER:PTHR11771:SF4;Superfamily:SSF48484",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGATGAGTTG","f84cac14-88e1-48b0-bb8e-333e687e2b9c","1baa19b3-ed6a-4a18-86f2-917347748763","1ca3c5e0-32b0-4467-8ec0-ca212e35d2b3",null,"COSM4069104","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NUDT11",55190,"BI","GRCh38","chrX",51495985,51495985,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-AA68","TCGA-VQ-AA68-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"4c0287f3-3429-4e6f-b10f-1fdcd9336d0e","d49525b8-442c-4988-9142-e32f2e1d1d72","c.460T>C","p.Ser154Pro","p.S154P","ENST00000375992","2024-01-02",32,19,13,51,null,null,"NUDT11,missense_variant,p.S154P,ENST00000375992,NM_018159.4,c.460T>C,MODERATE,YES,tolerated(0.67),benign(0.001),-1;LINC01496,downstream_gene_variant,,ENST00000656579,,,MODIFIER,YES,,,-1","G","ENSG00000196368","ENST00000375992","Transcript","missense_variant","missense_variant","608/2381","460/495","154/164","S/P","Tcc/Ccc","COSV101047060",null,-1,"NUDT11","HGNC","HGNC:18011","protein_coding","YES","CCDS43952.1","ENSP00000365160","Q96G61.164",null,"UPI000007085D",null,"NM_018159.4","NM_018159.4","P1",null,"tolerated(0.67)","benign(0.001)","2024-01-02",null,"PANTHER:PTHR12629:SF35;PANTHER:PTHR12629",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CATGGAGTTTC","8caac9a3-6f1a-4a16-b811-faa346546304","f1592671-0cb9-4f16-865c-1407285efab8","3ff9b46b-325f-4655-ab40-953154753dae",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NKAIN2",154215,"BI","GRCh38","chr6",124818435,124818435,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-A91S","TCGA-VQ-A91S-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"6d3ef486-74be-45dc-a9fb-00f2ece55c9b","c9ce404e-491f-4be4-88d1-0d06248e1d86","c.584A>C","p.Lys195Thr","p.K195T","ENST00000368417","2024-06-07",71,55,16,76,null,null,"NKAIN2,missense_variant,p.K195T,ENST00000368417,NM_001300738.1&NM_153355.4&NM_001040214.3&NM_001300740.1,c.584A>C,MODERATE,YES,deleterious(0),probably_damaging(0.988),1;NKAIN2,missense_variant,p.K194T,ENST00000545433,NM_001300737.1,c.581A>C,MODERATE,,deleterious(0),probably_damaging(0.979),1;NKAIN2,missense_variant,p.K13T,ENST00000640160,,c.38A>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.979),1;RNF217-AS1,intron_variant,,ENST00000655205,,n.849-31905T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000656500,,n.1163+7793T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000658682,,n.677-31905T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000663550,,n.545-31905T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000663732,,n.736-31905T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000663792,,n.536-31905T>G,MODIFIER,,,,-1;RNF217-AS1,intron_variant,,ENST00000666728,,n.183-31905T>G,MODIFIER,,,,-1","C","ENSG00000188580","ENST00000368417","Transcript","missense_variant","missense_variant","920/3374","584/627","195/208","K/T","aAg/aCg","COSV63721791",null,1,"NKAIN2","HGNC","HGNC:16443","protein_coding","YES","CCDS34526.1","ENSP00000357402","Q5VXU1.121",null,"UPI0000458919","Q5VXU1-1","NM_001300738.1;NM_153355.4;NM_001040214.3;NM_001300740.1","NM_001040214.3","P1",null,"deleterious(0)","probably_damaging(0.988)","2024-06-07",null,"Pfam:PF05640;PANTHER:PTHR13084;PANTHER:PTHR13084:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"TCAGAAGACAT","b39f3597-89f1-4eae-b0ff-be1dbbb817bc","8f39941b-a457-467c-8f6a-dc94dbdf59ab","d22de643-5f93-42d0-9199-1f55405241d6",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPTLC3",55304,"BI","GRCh38","chr20",13126688,13126688,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-VQ-A91S","TCGA-VQ-A91S-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"6d3ef486-74be-45dc-a9fb-00f2ece55c9b","c9ce404e-491f-4be4-88d1-0d06248e1d86","c.1250T>G","p.Leu417Arg","p.L417R","ENST00000399002","2024-09-12",122,104,18,128,null,null,"SPTLC3,missense_variant,p.L417R,ENST00000399002,NM_018327.4&NM_001349945.2,c.1250T>G,MODERATE,YES,deleterious(0.02),benign(0.045),1;SPTLC3,missense_variant,p.L15R,ENST00000431275,,c.44T>G,MODERATE,,deleterious(0.01),benign(0.315),1;SPTLC3,non_coding_transcript_exon_variant,,ENST00000485952,,n.34T>G,MODIFIER,,,,1","G","ENSG00000172296","ENST00000399002","Transcript","missense_variant","missense_variant","1546/6191","1250/1659","417/552","L/R","cTt/cGt","COSV65463363",null,1,"SPTLC3","HGNC","HGNC:16253","protein_coding","YES","CCDS13115.2","ENSP00000381968","Q9NUV7.153",null,"UPI0000D6BFB5","Q9NUV7-1","NM_018327.4;NM_001349945.2","NM_018327.4","P1",null,"deleterious(0.02)","benign(0.045)","2024-09-12",null,"CDD:cd06454;PANTHER:PTHR13693;PANTHER:PTHR13693:SF56;Gene3D:3.90.1150.10;Pfam:PF00155;Gene3D:3.40.640.10;Superfamily:SSF53383",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAAACTTATCA","b39f3597-89f1-4eae-b0ff-be1dbbb817bc","8f39941b-a457-467c-8f6a-dc94dbdf59ab","d22de643-5f93-42d0-9199-1f55405241d6",null,"COSM1266775","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RBBP6",5930,"BI","GRCh38","chr16",24569431,24569431,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-VQ-A8PD","TCGA-VQ-A8PD-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"1246d4f5-3cc5-4ba5-a0b2-72e8bfe07623","c5384f06-ca10-4891-979a-22b2a28bec62","c.2741C>G","p.Thr914Arg","p.T914R","ENST00000319715","17/18",52,47,5,37,null,null,"RBBP6,missense_variant,p.T914R,ENST00000319715,NM_006910.5,c.2741C>G,MODERATE,YES,tolerated_low_confidence(0.11),benign(0),1;RBBP6,missense_variant,p.T880R,ENST00000348022,NM_018703.4,c.2639C>G,MODERATE,,deleterious_low_confidence(0),benign(0.003),1;RBBP6,missense_variant,p.T952R,ENST00000646282,,c.2855C>G,MODERATE,,tolerated_low_confidence(0.21),benign(0.003),1;RBBP6,missense_variant,p.T781R,ENST00000564314,,c.2342C>G,MODERATE,,tolerated_low_confidence(0.17),benign(0),1;RBBP6,intron_variant,,ENST00000381039,,c.1290-1445C>G,MODIFIER,,,,1;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,,n.3429C>G,MODIFIER,,,,1;RBBP6,downstream_gene_variant,,ENST00000570185,,,MODIFIER,,,,1","G","ENSG00000122257","ENST00000319715","Transcript","missense_variant","missense_variant","3802/6858","2741/5379","914/1792","T/R","aCa/aGa","COSV100154553",null,1,"RBBP6","HGNC","HGNC:9889","protein_coding","YES","CCDS10621.1","ENSP00000317872","Q7Z6E9.165",null,"UPI00001A96B8","Q7Z6E9-1","NM_006910.5","NM_006910.5","P4",null,"tolerated_low_confidence(0.11)","benign(0)","17/18",null,"PANTHER:PTHR15439;PANTHER:PTHR15439:SF0;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TAATACAAAGT","f51cf27e-a2ca-411a-90c4-20cbab417193","89190b73-a123-4224-a94c-fd0a7f2d4d9a","76df6303-a635-410b-a4d9-db5dce72fcbc",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BRDT",676,"BI","GRCh38","chr1",91962834,91962834,"+","Missense_Mutation","SNP","G","G","A","rs1363980091",null,"TCGA-BR-4363","TCGA-BR-4363-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"b31fcaf7-ccd9-4320-a1ae-e59c4450386c","8814f33d-2e46-4c3f-9a03-0c1c2d9ec106","c.80G>A","p.Arg27Gln","p.R27Q","ENST00000362005","2024-03-20",228,211,16,192,null,null,"BRDT,missense_variant,p.R27Q,ENST00000362005,NM_001242805.2&NM_207189.3,c.80G>A,MODERATE,,tolerated(0.34),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000399546,NM_001242806.2,c.80G>A,MODERATE,YES,tolerated(0.34),probably_damaging(0.998),1;BRDT,missense_variant,p.R27Q,ENST00000394530,NM_001242808.2&NM_001242807.2,c.80G>A,MODERATE,,tolerated(0.37),probably_damaging(1),1;BRDT,missense_variant,p.R27Q,ENST00000402388,NM_001726.4,c.80G>A,MODERATE,,tolerated(0.34),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000426141,,c.80G>A,MODERATE,,deleterious(0.04),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000427104,,c.80G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000440509,,c.80G>A,MODERATE,,deleterious(0.03),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000423434,,c.80G>A,MODERATE,,deleterious(0.01),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000448194,,c.80G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000548992,,c.80G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000450792,,c.80G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000457265,,c.80G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.275),1;BRDT,missense_variant,p.R27Q,ENST00000449584,,c.80G>A,MODERATE,,deleterious(0.04),benign(0.275),1;BRDT,5_prime_UTR_variant,,ENST00000552654,,c.-140G>A,MODIFIER,,,,1;BRDT,intron_variant,,ENST00000370389,NM_001242810.2,c.-27-1793G>A,MODIFIER,,,,1;BRDT,downstream_gene_variant,,ENST00000355011,,,MODIFIER,,,,1","A","ENSG00000137948","ENST00000362005","Transcript","missense_variant","missense_variant","498/3409","80/2844","27/947","R/Q","cGa/cAa","rs1363980091;COSV61771388",null,1,"BRDT","HGNC","HGNC:1105","protein_coding",null,"CCDS735.1","ENSP00000354568","Q58F21.137",null,"UPI000013D0E1","Q58F21-1","NM_001242805.2;NM_207189.3",null,"P4",null,"tolerated(0.34)","benign(0.275)","2024-03-20",null,"PDB-ENSP_mappings:2rfj.A;PDB-ENSP_mappings:2rfj.B;PDB-ENSP_mappings:2rfj.C;PDB-ENSP_mappings:4flp.A;PDB-ENSP_mappings:4flp.B;PDB-ENSP_mappings:4kcx.A;PDB-ENSP_mappings:4kcx.B;CDD:cd05497;Gene3D:1.20.920.10;SMART:SM00297;Superfamily:SSF47370;PANTHER:PTHR22880:SF175;PANTHER:PTHR22880",{"$nulls":19},"2.0295799913583323e-05","2.4338000002899207e-05",0,0,0,0,0,0,"3.0867100576870143e-05",0,0,"3.0867100576870143e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"TGGGCGATTGA","1bccf16b-40ad-45b5-b399-4aa3de8a1a20","02c57618-2594-4334-b35b-03765ecd9835","66bca2f8-f269-454d-abe2-ce51a0704645",null,"COSM4010584","N","Unknown",{"$nulls":3},"muse;mutect2"]
["CCDC3",83643,"BI","GRCh38","chr10",12898431,12898431,"+","Frame_Shift_Del","DEL","G","G","-","rs750606155",null,"TCGA-BR-4363","TCGA-BR-4363-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"b31fcaf7-ccd9-4320-a1ae-e59c4450386c","8814f33d-2e46-4c3f-9a03-0c1c2d9ec106","c.798del","p.Tyr267ThrfsTer21","p.Y267Tfs*21","ENST00000378825","2024-03-03",39,25,14,49,null,null,"CCDC3,frameshift_variant,p.Y142Tfs*21,ENST00000378839,NM_001282658.2,c.423del,HIGH,,,,-1;CCDC3,frameshift_variant,p.Y267Tfs*21,ENST00000378825,NM_031455.4,c.798del,HIGH,YES,,,-1;AL353586.1,intron_variant,,ENST00000649832,,n.511-75del,MODIFIER,YES,,,1","-","ENSG00000151468","ENST00000378825","Transcript","frameshift_variant","frameshift_variant","941/2747","798/813","266/270","P/X","ccC/cc","rs750606155",null,-1,"CCDC3","HGNC","HGNC:23813","protein_coding","YES","CCDS7093.1","ENSP00000368102","Q9BQI4.122",null,"UPI000006E69C","Q9BQI4-1","NM_031455.4","NM_031455.4","P2",{"$nulls":3},"2024-03-03",{"$nulls":10},"4.204e-06",0,0,0,0,0,0,0,"3.345e-05","3.345e-05","gnomAD_SAS","6.774149824195774e-06","2.4323799152625725e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"CAGGTAGGGGGG","1bccf16b-40ad-45b5-b399-4aa3de8a1a20","02c57618-2594-4334-b35b-03765ecd9835","66bca2f8-f269-454d-abe2-ce51a0704645",null,"COSM4611947","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KCTD19",146212,"BI","GRCh38","chr16",67291755,67291755,"+","Frame_Shift_Del","DEL","G","G","-","rs759860142",null,"TCGA-BR-4363","TCGA-BR-4363-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"b31fcaf7-ccd9-4320-a1ae-e59c4450386c","8814f33d-2e46-4c3f-9a03-0c1c2d9ec106","c.2301del","p.Val768TrpfsTer38","p.V768Wfs*38","ENST00000304372","13/16",107,73,34,75,null,null,"KCTD19,frameshift_variant,p.V768Wfs*38,ENST00000304372,NM_001100915.3,c.2301del,HIGH,YES,,,-1;KCTD19,intron_variant,,ENST00000562841,,c.280+1789del,MODIFIER,,,,-1;PLEKHG4,downstream_gene_variant,,ENST00000360461,NM_001129727.3,,MODIFIER,YES,,,1;PLEKHG4,downstream_gene_variant,,ENST00000379344,NM_001129729.3,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000427155,NM_001129728.1,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000450733,NM_001129731.3,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000569875,,,MODIFIER,,,,1;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,,n.4299del,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,,n.4133del,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,,n.3570del,MODIFIER,,,,-1;PLEKHG4,downstream_gene_variant,,ENST00000393966,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000562289,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000563969,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000567136,,,MODIFIER,,,,1","-","ENSG00000168676","ENST00000304372","Transcript","frameshift_variant","frameshift_variant","2335/2952","2301/2781","767/926","P/X","ccC/cc","rs759860142",null,-1,"KCTD19","HGNC","HGNC:24753","protein_coding","YES","CCDS42179.1","ENSP00000305702","Q17RG1.103",null,"UPI00001D7875",null,"NM_001100915.3","NM_001100915.3","P1",{"$nulls":3},"13/16",null,"PANTHER:PTHR14499;PANTHER:PTHR14499:SF20",{"$nulls":8},"1.204e-05","6.474e-05",0,0,"5.565e-05",0,0,0,"3.268e-05","6.474e-05","gnomAD_AFR","6.766079877706943e-06","2.4339200535905547e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"CACCACGGGGGG","1bccf16b-40ad-45b5-b399-4aa3de8a1a20","02c57618-2594-4334-b35b-03765ecd9835","66bca2f8-f269-454d-abe2-ce51a0704645",null,"COSM1378901","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ARHGAP31",57514,"BI","GRCh38","chr3",119399226,119399226,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-CG-5718","TCGA-CG-5718-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"6984870c-6068-43b9-963e-19c487be25fa","29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a","c.1034A>T","p.Lys345Ile","p.K345I","ENST00000264245","2024-09-12",119,85,33,126,null,null,"ARHGAP31,missense_variant,p.K345I,ENST00000264245,NM_020754.4,c.1034A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.864),1","T","ENSG00000031081","ENST00000264245","Transcript","missense_variant","missense_variant","1556/9307","1034/4335","345/1444","K/I","aAa/aTa","COSV51794668",null,1,"ARHGAP31","HGNC","HGNC:29216","protein_coding","YES","CCDS43135.1","ENSP00000264245","Q2M1Z3.117",null,"UPI00001C1DFD",null,"NM_020754.4","NM_020754.4","P1",null,"deleterious(0)","possibly_damaging(0.864)","2024-09-12",null,"PANTHER:PTHR15729;PANTHER:PTHR15729:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AGCTAAAAGCA","eba346b3-8fb2-43c5-9333-ee2df82b4c34","2327b9ae-b78c-480d-b9a8-8a12284423d9","d5c58161-05ed-4472-81ed-176216f49929",null,"COSM4112513","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF30",90075,"BI","GRCh38","chr19",34943714,34943714,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-HU-A4HD","TCGA-HU-A4HD-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"8304b367-d009-4a3f-ac16-2e203bafc9fd","4d53618f-7d90-47bf-ac32-ff6714f4a60c","c.748C>G","p.His250Asp","p.H250D","ENST00000601142","2024-05-05",38,34,4,28,null,null,"ZNF30,missense_variant,p.H251D,ENST00000439785,NM_001099438.1,c.751C>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;ZNF30,missense_variant,p.H250D,ENST00000601142,NM_194325.3,c.748C>G,MODERATE,,deleterious(0),probably_damaging(0.995),1;ZNF30,missense_variant,p.H251D,ENST00000303586,NM_001099437.2,c.751C>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;ZNF30,3_prime_UTR_variant,,ENST00000601957,,c.*567C>G,MODIFIER,,,,1;ZNF30,downstream_gene_variant,,ENST00000595818,,,MODIFIER,,,,1","G","ENSG00000168661","ENST00000601142","Transcript","missense_variant","missense_variant","1126/2580","748/1872","250/623","H/D","Cat/Gat","COSV57855434",null,1,"ZNF30","HGNC","HGNC:13090","protein_coding",null,"CCDS46045.1","ENSP00000469954","P17039.188",null,"UPI0000E0464D","P17039-1","NM_194325.3","NM_194325.3","A2",null,"deleterious(0)","probably_damaging(0.995)","2024-05-05",null,"Gene3D:3.30.160.60;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CCCGGCATCAG","2f07dd66-e52d-4270-843d-66f602efc907","fdf52ddd-adda-42e5-ab92-1de794d9779c","d807a1c0-f586-4f13-b8ef-3f79ab3d4b70",null,"COSM4076898;COSM4076899","N","Unknown",{"$nulls":3},"muse;mutect2"]
["NUP133",55746,"BI","GRCh38","chr1",229458252,229458252,"+","Nonsense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-8059","TCGA-BR-8059-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"157892e9-83f4-44a9-9ad0-4d309678f251","ffe6b1c1-61fa-4e09-9e32-2784a0b4719e","c.2889C>G","p.Tyr963Ter","p.Y963*","ENST00000261396","21/26",64,46,18,136,null,null,"NUP133,stop_gained,p.Y963*,ENST00000261396,NM_018230.3,c.2889C>G,HIGH,YES,,,-1","C","ENSG00000069248","ENST00000261396","Transcript","stop_gained","stop_gained","2981/5208","2889/3471","963/1156","Y/*","taC/taG","COSV54570397",null,-1,"NUP133","HGNC","HGNC:18016","protein_coding","YES","CCDS1579.1","ENSP00000261396","Q8WUM0.180",null,"UPI000013D17A",null,"NM_018230.3","NM_018230.3","P1",{"$nulls":3},"21/26",null,"Gene3D:1.25.40.700;PDB-ENSP_mappings:3cqc.B;PDB-ENSP_mappings:3cqg.B;PDB-ENSP_mappings:3i4r.B;PDB-ENSP_mappings:5a9q.3;PDB-ENSP_mappings:5a9q.C;PDB-ENSP_mappings:5a9q.L;PDB-ENSP_mappings:5a9q.U;Pfam:PF03177;PANTHER:PTHR13405",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"GCAAAGTAACG","d471e2ee-31ef-4fe7-871d-a4318362183c","8176e94b-b33c-444e-94d9-bb51477639b1","bae3c762-d894-4742-860c-43d18659b4bc",null,"COSM4029319","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ERBB3",2065,"BI","GRCh38","chr12",56101736,56101736,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8059","TCGA-BR-8059-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"157892e9-83f4-44a9-9ad0-4d309678f251","ffe6b1c1-61fa-4e09-9e32-2784a0b4719e","c.3710G>A","p.Ser1237Asn","p.S1237N","ENST00000267101","28/28",63,58,5,78,null,null,"ERBB3,missense_variant,p.S1237N,ENST00000267101,NM_001982.4,c.3710G>A,MODERATE,YES,tolerated(0.16),possibly_damaging(0.614),1;ERBB3,missense_variant,p.S1178N,ENST00000415288,,c.3533G>A,MODERATE,,tolerated(0.17),possibly_damaging(0.614),1;ERBB3,missense_variant,p.S357N,ENST00000549832,,c.1070G>A,MODERATE,,tolerated(0.14),possibly_damaging(0.777),1;ERBB3,missense_variant,p.S478N,ENST00000553131,,c.1433G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.614),1;ERBB3,missense_variant,p.S544N,ENST00000550070,,c.1631G>A,MODERATE,,tolerated(0.16),possibly_damaging(0.785),1;AC034102.2,intron_variant,,ENST00000548861,,c.31+375G>A,MODIFIER,YES,,,1;PA2G4,upstream_gene_variant,,ENST00000303305,NM_006191.3,,MODIFIER,YES,,,1;PA2G4,upstream_gene_variant,,ENST00000551061,,,MODIFIER,,,,1;PA2G4,upstream_gene_variant,,ENST00000552766,,,MODIFIER,,,,1;PA2G4,upstream_gene_variant,,ENST00000553057,,,MODIFIER,,,,1;ERBB3,3_prime_UTR_variant,,ENST00000551085,,c.*1127G>A,MODIFIER,,,,1;ERBB3,3_prime_UTR_variant,,ENST00000551242,,c.*565G>A,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000548709,,,MODIFIER,,,,1;PA2G4,upstream_gene_variant,,ENST00000550166,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000550869,,,MODIFIER,,,,1;ERBB3,downstream_gene_variant,,ENST00000552691,,,MODIFIER,,,,1;AC034102.4,downstream_gene_variant,,ENST00000548595,,,MODIFIER,YES,,,-1","A","ENSG00000065361","ENST00000267101","Transcript","missense_variant","missense_variant","3846/5615","3710/4029","1237/1342","S/N","aGc/aAc","COSV57251355",null,1,"ERBB3","HGNC","HGNC:3431","protein_coding","YES","CCDS31833.1","ENSP00000267101","P21860.227",null,"UPI000012A113","P21860-1","NM_001982.4","NM_001982.4","P1",null,"tolerated(0.16)","possibly_damaging(0.614)","28/28",null,"PIRSF:PIRSF000619",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGGCAGCACAC","d471e2ee-31ef-4fe7-871d-a4318362183c","8176e94b-b33c-444e-94d9-bb51477639b1","bae3c762-d894-4742-860c-43d18659b4bc",null,"COSM4043473;COSM4043474","N","Unknown",{"$nulls":3},"muse;mutect2"]
["NLRP12",91662,"BI","GRCh38","chr19",53824078,53824078,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8059","TCGA-BR-8059-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"157892e9-83f4-44a9-9ad0-4d309678f251","ffe6b1c1-61fa-4e09-9e32-2784a0b4719e","c.97G>T","p.Gly33Trp","p.G33W","ENST00000324134","2024-01-10",54,43,11,115,null,null,"NLRP12,missense_variant,p.G33W,ENST00000391773,NM_001277126.2,c.97G>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1;NLRP12,missense_variant,p.G33W,ENST00000324134,NM_144687.4,c.97G>T,MODERATE,,deleterious(0),probably_damaging(0.964),-1;NLRP12,missense_variant,p.G33W,ENST00000345770,,c.97G>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;NLRP12,missense_variant,p.G33W,ENST00000391775,NM_001277129.1,c.97G>T,MODERATE,,deleterious(0),probably_damaging(0.964),-1;NLRP12,missense_variant,p.G33W,ENST00000391772,,c.97G>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1","A","ENSG00000142405","ENST00000324134","Transcript","missense_variant","missense_variant","237/3634","97/3186","33/1061","G/W","Ggg/Tgg","COSV60746327",null,-1,"NLRP12","HGNC","HGNC:22938","protein_coding",null,"CCDS12864.1","ENSP00000319377","P59046.171",null,"UPI00001412CE","P59046-1","NM_144687.4","NM_144687.4","A2",null,"deleterious(0)","probably_damaging(0.964)","2024-01-10",null,"PDB-ENSP_mappings:2l6a.A;PDB-ENSP_mappings:5h7n.A;PDB-ENSP_mappings:5h7n.B;PROSITE_profiles:PS50824;CDD:cd08320;PANTHER:PTHR45690:SF11;PANTHER:PTHR45690;Pfam:PF02758;Gene3D:1.10.533.10;SMART:SM01289;Superfamily:SSF47986",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGTCCCCAGGT","d471e2ee-31ef-4fe7-871d-a4318362183c","8176e94b-b33c-444e-94d9-bb51477639b1","bae3c762-d894-4742-860c-43d18659b4bc",null,"COSM4081101;COSM4081102","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FCRL5",83416,"BI","GRCh38","chr1",157521134,157521135,"+","Frame_Shift_Ins","INS","-","-","G","rs761392473",null,"TCGA-CG-4465","TCGA-CG-4465-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6a4d2322-4237-4711-81fa-af35e6172e7a","13f23952-b672-4ba2-a98f-33a96de06f95","c.2397dup","p.Ser800LeufsTer21","p.S800Lfs*21","ENST00000361835","2024-11-17",145,110,35,184,null,null,"FCRL5,frameshift_variant,p.S800Lfs*21,ENST00000361835,NM_001195388.2&NM_031281.3,c.2397dup,HIGH,YES,,,-1;FCRL5,downstream_gene_variant,,ENST00000368190,,,MODIFIER,,,,-1;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,,n.1660dup,MODIFIER,,,,-1;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,,n.1490dup,MODIFIER,,,,-1;FCRL5,upstream_gene_variant,,ENST00000483875,,,MODIFIER,,,,-1","G","ENSG00000143297","ENST00000361835","Transcript","frameshift_variant","frameshift_variant","2550-2551/5385","2397-2398/2934","799-800/977","-/X","-/C","rs761392473",null,-1,"FCRL5","HGNC","HGNC:18508","protein_coding","YES","CCDS1165.1","ENSP00000354691","Q96RD9.164",null,"UPI0000458907","Q96RD9-1","NM_001195388.2;NM_031281.3","NM_031281.3","P1",{"$nulls":3},"2024-11-17",null,"Gene3D:2.60.40.10;Pfam:PF13895;PROSITE_profiles:PS50835;PANTHER:PTHR11481;PANTHER:PTHR11481:SF68;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096",{"$nulls":8},0.0002227,0,0,0,0,"9.24e-05",4.483E-4,0.0004886,0,0.0004886,"gnomAD_OTH","5.4092099162517115e-05",0,0,0,0,0,0,0,0.000123445002827793,0,0,0.000123445002827793,"nfe",{"$nulls":9},"HIGH",1,"insertion",1,{"$nulls":3},"TCCAGAGGGGG","f1096979-f657-4460-b35c-ace20da61262","e18b074a-a472-4a6d-85bf-a6eda46a14f2","c9ab5bf4-092a-420f-9b90-87deea58104c",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KMT2A",4297,"BI","GRCh38","chr11",118488636,118488636,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CG-4465","TCGA-CG-4465-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6a4d2322-4237-4711-81fa-af35e6172e7a","13f23952-b672-4ba2-a98f-33a96de06f95","c.4355G>T","p.Cys1452Phe","p.C1452F","ENST00000389506","11/36",123,84,39,121,null,null,"KMT2A,missense_variant,p.C1452F,ENST00000534358,NM_001197104.2,c.4355G>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;KMT2A,missense_variant,p.C1452F,ENST00000389506,NM_005933.4,c.4355G>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;KMT2A,missense_variant,p.C1414F,ENST00000649699,,c.4241G>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;KMT2A,downstream_gene_variant,,ENST00000531904,,,MODIFIER,,,,1;KMT2A,downstream_gene_variant,,ENST00000420751,,,MODIFIER,,,,1;KMT2A,downstream_gene_variant,,ENST00000392873,,,MODIFIER,,,,1","T","ENSG00000118058","ENST00000389506","Transcript","missense_variant","missense_variant","4378/13678","4355/11910","1452/3969","C/F","tGt/tTt","COSV63285266",null,1,"KMT2A","HGNC","HGNC:7132","protein_coding",null,"CCDS31686.1","ENSP00000374157","Q03164.239",null,"UPI00001BE8DF","Q03164-1","NM_005933.4",null,"P4",null,"deleterious(0)","probably_damaging(0.994)","11/36",null,"PROSITE_profiles:PS50016;CDD:cd15588;PANTHER:PTHR45838;PANTHER:PTHR45838:SF2;Gene3D:3.30.40.10;PIRSF:PIRSF010354;SMART:SM00249",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CTGTTGTGAGC","f1096979-f657-4460-b35c-ace20da61262","e18b074a-a472-4a6d-85bf-a6eda46a14f2","c9ab5bf4-092a-420f-9b90-87deea58104c",null,"COSM4018303;COSM4018304","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRDM16",63976,"BI","GRCh38","chr1",3411456,3411456,"+","Missense_Mutation","SNP","G","G","A","rs752753184",null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.1259G>A","p.Arg420His","p.R420H","ENST00000270722","2024-09-17",123,110,13,85,null,null,"PRDM16,missense_variant,p.R420H,ENST00000270722,NM_022114.4,c.1259G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;PRDM16,missense_variant,p.R420H,ENST00000378391,NM_199454.3,c.1259G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;PRDM16,missense_variant,p.R421H,ENST00000511072,,c.1262G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;PRDM16,missense_variant,p.R421H,ENST00000514189,,c.1262G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;PRDM16,missense_variant,p.R229H,ENST00000509860,,c.686G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,,n.1037G>A,MODIFIER,,,,1","A","ENSG00000142611","ENST00000270722","Transcript","missense_variant","missense_variant","1316/8698","1259/3831","420/1276","R/H","cGc/cAc","rs752753184;COSV54585853",null,1,"PRDM16","HGNC","HGNC:14000","protein_coding","YES","CCDS41236.2","ENSP00000270722","Q9HAZ2.187",null,"UPI0000458A29","Q9HAZ2-1","NM_022114.4","NM_022114.4","P4",null,"deleterious(0)","probably_damaging(0.996)","2024-09-17",null,"Gene3D:3.30.160.60;PROSITE_profiles:PS50157;PANTHER:PTHR24393;PANTHER:PTHR24393:SF69",{"$nulls":8},"8.003e-06","6.387e-05",0,0,0,0,"8.826e-06",0,0,"6.387e-05","gnomAD_AFR","1.35215996124316e-05","4.8640500608598813e-05",0,0,0,0,0,0,0,0,0,"4.8640500608598813e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTGCCGCACGC","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,"COSM4031530","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PIGZ",80235,"BI","GRCh38","chr3",196947429,196947430,"+","Frame_Shift_Ins","INS","-","-","C","rs759867499",null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.1467dup","p.Thr490AspfsTer2","p.T490Dfs*2","ENST00000412723","2024-03-03",139,107,32,100,null,null,"PIGZ,frameshift_variant,p.T490Dfs*2,ENST00000412723,NM_025163.4,c.1467dup,HIGH,YES,,,-1;PIGZ,3_prime_UTR_variant,,ENST00000413127,,c.*1106dup,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000321256,NM_007362.5,,MODIFIER,YES,,,-1;NCBP2,upstream_gene_variant,,ENST00000411704,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000427641,NM_001042540.1,,MODIFIER,,,,-1;PIGZ,downstream_gene_variant,,ENST00000443835,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000452404,NM_001308036.1,,MODIFIER,,,,-1;NCBP2AS2,downstream_gene_variant,,ENST00000602845,NM_001355243.2,,MODIFIER,YES,,,1;PIGZ,downstream_gene_variant,,ENST00000238138,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000428425,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000463783,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000468923,,,MODIFIER,,,,-1;NCBP2,upstream_gene_variant,,ENST00000482976,,,MODIFIER,,,,-1;NCBP2-AS1,downstream_gene_variant,,ENST00000447775,,,MODIFIER,YES,,,1","C","ENSG00000119227","ENST00000412723","Transcript","frameshift_variant","frameshift_variant","1614-1615/2688","1467-1468/1740","489-490/579","-/X","-/G","rs759867499",null,-1,"PIGZ","HGNC","HGNC:30596","protein_coding","YES","CCDS3324.1","ENSP00000413405","Q86VD9.120",null,"UPI000013CA2C",null,"NM_025163.4","NM_025163.4","P1",{"$nulls":3},"2024-03-03",null,"PANTHER:PTHR22760;PANTHER:PTHR22760:SF3",{"$nulls":8},"1.597e-05",0,"2.895e-05",0,0,0,"1.763e-05",0,"3.268e-05","3.268e-05","gnomAD_SAS","2.0313900677138008e-05","4.8732901632320136e-05",0,0,0,0,0,0,0,0,0.000209644000278785,"4.8732901632320136e-05","afr",{"$nulls":9},"HIGH",1,"insertion",1,{"$nulls":3},"CTCAGTCCCCC","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PRICKLE4",29964,"BI","GRCh38","chr6",41784225,41784225,"+","Missense_Mutation","SNP","C","C","T","rs752836843",null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.107C>T","p.Pro36Leu","p.P36L","ENST00000359201","2024-02-06",108,89,19,79,null,null,"PRICKLE4,missense_variant,p.P36L,ENST00000359201,,c.107C>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),1;PRICKLE4,missense_variant,p.P76L,ENST00000458694,NM_013397.6,c.227C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;PRICKLE4,missense_variant,p.P36L,ENST00000394260,,c.107C>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),1;PRICKLE4,missense_variant,p.P36L,ENST00000394259,,c.107C>T,MODERATE,,deleterious(0.01),probably_damaging(0.999),1;FRS3,intron_variant,,ENST00000422888,,c.-168+2268G>A,MODIFIER,,,,-1;FRS3,upstream_gene_variant,,ENST00000373018,NM_006653.5,,MODIFIER,YES,,,-1;TOMM6,upstream_gene_variant,,ENST00000398881,NM_001134493.2&NM_001382294.1,,MODIFIER,,,,1;TOMM6,upstream_gene_variant,,ENST00000398884,,,MODIFIER,YES,,,1;FRS3,upstream_gene_variant,,ENST00000426290,,,MODIFIER,,,,-1;PRICKLE4,upstream_gene_variant,,ENST00000483200,,,MODIFIER,,,,1;PRICKLE4,upstream_gene_variant,,ENST00000463606,,,MODIFIER,,,,1;AL365205.1,missense_variant,p.P76L,ENST00000335515,,c.227C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;AL365205.1,3_prime_UTR_variant,,ENST00000456057,,c.*411C>T,MODIFIER,,,,1;AL365205.1,non_coding_transcript_exon_variant,,ENST00000487182,,n.990C>T,MODIFIER,,,,1","T","ENSG00000278224","ENST00000359201","Transcript","missense_variant","missense_variant","927/2098","107/1035","36/344","P/L","cCg/cTg","rs752836843;COSV100138923;COSV59254307",null,1,"PRICKLE4","HGNC","HGNC:16805","protein_coding",null,null,"ENSP00000352128","Q2TBC4.130",null,"UPI00006E2246","Q2TBC4-1",null,null,"A2",null,"deleterious(0.01)","probably_damaging(0.999)","2024-02-06",null,"Pfam:PF06297;PROSITE_profiles:PS51303;PANTHER:PTHR24211;PANTHER:PTHR24211:SF35;Low_complexity_(Seg):seg",{"$nulls":8},"3.62e-05",1.851E-4,"2.95e-05",0,1.097E-4,0,"1.777e-05",0,"3.304e-05",1.851E-4,"gnomAD_AFR","1.3519899766833987e-05","4.864999937126413e-05",0,0,0,0,0,0,0,0,0,"4.864999937126413e-05","afr",null,"0;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1;1",null,"CCCTCCGCAGG","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,"COSM1079254;COSM1079255;COSM3874006","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SF3B2",10992,"BI","GRCh38","chr11",66068675,66068675,"+","Frame_Shift_Del","DEL","A","A","-","rs759211171",null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.2625del","p.Lys875AsnfsTer59","p.K875Nfs*59","ENST00000322535","22/22",178,148,30,114,null,null,"SF3B2,frameshift_variant,p.K875Nfs*59,ENST00000322535,NM_006842.3,c.2625del,HIGH,YES,,,1;SF3B2,frameshift_variant,p.K858Nfs*59,ENST00000528302,,c.2574del,HIGH,,,,1;SF3B2,frameshift_variant,p.K295Nfs*59,ENST00000530981,,c.884del,HIGH,,,,1;PACS1,upstream_gene_variant,,ENST00000320580,NM_018026.4,,MODIFIER,YES,,,1;PACS1,upstream_gene_variant,,ENST00000527224,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000534765,,,MODIFIER,,,,1;AP006287.2,intron_variant,,ENST00000529036,,n.239+706del,MODIFIER,YES,,,-1","-","ENSG00000087365","ENST00000322535","Transcript","frameshift_variant","frameshift_variant;splice_region_variant","2639/3272","2618/2688","873/895","Q/X","cAa/ca","rs759211171",null,1,"SF3B2","HGNC","HGNC:10769","protein_coding","YES","CCDS31612.1","ENSP00000318861","Q13435.192",null,"UPI00001C1F20",null,"NM_006842.3","NM_006842.3","P3",{"$nulls":3},"22/22",null,"PDB-ENSP_mappings:5z56.2;PDB-ENSP_mappings:5z57.2;PDB-ENSP_mappings:5z58.2;PDB-ENSP_mappings:6ah0.2;PDB-ENSP_mappings:6ff4.8;PDB-ENSP_mappings:6ff7.8;PDB-ENSP_mappings:6qx9.B2;PANTHER:PTHR12785;PANTHER:PTHR12785:SF6;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"4.05e-06",0,0,1.014E-4,0,0,0,0,0,1.014E-4,"gnomAD_ASJ",{"$nulls":22},"HIGH",1,"deletion",1,7,null,null,"TACAGCAAAAAA","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,"COSM4725298","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["AKAP13",11214,"BI","GRCh38","chr15",85743640,85743640,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.8207G>T","p.Arg2736Leu","p.R2736L","ENST00000394518","36/37",450,377,72,325,null,null,"AKAP13,missense_variant,p.R2736L,ENST00000394518,NM_007200.5,c.8207G>T,MODERATE,,tolerated(0.06),possibly_damaging(0.506),1;AKAP13,missense_variant,p.R2740L,ENST00000361243,NM_006738.6,c.8219G>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.702),1;AKAP13,missense_variant,p.R1357L,ENST00000394510,NM_001270546.1,c.4070G>T,MODERATE,,tolerated(0.15),benign(0.364),1;AKAP13,missense_variant,p.R1352L,ENST00000560579,,c.4055G>T,MODERATE,,tolerated(0.13),benign(0.437),1;AKAP13,upstream_gene_variant,,ENST00000560185,,,MODIFIER,,,,1;AKAP13,downstream_gene_variant,,ENST00000559391,,,MODIFIER,,,,1;AC021739.2,downstream_gene_variant,,ENST00000558375,,,MODIFIER,YES,,,-1","T","ENSG00000170776","ENST00000394518","Transcript","missense_variant","missense_variant","8414/13327","8207/8442","2736/2813","R/L","cGg/cTg","COSV63452754;COSV63460008",null,1,"AKAP13","HGNC","HGNC:371","protein_coding",null,"CCDS32319.1","ENSP00000378026","Q12802.183",null,"UPI0000167BA0","Q12802-1","NM_007200.5","NM_007200.5","A2",null,"tolerated(0.06)","possibly_damaging(0.506)","36/37",null,"PANTHER:PTHR13944;PANTHER:PTHR13944:SF18;MobiDB_lite:mobidb-lite",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"CTCTCGGACAC","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,"COSM4057588;COSM4057589","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAP7D3",79649,"BI","GRCh38","chrX",136232158,136232158,"+","Missense_Mutation","SNP","C","C","T","rs763827540",null,"TCGA-BR-4370","TCGA-BR-4370-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e","18ac71f7-5e0b-4232-b724-197e4e4c1ea8","c.799G>A","p.Asp267Asn","p.D267N","ENST00000316077","2024-08-19",450,365,85,352,null,null,"MAP7D3,missense_variant,p.D249N,ENST00000370663,NM_001173516.1,c.745G>A,MODERATE,,deleterious(0.01),probably_damaging(0.965),-1;MAP7D3,missense_variant,p.D267N,ENST00000316077,NM_024597.4,c.799G>A,MODERATE,YES,deleterious(0.01),benign(0.166),-1;MAP7D3,missense_variant,p.D232N,ENST00000370661,NM_001173517.1,c.694G>A,MODERATE,,deleterious(0.01),benign(0.314),-1;MAP7D3,intron_variant,,ENST00000370660,,c.737-61G>A,MODIFIER,,,,-1;MAP7D3,upstream_gene_variant,,ENST00000477124,,,MODIFIER,,,,-1;MAP7D3,upstream_gene_variant,,ENST00000489788,,,MODIFIER,,,,-1;MAP7D3,upstream_gene_variant,,ENST00000495432,,,MODIFIER,,,,-1","T","ENSG00000129680","ENST00000316077","Transcript","missense_variant","missense_variant","841/4385","799/2631","267/876","D/N","Gac/Aac","rs763827540;COSV60170488",null,-1,"MAP7D3","HGNC","HGNC:25742","protein_coding","YES","CCDS44004.1","ENSP00000318086","Q8IWC1.135",null,"UPI00001C207C","Q8IWC1-1","NM_024597.4","NM_024597.4","P4",null,"deleterious(0.01)","benign(0.166)","2024-08-19",null,"PANTHER:PTHR15073;PANTHER:PTHR15073:SF5",{"$nulls":8},"1.102e-05",0,"3.655e-05",0,0,0,"1.229e-05",0,0,"3.655e-05","gnomAD_AMR","1.831319968914613e-05","3.2671199733158574e-05",0,0,0,0,0,0,"1.96052005776437e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TTCGTCGCTAG","28b238c4-ee0d-460d-aa80-5606eccdbc58","0a9ae57f-66eb-4b93-a4d9-518e825229b6","a2a71cb0-9dbd-45cc-8867-da84500515e7",null,"COSM4106889","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FGD2",221472,"BI","GRCh38","chr6",37011010,37011010,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-FP-8631","TCGA-FP-8631-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"0b6b2897-e3b5-4ede-ad77-9a16afcc575b","f3ffe320-f841-4be7-ba82-a5ff6c38ebb1","c.338C>T","p.Thr113Ile","p.T113I","ENST00000274963","2024-03-16",136,118,18,87,null,null,"FGD2,missense_variant,p.T113I,ENST00000274963,NM_173558.4,c.338C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;FGD2,3_prime_UTR_variant,,ENST00000497659,,c.*39C>T,MODIFIER,,,,1;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,,n.457C>T,MODIFIER,,,,1;FGD2,non_coding_transcript_exon_variant,,ENST00000487975,,n.457C>T,MODIFIER,,,,1;FGD2,non_coding_transcript_exon_variant,,ENST00000459781,,n.498C>T,MODIFIER,,,,1;FGD2,intron_variant,,ENST00000373535,,c.300+1945C>T,MODIFIER,,,,1;FGD2,upstream_gene_variant,,ENST00000470273,,,MODIFIER,,,,1;FGD2,downstream_gene_variant,,ENST00000489356,,,MODIFIER,,,,1;FGD2,upstream_gene_variant,,ENST00000493635,,,MODIFIER,,,,1;FGD2,upstream_gene_variant,,ENST00000494343,,,MODIFIER,,,,1","T","ENSG00000146192","ENST00000274963","Transcript","missense_variant","missense_variant","501/3037","338/1968","113/655","T/I","aCa/aTa","COSV51466465",null,1,"FGD2","HGNC","HGNC:3664","protein_coding","YES","CCDS4829.1","ENSP00000274963","Q7Z6J4.156",null,"UPI00001A9477","Q7Z6J4-1","NM_173558.4","NM_173558.4","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-03-16",null,"PROSITE_profiles:PS50010;CDD:cd00160;PANTHER:PTHR12673:SF82;PANTHER:PTHR12673;Pfam:PF00621;Gene3D:1.20.900.10;SMART:SM00325;Superfamily:SSF48065",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGAGACAGAGC","8fe2d4b8-8e60-462f-8bab-9020b7672adf","a31b6100-e61e-4214-9cc5-cacb783194e9","1a4313e7-a770-4a0e-93f1-c10562f521e3",null,"COSM3873573","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BEST3",144453,"BI","GRCh38","chr12",69697796,69697796,"+","Translation_Start_Site","SNP","C","C","T",null,null,"TCGA-BR-4191","TCGA-BR-4191-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"bcd5de9b-f68d-4829-9694-9cb4252e4600","84c5691b-e55b-4703-abe7-02ddf32d42f0","c.3G>A","p.Met1?","p.M1?","ENST00000330891","2024-02-10",97,72,25,115,null,null,"BEST3,start_lost,p.M1?,ENST00000330891,NM_032735.3,c.3G>A,HIGH,YES,deleterious(0),probably_damaging(1),-1;BEST3,start_lost,p.M1?,ENST00000331471,NM_001282614.1,c.3G>A,HIGH,,deleterious(0),probably_damaging(0.994),-1;BEST3,start_lost,p.M1?,ENST00000548658,,c.3G>A,HIGH,,deleterious(0),probably_damaging(0.997),-1;BEST3,intron_variant,,ENST00000266661,NM_001282615.2,c.-72+1409G>A,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000476098,,c.-185+1409G>A,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000551160,NM_001282616.2,c.-167+1409G>A,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000553096,NM_001282613.1,c.-72+1409G>A,MODIFIER,,,,-1;BEST3,upstream_gene_variant,,ENST00000552295,,,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000533674,,n.140+1409G>A,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000547208,,c.-50+1409G>A,MODIFIER,,,,-1","T","ENSG00000127325","ENST00000330891","Transcript","start_lost","start_lost","117/3419","3/2007","1/668","M/I","atG/atA","COSV56995301;COSV56995419",null,-1,"BEST3","HGNC","HGNC:17105","protein_coding","YES","CCDS8992.2","ENSP00000332413","Q8N1M1.149",null,"UPI000006E397","Q8N1M1-2","NM_032735.3","NM_032735.3","P4",null,"deleterious(0)","probably_damaging(1)","2024-02-10",null,"PANTHER:PTHR10736:SF2;PANTHER:PTHR10736",{"$nulls":33},"1;1",{"$nulls":7},"HIGH",1,"SNV",5,null,"1;1",null,"ACAGTCATCTT","9d4432a1-ce3d-47b8-a052-b5b52ed80c50","f6d297b1-6860-4c4a-9671-f5d389b10fea","74f859cf-6df5-4e96-ae6b-cfaab691d5fd",null,"COSM4044542;COSM4044543","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBC1D5",9779,"BI","GRCh38","chr3",17406439,17406439,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-B7-5816","TCGA-B7-5816-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7","a2c1f792-39dd-4c35-8868-4be46623e3f0","c.255G>T","p.Arg85Ser","p.R85S","ENST00000253692","2024-05-22",198,154,44,255,null,null,"TBC1D5,missense_variant,p.R85S,ENST00000253692,NM_001349087.1&NM_001349090.1&NM_001349088.1&NM_001349079.1&NM_001349076.1&NM_014744.2&NM_001349078.2,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000429383,NM_001349091.1&NM_001349080.1&NM_001349081.1&NM_001349089.1&NM_001349077.1,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000446818,NM_001349086.1&NM_001349073.1&NM_001349085.1&NM_001349075.1&NM_001349083.1&NM_001349074.1&NM_001349082.1&NM_001349084.1&NM_001134381.1,c.255G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.557),-1;TBC1D5,missense_variant,p.R37S,ENST00000429924,,c.111G>T,MODERATE,,deleterious(0.01),benign(0.246),-1;TBC1D5,missense_variant,p.R85S,ENST00000415814,,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000428355,,c.255G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000414349,,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000445294,,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000425944,,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,missense_variant,p.R85S,ENST00000507877,,c.255G>T,MODERATE,,deleterious(0),possibly_damaging(0.667),-1;TBC1D5,downstream_gene_variant,,ENST00000434420,,,MODIFIER,,,,-1;TBC1D5,downstream_gene_variant,,ENST00000446863,,,MODIFIER,,,,-1;TBC1D5,non_coding_transcript_exon_variant,,ENST00000443499,,n.608G>T,MODIFIER,,,,-1;TBC1D5,non_coding_transcript_exon_variant,,ENST00000497531,,n.651G>T,MODIFIER,,,,-1;TBC1D5,non_coding_transcript_exon_variant,,ENST00000443386,,n.540G>T,MODIFIER,,,,-1;TBC1D5,non_coding_transcript_exon_variant,,ENST00000444756,,n.524G>T,MODIFIER,,,,-1;TBC1D5,intron_variant,,ENST00000414318,,n.212-98305G>T,MODIFIER,,,,-1;TBC1D5,3_prime_UTR_variant,,ENST00000412981,,c.*62G>T,MODIFIER,,,,-1;TBC1D5,3_prime_UTR_variant,,ENST00000452492,,c.*62G>T,MODIFIER,,,,-1;TBC1D5,3_prime_UTR_variant,,ENST00000430169,,c.*62G>T,MODIFIER,,,,-1","A","ENSG00000131374","ENST00000253692","Transcript","missense_variant","missense_variant","1920/7854","255/2388","85/795","R/S","agG/agT","COSV53749354",null,-1,"TBC1D5","HGNC","HGNC:19166","protein_coding",null,"CCDS33714.1","ENSP00000253692","Q92609.168","B9A6K1.70","UPI0000136A45","Q92609-1","NM_001349087.1;NM_001349090.1;NM_001349088.1;NM_001349079.1;NM_001349076.1;NM_014744.2;NM_001349078.2",null,"A2",null,"deleterious(0)","possibly_damaging(0.667)","2024-05-22",null,"PROSITE_profiles:PS50086;PANTHER:PTHR22957;PANTHER:PTHR22957:SF337;SMART:SM00164;Superfamily:SSF47923",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CGGAACCTGCT","c40656fa-71a5-437c-8af2-5c9f28a918b8","7f3a390b-2f2b-4a19-a76d-f99aa089764a","f07070c0-fd0a-4c19-ba1e-5f06b933cd7c",null,"COSM4115365","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC25A2",83884,"BI","GRCh38","chr5",141303351,141303351,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-B7-5816","TCGA-B7-5816-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7","a2c1f792-39dd-4c35-8868-4be46623e3f0","c.515G>A","p.Gly172Glu","p.G172E","ENST00000239451","2024-01-01",304,286,18,212,null,null,"SLC25A2,missense_variant,p.G172E,ENST00000239451,NM_031947.4,c.515G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;TAF7,intron_variant,,ENST00000624699,,n.128+17167G>A,MODIFIER,,,,-1","T","ENSG00000120329","ENST00000239451","Transcript","missense_variant","missense_variant","699/1415","515/906","172/301","G/E","gGa/gAa","COSV53403057",null,-1,"SLC25A2","HGNC","HGNC:22921","protein_coding","YES","CCDS4258.1","ENSP00000239451","Q9BXI2.149",null,"UPI0000130E9F",null,"NM_031947.4","NM_031947.4","P1",null,"deleterious(0)","probably_damaging(1)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50920;PANTHER:PTHR45624;PANTHER:PTHR45624:SF20;Pfam:PF00153;Gene3D:1.50.40.10;Superfamily:SSF103506",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"AGAGTCCATGG","c40656fa-71a5-437c-8af2-5c9f28a918b8","7f3a390b-2f2b-4a19-a76d-f99aa089764a","f07070c0-fd0a-4c19-ba1e-5f06b933cd7c",null,"COSM3851615","N","Unknown",{"$nulls":3},"muse;mutect2"]
["FBXO34",55030,"BI","GRCh38","chr14",55350743,55350743,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-B7-5816","TCGA-B7-5816-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7","a2c1f792-39dd-4c35-8868-4be46623e3f0","c.358del","p.Ile120LeufsTer13","p.I120Lfs*13","ENST00000313833","2024-02-02",89,78,11,88,null,null,"FBXO34,frameshift_variant,p.I120Lfs*13,ENST00000313833,NM_017943.4,c.358del,HIGH,YES,,,1;FBXO34,frameshift_variant,p.I120Lfs*13,ENST00000440021,NM_152231.1,c.358del,HIGH,,,,1;FBXO34,non_coding_transcript_exon_variant,,ENST00000555087,,n.520del,MODIFIER,,,,1;FBXO34,non_coding_transcript_exon_variant,,ENST00000554940,,n.461del,MODIFIER,,,,1;FBXO34,intron_variant,,ENST00000557647,,n.328+198del,MODIFIER,,,,1;FBXO34,upstream_gene_variant,,ENST00000555280,,,MODIFIER,,,,1","-","ENSG00000178974","ENST00000313833","Transcript","frameshift_variant","frameshift_variant","480/3348","353/2136","118/711","E/X","gAa/ga",null,null,1,"FBXO34","HGNC","HGNC:20201","protein_coding","YES","CCDS32086.1","ENSP00000313159","Q9NWN3.134","A0A024R653.45","UPI00001FD5AD",null,"NM_017943.4","NM_017943.4","P1",{"$nulls":3},"2024-02-02",null,"PANTHER:PTHR16271:SF11;PANTHER:PTHR16271",{"$nulls":41},"HIGH",1,"deletion",1,5,null,null,"CCAAGGAAAAAA","c40656fa-71a5-437c-8af2-5c9f28a918b8","7f3a390b-2f2b-4a19-a76d-f99aa089764a","f07070c0-fd0a-4c19-ba1e-5f06b933cd7c",null,"COSM1370163","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["ISLR2",57611,"BI","GRCh38","chr15",74134771,74134771,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-B7-5816","TCGA-B7-5816-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7","a2c1f792-39dd-4c35-8868-4be46623e3f0","c.2017C>T","p.Gln673Ter","p.Q673*","ENST00000361742","2024-04-04",68,57,10,55,null,null,"ISLR2,stop_gained,p.Q673*,ENST00000361742,NM_001130136.1,c.2017C>T,HIGH,YES,,,1;ISLR2,stop_gained,p.Q673*,ENST00000435464,NM_001130138.1,c.2017C>T,HIGH,,,,1;ISLR2,stop_gained,p.Q673*,ENST00000453268,NM_020851.3,c.2017C>T,HIGH,,,,1;ISLR2,stop_gained,p.Q673*,ENST00000565159,NM_001130137.1,c.2017C>T,HIGH,,,,1;ISLR2,stop_gained,p.Q673*,ENST00000565540,,c.2017C>T,HIGH,,,,1;ISLR2,stop_gained,p.Q262*,ENST00000419208,,c.784C>T,HIGH,,,,1;ISLR2,downstream_gene_variant,,ENST00000561740,,,MODIFIER,,,,1;ISLR2,downstream_gene_variant,,ENST00000565332,,,MODIFIER,,,,1;ISLR2,downstream_gene_variant,,ENST00000567206,,,MODIFIER,,,,1;ISLR2,downstream_gene_variant,,ENST00000569886,,,MODIFIER,,,,1;ISLR2,intron_variant,,ENST00000561975,,n.338+3455C>T,MODIFIER,,,,1;ISLR2,downstream_gene_variant,,ENST00000565068,,,MODIFIER,,,,1","T","ENSG00000167178","ENST00000361742","Transcript","stop_gained","stop_gained","2786/4817","2017/2238","673/745","Q/*","Cag/Tag","COSV62301635",null,1,"ISLR2","HGNC","HGNC:29286","protein_coding","YES","CCDS10259.1","ENSP00000355402","Q6UXK2.138",null,"UPI000004C60F",null,"NM_001130136.1",null,"P1",{"$nulls":3},"2024-04-04",null,"PANTHER:PTHR24366;PANTHER:PTHR24366:SF15;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"ACGTGCAGGGG","c40656fa-71a5-437c-8af2-5c9f28a918b8","7f3a390b-2f2b-4a19-a76d-f99aa089764a","f07070c0-fd0a-4c19-ba1e-5f06b933cd7c",null,"COSM4056830","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CABIN1",23523,"BI","GRCh38","chr22",24067041,24067041,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-B7-5816","TCGA-B7-5816-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f844b521-1ff0-4e58-9d70-9f7dc0ed0ee7","a2c1f792-39dd-4c35-8868-4be46623e3f0","c.2092C>G","p.Arg698Gly","p.R698G","ENST00000263119","16/37",90,74,16,92,null,null,"CABIN1,missense_variant,p.R698G,ENST00000398319,NM_001199281.1,c.2092C>G,MODERATE,YES,deleterious(0),probably_damaging(0.987),1;CABIN1,missense_variant,p.R698G,ENST00000263119,NM_012295.4,c.2092C>G,MODERATE,,deleterious(0),probably_damaging(0.987),1;CABIN1,missense_variant,p.R648G,ENST00000617531,NM_001201429.1,c.1942C>G,MODERATE,,deleterious(0),probably_damaging(0.999),1;CABIN1,missense_variant,p.R648G,ENST00000405822,,c.1942C>G,MODERATE,,deleterious(0),probably_damaging(0.994),1;CABIN1,non_coding_transcript_exon_variant,,ENST00000484593,,n.37C>G,MODIFIER,,,,1","G","ENSG00000099991","ENST00000263119","Transcript","missense_variant","missense_variant","2230/7233","2092/6663","698/2220","R/G","Cgg/Ggg","COSV54077586",null,1,"CABIN1","HGNC","HGNC:24187","protein_coding",null,"CCDS13823.1","ENSP00000263119","Q9Y6J0.184","A0A024R1E5.48","UPI0000126D6C","Q9Y6J0-1","NM_012295.4","NM_012295.4","P4",null,"deleterious(0)","probably_damaging(0.987)","16/37",null,"PANTHER:PTHR15502;Superfamily:SSF48452",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TTCAGCGGCTG","c40656fa-71a5-437c-8af2-5c9f28a918b8","7f3a390b-2f2b-4a19-a76d-f99aa089764a","f07070c0-fd0a-4c19-ba1e-5f06b933cd7c",null,"COSM4103021","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDC73",79577,"BI","GRCh38","chr1",193152426,193152426,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8382","TCGA-BR-8382-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"fe42ed1d-e913-4214-a3a4-7baf5288dbb7","a0801674-6113-406a-af1c-7e4f6c61d55f","c.954G>A","p.Met318Ile","p.M318I","ENST00000367435","2024-10-17",29,22,7,43,null,null,"CDC73,missense_variant,p.M318I,ENST00000367435,NM_024529.5,c.954G>A,MODERATE,YES,tolerated(0.09),possibly_damaging(0.742),1;CDC73,intron_variant,,ENST00000635846,,c.729+10360G>A,MODIFIER,,,,1;CDC73,non_coding_transcript_exon_variant,,ENST00000649606,,n.967G>A,MODIFIER,,,,1;CDC73,non_coding_transcript_exon_variant,,ENST00000649895,,n.1172G>A,MODIFIER,,,,1;CDC73,non_coding_transcript_exon_variant,,ENST00000647662,,n.855G>A,MODIFIER,,,,1;CDC73,missense_variant,p.M318I,ENST00000643006,,c.954G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.476),1;CDC73,missense_variant,p.M318I,ENST00000650197,,c.954G>A,MODERATE,,tolerated(0.06),benign(0.336),1;CDC73,3_prime_UTR_variant,,ENST00000648071,,c.*930G>A,MODIFIER,,,,1;CDC73,downstream_gene_variant,,ENST00000643784,,,MODIFIER,,,,1","A","ENSG00000134371","ENST00000367435","Transcript","missense_variant","missense_variant","1124/5869","954/1596","318/531","M/I","atG/atA","COSV100814078",null,1,"CDC73","HGNC","HGNC:16783","protein_coding","YES","CCDS1382.1","ENSP00000356405","Q6P1J9.170",null,"UPI0000021592",null,"NM_024529.5","NM_024529.5","P1",null,"tolerated(0.09)","possibly_damaging(0.742)","2024-10-17",null,"PANTHER:PTHR12466",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGTATGACACT","0f43b98f-8ae8-4c1e-b439-5c678ea84e84","0e28365a-ffbe-4b35-b89f-291c7f125eed","e617b5c5-55ca-47a7-8497-854ab2844818",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KIAA1109",84162,"BI","GRCh38","chr4",122281586,122281586,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8382","TCGA-BR-8382-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"fe42ed1d-e913-4214-a3a4-7baf5288dbb7","a0801674-6113-406a-af1c-7e4f6c61d55f","c.8849C>A","p.Thr2950Asn","p.T2950N","ENST00000264501","52/86",61,49,12,57,null,null,"KIAA1109,missense_variant,p.T2950N,ENST00000264501,,c.8849C>A,MODERATE,YES,tolerated(0.11),benign(0.367),1;KIAA1109,missense_variant,p.T2950N,ENST00000388738,NM_015312.3,c.8849C>A,MODERATE,,tolerated(0.11),benign(0.367),1;KIAA1109,missense_variant,p.T908N,ENST00000419325,,c.2723C>A,MODERATE,,tolerated(0.12),possibly_damaging(0.697),1","A","ENSG00000138688","ENST00000264501","Transcript","missense_variant","missense_variant","9222/15896","8849/15018","2950/5005","T/N","aCc/aAc","COSV52681109",null,1,"KIAA1109","HGNC","HGNC:26953","protein_coding","YES","CCDS43267.1","ENSP00000264501","Q2LD37.118",null,"UPI0000DD87B4","Q2LD37-1",null,null,"P1",null,"tolerated(0.11)","benign(0.367)","52/86",null,"PANTHER:PTHR31640;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":19},"6.767269951524213e-06",0,0,"6.639219645876437e-05",0,0,0,0,0,0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"AAAAACCCCAA","0f43b98f-8ae8-4c1e-b439-5c678ea84e84","0e28365a-ffbe-4b35-b89f-291c7f125eed","e617b5c5-55ca-47a7-8497-854ab2844818",null,"COSM4121815;COSM4121816","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FANCG",2189,"BI","GRCh38","chr9",35079506,35079506,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8382","TCGA-BR-8382-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"fe42ed1d-e913-4214-a3a4-7baf5288dbb7","a0801674-6113-406a-af1c-7e4f6c61d55f","c.19T>G","p.Ser7Ala","p.S7A","ENST00000378643","2024-01-14",127,101,26,84,null,null,"FANCG,missense_variant,p.S7A,ENST00000378643,NM_004629.2,c.19T>G,MODERATE,YES,tolerated_low_confidence(1),benign(0),-1;FANCG,missense_variant,p.S7A,ENST00000448890,,c.19T>G,MODERATE,,tolerated_low_confidence(1),benign(0),-1;FANCG,upstream_gene_variant,,ENST00000476212,,,MODIFIER,,,,-1;FANCG,missense_variant,p.S7A,ENST00000425676,,c.19T>G,MODERATE,,tolerated_low_confidence(0.99),benign(0),-1;VCP,non_coding_transcript_exon_variant,,ENST00000676836,,n.421T>G,MODIFIER,,,,-1;FANCG,non_coding_transcript_exon_variant,,ENST00000462124,,n.164T>G,MODIFIER,,,,-1;FANCG,upstream_gene_variant,,ENST00000461149,,,MODIFIER,,,,-1;FANCG,upstream_gene_variant,,ENST00000474894,,,MODIFIER,,,,-1;FANCG,upstream_gene_variant,,ENST00000481254,,,MODIFIER,,,,-1","C","ENSG00000221829","ENST00000378643","Transcript","missense_variant","missense_variant","437/2556","19/1869","7/622","S/A","Tct/Gct","COSV66213726;COSV66213869",null,-1,"FANCG","HGNC","HGNC:3588","protein_coding","YES","CCDS6574.1","ENSP00000367910","O15287.195","Q53XM5.126","UPI0000000CB4",null,"NM_004629.2","NM_004629.2","P1",null,"tolerated_low_confidence(1)","benign(0)","2024-01-14",null,"PANTHER:PTHR15254",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"CACAGAGGTGG","0f43b98f-8ae8-4c1e-b439-5c678ea84e84","0e28365a-ffbe-4b35-b89f-291c7f125eed","e617b5c5-55ca-47a7-8497-854ab2844818",null,"COSM3907080","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADCY9",115,"BI","GRCh38","chr16",3989075,3989075,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-BR-8382","TCGA-BR-8382-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"fe42ed1d-e913-4214-a3a4-7baf5288dbb7","a0801674-6113-406a-af1c-7e4f6c61d55f","c.2229del","p.Phe743LeufsTer10","p.F743Lfs*10","ENST00000294016","2024-06-11",74,57,16,97,null,null,"ADCY9,frameshift_variant,p.F743Lfs*10,ENST00000294016,NM_001116.4,c.2229del,HIGH,YES,,,-1;ADCY9,downstream_gene_variant,,ENST00000572288,,,MODIFIER,,,,-1;ADCY9,upstream_gene_variant,,ENST00000576936,,,MODIFIER,,,,-1;ADCY9,non_coding_transcript_exon_variant,,ENST00000575550,,n.439del,MODIFIER,,,,-1;ADCY9,downstream_gene_variant,,ENST00000571889,,,MODIFIER,,,,-1;ADCY9,downstream_gene_variant,,ENST00000571467,,,MODIFIER,,,,-1;ADCY9,upstream_gene_variant,,ENST00000574721,,,MODIFIER,,,,-1","-","ENSG00000162104","ENST00000294016","Transcript","frameshift_variant","frameshift_variant","3025/7980","2229/4062","743/1353","F/X","ttT/tt",null,null,-1,"ADCY9","HGNC","HGNC:240","protein_coding","YES","CCDS32382.1","ENSP00000294016","O60503.176",null,"UPI000012887F",null,"NM_001116.4","NM_001116.4","P1",{"$nulls":3},"2024-06-11",null,"PANTHER:PTHR45627;PANTHER:PTHR45627:SF8",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"CGGCTTAAAAAA","0f43b98f-8ae8-4c1e-b439-5c678ea84e84","0e28365a-ffbe-4b35-b89f-291c7f125eed","e617b5c5-55ca-47a7-8497-854ab2844818",null,"COSM1377876","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TGIF2",60436,"BI","GRCh38","chr20",36591136,36591136,"+","Frame_Shift_Del","DEL","A","A","-","novel",null,"TCGA-BR-8382","TCGA-BR-8382-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"fe42ed1d-e913-4214-a3a4-7baf5288dbb7","a0801674-6113-406a-af1c-7e4f6c61d55f","c.422del","p.Lys141SerfsTer18","p.K141Sfs*18","ENST00000373872","2024-03-03",98,81,17,95,null,null,"TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000373874,NM_001199513.1,c.422del,HIGH,YES,,,1;TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000373872,NM_021809.7&NM_001199514.2,c.422del,HIGH,,,,1;TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000611732,NM_001199515.1,c.422del,HIGH,,,,1;TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000650844,,c.422del,HIGH,,,,1;TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000560025,,c.422del,HIGH,,,,1;TGIF2,frameshift_variant,p.K141Sfs*18,ENST00000558028,,c.422del,HIGH,,,,1;TGIF2,intron_variant,,ENST00000557885,,c.240+130del,MODIFIER,,,,1;TGIF2,intron_variant,,ENST00000558465,,c.43-417del,MODIFIER,,,,1;TGIF2-RAB5IF,intron_variant,,ENST00000558530,NM_001199535.2,c.192+12173del,MODIFIER,YES,,,1;TGIF2,intron_variant,,ENST00000561398,,c.161-366del,MODIFIER,,,,1","-","ENSG00000118707","ENST00000373872","Transcript","frameshift_variant","frameshift_variant","602/3416","419/714","140/237","E/X","gAa/ga",null,null,1,"TGIF2","HGNC","HGNC:15764","protein_coding",null,"CCDS13278.1","ENSP00000362979","Q9GZN2.170",null,"UPI0000136CC1","Q9GZN2-1","NM_021809.7;NM_001199514.2","NM_021809.7","P1",{"$nulls":3},"2024-03-03",null,"PANTHER:PTHR11850;PANTHER:PTHR11850:SF68",{"$nulls":41},"HIGH",null,"deletion",1,3,null,null,"AGGGGGAAAAGC","0f43b98f-8ae8-4c1e-b439-5c678ea84e84","0e28365a-ffbe-4b35-b89f-291c7f125eed","e617b5c5-55ca-47a7-8497-854ab2844818",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["OR4F6",390648,"BI","GRCh38","chr15",101806083,101806083,"+","Nonsense_Mutation","SNP","C","C","T","rs775466060",null,"TCGA-FP-A9TM","TCGA-FP-A9TM-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"9ccbd835-08f9-4195-8e99-3b872dfa23be","2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc","c.364C>T","p.Arg122Ter","p.R122*","ENST00000328882","2024-02-02",280,260,20,277,null,null,"OR4F6,stop_gained,p.R122*,ENST00000328882,NM_001005326.1,c.364C>T,HIGH,YES,,,1","T","ENSG00000184140","ENST00000328882","Transcript","stop_gained","stop_gained","434/1238","364/939","122/312","R/*","Cga/Tga","rs775466060;COSV100187024;COSV61027475",null,1,"OR4F6","HGNC","HGNC:15372","protein_coding","YES","CCDS32341.1","ENSP00000327525","Q8NGB9.136","A0A126GV96.32","UPI0000041BF4",null,"NM_001005326.1",null,"P1",{"$nulls":3},"2024-02-02",null,"Gene3D:1.20.1070.10;Pfam:PF13853;Prints:PR00237;PROSITE_patterns:PS00237;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF441;Superfamily:SSF81321;CDD:cd15226",{"$nulls":8},"1.591e-05",0,0,0,"5.437e-05",0,0,0,"9.8e-05","9.8e-05","gnomAD_SAS","1.3527000191970728e-05","2.4333299734280445e-05",0,0,0,0,0,0,"1.5435900422744453e-05",0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"HIGH",1,"SNV",null,null,"0;1;1",null,"TTGACCGATAT","ed733eda-ad5e-4d66-a81f-ec0b6e576f2e","95d6ad2c-9ba2-4acb-a47c-c8ed46357ab6","36abeaf9-cc0f-43dd-9c55-b9347d826529",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["MROH5",389690,"BI","GRCh38","chr8",141448022,141448022,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-B7-A5TK","TCGA-B7-A5TK-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"846b9e77-5eed-4578-87c3-a0e69cfb1145","5c1335ac-3d08-4000-bcfc-a3576e72d01c","c.2704C>T","p.Pro902Ser","p.P902S","ENST00000621837","21/31",24,19,4,22,null,null,"MROH5,missense_variant,p.P902S,ENST00000621837,,c.2704C>T,MODERATE,YES,tolerated(0.1),probably_damaging(0.996),-1;AC100803.1,downstream_gene_variant,,ENST00000458800,,,MODIFIER,YES,,,1;MROH5,3_prime_UTR_variant,,ENST00000521053,,c.*2247C>T,MODIFIER,,,,-1;MROH5,3_prime_UTR_variant,,ENST00000523857,,c.*2515C>T,MODIFIER,,,,-1;MROH5,missense_variant,p.P902S,ENST00000430863,,c.2704C>T,MODERATE,,deleterious(0.05),probably_damaging(1),-1","A","ENSG00000226807","ENST00000621837","Transcript","missense_variant","missense_variant","2785/4164","2704/3954","902/1317","P/S","Ccc/Tcc","COSV101436006",null,-1,"MROH5","HGNC","HGNC:42976","protein_coding","YES",null,"ENSP00000481783",null,"A0A087WYG4.36","UPI0004E4CC08",{"$nulls":3},"P1",null,"tolerated(0.1)","probably_damaging(0.996)","21/31",null,"PANTHER:PTHR23120:SF6;PANTHER:PTHR23120;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CTTGGGGTAGC","6ab2931f-9841-44c9-a491-24e433bf4ae3","2f8ce423-c0db-4656-a4a9-392d1642b1db","4ed55013-3853-48ea-909f-7d26d5055637",null,null,"N","Unknown",{"$nulls":3},"muse;varscan2"]
["ABT1",29777,"BI","GRCh38","chr6",26598400,26598400,"+","Missense_Mutation","SNP","G","G","A","rs782771069",null,"TCGA-BR-4357","TCGA-BR-4357-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"bec6b643-3173-415d-8d12-b585c869018c","ec09774d-f21b-4b96-b757-f534d4e4375c","c.574G>A","p.Gly192Arg","p.G192R","ENST00000274849","2024-03-03",106,82,24,92,null,null,"ABT1,missense_variant,p.G192R,ENST00000274849,NM_013375.4,c.574G>A,MODERATE,YES,tolerated(0.08),possibly_damaging(0.778),1;AL513548.3,upstream_gene_variant,,ENST00000611708,,,MODIFIER,,,,1","A","ENSG00000146109","ENST00000274849","Transcript","missense_variant","missense_variant","604/2943","574/819","192/272","G/R","Gga/Aga","rs782771069;COSV51291961",null,1,"ABT1","HGNC","HGNC:17369","protein_coding","YES","CCDS4616.1","ENSP00000274849","Q9ULW3.164","A0A024R029.51","UPI0000062314",null,"NM_013375.4","NM_013375.4","P1",null,"tolerated(0.08)","possibly_damaging(0.778)","2024-03-03",null,"PANTHER:PTHR12311",{"$nulls":8},"1.591e-05",0,"8.673e-05",0,0,0,"8.795e-06",0,0,"8.673e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AACGGGGACAA","785d5702-0dcf-4df2-b360-c10d6e64a8ce","63c4d5a7-0ea6-4ca5-b31a-acdab1b80be6","bec83dff-2bba-4467-92aa-5dc3db9e0eaf",null,"COSM3861020","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EHD2",30846,"BI","GRCh38","chr19",47716776,47716776,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-7958","TCGA-BR-7958-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"e8458b60-539c-4108-a0ca-142592ed3a0a","d3d47851-0b03-4653-a7c0-79a26d9aae84","c.164T>G","p.Phe55Cys","p.F55C","ENST00000263277","2024-02-06",100,56,43,90,null,null,"EHD2,missense_variant,p.F55C,ENST00000263277,NM_014601.4,c.164T>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;EHD2,intron_variant,,ENST00000538399,,c.-4-1733T>G,MODIFIER,,,,1;AC010519.1,intron_variant,,ENST00000599924,,n.87-15289T>G,MODIFIER,YES,,,1","G","ENSG00000024422","ENST00000263277","Transcript","missense_variant","missense_variant","336/3506","164/1632","55/543","F/C","tTc/tGc","COSV54410275",null,1,"EHD2","HGNC","HGNC:3243","protein_coding","YES","CCDS12704.1","ENSP00000263277","Q9NZN4.174","A0A024R0S6.42","UPI0000071B66","Q9NZN4-1","NM_014601.4","NM_014601.4","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-02-06",null,"PROSITE_profiles:PS51718;PANTHER:PTHR11216;PANTHER:PTHR11216:SF62;Pfam:PF16880;Gene3D:1.10.268.20;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGACTTCGACG","ca67fb36-5d4f-4993-ae9b-873d3c573f76","29e88296-de2a-4a1a-8d1a-3a3287cefad4","1fb6c06e-ecf4-4b4c-bb15-df8c0a9fad8f",null,"COSM4079765","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZHX3",23051,"BI","GRCh38","chr20",41204170,41204170,"+","Missense_Mutation","SNP","G","G","T","rs201454849",null,"TCGA-BR-8682","TCGA-BR-8682-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"ea2055d1-7b8b-4aaf-9a70-8802f4deef9b","e959d24d-aab8-4a7e-a29c-5e2370ddcad8","c.747C>A","p.Asn249Lys","p.N249K","ENST00000309060","2024-04-05",161,140,21,120,null,null,"ZHX3,missense_variant,p.N249K,ENST00000309060,,c.747C>A,MODERATE,,tolerated(0.91),benign(0),-1;ZHX3,missense_variant,p.N249K,ENST00000559234,,c.747C>A,MODERATE,,tolerated(0.91),benign(0),-1;ZHX3,missense_variant,p.N249K,ENST00000560361,,c.747C>A,MODERATE,,tolerated(0.91),benign(0),-1;ZHX3,missense_variant,p.N249K,ENST00000544979,,c.747C>A,MODERATE,YES,tolerated(0.91),benign(0),-1;ZHX3,missense_variant,p.N249K,ENST00000432768,NM_015035.4,c.747C>A,MODERATE,,tolerated(0.91),benign(0),-1;ZHX3,intron_variant,,ENST00000558993,,c.672+75C>A,MODIFIER,,,,-1;ZHX3,intron_variant,,ENST00000560364,,c.672+75C>A,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000373261,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000419740,,,MODIFIER,,,,-1;ZHX3,upstream_gene_variant,,ENST00000421422,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000436099,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000436440,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000441102,,,MODIFIER,,,,-1;ZHX3,upstream_gene_variant,,ENST00000559436,,,MODIFIER,,,,-1","T","ENSG00000174306","ENST00000309060","Transcript","missense_variant","missense_variant","1163/10030","747/2871","249/956","N/K","aaC/aaA","rs201454849;CM121425;COSV58380689",null,-1,"ZHX3","HGNC","HGNC:15935","protein_coding",null,"CCDS13315.1","ENSP00000312222","Q9H4I2.174",null,"UPI000000D72C","Q9H4I2-1",null,null,"P1",null,"tolerated(0.91)","benign(0)","2024-04-05",null,"PANTHER:PTHR15467;PANTHER:PTHR15467:SF6",0.0002,0,1.4E-3,0,0,0,null,null,"6.497e-05",0,"2.932e-05",0,0.0001635,0,"5.382e-05",0,0.0002038,1.4E-3,"AMR","6.760499672964215e-05","4.8642901674611494e-05",0,1.98754001758061E-4,0,0,0,0,"4.6300599933601916e-05",0,4.17014001868665E-4,4.17014001868665E-4,"sas",null,"0;0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1;1",null,"TGGGGGTTTTT","9deef8cb-456d-4c86-b872-b8727a2db97d","cce4c545-3da6-481f-a88a-691d985fdd2d","d5efcde2-21e6-4071-9aa4-3c5688a45b3f",null,"COSM419400","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OBP2B",29989,"BI","GRCh38","chr9",133208159,133208159,"+","Missense_Mutation","SNP","G","G","A","rs782276020",null,"TCGA-BR-A4J5","TCGA-BR-A4J5-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"7b148cca-4cd0-4de6-9d42-c7e547a95b72","1fa30850-4b3d-41f4-9dc8-7227d3a617ed","c.251C>T","p.Thr84Met","p.T84M","ENST00000372034","2024-03-07",50,45,5,80,null,null,"OBP2B,missense_variant,p.T84M,ENST00000618116,NM_001288987.1,c.251C>T,MODERATE,,deleterious(0.05),probably_damaging(0.998),-1;OBP2B,missense_variant,p.T84M,ENST00000372032,,c.251C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.803),-1;OBP2B,missense_variant,p.T84M,ENST00000372034,NM_014581.3,c.251C>T,MODERATE,,deleterious(0.05),probably_damaging(0.998),-1;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,,n.159C>T,MODIFIER,,,,-1;OBP2B,missense_variant,p.T84M,ENST00000473737,,c.251C>T,MODERATE,,deleterious(0.05),probably_damaging(0.994),-1","A","ENSG00000171102","ENST00000372034","Transcript","missense_variant","missense_variant","293/691","251/513","84/170","T/M","aCg/aTg","rs782276020;COSV100922879",null,-1,"OBP2B","HGNC","HGNC:23381","protein_coding",null,"CCDS6961.1","ENSP00000361104","Q9NPH6.143",null,"UPI00000377BC","Q9NPH6-1","NM_014581.3",null,"P1",null,"deleterious(0.05)","probably_damaging(0.998)","2024-03-07",null,"PANTHER:PTHR11430:SF124;PANTHER:PTHR11430;Pfam:PF00061;Gene3D:2.40.128.20;Superfamily:SSF50814;Prints:PR01175",{"$nulls":8},"3.585e-05",0,"2.893e-05",0,0,0,"5.291e-05",0,"6.534e-05","6.534e-05","gnomAD_SAS","7.453180296579376e-05","2.442719960527029e-05",0,0,0,0,0,0.00328946998342871,0.000108152002212591,0.000497017987072467,2.08680998184718E-4,0.000108152002212591,"nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CCTCCGTCTTC","edb88847-7f2a-4b55-86c5-a1c54f2cbdd3","d77029a6-72dc-4b7c-8917-43b3d6ac65d2","5a12857b-4132-4089-a7b7-e706366102db",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ETAA1",54465,"BI","GRCh38","chr2",67404896,67404896,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8286","TCGA-BR-8286-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"e0d70de9-86fb-406d-8959-9089f3a44127","8fb6969d-2604-44c5-88ff-6fdd69c9a472","c.2214G>T","p.Met738Ile","p.M738I","ENST00000272342","2024-05-06",49,38,11,82,null,null,"ETAA1,missense_variant,p.M738I,ENST00000272342,NM_019002.4,c.2214G>T,MODERATE,YES,tolerated(0.74),benign(0),1;ETAA1,intron_variant,,ENST00000644028,,c.543-340G>T,MODIFIER,,,,1;ETAA1,intron_variant,,ENST00000462772,,c.*2808-101G>T,MODIFIER,,,,1;ETAA1,intron_variant,,ENST00000645739,,c.*109-101G>T,MODIFIER,,,,1","T","ENSG00000143971","ENST00000272342","Transcript","missense_variant","missense_variant","2330/4948","2214/2781","738/926","M/I","atG/atT","COSV55472071",null,1,"ETAA1","HGNC","HGNC:24648","protein_coding","YES","CCDS1882.1","ENSP00000272342","Q9NY74.118",null,"UPI00001414BC",null,"NM_019002.4","NM_019002.4","P1",null,"tolerated(0.74)","benign(0)","2024-05-06",null,"PANTHER:PTHR16434;Pfam:PF15350",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACTATGTATTC","27aff6a4-3065-4f26-a2f7-c8918e56b7ea","f1a1b671-5f4f-4cc9-9443-edc64902c2a3","7d915d11-729c-4577-a948-9824a8b033ce",null,"COSM4095210","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["VPS13B",157680,"BI","GRCh38","chr8",99038443,99038443,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-HJ-7597","TCGA-HJ-7597-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4ee062d-fdb6-4be6-8b39-9bf71779e3a0","bb03ccca-057f-49ae-8ca9-2aad7a5082b1","c.173del","p.Leu58Ter","p.L58*","ENST00000358544","3/62",23,14,9,42,null,null,"VPS13B,frameshift_variant,p.L58*,ENST00000358544,NM_017890.5,c.173del,HIGH,YES,,,1;VPS13B,frameshift_variant,p.L58*,ENST00000357162,NM_152564.5,c.173del,HIGH,,,,1;VPS13B,frameshift_variant,p.L58*,ENST00000355155,NM_015243.3,c.173del,HIGH,,,,1;VPS13B,frameshift_variant,p.L58*,ENST00000441350,NM_181661.3,c.173del,HIGH,,,,1;VPS13B,frameshift_variant,p.L58*,ENST00000496144,,c.173del,HIGH,,,,1","-","ENSG00000132549","ENST00000358544","Transcript","frameshift_variant","frameshift_variant","279/14094","168/12069","56/4022","T/X","acT/ac",null,null,1,"VPS13B","HGNC","HGNC:2183","protein_coding","YES","CCDS6280.1","ENSP00000351346","Q7Z7G8.140",null,"UPI00001D2D35","Q7Z7G8-1","NM_017890.5",null,"P4",{"$nulls":3},"3/62",null,"Pfam:PF12624;PANTHER:PTHR12517",{"$nulls":41},"HIGH",1,"deletion",1,5,null,1,"ATTCACTTTTTT","bf63722c-8f5a-4b82-8748-97ab548344f5","4e398dec-d04b-45d0-931d-479af5a62d8a","83d681f4-6c0e-45cc-a31d-0b1b31c8e073",null,"COSM1241889;COSM1241890;COSM4338658;COSM4611854","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["KRT23",25984,"BI","GRCh38","chr17",40936239,40936239,"+","Missense_Mutation","SNP","T","T","C","rs201868895",null,"TCGA-HJ-7597","TCGA-HJ-7597-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4ee062d-fdb6-4be6-8b39-9bf71779e3a0","bb03ccca-057f-49ae-8ca9-2aad7a5082b1","c.365A>G","p.Tyr122Cys","p.Y122C","ENST00000209718","2024-02-09",106,76,30,81,null,null,"KRT23,missense_variant,p.Y122C,ENST00000209718,NM_015515.5,c.365A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;KRT23,missense_variant,p.Y51C,ENST00000584517,,c.152A>G,MODERATE,,deleterious(0),probably_damaging(0.967),-1;KRT23,intron_variant,,ENST00000436344,NM_001282433.2,c.-16+889A>G,MODIFIER,,,,-1;KRT23,downstream_gene_variant,,ENST00000485751,,,MODIFIER,,,,-1;KRT23,downstream_gene_variant,,ENST00000582283,,,MODIFIER,,,,-1;KRT23,downstream_gene_variant,,ENST00000585006,,,MODIFIER,,,,-1;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,,n.597A>G,MODIFIER,,,,-1;KRT23,intron_variant,,ENST00000462312,,c.-16+889A>G,MODIFIER,,,,-1;KRT23,intron_variant,,ENST00000494691,,c.-16+889A>G,MODIFIER,,,,-1;AC004231.1,intron_variant,,ENST00000418393,,n.385+7557T>C,MODIFIER,YES,,,1","C","ENSG00000108244","ENST00000209718","Transcript","missense_variant","missense_variant","1016/2209","365/1269","122/422","Y/C","tAt/tGt","rs201868895;COSV52928999",null,-1,"KRT23","HGNC","HGNC:6438","protein_coding","YES","CCDS11380.1","ENSP00000209718","Q9C075.156","A0A024R1X9.45","UPI000013C66F","Q9C075-1","NM_015515.5","NM_015515.5","P1",null,"deleterious(0)","probably_damaging(0.999)","2024-02-09",null,"Gene3D:1.20.5.1160;Pfam:PF00038;PROSITE_profiles:PS51842;PANTHER:PTHR23239;PANTHER:PTHR23239:SF44;SMART:SM01391",0.0002,0,0,1E-3,0,0,null,null,"3.978e-06",0,0,0,"5.437e-05",0,0,0,0,1E-3,"EAS","6.75803994454327e-06",0,0,0,0,0.000201693997951224,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCTCATACTGG","bf63722c-8f5a-4b82-8748-97ab548344f5","4e398dec-d04b-45d0-931d-479af5a62d8a","83d681f4-6c0e-45cc-a31d-0b1b31c8e073",null,"COSM4066264","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EPHA2",1969,"BI","GRCh38","chr1",16148698,16148698,"+","Missense_Mutation","SNP","C","C","T","rs756877965",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.503G>A","p.Arg168His","p.R168H","ENST00000358432","2024-03-17",54,31,23,90,null,null,"EPHA2,missense_variant,p.R168H,ENST00000358432,NM_001329090.2&NM_004431.5,c.503G>A,MODERATE,YES,deleterious(0),probably_damaging(0.982),-1;EPHA2,non_coding_transcript_exon_variant,,ENST00000461614,,n.555G>A,MODIFIER,,,,-1;EPHA2,upstream_gene_variant,,ENST00000480202,,,MODIFIER,,,,-1","T","ENSG00000142627","ENST00000358432","Transcript","missense_variant","missense_variant","640/3946","503/2931","168/976","R/H","cGc/cAc","rs756877965;COSV64453725",null,-1,"EPHA2","HGNC","HGNC:3386","protein_coding","YES","CCDS169.1","ENSP00000351209","P29317.231","A0A024QZA8.48","UPI00000731AB","P29317-1","NM_001329090.2;NM_004431.5","NM_004431.5","P1",null,"deleterious(0)","probably_damaging(0.982)","2024-03-17",null,"PDB-ENSP_mappings:2x10.A;PDB-ENSP_mappings:2x11.A;PDB-ENSP_mappings:3c8x.A;PDB-ENSP_mappings:3czu.A;PDB-ENSP_mappings:3fl7.A;PDB-ENSP_mappings:3hei.A;PDB-ENSP_mappings:3hei.C;PDB-ENSP_mappings:3hei.E;PDB-ENSP_mappings:3hei.G;PDB-ENSP_mappings:3hei.I;PDB-ENSP_mappings:3hei.K;PDB-ENSP_mappings:3hei.M;PDB-ENSP_mappings:3hei.O;PDB-ENSP_mappings:3hpn.A;PDB-ENSP_mappings:3hpn.B;PDB-ENSP_mappings:3hpn.C;PDB-ENSP_mappings:3hpn.D;PDB-ENSP_mappings:3hpn.E;PDB-ENSP_mappings:3hpn.F;PDB-ENSP_mappings:3mbw.A;PDB-ENSP_mappings:3mx0.A;PDB-ENSP_mappings:3mx0.C;PDB-ENSP_mappings:3skj.E;PDB-ENSP_mappings:3skj.F;PDB-ENSP_mappings:6b9l.A;PDB-ENSP_mappings:6b9l.B;PDB-ENSP_mappings:6b9l.C;PDB-ENSP_mappings:6b9l.D;PDB-ENSP_mappings:6njz.A;PDB-ENSP_mappings:6njz.B;PDB-ENSP_mappings:6nk0.A;PDB-ENSP_mappings:6nk0.B;PDB-ENSP_mappings:6nk1.A;PDB-ENSP_mappings:6nk1.B;PDB-ENSP_mappings:6nk2.A;PDB-ENSP_mappings:6nk2.B;PDB-ENSP_mappings:6nkp.A;PDB-ENSP_mappings:6nkp.B;PDB-ENSP_mappings:6rw2.A;CDD:cd10480;PIRSF:PIRSF000666;Pfam:PF01404;Gene3D:2.60.120.260;SMART:SM00615;Superfamily:SSF49785;PROSITE_profiles:PS51550;PANTHER:PTHR24416;PANTHER:PTHR24416:SF306",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS","6.757119990652427e-06",0,0,0,0,0,0,0,"1.542919926578179e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CGGAGCGCTCC","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4024696","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCTD3",51133,"BI","GRCh38","chr1",215619192,215619192,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.1787T>C","p.Leu596Pro","p.L596P","ENST00000259154","17/18",168,120,48,200,null,null,"KCTD3,missense_variant,p.L596P,ENST00000259154,NM_001319295.2&NM_016121.5&NM_001319294.2,c.1787T>C,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;USH2A,downstream_gene_variant,,ENST00000307340,NM_206933.4,,MODIFIER,,,,-1;KCTD3,downstream_gene_variant,,ENST00000452413,,,MODIFIER,,,,1;USH2A,downstream_gene_variant,,ENST00000674083,,,MODIFIER,YES,,,-1;KCTD3,non_coding_transcript_exon_variant,,ENST00000495537,,n.948T>C,MODIFIER,,,,1;KCTD3,non_coding_transcript_exon_variant,,ENST00000465650,,n.406T>C,MODIFIER,,,,1","C","ENSG00000136636","ENST00000259154","Transcript","missense_variant","missense_variant","2169/4019","1787/2448","596/815","L/P","cTc/cCc","COSV52068113",null,1,"KCTD3","HGNC","HGNC:21305","protein_coding","YES","CCDS1515.1","ENSP00000259154","Q9Y597.161",null,"UPI0000071A2E","Q9Y597-1","NM_001319295.2;NM_016121.5;NM_001319294.2","NM_016121.5","P1",null,"deleterious(0)","probably_damaging(0.993)","17/18",null,"Gene3D:2.130.10.10;PANTHER:PTHR15859;PANTHER:PTHR15859:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATTACTCGATC","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4028067","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCN10A",6336,"BI","GRCh38","chr3",38709479,38709479,"+","Frame_Shift_Del","DEL","T","T","-","rs750400627",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.4280del","p.Lys1427SerfsTer2","p.K1427Sfs*2","ENST00000449082","25/28",121,86,35,157,null,null,"SCN10A,frameshift_variant,p.K1435Sfs*2,ENST00000655275,,c.4304del,HIGH,YES,,,-1;SCN10A,frameshift_variant,p.K1427Sfs*2,ENST00000449082,,c.4280del,HIGH,,,,-1;SCN10A,frameshift_variant,p.K1426Sfs*2,ENST00000643924,NM_001293306.2,c.4277del,HIGH,,,,-1;SCN10A,frameshift_variant,p.K1427Rfs*2,ENST00000643108,,c.4280del,HIGH,,,,-1;SCN10A,frameshift_variant,p.K1427Sfs*2,ENST00000644826,NM_001293307.2&NM_006514.3,c.4280del,HIGH,,,,-1","-","ENSG00000185313","ENST00000449082","Transcript","frameshift_variant","frameshift_variant;splice_region_variant","4493/6626","4280/5871","1427/1956","K/X","aAg/ag","rs750400627",null,-1,"SCN10A","HGNC","HGNC:10582","protein_coding",null,"CCDS33736.1","ENSP00000390600","Q9Y5Y9.161",null,"UPI0000209BDA",{"$nulls":3},"P4",{"$nulls":3},"25/28",null,"Pfam:PF00520;PANTHER:PTHR10037;PANTHER:PTHR10037:SF208;CDD:cd13433",{"$nulls":8},"4.185e-06",0,0,0,0,0,"9.168e-06",0,0,"9.168e-06","gnomAD_NFE",{"$nulls":22},"HIGH",null,"deletion",1,null,null,1,"CTTATCTTTTTT","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM2986949","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["SLC25A4",291,"BI","GRCh38","chr4",185144852,185144852,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.200T>C","p.Phe67Ser","p.F67S","ENST00000281456","2024-02-04",165,117,48,248,null,null,"SLC25A4,missense_variant,p.F67S,ENST00000281456,NM_001151.4,c.200T>C,MODERATE,YES,deleterious(0.01),benign(0.131),1;SLC25A4,missense_variant,p.F67S,ENST00000491736,,c.200T>C,MODERATE,,deleterious(0.02),benign(0.3),1","C","ENSG00000151729","ENST00000281456","Transcript","missense_variant","missense_variant","307/4415","200/897","67/298","F/S","tTc/tCc","COSV55669230",null,1,"SLC25A4","HGNC","HGNC:10990","protein_coding","YES","CCDS34114.1","ENSP00000281456","P12235.225","A0A0S2Z3H3.27","UPI0000125612",null,"NM_001151.4","NM_001151.4","P1",null,"deleterious(0.01)","benign(0.131)","2024-02-04",null,"PROSITE_profiles:PS50920;PANTHER:PTHR45635:SF13;PANTHER:PTHR45635;Gene3D:1.50.40.10;Pfam:PF00153;Superfamily:SSF103506;Prints:PR00927",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGGCTTCCTCT","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4123717","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MDN1",23195,"BI","GRCh38","chr6",89706134,89706134,"+","Frame_Shift_Del","DEL","A","A","-","rs35107588",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.8073del","p.Phe2691LeufsTer7","p.F2691Lfs*7","ENST00000369393","53/102",91,71,20,139,null,null,"MDN1,frameshift_variant,p.F2691Lfs*7,ENST00000369393,NM_014611.3,c.8073del,HIGH,YES,,,-1;MDN1,frameshift_variant,p.F2691Lfs*7,ENST00000629399,,c.8073del,HIGH,,,,-1","-","ENSG00000112159","ENST00000369393","Transcript","frameshift_variant","frameshift_variant","8260/18485","8073/16791","2691/5596","F/X","ttT/tt","rs35107588",null,-1,"MDN1","HGNC","HGNC:18302","protein_coding","YES","CCDS5024.1","ENSP00000358400","Q9NU22.174",null,"UPI000013C4B8",null,"NM_014611.3","NM_014611.3","P1",{"$nulls":3},"53/102",null,"PIRSF:PIRSF010340;PANTHER:PTHR43882;PANTHER:PTHR43882:SF2",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"AAGTTCAAAAAA","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM266917","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CNTLN",54875,"BI","GRCh38","chr9",17484476,17484476,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.4037A>G","p.Gln1346Arg","p.Q1346R","ENST00000380647","24/26",99,71,28,161,null,null,"CNTLN,missense_variant,p.Q1346R,ENST00000380647,NM_017738.4&NM_001365029.1,c.4037A>G,MODERATE,YES,deleterious(0.05),benign(0.007),1","G","ENSG00000044459","ENST00000380647","Transcript","missense_variant","missense_variant","4063/5518","4037/4221","1346/1406","Q/R","cAa/cGa","COSV52084534",null,1,"CNTLN","HGNC","HGNC:23432","protein_coding","YES","CCDS43789.1","ENSP00000370021","Q9NXG0.136",null,"UPI0000458809","Q9NXG0-2","NM_017738.4;NM_001365029.1","NM_017738.4","P2",null,"deleterious(0.05)","benign(0.007)","24/26",null,"PANTHER:PTHR18957",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGATCAAGTGG","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM3906403","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DGKZ",8525,"BI","GRCh38","chr11",46372648,46372648,"+","Missense_Mutation","SNP","C","C","T","rs977532548",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.1606C>T","p.Arg536Trp","p.R536W","ENST00000454345","13/32",75,43,31,106,null,null,"DGKZ,missense_variant,p.R536W,ENST00000454345,NM_001105540.2,c.1606C>T,MODERATE,YES,deleterious(0.01),probably_damaging(1),1;DGKZ,missense_variant,p.R364W,ENST00000343674,NM_201532.3,c.1090C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;DGKZ,missense_variant,p.R347W,ENST00000456247,NM_001199267.2,c.1039C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;DGKZ,missense_variant,p.R348W,ENST00000527911,NM_001199266.2,c.1042C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;DGKZ,missense_variant,p.R325W,ENST00000318201,NM_001199268.2,c.973C>T,MODERATE,,deleterious(0.01),benign(0.111),1;DGKZ,missense_variant,p.R352W,ENST00000532868,NM_201533.3,c.1054C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.707),1;DGKZ,missense_variant,p.R348W,ENST00000421244,NM_003646.4,c.1042C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;DGKZ,missense_variant,p.R126W,ENST00000528615,,c.376C>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;DGKZ,downstream_gene_variant,,ENST00000524448,,,MODIFIER,,,,1;DGKZ,upstream_gene_variant,,ENST00000524869,,,MODIFIER,,,,1;DGKZ,downstream_gene_variant,,ENST00000525242,,,MODIFIER,,,,1;MIR4688,upstream_gene_variant,,ENST00000577966,,,MODIFIER,YES,,,1;DGKZ,downstream_gene_variant,,ENST00000525434,,,MODIFIER,,,,1;DGKZ,upstream_gene_variant,,ENST00000529660,,,MODIFIER,,,,1;DGKZ,downstream_gene_variant,,ENST00000534215,,,MODIFIER,,,,1;DGKZ,3_prime_UTR_variant,,ENST00000524984,,c.*659C>T,MODIFIER,,,,1;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,,n.2661C>T,MODIFIER,,,,1;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,,n.966C>T,MODIFIER,,,,1;DGKZ,non_coding_transcript_exon_variant,,ENST00000527903,,n.368C>T,MODIFIER,,,,1;DGKZ,upstream_gene_variant,,ENST00000527211,,,MODIFIER,,,,1;DGKZ,downstream_gene_variant,,ENST00000527674,,,MODIFIER,,,,1;DGKZ,upstream_gene_variant,,ENST00000529698,,,MODIFIER,,,,1;DGKZ,downstream_gene_variant,,ENST00000533376,,,MODIFIER,,,,1","T","ENSG00000149091","ENST00000454345","Transcript","missense_variant","missense_variant","1731/4086","1606/3354","536/1117","R/W","Cgg/Tgg","rs977532548;COSV58990803",null,1,"DGKZ","HGNC","HGNC:2857","protein_coding","YES","CCDS41640.1","ENSP00000412178","Q13574.199",null,"UPI000013DB71","Q13574-1","NM_001105540.2",{"$nulls":3},"deleterious(0.01)","probably_damaging(1)","13/32",null,"PROSITE_profiles:PS50146;PANTHER:PTHR11255;PANTHER:PTHR11255:SF43;Gene3D:3.40.50.10330;Pfam:PF00781;SMART:SM00046;Superfamily:SSF111331",{"$nulls":8},"3.988e-06",0,0,0,0,0,"8.829e-06",0,0,"8.829e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"ACCTGCGGATC","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4032976;COSM4032977;COSM4032978;COSM4032979","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BRCA2",675,"BI","GRCh38","chr13",32339210,32339210,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.4855A>G","p.Asn1619Asp","p.N1619D","ENST00000380152","2024-11-27",118,82,36,179,null,null,"BRCA2,missense_variant,p.N1619D,ENST00000380152,NM_000059.4,c.4855A>G,MODERATE,YES,tolerated(0.36),benign(0.003),1;BRCA2,missense_variant,p.N1619D,ENST00000544455,,c.4855A>G,MODERATE,,tolerated(0.36),benign(0.003),1;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,,n.4855A>G,MODIFIER,,,,1","G","ENSG00000139618","ENST00000380152","Transcript","missense_variant","missense_variant","5054/11954","4855/10257","1619/3418","N/D","Aat/Gat","COSV66456645",null,1,"BRCA2","HGNC","HGNC:1101","protein_coding","YES","CCDS9344.1","ENSP00000369497","P51587.222",null,"UPI00001FCBCC",null,"NM_000059.4","NM_000059.4","P1",null,"tolerated(0.36)","benign(0.003)","2024-11-27",null,"PIRSF:PIRSF002397;PANTHER:PTHR11289",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"GTGATAATTTA","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4047077;COSM4047078","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO9A",4649,"BI","GRCh38","chr15",71899791,71899791,"+","Missense_Mutation","SNP","T","T","C","rs201961799",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.3366A>G","p.Ile1122Met","p.I1122M","ENST00000356056","24/42",87,47,39,154,null,null,"MYO9A,missense_variant,p.I1122M,ENST00000356056,NM_006901.4,c.3366A>G,MODERATE,YES,deleterious(0.02),probably_damaging(0.972),-1;MYO9A,missense_variant,p.I1122M,ENST00000564571,,c.3366A>G,MODERATE,,deleterious(0.02),probably_damaging(1),-1;MYO9A,missense_variant,p.I1122M,ENST00000444904,,c.3366A>G,MODERATE,,deleterious(0.02),probably_damaging(0.972),-1;MYO9A,missense_variant,p.I742M,ENST00000566885,,c.2226A>G,MODERATE,,deleterious(0.01),probably_damaging(0.991),-1;MYO9A,upstream_gene_variant,,ENST00000561618,,,MODIFIER,,,,-1;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,,n.3382A>G,MODIFIER,,,,-1;MYO9A,downstream_gene_variant,,ENST00000566744,,,MODIFIER,,,,-1;MYO9A,upstream_gene_variant,,ENST00000568781,,,MODIFIER,,,,-1","C","ENSG00000066933","ENST00000356056","Transcript","missense_variant","missense_variant","3908/12478","3366/7647","1122/2548","I/M","atA/atG","rs201961799;COSV61853445",null,-1,"MYO9A","HGNC","HGNC:7608","protein_coding","YES","CCDS10239.1","ENSP00000348349","B2RTY4.119",null,"UPI000013D213","B2RTY4-1","NM_006901.4","NM_006901.4","P4",null,"deleterious(0.02)","probably_damaging(0.972)","24/42",null,"Pfam:PF00612;Gene3D:1.20.5.190;SMART:SM00015;Superfamily:SSF52540;PROSITE_profiles:PS50096;PANTHER:PTHR46184:SF3;PANTHER:PTHR46184",0.0002,0,0,1E-3,0,0,null,null,"6.369e-05",0,0,0,0.0007618,0,"1.761e-05",0,0,1E-3,"EAS","2.027409936999902e-05",0,0,0,0,4.03551006456837E-4,0,0,"1.542830068501644e-05",0,0,4.03551006456837E-4,"eas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GCTTGTATGCA","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4056624;COSM4056625","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF761",388561,"BI","GRCh38","chr19",53454734,53454734,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.227T>A","p.Ile76Lys","p.I76K","ENST00000432094","2024-05-05",113,85,28,168,null,null,"ZNF761,missense_variant,p.I76K,ENST00000432094,NM_001350496.2&NM_001008401.4&NM_001289951.2&NM_001289952.1,c.227T>A,MODERATE,YES,tolerated(0.09),benign(0),1;ZNF761,3_prime_UTR_variant,,ENST00000334095,,c.*97T>A,MODIFIER,,,,1;ZNF761,intron_variant,,ENST00000651864,,c.142+5096T>A,MODIFIER,,,,1;ZNF761,downstream_gene_variant,,ENST00000610928,,,MODIFIER,,,,1;ZNF761,downstream_gene_variant,,ENST00000613950,NM_001289953.1,,MODIFIER,,,,1;AC022137.3,intron_variant,,ENST00000657048,,n.87-18259A>T,MODIFIER,YES,,,-1","A","ENSG00000160336","ENST00000432094","Transcript","missense_variant","missense_variant","534/4061","227/2241","76/746","I/K","aTa/aAa","COSV61888707;COSV61888734",null,1,"ZNF761","HGNC","HGNC:23179","protein_coding","YES",null,"ENSP00000480218","Q86XN6.135",null,"UPI0001825C19",null,"NM_001350496.2;NM_001008401.4;NM_001289951.2;NM_001289952.1",null,"P1",null,"tolerated(0.09)","benign(0)","2024-05-05",null,"PROSITE_profiles:PS50805;PANTHER:PTHR24377;PANTHER:PTHR24377:SF825",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"GCAAATACATG","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM4081040","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DSTN",11034,"BI","GRCh38","chr20",17601034,17601035,"+","Frame_Shift_Ins","INS","-","-","T","rs750962255",null,"TCGA-BR-4361","TCGA-BR-4361-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"f77aa205-e68f-4aaf-9d3c-29c8f821aa26","53c89408-014c-4e0a-b04d-497c1ce75a51","c.308dup","p.Leu103PhefsTer12","p.L103Ffs*12","ENST00000246069","2024-02-04",89,67,22,143,null,null,"DSTN,frameshift_variant,p.L103Ffs*12,ENST00000246069,NM_006870.4,c.308dup,HIGH,YES,,,1;DSTN,frameshift_variant,p.L86Ffs*12,ENST00000474024,NM_001011546.2,c.257dup,HIGH,,,,1;DSTN,frameshift_variant,p.L103Ffs*12,ENST00000449141,,c.308dup,HIGH,,,,1;AL132765.1,upstream_gene_variant,,ENST00000434165,,,MODIFIER,YES,,,-1","T","ENSG00000125868","ENST00000246069","Transcript","frameshift_variant","frameshift_variant","434-435/3405","300-301/498","100-101/165","-/X","-/T","rs750962255",null,1,"DSTN","HGNC","HGNC:15750","protein_coding","YES","CCDS13127.1","ENSP00000246069","P60981.159","V9HWA6.46","UPI00001291DE","P60981-1","NM_006870.4","NM_006870.4","P1",{"$nulls":3},"2024-02-04",null,"Gene3D:3.40.20.10;Pfam:PF00241;Prints:PR00006;PROSITE_profiles:PS51263;PANTHER:PTHR11913;PANTHER:PTHR11913:SF18;SMART:SM00102;Superfamily:SSF55753;CDD:cd11286",{"$nulls":8},"7.194e-05","6.711e-05","7.174e-05",1.172E-4,"6.07e-05","9.619e-05","4.815e-05",0,0.0001614,0.0001614,"gnomAD_SAS","1.3550100447901059e-05",0,0,0,0,0,"9.476880222791806e-05",0,"1.5449699276359752e-05",0,0,{"$nulls":11},"HIGH",1,"insertion",1,8,null,null,"TTGATGTTTTT","3d2b4aea-27e7-4346-a63a-f762221b19b8","dfc741fb-4830-4676-9255-68991ccb18dd","29ed984c-74b5-4016-a649-c32e5d1d9869",null,"COSM1410542","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MGRN1",23295,"BI","GRCh38","chr16",4665141,4665141,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-D7-A6F0","TCGA-D7-A6F0-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"1e7a9a6d-c73c-479e-9952-1b651903c168","c4963ac0-b17d-4017-8a4e-054d20cdbeeb","c.668C>T","p.Ala223Val","p.A223V","ENST00000399577","2024-07-17",56,46,9,58,null,null,"MGRN1,missense_variant,p.A223V,ENST00000399577,NM_001142290.2,c.668C>T,MODERATE,,tolerated(0.51),probably_damaging(0.999),1;MGRN1,missense_variant,p.A223V,ENST00000415496,NM_001142291.2,c.668C>T,MODERATE,,tolerated(0.51),probably_damaging(0.999),1;MGRN1,missense_variant,p.A223V,ENST00000262370,NM_015246.4,c.668C>T,MODERATE,,tolerated(0.52),benign(0.237),1;MGRN1,missense_variant,p.A223V,ENST00000587747,,c.668C>T,MODERATE,YES,tolerated(0.52),probably_damaging(0.976),1;MGRN1,missense_variant,p.A223V,ENST00000586183,,c.668C>T,MODERATE,,tolerated(0.51),probably_damaging(0.999),1;MGRN1,missense_variant,p.A223V,ENST00000588994,NM_001142289.2,c.668C>T,MODERATE,,tolerated(0.46),probably_damaging(0.961),1;MGRN1,missense_variant,p.A188V,ENST00000590790,,c.563C>T,MODERATE,,tolerated(0.58),probably_damaging(0.999),1;MGRN1,intron_variant,,ENST00000593224,,c.387-6264C>T,MODIFIER,,,,1;MGRN1,non_coding_transcript_exon_variant,,ENST00000587145,,n.325C>T,MODIFIER,,,,1;MGRN1,upstream_gene_variant,,ENST00000588015,,,MODIFIER,,,,1;MGRN1,upstream_gene_variant,,ENST00000591673,,,MODIFIER,,,,1;MGRN1,missense_variant,p.A223V,ENST00000536343,,c.668C>T,MODERATE,,tolerated(0.66),possibly_damaging(0.624),1;MGRN1,non_coding_transcript_exon_variant,,ENST00000590457,,n.400C>T,MODIFIER,,,,1","T","ENSG00000102858","ENST00000399577","Transcript","missense_variant","missense_variant","761/6425","668/1659","223/552","A/V","gCc/gTc","COSV99274005",null,1,"MGRN1","HGNC","HGNC:20254","protein_coding",null,"CCDS45402.1","ENSP00000382487","O60291.154",null,"UPI0000409A51","O60291-1","NM_001142290.2",null,"P4",null,"tolerated(0.51)","probably_damaging(0.999)","2024-07-17",null,"PANTHER:PTHR22996;PANTHER:PTHR22996:SF2",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GGCTGCCTTTG","d4bb3fef-974b-4fad-b594-f63432ad148c","2dcde008-881c-4121-86af-98d262e4f088","b1fee7af-8030-4d93-94ac-6294683d4298",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH17",8632,"BI","GRCh38","chr17",78525121,78525121,"+","Missense_Mutation","SNP","G","G","A","rs374735478",null,"TCGA-CD-5799","TCGA-CD-5799-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"eb59b79f-bd36-4bf4-83e3-2af73bd1d30a","14228088-eadd-469e-890d-586176daf99f","c.3752C>T","p.Ala1251Val","p.A1251V","ENST00000389840","25/81",17,6,11,44,null,null,"DNAH17,missense_variant,p.A1251V,ENST00000389840,NM_173628.4,c.3752C>T,MODERATE,YES,tolerated(0.14),benign(0.245),-1;AC016182.1,downstream_gene_variant,,ENST00000587621,,,MODIFIER,YES,,,1","A","ENSG00000187775","ENST00000389840","Transcript","missense_variant","missense_variant","3879/13725","3752/13389","1251/4462","A/V","gCg/gTg","rs374735478",null,-1,"DNAH17","HGNC","HGNC:2946","protein_coding","YES","CCDS11757.2","ENSP00000374490","Q9UFH2.131",null,"UPI0001B25601","Q9UFH2-1","NM_173628.4","NM_173628.4","P1",null,"tolerated(0.14)","benign(0.245)","25/81",null,"PANTHER:PTHR10676;PANTHER:PTHR10676:SF284",0.0002,0,0,0,0,1E-3,0,0.0001201,"6.431e-05",0,0,0,0,0,"1.772e-05",0,0.0004575,1E-3,"SAS","2.0272700567147695e-05",0,0,0,0,0,0,0,"3.086130163865164e-05",0,2.08247001864947E-4,"3.086130163865164e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",5,null,null,1,"ACAGCGCCTCC","740a2cc7-accc-49d7-a74c-9d53f58388ef","867fb890-70ec-41dd-b2cc-dc5a1434b5a7","c991697f-77f9-412a-9bd1-0e47f7387cb2",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SACS",26278,"BI","GRCh38","chr13",23340686,23340686,"+","Missense_Mutation","SNP","G","G","A","rs776315930",null,"TCGA-CG-4469","TCGA-CG-4469-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"11822391-a723-4451-8df4-3cd94460f359","536a7968-51fb-4f27-afc5-5710b7922bea","c.3190C>T","p.Leu1064Phe","p.L1064F","ENST00000382292","2024-10-10",444,194,250,300,null,null,"SACS,missense_variant,p.L1064F,ENST00000382292,NM_014363.6&NM_001278055.2,c.3190C>T,MODERATE,YES,deleterious(0.01),benign(0.045),-1;SACS,missense_variant,p.L314F,ENST00000402364,,c.940C>T,MODERATE,,deleterious(0.01),benign(0.045),-1;SACS,intron_variant,,ENST00000423156,,c.2186-11202C>T,MODIFIER,,,,-1;SACS,intron_variant,,ENST00000455470,,c.2431+759C>T,MODIFIER,,,,-1","A","ENSG00000151835","ENST00000382292","Transcript","missense_variant","missense_variant","3779/15635","3190/13740","1064/4579","L/F","Ctc/Ttc","rs776315930;COSV66537810",null,-1,"SACS","HGNC","HGNC:10519","protein_coding","YES","CCDS9300.2","ENSP00000371729","Q9NZJ4.176",null,"UPI000047039D","Q9NZJ4-1","NM_014363.6;NM_001278055.2","NM_014363.6","P2",null,"deleterious(0.01)","benign(0.045)","2024-10-10",null,"PANTHER:PTHR15600;PANTHER:PTHR15600:SF37",{"$nulls":8},"1.311e-05",0,0,0,0,0,"2.807e-05",0,0,"2.807e-05","gnomAD_NFE","6.760320047760615e-06",0,0,0,0,0,0,0,"1.5430699932039715e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"AAAGAGATCCT","308325a2-bb59-4e03-a172-0ee5c66a90c9","b841f570-99c9-49fe-8956-defcd196fddc","2ac986f6-cd6f-4ca5-90cc-7a105cfe85ea",null,"COSM4046572;COSM4046573","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SELL",6402,"BI","GRCh38","chr1",169707434,169707434,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-4256","TCGA-BR-4256-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"314e2003-3112-476a-b7c9-ecee8014938a","3537ea7a-6b33-4bdc-9e90-bfd976cdd753","c.527G>A","p.Trp176Ter","p.W176*","ENST00000650983","2024-04-09",68,59,9,45,null,null,"SELL,stop_gained,p.W176*,ENST00000650983,,c.527G>A,HIGH,YES,,,-1;SELL,stop_gained,p.W163*,ENST00000236147,NM_000655.5,c.488G>A,HIGH,,,,-1;SELL,upstream_gene_variant,,ENST00000497295,,,MODIFIER,,,,-1;SELL,non_coding_transcript_exon_variant,,ENST00000479657,,n.240G>A,MODIFIER,,,,-1;C1orf112,intron_variant,,ENST00000498289,,n.851+23502C>T,MODIFIER,,,,1;SELL,upstream_gene_variant,,ENST00000460650,,,MODIFIER,,,,-1;SELL,non_coding_transcript_exon_variant,,ENST00000463108,,n.688G>A,MODIFIER,,,,-1;SELL,non_coding_transcript_exon_variant,,ENST00000466340,,n.500G>A,MODIFIER,,,,-1","T","ENSG00000188404","ENST00000650983","Transcript","stop_gained","stop_gained","692/2442","527/1158","176/385","W/*","tGg/tAg","COSV52553875",null,-1,"SELL","HGNC","HGNC:10720","protein_coding","YES","CCDS53427.1","ENSP00000498227","P14151.220",null,"UPI000007083D","P14151-2",{"$nulls":6},"2024-04-09",null,"Gene3D:2.10.25.10;PIRSF:PIRSF002421;PROSITE_profiles:PS50026;PANTHER:PTHR19325;PANTHER:PTHR19325:SF496;SMART:SM00181;Superfamily:SSF57196",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",null,null,1,null,"ATGACCAGGGC","72c7ce0c-08b5-4854-9241-b65c9a87a587","0bb6e371-6384-4c7d-b7f2-e4dfe4bcba97","7b0d69ca-13a6-46e0-839c-e433bbede3ad",null,"COSM4024969;COSM4024970","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RUNX2",860,"BI","GRCh38","chr6",45437973,45437973,"+","Missense_Mutation","SNP","G","G","A","rs147009083",null,"TCGA-BR-4256","TCGA-BR-4256-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"314e2003-3112-476a-b7c9-ecee8014938a","3537ea7a-6b33-4bdc-9e90-bfd976cdd753","c.607G>A","p.Val203Ile","p.V203I","ENST00000371438","2024-04-08",297,267,30,240,null,null,"RUNX2,missense_variant,p.V203I,ENST00000371438,,c.607G>A,MODERATE,,tolerated(0.05),probably_damaging(0.919),1;RUNX2,missense_variant,p.V203I,ENST00000647337,NM_001024630.4,c.607G>A,MODERATE,,tolerated(0.05),probably_damaging(0.919),1;RUNX2,missense_variant,p.V203I,ENST00000371432,NM_001015051.3,c.607G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.604),1;RUNX2,missense_variant,p.V189I,ENST00000359524,NM_001369405.1,c.565G>A,MODERATE,,tolerated(0.06),benign(0.41),1;RUNX2,missense_variant,p.V203I,ENST00000576263,,c.607G>A,MODERATE,YES,tolerated(0.06),probably_damaging(0.992),1;RUNX2,missense_variant,p.V203I,ENST00000371436,,c.607G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.604),1;RUNX2,missense_variant,p.V189I,ENST00000625924,NM_001278478.2,c.565G>A,MODERATE,,tolerated(0.07),probably_damaging(0.989),1;RUNX2,missense_variant,p.V189I,ENST00000646519,,c.565G>A,MODERATE,,tolerated(0.1),probably_damaging(0.994),1;RUNX2,missense_variant,p.V189I,ENST00000478660,,c.565G>A,MODERATE,,tolerated(0.15),probably_damaging(0.989),1;RUNX2,3_prime_UTR_variant,,ENST00000483377,,c.*128G>A,MODIFIER,,,,1","A","ENSG00000124813","ENST00000371438","Transcript","missense_variant","missense_variant","965/5698","607/1566","203/521","V/I","Gtc/Atc","rs147009083;COSV61844130",null,1,"RUNX2","HGNC","HGNC:10472","protein_coding",null,"CCDS43467.2","ENSP00000360493","Q13950.198",null,"UPI000013532F","Q13950-1",null,null,"A2",null,"tolerated(0.05)","probably_damaging(0.919)","2024-04-08",null,"Gene3D:2.60.40.720;Pfam:PF00853;PIRSF:PIRSF009374;Prints:PR00967;PROSITE_profiles:PS51062;PANTHER:PTHR11950;PANTHER:PTHR11950:SF7;Superfamily:SSF49417",{"$nulls":6},0.0006809,0,0.0001949,0.0003691,0.0001735,0,0,0,0.0002023,1.63E-4,0.0004246,0.0006809,"AA",0.000169117993209511,0.000438276008935645,0,1.99018002604134E-4,0,2.01856993953697E-4,0,0,"3.086039941990748e-05",0,0.000208507000934332,0.000438276008935645,"afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"TAACCGTCTTC","72c7ce0c-08b5-4854-9241-b65c9a87a587","0bb6e371-6384-4c7d-b7f2-e4dfe4bcba97","7b0d69ca-13a6-46e0-839c-e433bbede3ad",null,"COSM1444869;COSM1444870","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR1Q1",158131,"BI","GRCh38","chr9",122615321,122615321,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-4256","TCGA-BR-4256-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"314e2003-3112-476a-b7c9-ecee8014938a","3537ea7a-6b33-4bdc-9e90-bfd976cdd753","c.584A>G","p.Asn195Ser","p.N195S","ENST00000297913","2024-01-01",120,104,16,114,null,null,"OR1Q1,missense_variant,p.N195S,ENST00000297913,NM_012364.1,c.584A>G,MODERATE,YES,tolerated(0.07),possibly_damaging(0.745),1;AL359636.2,intron_variant,,ENST00000431442,,n.4767+5271A>G,MODIFIER,YES,,,1;AL359636.2,upstream_gene_variant,,ENST00000419604,,,MODIFIER,,,,1","G","ENSG00000165202","ENST00000297913","Transcript","missense_variant","missense_variant","584/945","584/945","195/314","N/S","aAc/aGc","COSV52918717",null,1,"OR1Q1","HGNC","HGNC:8223","protein_coding","YES","CCDS35125.1","ENSP00000297913","Q15612.159",null,"UPI000003CACD",null,"NM_012364.1","NM_012364.1","P1",null,"tolerated(0.07)","possibly_damaging(0.745)","2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26451;PANTHER:PTHR26451:SF92;Superfamily:SSF81321;CDD:cd15235",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"CCTCAACACCC","72c7ce0c-08b5-4854-9241-b65c9a87a587","0bb6e371-6384-4c7d-b7f2-e4dfe4bcba97","7b0d69ca-13a6-46e0-839c-e433bbede3ad",null,"COSM3903819","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARHGAP5",394,"BI","GRCh38","chr14",32092009,32092009,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-4256","TCGA-BR-4256-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"314e2003-3112-476a-b7c9-ecee8014938a","3537ea7a-6b33-4bdc-9e90-bfd976cdd753","c.1340G>A","p.Gly447Glu","p.G447E","ENST00000345122","2024-02-07",144,130,14,114,null,null,"ARHGAP5,missense_variant,p.G447E,ENST00000345122,NM_001030055.2,c.1340G>A,MODERATE,YES,deleterious(0),probably_damaging(0.922),1;ARHGAP5,missense_variant,p.G447E,ENST00000432921,,c.1340G>A,MODERATE,,deleterious(0),probably_damaging(1),1;ARHGAP5,missense_variant,p.G447E,ENST00000539826,,c.1340G>A,MODERATE,,deleterious(0),probably_damaging(0.922),1;ARHGAP5,missense_variant,p.G447E,ENST00000556611,NM_001173.3,c.1340G>A,MODERATE,,deleterious(0),probably_damaging(0.965),1;ARHGAP5,intron_variant,,ENST00000396582,,c.70+14574G>A,MODIFIER,,,,1;ARHGAP5,intron_variant,,ENST00000433497,,c.-64+14574G>A,MODIFIER,,,,1;ARHGAP5,intron_variant,,ENST00000554090,,c.-67+13713G>A,MODIFIER,,,,1;ARHGAP5,downstream_gene_variant,,ENST00000555814,,,MODIFIER,,,,1;ARHGAP5,downstream_gene_variant,,ENST00000556191,,,MODIFIER,,,,1;ARHGAP5,upstream_gene_variant,,ENST00000557643,,,MODIFIER,,,,1","A","ENSG00000100852","ENST00000345122","Transcript","missense_variant","missense_variant","1640/9589","1340/4509","447/1502","G/E","gGg/gAg","COSV100565599",null,1,"ARHGAP5","HGNC","HGNC:675","protein_coding","YES","CCDS32062.1","ENSP00000371897","Q13017.178",null,"UPI000057B85C","Q13017-1","NM_001030055.2","NM_001030055.2","P4",null,"deleterious(0)","probably_damaging(0.922)","2024-02-07",null,"Gene3D:1.10.10.440;PROSITE_profiles:PS51676;PANTHER:PTHR46005;PANTHER:PTHR46005:SF2;SMART:SM00441;Superfamily:SSF81698",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"ACCAGGGCAGC","72c7ce0c-08b5-4854-9241-b65c9a87a587","0bb6e371-6384-4c7d-b7f2-e4dfe4bcba97","7b0d69ca-13a6-46e0-839c-e433bbede3ad",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["USP9X",8239,"BI","GRCh38","chrX",41170006,41170006,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-4256","TCGA-BR-4256-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"314e2003-3112-476a-b7c9-ecee8014938a","3537ea7a-6b33-4bdc-9e90-bfd976cdd753","c.2648G>C","p.Gly883Ala","p.G883A","ENST00000324545","19/45",119,87,32,76,null,null,"USP9X,missense_variant,p.G883A,ENST00000378308,NM_001039591.3,c.2648G>C,MODERATE,,deleterious(0),probably_damaging(1),1;USP9X,missense_variant,p.G883A,ENST00000324545,NM_001039590.3,c.2648G>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;USP9X,downstream_gene_variant,,ENST00000467173,,,MODIFIER,,,,1","C","ENSG00000124486","ENST00000324545","Transcript","missense_variant","missense_variant","3281/12401","2648/7713","883/2570","G/A","gGt/gCt","COSV61073200",null,1,"USP9X","HGNC","HGNC:12632","protein_coding","YES","CCDS43930.1","ENSP00000316357","Q93008.204",null,"UPI00001AF419","Q93008-3","NM_001039590.3",null,"A1",null,"deleterious(0)","probably_damaging(0.999)","19/45",null,"PDB-ENSP_mappings:5vbd.A;Superfamily:SSF48371",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CCGCGGTAAAC","72c7ce0c-08b5-4854-9241-b65c9a87a587","0bb6e371-6384-4c7d-b7f2-e4dfe4bcba97","7b0d69ca-13a6-46e0-839c-e433bbede3ad",null,"COSM4109476;COSM4109477","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RETREG3",162427,"BI","GRCh38","chr17",42586074,42586089,"+","Frame_Shift_Del","DEL","GCCCAGGGACGTAGCG","GCCCAGGGACGTAGCG","-","novel",null,"TCGA-3M-AB46","TCGA-3M-AB46-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"0bca929f-7da1-4bfb-bc2c-3bfd9646dbc5","70c20c6e-5c58-4bef-a336-37181488eda8","c.553_568del","p.Arg185PhefsTer6","p.R185Ffs*6","ENST00000309428","2024-05-09",150,132,18,74,null,null,"RETREG3,frameshift_variant,p.R185Ffs*6,ENST00000309428,NM_178126.4,c.553_568del,HIGH,YES,,,-1;RETREG3,frameshift_variant,p.R88Ffs*6,ENST00000585894,,c.262_277del,HIGH,,,,-1;RETREG3,frameshift_variant,p.R88Ffs*6,ENST00000591547,,c.262_277del,HIGH,,,,-1;RETREG3,downstream_gene_variant,,ENST00000588423,,,MODIFIER,,,,-1;RETREG3,3_prime_UTR_variant,,ENST00000589797,,c.*705_*720del,MODIFIER,,,,-1;RETREG3,3_prime_UTR_variant,,ENST00000586870,,c.*120_*135del,MODIFIER,,,,-1;RETREG3,3_prime_UTR_variant,,ENST00000593251,,c.*36_*51del,MODIFIER,,,,-1;RETREG3,3_prime_UTR_variant,,ENST00000585726,,c.*36_*51del,MODIFIER,,,,-1;RETREG3,non_coding_transcript_exon_variant,,ENST00000589007,,n.242_257del,MODIFIER,,,,-1;RETREG3,non_coding_transcript_exon_variant,,ENST00000590035,,n.344_359del,MODIFIER,,,,-1;RETREG3,downstream_gene_variant,,ENST00000586796,,,MODIFIER,,,,-1","-","ENSG00000141699","ENST00000309428","Transcript","frameshift_variant","frameshift_variant","603-618/3749","553-568/1401","185-190/466","RYVPGL/X","CGCTACGTCCCTGGGCtt/tt",null,null,-1,"RETREG3","HGNC","HGNC:27258","protein_coding","YES","CCDS11432.1","ENSP00000309432","Q86VR2.116",null,"UPI0000171C73","Q86VR2-1","NM_178126.4","NM_178126.4","P1",{"$nulls":3},"2024-05-09",null,"PANTHER:PTHR28659;PANTHER:PTHR28659:SF1;Transmembrane_helices:TMhelix;Transmembrane_helices:TMhelix",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"GCAGAAGCCCAGGGACGTAGCGGCCCA","58afa588-baac-442b-9418-c79a18127aee","fde998f2-cef0-469c-8632-14df99485af0","be6531b2-d1f3-44ab-9c02-1ceae51ef2bb",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TCN1",6947,"BI","GRCh38","chr11",59862715,59862715,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-VQ-A8PH","TCGA-VQ-A8PH-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"befa365b-7ccc-4bfd-b751-17bf10255eee","a8a33b25-3c9a-4da0-a425-f07c88173681","c.267T>A","p.Asp89Glu","p.D89E","ENST00000257264","2024-03-09",89,71,17,77,null,null,"TCN1,missense_variant,p.D89E,ENST00000257264,NM_001062.4,c.267T>A,MODERATE,YES,tolerated(0.89),benign(0.003),-1;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,,n.286T>A,MODIFIER,,,,-1;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,,n.88T>A,MODIFIER,,,,-1;TCN1,upstream_gene_variant,,ENST00000533734,,,MODIFIER,,,,-1","T","ENSG00000134827","ENST00000257264","Transcript","missense_variant","missense_variant","284/1486","267/1302","89/433","D/E","gaT/gaA","COSV99953084",null,-1,"TCN1","HGNC","HGNC:11652","protein_coding","YES","CCDS7978.1","ENSP00000257264","P20061.176",null,"UPI000013CF55",null,"NM_001062.4","NM_001062.4","P1",null,"tolerated(0.89)","benign(0.003)","2024-03-09",null,"PDB-ENSP_mappings:4kki.A;PDB-ENSP_mappings:4kkj.A;PANTHER:PTHR10559;PANTHER:PTHR10559:SF13;Gene3D:1.50.10.20;Pfam:PF01122",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CTTACATCTGA","442cb345-d5c2-4f28-b859-f6a0640805bb","7eed2eb2-d9fc-43fe-b92e-b42161d44263","52849c60-7e30-4ba4-9dae-be4adf031120",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYT1L",23040,"BI","GRCh38","chr2",1922570,1922570,"+","Missense_Mutation","SNP","G","G","A","rs781013816",null,"TCGA-VQ-A8DZ","TCGA-VQ-A8DZ-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"1352bf5b-8549-4e3a-8e55-12b1e662eb63","261a75ac-4d5d-4ad4-87ff-d8454b20b633","c.1199C>T","p.Ala400Val","p.A400V","ENST00000399161","2024-10-25",32,24,8,58,null,null,"MYT1L,missense_variant,p.A400V,ENST00000648928,NM_001329847.2,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.012),-1;MYT1L,missense_variant,p.A400V,ENST00000648339,,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.049),-1;MYT1L,missense_variant,p.A400V,ENST00000648318,NM_001329852.2,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.069),-1;MYT1L,missense_variant,p.A400V,ENST00000644820,,c.1199C>T,MODERATE,YES,tolerated(0.27),benign(0.107),-1;MYT1L,missense_variant,p.A400V,ENST00000649663,NM_001329851.2,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.049),-1;MYT1L,missense_variant,p.A400V,ENST00000647738,NM_001303052.2,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.005),-1;MYT1L,missense_variant,p.A400V,ENST00000650485,,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.012),-1;MYT1L,missense_variant,p.A400V,ENST00000399161,NM_015025.4,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.012),-1;MYT1L,missense_variant,p.A399V,ENST00000650560,,c.1196C>T,MODERATE,,tolerated(0.21),benign(0.089),-1;MYT1L,missense_variant,p.A400V,ENST00000649207,NM_001329848.1,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.012),-1;MYT1L,missense_variant,p.A400V,ENST00000428368,NM_001329844.2,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.005),-1;MYT1L,missense_variant,p.A400V,ENST00000648316,,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.012),-1;MYT1L,missense_variant,p.A400V,ENST00000647694,NM_001329845.1,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.005),-1;MYT1L,missense_variant,p.A379V,ENST00000647618,,c.1136C>T,MODERATE,,tolerated(0.24),benign(0.078),-1;MYT1L,missense_variant,p.A400V,ENST00000647755,NM_001329846.2,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.012),-1;MYT1L,missense_variant,p.A400V,ENST00000648665,NM_001329849.2,c.1199C>T,MODERATE,,tolerated(0.25),benign(0.069),-1;MYT1L,missense_variant,p.A139V,ENST00000648753,,c.416C>T,MODERATE,,tolerated(0.16),benign(0.047),-1;MYT1L,missense_variant,p.A400V,ENST00000649810,,c.1199C>T,MODERATE,,tolerated(0.27),possibly_damaging(0.804),-1;MYT1L,missense_variant,p.A232V,ENST00000648430,,c.695C>T,MODERATE,,tolerated(0.2),benign(0.076),-1;MYT1L,missense_variant,p.A400V,ENST00000649641,,c.1199C>T,MODERATE,,tolerated(0.24),benign(0.005),-1;MYT1L,missense_variant,p.A134V,ENST00000648943,,c.401C>T,MODERATE,,tolerated(0.16),benign(0.03),-1;MYT1L,missense_variant,p.A400V,ENST00000649313,,c.1199C>T,MODERATE,,tolerated(0.13),benign(0.005),-1;MYT1L,intron_variant,,ENST00000648627,,c.506-5231C>T,MODIFIER,,,,-1;MYT1L,intron_variant,,ENST00000648933,,c.506-5231C>T,MODIFIER,,,,-1;MYT1L,intron_variant,,ENST00000649709,,c.506-5231C>T,MODIFIER,,,,-1;MYT1L,intron_variant,,ENST00000650399,,c.409+20412C>T,MODIFIER,,,,-1;MYT1L,upstream_gene_variant,,ENST00000470954,,,MODIFIER,,,,-1;MYT1L,upstream_gene_variant,,ENST00000648931,,,MODIFIER,,,,-1;MYT1L,missense_variant,p.A54V,ENST00000602387,,c.161C>T,MODERATE,,tolerated(0.15),benign(0.025),-1;MYT1L,3_prime_UTR_variant,,ENST00000650081,,c.*636C>T,MODIFIER,,,,-1;MYT1L,upstream_gene_variant,,ENST00000647687,,,MODIFIER,,,,-1","A","ENSG00000186487","ENST00000399161","Transcript","missense_variant","missense_variant","2016/7103","1199/3555","400/1184","A/V","gCg/gTg","rs781013816;COSV67723791",null,-1,"MYT1L","HGNC","HGNC:7623","protein_coding",null,"CCDS46222.1","ENSP00000382114","Q9UL68.144",null,"UPI00004E55EA","Q9UL68-4","NM_015025.4",{"$nulls":3},"tolerated(0.24)","benign(0.012)","2024-10-25",null,"PANTHER:PTHR10816;PANTHER:PTHR10816:SF11",{"$nulls":8},"4.012e-06",0,0,0,0,0,"8.849e-06",0,0,"8.849e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CCTTCGCACAG","043e37dd-068b-41ef-a856-ac5818acf842","c5ca018b-166c-4cd5-b4e6-a67c31846ae8","a8a9b061-b33c-4c69-bd4c-7f430474cdfd",null,"COSM3357532;COSM3357533","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ENPP3",5169,"BI","GRCh38","chr6",131693520,131693520,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-BR-8677","TCGA-BR-8677-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"df4fb014-ac78-45f4-bf7d-6d3fb15af874","193fa960-f89a-404d-b0f4-a6c5743aed4c","c.1308C>G","p.Phe436Leu","p.F436L","ENST00000357639","15/25",78,72,5,168,null,null,"ENPP3,missense_variant,p.F436L,ENST00000414305,,c.1308C>G,MODERATE,YES,deleterious(0.05),probably_damaging(0.927),1;ENPP3,missense_variant,p.F436L,ENST00000357639,NM_005021.5,c.1308C>G,MODERATE,,deleterious(0.05),probably_damaging(0.927),1;ENPP3,missense_variant,p.F436L,ENST00000358229,,c.1308C>G,MODERATE,,deleterious(0.05),benign(0.444),1","G","ENSG00000154269","ENST00000357639","Transcript","missense_variant","missense_variant","1391/3165","1308/2628","436/875","F/L","ttC/ttG","COSV62956018",null,1,"ENPP3","HGNC","HGNC:3358","protein_coding",null,"CCDS5148.1","ENSP00000350265","O14638.173",null,"UPI000013DD9F",null,"NM_005021.5","NM_005021.5","P1",null,"deleterious(0.05)","probably_damaging(0.927)","15/25",null,"PDB-ENSP_mappings:6c01.A;PDB-ENSP_mappings:6c01.B;PDB-ENSP_mappings:6c02.A;PDB-ENSP_mappings:6c02.B;CDD:cd16018;PANTHER:PTHR10151:SF107;PANTHER:PTHR10151;Pfam:PF01663;Gene3D:3.30.1360.180;Gene3D:3.40.720.10;Superfamily:SSF53649",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CATTTCAAGCC","686b8b84-c652-4e97-8d13-6e6049c327ec","e28de4e0-2739-4840-8560-6791f54baec8","e7a3574b-1fcf-4366-adf8-f4330d9be6f8",null,"COSM3620671","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TTN",7273,"BI","GRCh38","chr2",178715613,178715613,"+","Missense_Mutation","SNP","C","C","T","rs184812963",null,"TCGA-CG-4306","TCGA-CG-4306-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"87515ac6-17e2-43ac-a6ed-af54e8fa3e8f","c6b012b4-95e2-4c81-a11d-931c8a2ba665","c.24850G>A","p.Val8284Ile","p.V8284I","ENST00000591111","87/313",62,35,27,20,null,null,"TTN,missense_variant,p.V8601I,ENST00000589042,NM_001267550.2,c.25801G>A,MODERATE,YES,,benign(0),-1;TTN,missense_variant,p.V8284I,ENST00000591111,,c.24850G>A,MODERATE,,,benign(0),-1;TTN,missense_variant,p.V7357I,ENST00000342992,NM_133378.4&NM_001256850.1,c.22069G>A,MODERATE,,,benign(0),-1;TTN,intron_variant,,ENST00000342175,NM_133437.4,c.13858+22469G>A,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000359218,NM_133432.3,c.13657+22469G>A,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000460472,NM_003319.4,c.13282+22469G>A,MODIFIER,,,,-1;TTN-AS1,intron_variant,,ENST00000585451,,n.199-45327C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.684-18891C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.136-18891C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.416-18891C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.315-22321C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.503-18891C>T,MODIFIER,YES,,,1;TTN-AS1,downstream_gene_variant,,ENST00000431752,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589830,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592600,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592630,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000625536,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000626117,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000671355,,,MODIFIER,,,,1","T","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","25075/104301","24850/103053","8284/34350","V/I","Gtt/Att","rs184812963;COSV59978149",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0)","87/313",null,"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00406;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096",{"$nulls":8},"4.021e-06",0,0,0,0,0,0,0,"3.269e-05","3.269e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"0;1",1,"GTCAACGAATG","b54a26d4-8f54-4057-9227-57f5c1e024ab","1f1b7240-9b82-435d-b6b6-7b5826d95fec","73d177f7-8c0a-42f6-a73d-8073c0e6142b",null,"COSM3391272;COSM3391273","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MMS22L",253714,"BI","GRCh38","chr6",97173103,97173103,"+","Frame_Shift_Del","DEL","T","T","-","rs1562416103",null,"TCGA-CG-4306","TCGA-CG-4306-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"87515ac6-17e2-43ac-a6ed-af54e8fa3e8f","c6b012b4-95e2-4c81-a11d-931c8a2ba665","c.2799del","p.Val934PhefsTer8","p.V934Ffs*8","ENST00000275053","19/25",149,109,39,52,null,null,"MMS22L,frameshift_variant,p.V934Ffs*8,ENST00000275053,NM_001350600.2&NM_001350599.2&NM_198468.4,c.2799del,HIGH,YES,,,-1;MMS22L,frameshift_variant,p.V894Ffs*8,ENST00000369251,,c.2679del,HIGH,,,,-1","-","ENSG00000146263","ENST00000275053","Transcript","frameshift_variant","frameshift_variant","3065/8643","2799/3732","933/1243","K/X","aaA/aa","rs1562416103",null,-1,"MMS22L","HGNC","HGNC:21475","protein_coding","YES","CCDS5039.1","ENSP00000275053","Q6ZRQ5.123",null,"UPI00003673C9",null,"NM_001350600.2;NM_001350599.2;NM_198468.4",null,"P1",{"$nulls":3},"19/25",null,"PANTHER:PTHR28547;Pfam:PF14911",{"$nulls":41},"HIGH",1,"deletion",2,{"$nulls":3},"GAAAACTTTTTT","b54a26d4-8f54-4057-9227-57f5c1e024ab","1f1b7240-9b82-435d-b6b6-7b5826d95fec","73d177f7-8c0a-42f6-a73d-8073c0e6142b",null,"COSM1446553","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CUBN",8029,"BI","GRCh38","chr10",16948510,16948510,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CG-4306","TCGA-CG-4306-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"87515ac6-17e2-43ac-a6ed-af54e8fa3e8f","c6b012b4-95e2-4c81-a11d-931c8a2ba665","c.5177G>A","p.Gly1726Asp","p.G1726D","ENST00000377833","35/67",60,48,11,40,null,null,"CUBN,missense_variant,p.G1726D,ENST00000377833,NM_001081.4,c.5177G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1","T","ENSG00000107611","ENST00000377833","Transcript","missense_variant","missense_variant","5223/11927","5177/10872","1726/3623","G/D","gGt/gAt","COSV64714062",null,-1,"CUBN","HGNC","HGNC:2548","protein_coding","YES","CCDS7113.1","ENSP00000367064","O60494.184",null,"UPI00001AE8F4",null,"NM_001081.4","NM_001081.4","P1",null,"deleterious(0)","probably_damaging(0.999)","35/67",null,"Gene3D:2.60.120.290;Pfam:PF00431;PROSITE_profiles:PS01180;PANTHER:PTHR45645;PANTHER:PTHR45645:SF31;SMART:SM00042;Superfamily:SSF49854;CDD:cd00041",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGAAACCCCCA","b54a26d4-8f54-4057-9227-57f5c1e024ab","1f1b7240-9b82-435d-b6b6-7b5826d95fec","73d177f7-8c0a-42f6-a73d-8073c0e6142b",null,"COSM4013087","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMG1",23049,"BI","GRCh38","chr16",18833148,18833148,"+","Missense_Mutation","SNP","G","G","A","rs540679816",null,"TCGA-CG-4306","TCGA-CG-4306-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"87515ac6-17e2-43ac-a6ed-af54e8fa3e8f","c6b012b4-95e2-4c81-a11d-931c8a2ba665","c.8584C>T","p.Arg2862Trp","p.R2862W","ENST00000446231","51/63",92,75,17,56,null,null,"SMG1,missense_variant,p.R2862W,ENST00000446231,NM_015092.5,c.8584C>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1;SMG1,missense_variant,p.R2752W,ENST00000565324,,c.8254C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1","A","ENSG00000157106","ENST00000446231","Transcript","missense_variant","missense_variant","8951/16062","8584/10986","2862/3661","R/W","Cgg/Tgg","rs540679816;COSV67170815",null,-1,"SMG1","HGNC","HGNC:30045","protein_coding","YES","CCDS45430.1","ENSP00000402515","Q96Q15.169",null,"UPI00004F8E22","Q96Q15-1","NM_015092.5","NM_015092.5","P1",null,"deleterious(0)","probably_damaging(0.99)","51/63",null,"PDB-ENSP_mappings:6l53.A;PDB-ENSP_mappings:6l54.A;PDB-ENSP_mappings:6syt.A;PANTHER:PTHR11139;PANTHER:PTHR11139:SF71",0.0002,0.0008,0,0,0,0,null,null,"2.815e-05","6.462e-05","5.809e-05",0,0,"4.643e-05","1.774e-05",0,"3.282e-05",0.0008,"AFR","2.0306799342506565e-05","4.872110002906993e-05",0,0,0,2.01856993953697E-4,0,0,0,0,0,"4.872110002906993e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TTGCCGGAAAT","b54a26d4-8f54-4057-9227-57f5c1e024ab","1f1b7240-9b82-435d-b6b6-7b5826d95fec","73d177f7-8c0a-42f6-a73d-8073c0e6142b",null,"COSM4058788;COSM4058789","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HIPK4",147746,"BI","GRCh38","chr19",40381125,40381125,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CG-4306","TCGA-CG-4306-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"87515ac6-17e2-43ac-a6ed-af54e8fa3e8f","c6b012b4-95e2-4c81-a11d-931c8a2ba665","c.866A>G","p.Asp289Gly","p.D289G","ENST00000291823","2024-03-04",102,96,6,76,null,null,"HIPK4,missense_variant,p.D289G,ENST00000291823,NM_144685.5,c.866A>G,MODERATE,YES,deleterious(0),benign(0.307),-1;PLD3,downstream_gene_variant,,ENST00000356508,NM_001031696.3,,MODIFIER,,,,1;PLD3,downstream_gene_variant,,ENST00000409281,NM_001291311.1,,MODIFIER,,,,1;PLD3,downstream_gene_variant,,ENST00000409419,,,MODIFIER,,,,1;PLD3,downstream_gene_variant,,ENST00000409587,,,MODIFIER,YES,,,1;PLD3,downstream_gene_variant,,ENST00000409735,NM_012268.4,,MODIFIER,,,,1;PLD3,downstream_gene_variant,,ENST00000486134,,,MODIFIER,,,,1;PLD3,downstream_gene_variant,,ENST00000488311,,,MODIFIER,,,,1","C","ENSG00000160396","ENST00000291823","Transcript","missense_variant","missense_variant","1145/2446","866/1851","289/616","D/G","gAc/gGc","COSV52520597",null,-1,"HIPK4","HGNC","HGNC:19007","protein_coding","YES","CCDS12555.1","ENSP00000291823","Q8NE63.142","A0A140VJL1.27","UPI000006DCD3",null,"NM_144685.5","NM_144685.5","P1",null,"deleterious(0)","benign(0.307)","2024-03-04",null,"PROSITE_profiles:PS50011;PANTHER:PTHR24058;PANTHER:PTHR24058:SF46;Pfam:PF00069;Gene3D:1.10.510.10;SMART:SM00220;Superfamily:SSF56112",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTGGTCCAAC","b54a26d4-8f54-4057-9227-57f5c1e024ab","1f1b7240-9b82-435d-b6b6-7b5826d95fec","73d177f7-8c0a-42f6-a73d-8073c0e6142b",null,"COSM4078194","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ATM",472,"BI","GRCh38","chr11",108301698,108301699,"+","Frame_Shift_Ins","INS","-","-","A","novel",null,"TCGA-D7-8575","TCGA-D7-8575-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"b0129d2a-9f88-4283-9939-d21510769627","121d09e2-8ac7-45cd-9e5e-d9261a7b50ec","c.5231dup","p.Thr1745AspfsTer4","p.T1745Dfs*4","ENST00000278616","35/63",26,17,8,161,null,null,"ATM,frameshift_variant,p.T1745Dfs*4,ENST00000278616,,c.5231dup,HIGH,YES,,,1;ATM,frameshift_variant,p.T1745Dfs*4,ENST00000452508,NM_001351834.2,c.5231dup,HIGH,,,,1;ATM,frameshift_variant,p.T1745Dfs*4,ENST00000675843,NM_000051.4,c.5231dup,HIGH,,,,1;ATM,3_prime_UTR_variant,,ENST00000675595,,c.*295dup,MODIFIER,,,,1;ATM,3_prime_UTR_variant,,ENST00000527805,,c.*295dup,MODIFIER,,,,1;ATM,non_coding_transcript_exon_variant,,ENST00000524792,,n.1446dup,MODIFIER,,,,1;ATM,non_coding_transcript_exon_variant,,ENST00000533690,,n.635dup,MODIFIER,,,,1;ATM,non_coding_transcript_exon_variant,,ENST00000534625,,n.460dup,MODIFIER,,,,1;ATM,upstream_gene_variant,,ENST00000529588,,,MODIFIER,,,,1","A","ENSG00000149311","ENST00000278616","Transcript","frameshift_variant","frameshift_variant","5613-5614/13147","5228-5229/9171","1743/3056","T/TX","aca/acAa",null,null,1,"ATM","HGNC","HGNC:795","protein_coding","YES","CCDS31669.1","ENSP00000278616","Q13315.241","A0A024R3C7.58","UPI000016B511",{"$nulls":3},"P1",{"$nulls":3},"35/63",null,"PDB-ENSP_mappings:5np0.A;PDB-ENSP_mappings:5np0.B;PDB-ENSP_mappings:5np1.A;PDB-ENSP_mappings:6k9k.A;PDB-ENSP_mappings:6k9l.A;PDB-ENSP_mappings:6k9l.B;PANTHER:PTHR11139;PANTHER:PTHR11139:SF72;Superfamily:SSF48371",{"$nulls":41},"HIGH",1,"insertion",5,3,null,1,"AGCCACAAAGA","92c17404-0c02-4cf5-a94d-e723ff32746c","85323600-afb0-4c8e-856f-a1dcbf7cef1d","00ee3098-1b32-4e7a-81ea-993773587c41",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["LDHB",3945,"BI","GRCh38","chr12",21654593,21654593,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8366","TCGA-BR-8366-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1abcee1-9890-44fc-b2b3-e506b7a7328b","5f6c1c99-0981-4fbf-93b5-8ad581ab25b6","c.79G>A","p.Val27Met","p.V27M","ENST00000350669","2024-02-08",112,99,12,212,null,null,"LDHB,missense_variant,p.V27M,ENST00000396076,NM_001174097.2,c.79G>A,MODERATE,,deleterious(0),possibly_damaging(0.503),-1;LDHB,missense_variant,p.V27M,ENST00000350669,NM_001315537.1&NM_002300.8,c.79G>A,MODERATE,,deleterious(0),possibly_damaging(0.503),-1;LDHB,missense_variant,p.V27M,ENST00000673047,,c.79G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.901),-1;LDHB,missense_variant,p.V27M,ENST00000396075,,c.79G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.503),-1;LDHB,missense_variant,p.V27M,ENST00000450584,,c.79G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.503),-1;LDHB,missense_variant,p.V27M,ENST00000539782,,c.79G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.503),-1;LDHB,downstream_gene_variant,,ENST00000535112,,,MODIFIER,,,,-1;AC010197.2,missense_variant,p.V27M,ENST00000647960,,c.79G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.455),-1;LDHB,non_coding_transcript_exon_variant,,ENST00000544151,,n.306G>A,MODIFIER,,,,-1;LDHB,upstream_gene_variant,,ENST00000470280,,,MODIFIER,,,,-1","T","ENSG00000111716","ENST00000350669","Transcript","missense_variant","missense_variant","177/1303","79/1005","27/334","V/M","Gtg/Atg","COSV63364565",null,-1,"LDHB","HGNC","HGNC:6541","protein_coding",null,"CCDS8691.1","ENSP00000229319","P07195.234","Q5U077.157","UPI000013C8F6",null,"NM_001315537.1;NM_002300.8","NM_002300.8","P1",null,"deleterious(0)","possibly_damaging(0.503)","2024-02-08",null,"PDB-ENSP_mappings:1i0z.A;PDB-ENSP_mappings:1i0z.B;PDB-ENSP_mappings:1t2f.A;PDB-ENSP_mappings:1t2f.B;PDB-ENSP_mappings:1t2f.C;PDB-ENSP_mappings:1t2f.D;HAMAP:MF_00488;CDD:cd05293;PANTHER:PTHR43128:SF2;PANTHER:PTHR43128;Pfam:PF00056;Gene3D:3.40.50.720;TIGRFAM:TIGR01771;PIRSF:PIRSF000102;Superfamily:SSF51735;Prints:PR00086",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"ACCCACTACAG","551f5d54-07ca-470f-a61a-10d14b9c5089","598f91da-8038-4517-8d05-f861d5ffca9d","66c04b8f-42fd-44c5-945b-ee149bcf5dad",null,"COSM4040825","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF408",79797,"BI","GRCh38","chr11",46703033,46703033,"+","Missense_Mutation","SNP","C","C","T","rs775347285",null,"TCGA-RD-A8N6","TCGA-RD-A8N6-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"da25560c-b18a-46ff-b89f-d139aacc7107","1b771fd4-3ba8-423a-b938-174398672e56","c.442C>T","p.Arg148Trp","p.R148W","ENST00000311764","2024-04-05",46,40,6,30,null,null,"ZNF408,missense_variant,p.R148W,ENST00000311764,NM_001184751.2&NM_024741.3,c.442C>T,MODERATE,YES,tolerated(0.05),benign(0),1;ARHGAP1,upstream_gene_variant,,ENST00000311956,NM_004308.5,,MODIFIER,YES,,,-1;ZNF408,non_coding_transcript_exon_variant,,ENST00000527008,,n.319C>T,MODIFIER,,,,1;ARHGAP1,upstream_gene_variant,,ENST00000524594,,,MODIFIER,,,,-1;ZNF408,downstream_gene_variant,,ENST00000526410,,,MODIFIER,,,,1;ARHGAP1,upstream_gene_variant,,ENST00000529960,,,MODIFIER,,,,-1;ZNF408,downstream_gene_variant,,ENST00000531866,,,MODIFIER,,,,1;ZNF408,downstream_gene_variant,,ENST00000534481,,,MODIFIER,,,,1","T","ENSG00000175213","ENST00000311764","Transcript","missense_variant","missense_variant","459/2229","442/2163","148/720","R/W","Cgg/Tgg","rs775347285;COSV100305726",null,1,"ZNF408","HGNC","HGNC:20041","protein_coding","YES","CCDS7923.1","ENSP00000309606","Q9H9D4.170",null,"UPI0000132189",null,"NM_001184751.2;NM_024741.3","NM_024741.3","P1",null,"tolerated(0.05)","benign(0)","2024-04-05",null,"Gene3D:2.170.270.10;PANTHER:PTHR16515;PANTHER:PTHR16515:SF30",{"$nulls":8},"7.969e-06",0,0,0,0,0,"8.824e-06",0,"3.267e-05","3.267e-05","gnomAD_SAS","6.759590178262442e-06","2.4309600121341646e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CAGTGCGGATC","81d8b6f7-437c-4361-9fcd-5d0a7655487f","cc834446-f399-40d3-b75e-875a3ef7c0d1","f8557247-91fa-4772-ae14-958d709d9815",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ALPP",250,"BI","GRCh38","chr2",232379084,232379084,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-HU-8238","TCGA-HU-8238-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"6d52d758-db10-4969-8965-252e18c4422a","39c49034-aae8-4270-82ec-34005a04b4c2","c.190G>C","p.Asp64His","p.D64H","ENST00000392027","2024-02-11",105,84,20,367,null,null,"ALPP,missense_variant,p.D64H,ENST00000392027,NM_001632.5,c.190G>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ALPP,non_coding_transcript_exon_variant,,ENST00000474529,,n.269G>C,MODIFIER,,,,1;ALPP,upstream_gene_variant,,ENST00000485563,,,MODIFIER,,,,1;AC068134.1,downstream_gene_variant,,ENST00000439072,,,MODIFIER,,,,-1;AC068134.1,downstream_gene_variant,,ENST00000441266,,,MODIFIER,YES,,,-1","C","ENSG00000163283","ENST00000392027","Transcript","missense_variant","missense_variant","242/2754","190/1608","64/535","D/H","Gat/Cat","COSV101235187",null,1,"ALPP","HGNC","HGNC:439","protein_coding","YES","CCDS2490.1","ENSP00000375881","P05187.216",null,"UPI0000131FF9",null,"NM_001632.5","NM_001632.5","P1",null,"deleterious(0)","probably_damaging(1)","2024-02-11",null,"PDB-ENSP_mappings:1ew2.A;PDB-ENSP_mappings:1zeb.A;PDB-ENSP_mappings:1zed.A;PDB-ENSP_mappings:1zef.A;PDB-ENSP_mappings:2glq.A;Gene3D:3.40.720.10;PDB-ENSP_mappings:3mk0.A;PDB-ENSP_mappings:3mk1.A;PDB-ENSP_mappings:3mk2.A;Pfam:PF00245;Prints:PR00113;PANTHER:PTHR11596;PANTHER:PTHR11596:SF69;SMART:SM00098;Superfamily:SSF53649;CDD:cd16012",{"$nulls":19},"1.3526499969884753e-05",0,0,0,0,0,0,0,"1.543019970995374e-05",0.000494559993967413,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGGGCGATGGT","0470d458-3c6a-4c02-9331-4808b32c0a04","a8f1e628-bc70-4ed3-aac8-dff5d084095f","ac77e22d-42c0-4e06-b904-0dd5b31eb0d8",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["REV3L",5980,"BI","GRCh38","chr6",111343988,111343988,"+","Missense_Mutation","SNP","C","C","T","rs578253914",null,"TCGA-VQ-AA6K","TCGA-VQ-AA6K-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"63f86b3f-9266-4646-8346-b790adb091e5","e3221302-9b60-4c56-a2f9-5fb830973264","c.7475G>A","p.Arg2492His","p.R2492H","ENST00000358835","22/33",74,65,8,88,null,null,"REV3L,missense_variant,p.R2414H,ENST00000435970,NM_001286432.1&NM_001286431.2,c.7241G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;REV3L,missense_variant,p.R2492H,ENST00000358835,NM_002912.4,c.7475G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;REV3L,missense_variant,p.R2492H,ENST00000368802,NM_001372078.1,c.7475G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;MFSD4B,intron_variant,,ENST00000666581,,n.278-11795C>T,MODIFIER,,,,1;MFSD4B,intron_variant,,ENST00000673446,,n.180-11795C>T,MODIFIER,,,,1;REV3L,3_prime_UTR_variant,,ENST00000422377,,c.*7459G>A,MODIFIER,,,,-1;REV3L,3_prime_UTR_variant,,ENST00000434009,,c.*7566G>A,MODIFIER,,,,-1;REV3L,3_prime_UTR_variant,,ENST00000413831,,c.*298G>A,MODIFIER,,,,-1;REV3L,downstream_gene_variant,,ENST00000492520,,,MODIFIER,,,,-1","T","ENSG00000009413","ENST00000358835","Transcript","missense_variant","missense_variant","7933/10815","7475/9393","2492/3130","R/H","cGt/cAt","rs578253914;COSV100725435",null,-1,"REV3L","HGNC","HGNC:9968","protein_coding","YES","CCDS5091.2","ENSP00000351697","O60673.179",null,"UPI0000140023","O60673-1","NM_002912.4",null,"P4",null,"deleterious(0)","probably_damaging(0.996)","22/33",null,"Gene3D:3.30.420.10;PANTHER:PTHR45812;SMART:SM00486;Superfamily:SSF53098;CDD:cd05778",0.0004,0,0,0,0,2E-3,null,null,"4e-06",0,0,0,0,0,0,0,"3.29e-05",2E-3,"SAS","1.3545700312533882e-05",0,0,0,0,0,0,0,0,0,0.000418234994867816,0.000418234994867816,"sas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"GAAAACGCTGA","0a67f778-4d8c-4849-ac81-39647c5f76fa","bca94f7b-6067-43ef-a6fb-d3c2e6f2a0d8","83a0f9ef-4bf0-4efe-8713-f8b6ab4f5773",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["PCDHB11",56125,"BI","GRCh38","chr5",141200216,141200216,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8080","TCGA-BR-8080-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"9e4058de-9986-4dfe-b5f8-2503d0346e2e","b3aac2f9-d2de-4398-a22c-4b4a2509e824","c.442G>A","p.Val148Ile","p.V148I","ENST00000354757","2024-01-01",158,137,21,173,null,null,"PCDHB11,missense_variant,p.V148I,ENST00000354757,NM_018931.3,c.442G>A,MODERATE,YES,tolerated_low_confidence(0.1),benign(0.028),1;PCDHB11,intron_variant,,ENST00000624887,,c.-363-291G>A,MODIFIER,,,,1;PCDHB10,downstream_gene_variant,,ENST00000239446,NM_018930.4,,MODIFIER,YES,,,1;AC244517.11,intron_variant,,ENST00000624192,,n.72+41457C>T,MODIFIER,,,,-1;AC244517.4,intron_variant,,ENST00000624549,,n.131+1050C>T,MODIFIER,YES,,,-1","A","ENSG00000197479","ENST00000354757","Transcript","missense_variant","missense_variant","590/4153","442/2394","148/797","V/I","Gtt/Att","COSV53382514",null,1,"PCDHB11","HGNC","HGNC:8682","protein_coding","YES","CCDS4253.1","ENSP00000346802","Q9Y5F2.166",null,"UPI00001273E6","Q9Y5F2-1","NM_018931.3","NM_018931.3","P1",null,"tolerated_low_confidence(0.1)","benign(0.028)","2024-01-01",null,"Gene3D:2.60.40.60;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF91;Superfamily:SSF49313;CDD:cd11304",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"GTCCCGTTGGT","0ae91b63-d9ff-468b-8545-83013129f735","98e35105-0024-42ec-970e-0a759bd54d31","d0b78f02-2315-4c12-8b2a-ac1a110f882d",null,"COSM3851532","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["B4GALT3",8703,"BI","GRCh38","chr1",161175972,161175972,"+","Frame_Shift_Del","DEL","C","C","-","novel",null,"TCGA-F1-A448","TCGA-F1-A448-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"91adaff0-a6b9-4124-9234-cb79390607b1","8d50883c-c8e2-4fc0-a92c-86a4ceee4568","c.89del","p.Gly30AlafsTer55","p.G30Afs*55","ENST00000319769","2024-03-08",92,83,9,117,null,null,"B4GALT3,frameshift_variant,p.G30Afs*55,ENST00000622395,NM_001199874.1&NM_001199873.1,c.89del,HIGH,YES,,,-1;B4GALT3,frameshift_variant,p.G30Afs*55,ENST00000319769,NM_003779.4,c.89del,HIGH,,,,-1;B4GALT3,frameshift_variant,p.G30Afs*55,ENST00000367998,,c.89del,HIGH,,,,-1;PPOX,intron_variant,,ENST00000497522,,c.373-872del,MODIFIER,,,,1;PPOX,intron_variant,,ENST00000535223,,c.238-872del,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000352210,NM_000309.5,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000367999,NM_001350128.2&NM_001122764.3&NM_001365398.1,,MODIFIER,YES,,,1;PPOX,downstream_gene_variant,,ENST00000462866,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000537523,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000537829,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000544598,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000652103,NM_001350130.2&NM_001350129.2&NM_001350131.2&NM_001365400.1&NM_001365401.1,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000652182,NM_001365399.1,,MODIFIER,,,,1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000470882,,n.1449del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000496313,,n.511del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000467863,,n.833del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000493164,,n.321del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000465740,,n.185del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000487004,,n.362del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000482288,,n.516del,MODIFIER,,,,-1;B4GALT3,non_coding_transcript_exon_variant,,ENST00000460415,,n.393del,MODIFIER,,,,-1;B4GALT3,intron_variant,,ENST00000466504,,n.204-79del,MODIFIER,,,,-1;B4GALT3,upstream_gene_variant,,ENST00000486938,,,MODIFIER,,,,-1;PPOX,intron_variant,,ENST00000495483,,c.*930-872del,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000466452,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000541818,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000650741,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000651150,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000652100,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000652297,,,MODIFIER,,,,1;PPOX,downstream_gene_variant,,ENST00000652473,,,MODIFIER,,,,1","-","ENSG00000158850","ENST00000319769","Transcript","frameshift_variant","frameshift_variant","334/1933","89/1182","30/393","G/X","gGc/gc",null,null,-1,"B4GALT3","HGNC","HGNC:926","protein_coding",null,"CCDS1222.1","ENSP00000320965","O60512.180","A0A384NY44.9","UPI0000070AD6","O60512-1","NM_003779.4","NM_003779.4","P1",{"$nulls":3},"2024-03-08",null,"PANTHER:PTHR19300;PANTHER:PTHR19300:SF33;Transmembrane_helices:TMhelix",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"CGGAAGCCCCCC","9963c04f-ebb2-4d3f-b4d0-e91381dda0ee","6422f8cb-325a-43bd-bfbe-543a874b7dc6","cca74404-cd91-4a69-ae09-bfb5d9142d3d",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TONSL",4796,"BI","GRCh38","chr8",144435815,144435815,"+","Missense_Mutation","SNP","C","C","T","rs982377750",null,"TCGA-F1-A448","TCGA-F1-A448-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"91adaff0-a6b9-4124-9234-cb79390607b1","8d50883c-c8e2-4fc0-a92c-86a4ceee4568","c.2618G>A","p.Arg873His","p.R873H","ENST00000409379","17/26",98,76,22,122,null,null,"TONSL,missense_variant,p.R873H,ENST00000409379,NM_013432.5,c.2618G>A,MODERATE,YES,deleterious(0.02),benign(0.226),-1;TONSL,downstream_gene_variant,,ENST00000613741,,,MODIFIER,,,,-1;MIR6893,upstream_gene_variant,,ENST00000613458,,,MODIFIER,YES,,,-1;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,,n.3593G>A,MODIFIER,,,,-1;TONSL-AS1,upstream_gene_variant,,ENST00000442850,,,MODIFIER,YES,,,1","T","ENSG00000160949","ENST00000409379","Transcript","missense_variant","missense_variant","2644/4531","2618/4137","873/1378","R/H","cGt/cAt","rs982377750;COSV68048691",null,-1,"TONSL","HGNC","HGNC:7801","protein_coding","YES","CCDS34968.2","ENSP00000386239","Q96HA7.165",null,"UPI0000424A3B","Q96HA7-1","NM_013432.5","NM_013432.5","P1",null,"deleterious(0.02)","benign(0.226)","17/26",null,"PANTHER:PTHR46358;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"8.069e-06",0,0,0,0,0,"1.786e-05",0,0,"1.786e-05","gnomAD_NFE","6.769840183551423e-06","2.4366499928873964e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGGCACGGGGC","9963c04f-ebb2-4d3f-b4d0-e91381dda0ee","6422f8cb-325a-43bd-bfbe-543a874b7dc6","cca74404-cd91-4a69-ae09-bfb5d9142d3d",null,"COSM3898257;COSM3898258","N","Unknown",{"$nulls":3},"muse;varscan2"]
["A3GALT2",127550,"BI","GRCh38","chr1",33312112,33312112,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.275C>T","p.Ala92Val","p.A92V","ENST00000442999","2024-04-05",24,16,8,24,null,null,"A3GALT2,missense_variant,p.A92V,ENST00000442999,NM_001080438.1,c.275C>T,MODERATE,YES,tolerated(0.1),benign(0.106),-1;AL513327.1,intron_variant,,ENST00000457957,,n.80-2578G>A,MODIFIER,,,,1;AL513327.1,intron_variant,,ENST00000588828,,n.72+4675G>A,MODIFIER,,,,1;AL513327.1,intron_variant,,ENST00000624453,,n.80+4663G>A,MODIFIER,,,,1;AL513327.1,intron_variant,,ENST00000627421,,n.90+4675G>A,MODIFIER,,,,1;AL513327.1,intron_variant,,ENST00000630229,,n.80+4663G>A,MODIFIER,,,,1;AL513327.1,upstream_gene_variant,,ENST00000587696,,,MODIFIER,YES,,,1;AL513327.1,upstream_gene_variant,,ENST00000624012,,,MODIFIER,,,,1;AL513327.1,upstream_gene_variant,,ENST00000625117,,,MODIFIER,,,,1","A","ENSG00000184389","ENST00000442999","Transcript","missense_variant","missense_variant","275/1023","275/1023","92/340","A/V","gCc/gTc","COSV100378143",null,-1,"A3GALT2","HGNC","HGNC:30005","protein_coding","YES","CCDS60080.1","ENSP00000475261","U3KPV4.41",null,"UPI0000DD78AC",null,"NM_001080438.1","NM_001080438.1","P1",null,"tolerated(0.1)","benign(0.106)","2024-04-05",null,"CDD:cd02515;PANTHER:PTHR10462:SF33;PANTHER:PTHR10462;Gene3D:3.90.550.10;Pfam:PF03414;Superfamily:SSF53448",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"GCTTGGCCACA","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OPA1",4976,"BI","GRCh38","chr3",193626152,193626152,"+","Missense_Mutation","SNP","C","C","T","rs372957905",null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.739C>T","p.Arg247Cys","p.R247C","ENST00000361510","2024-07-31",52,42,10,37,null,null,"OPA1,missense_variant,p.R247C,ENST00000361510,NM_130837.3,c.739C>T,MODERATE,YES,deleterious(0.03),benign(0),1;OPA1,missense_variant,p.R229C,ENST00000361908,NM_130836.3,c.685C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.641),1;OPA1,missense_variant,p.R211C,ENST00000361715,NM_130835.3&NM_130832.3,c.631C>T,MODERATE,,tolerated(0.05),benign(0),1;OPA1,missense_variant,p.R193C,ENST00000361150,NM_001354663.2&NM_130833.3,c.577C>T,MODERATE,,tolerated(0.06),benign(0),1;OPA1,intron_variant,,ENST00000361828,NM_015560.3,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000392436,,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000392437,NM_130834.3,c.679-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000643329,NM_001354664.2,c.307-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000645553,,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000646793,NM_130831.3,c.517-5460C>T,MODIFIER,,,,1;Y_RNA,downstream_gene_variant,,ENST00000384640,,,MODIFIER,YES,,,1;OPA1,missense_variant,p.R247C,ENST00000646277,,c.739C>T,MODERATE,,deleterious(0.01),probably_damaging(0.979),1;OPA1,3_prime_UTR_variant,,ENST00000434811,,c.*269C>T,MODIFIER,,,,1;OPA1,non_coding_transcript_exon_variant,,ENST00000495476,,n.95C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000497189,,n.111-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000642289,,c.*209-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000642445,,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000642593,,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000643737,,c.*706-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000644595,,c.625-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000644629,,c.285-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000644841,,c.253-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000644959,,c.594-5460C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000646085,,c.625-2357C>T,MODIFIER,,,,1;OPA1,intron_variant,,ENST00000646699,,c.*209-5460C>T,MODIFIER,,,,1;OPA1-AS1,intron_variant,,ENST00000433105,,n.104+1077G>A,MODIFIER,YES,,,-1;OPA1-AS1,intron_variant,,ENST00000444085,,n.109+1077G>A,MODIFIER,,,,-1","T","ENSG00000198836","ENST00000361510","Transcript","missense_variant","missense_variant","909/6429","739/3048","247/1015","R/C","Cgc/Tgc","rs372957905",null,1,"OPA1","HGNC","HGNC:8140","protein_coding","YES",null,"ENSP00000355324","O60313.194",null,"UPI0000422965","O60313-10","NM_130837.3","NM_130837.3","A1",null,"deleterious(0.03)","benign(0)","2024-07-31",null,"Coiled-coils_(Ncoils):Coil;Low_complexity_(Seg):seg",{"$nulls":6},0.000227,0,"1.193e-05",0,"5.782e-05",0,0,0,"8.795e-06",0,0,0.000227,"AA","3.381069836905226e-05","4.86665012431331e-05",0,"6.626910180784762e-05",0,0,0,0,"3.086320066358894e-05",0,0,"4.86665012431331e-05","afr",{"$nulls":9},"MODERATE",null,"SNV",5,null,null,1,"AAGCGCGCAGA","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NIPSNAP2",2631,"BI","GRCh38","chr7",55994934,55994934,"+","Missense_Mutation","SNP","G","G","A","rs760837804",null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.658G>A","p.Val220Ile","p.V220I","ENST00000322090","2024-08-10",120,86,33,124,null,null,"NIPSNAP2,missense_variant,p.V220I,ENST00000322090,NM_001483.3,c.658G>A,MODERATE,YES,tolerated(0.07),benign(0.136),1;NIPSNAP2,missense_variant,p.V181I,ENST00000446778,NM_001202469.2,c.541G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.548),1;NIPSNAP2,missense_variant,p.V80I,ENST00000437587,,c.238G>A,MODERATE,,deleterious(0.03),benign(0.136),1;NIPSNAP2,3_prime_UTR_variant,,ENST00000415967,,c.*94G>A,MODIFIER,,,,1;NIPSNAP2,non_coding_transcript_exon_variant,,ENST00000497279,,n.2946G>A,MODIFIER,,,,1","A","ENSG00000146729","ENST00000322090","Transcript","missense_variant","missense_variant","683/1993","658/861","220/286","V/I","Gtc/Atc","rs760837804;COSV100436642",null,1,"NIPSNAP2","HGNC","HGNC:4179","protein_coding","YES","CCDS5521.1","ENSP00000313050","O75323.164",null,"UPI00000015EB","O75323-1","NM_001483.3","NM_001483.3","P1",null,"tolerated(0.07)","benign(0.136)","2024-08-10",null,"PANTHER:PTHR21017;PANTHER:PTHR21017:SF14;Gene3D:3.30.70.100;Pfam:PF07978;Superfamily:SSF54909",{"$nulls":8},"1.988e-05",0,1.156E-4,0,0,0,0,1.629E-4,0,1.629E-4,"gnomAD_OTH","6.7597698034660425e-06",0,0,"6.632180156884715e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AAGCCGTCGGA","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MUS81",80198,"BI","GRCh38","chr11",65861031,65861031,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.194T>A","p.Ile65Asn","p.I65N","ENST00000308110","2024-02-16",65,48,16,90,null,null,"MUS81,missense_variant,p.I65N,ENST00000308110,NM_001350283.2&NM_025128.5,c.194T>A,MODERATE,YES,deleterious(0),possibly_damaging(0.655),1;MUS81,missense_variant,p.I130N,ENST00000529857,,c.389T>A,MODERATE,,deleterious(0),possibly_damaging(0.858),1;MUS81,5_prime_UTR_variant,,ENST00000533035,,c.-32T>A,MODIFIER,,,,1;MUS81,5_prime_UTR_variant,,ENST00000525768,,c.-32T>A,MODIFIER,,,,1;CFL1,intron_variant,,ENST00000532134,,c.3+340A>T,MODIFIER,,,,-1;CFL1,intron_variant,,ENST00000534769,,c.117+226A>T,MODIFIER,YES,,,-1;CFL1,upstream_gene_variant,,ENST00000308162,NM_005507.3,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000524553,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000525451,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000526975,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000527344,,,MODIFIER,,,,-1;MUS81,upstream_gene_variant,,ENST00000529374,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000529742,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000530111,,,MODIFIER,,,,1;CFL1,upstream_gene_variant,,ENST00000530413,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000531407,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000531413,,,MODIFIER,,,,-1;CFL1,upstream_gene_variant,,ENST00000534784,,,MODIFIER,,,,-1;MUS81,upstream_gene_variant,,ENST00000525006,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000525224,,,MODIFIER,,,,1;CFL1,upstream_gene_variant,,ENST00000527752,,,MODIFIER,,,,-1;MUS81,missense_variant,p.I30N,ENST00000524647,,c.89T>A,MODERATE,,deleterious(0),probably_damaging(0.945),1;MUS81,upstream_gene_variant,,ENST00000525147,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000529786,,,MODIFIER,,,,1;SNX32,downstream_gene_variant,,ENST00000530101,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000530282,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000530928,,,MODIFIER,,,,1;CFL1,upstream_gene_variant,,ENST00000530945,,,MODIFIER,,,,-1;MUS81,upstream_gene_variant,,ENST00000531905,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000533519,,,MODIFIER,,,,1;MUS81,upstream_gene_variant,,ENST00000533555,,,MODIFIER,,,,1","A","ENSG00000172732","ENST00000308110","Transcript","missense_variant","missense_variant","515/2364","194/1656","65/551","I/N","aTc/aAc","COSV100353995",null,1,"MUS81","HGNC","HGNC:29814","protein_coding","YES","CCDS8115.1","ENSP00000307853","Q96NY9.164",null,"UPI000013ECCB",null,"NM_001350283.2;NM_025128.5","NM_025128.5","P1",null,"deleterious(0)","possibly_damaging(0.655)","2024-02-16",null,"PANTHER:PTHR13451:SF0;PANTHER:PTHR13451;Gene3D:1.10.150.110;Superfamily:SSF47802",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TAAGATCCTAC","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MIDEAS",91748,"BI","GRCh38","chr14",73739903,73739903,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.106del","p.Gln36SerfsTer6","p.Q36Sfs*6","ENST00000286523","2024-02-12",49,37,12,64,null,null,"MIDEAS,frameshift_variant,p.Q36Sfs*6,ENST00000286523,NM_194278.3,c.106del,HIGH,,,,-1;MIDEAS,frameshift_variant,p.Q36Sfs*6,ENST00000394071,NM_001043318.3,c.106del,HIGH,,,,-1;MIDEAS,frameshift_variant,p.Q36Sfs*6,ENST00000435371,,c.106del,HIGH,,,,-1;MIDEAS,frameshift_variant,p.Q36Sfs*6,ENST00000423556,NM_001367710.1,c.106del,HIGH,YES,,,-1;MIDEAS,frameshift_variant,p.Q36Sfs*6,ENST00000421708,,c.106del,HIGH,,,,-1;MIDEAS,downstream_gene_variant,,ENST00000486739,,,MODIFIER,,,,-1;MIDEAS,upstream_gene_variant,,ENST00000451078,,,MODIFIER,,,,-1","-","ENSG00000156030","ENST00000286523","Transcript","frameshift_variant","frameshift_variant","889/8091","106/3138","36/1045","Q/X","Cag/ag","COSV54098507",null,-1,"MIDEAS","HGNC","HGNC:19853","protein_coding",null,"CCDS9819.1","ENSP00000286523","Q6PJG2.137","A0A024R689.50","UPI00001FD815",null,"NM_194278.3",{"$nulls":5},"2024-02-12",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR16089;PANTHER:PTHR16089:SF24",{"$nulls":33},1,{"$nulls":7},"HIGH",null,"deletion",1,null,1,null,"ACTGCTGGGGGG","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,"COSM1371008","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RNF43",54894,"BI","GRCh38","chr17",58357800,58357800,"+","Frame_Shift_Del","DEL","C","C","-","rs755128667",null,"TCGA-VQ-A8PP","TCGA-VQ-A8PP-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fca1049b-2491-4b4a-a623-1c5905042eee","bf81a338-c8d6-45ff-8f47-17e3cab21eab","c.1976del","p.Gly659ValfsTer41","p.G659Vfs*41","ENST00000407977","2024-09-10",105,59,46,125,null,null,"RNF43,frameshift_variant,p.G659Vfs*41,ENST00000584437,,c.1976del,HIGH,YES,,,-1;RNF43,frameshift_variant,p.G659Vfs*41,ENST00000407977,NM_017763.6,c.1976del,HIGH,,,,-1;RNF43,frameshift_variant,p.G659Vfs*41,ENST00000577716,NM_001305544.2,c.1976del,HIGH,,,,-1;RNF43,frameshift_variant,p.G618Vfs*41,ENST00000583753,,c.1853del,HIGH,,,,-1;RNF43,frameshift_variant,p.G532Vfs*41,ENST00000581868,,c.1595del,HIGH,,,,-1;RNF43,frameshift_variant,p.G532Vfs*41,ENST00000577625,NM_001305545.1,c.1595del,HIGH,,,,-1;SUPT4H1,upstream_gene_variant,,ENST00000580947,,,MODIFIER,,,,-1;AC004687.2,frameshift_variant,p.G659Vfs*41,ENST00000648873,,c.1976del,HIGH,YES,,,-1;TSPOAP1-AS1,intron_variant,,ENST00000583841,,n.434+20127del,MODIFIER,,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000578025,,,MODIFIER,,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000579527,,,MODIFIER,,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000579859,,,MODIFIER,,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000580022,,,MODIFIER,YES,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000585236,,,MODIFIER,,,,1;TSPOAP1-AS1,downstream_gene_variant,,ENST00000667382,,,MODIFIER,,,,1","-","ENSG00000108375","ENST00000407977","Transcript","frameshift_variant","frameshift_variant","2879/4522","1976/2352","659/783","G/X","gGt/gt","rs755128667;COSV68457540",null,-1,"RNF43","HGNC","HGNC:18505","protein_coding",null,"CCDS11607.1","ENSP00000385328","Q68DV7.150",null,"UPI000022A469","Q68DV7-1","NM_017763.6","NM_017763.6","P1",{"$nulls":3},"2024-09-10",null,"PANTHER:PTHR16200;PANTHER:PTHR16200:SF2;MobiDB_lite:mobidb-lite",{"$nulls":8},"4.001e-06",0,0,0,0,0,"8.853e-06",0,0,"8.853e-06","gnomAD_NFE","6.831350219727028e-06",0,0,0,0,0,0,0,"1.55158995767124e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"HIGH",null,"deletion",2,null,"0;1",1,"GAGGGACCCCCC","cf62e58b-1b8d-4e62-ae3c-957d69fea04c","1603278f-b352-4e40-8f37-c3c50c5ba6e5","e181474c-1585-4aed-ba90-bae5324569d5",null,"COSM270052","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["UBE2Q1",55585,"BI","GRCh38","chr1",154555937,154555937,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-CG-4438","TCGA-CG-4438-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0865b5f7-872c-4a12-9c56-920b1a0e9507","cd292dea-13b3-44d2-a0bd-dc31297be244","c.355T>A","p.Trp119Arg","p.W119R","ENST00000292211","2024-02-13",161,140,21,205,null,null,"UBE2Q1,missense_variant,p.W119R,ENST00000292211,NM_017582.7,c.355T>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;UBE2Q1,non_coding_transcript_exon_variant,,ENST00000497453,,n.288T>A,MODIFIER,,,,-1;UBE2Q1,upstream_gene_variant,,ENST00000467683,,,MODIFIER,,,,-1;UBE2Q1,upstream_gene_variant,,ENST00000474181,,,MODIFIER,,,,-1;UBE2Q1,upstream_gene_variant,,ENST00000476612,,,MODIFIER,,,,-1;UBE2Q1,upstream_gene_variant,,ENST00000483639,,,MODIFIER,,,,-1;UBE2Q1,upstream_gene_variant,,ENST00000491572,,,MODIFIER,,,,-1;UBE2Q1-AS1,downstream_gene_variant,,ENST00000441613,,,MODIFIER,YES,,,1","T","ENSG00000160714","ENST00000292211","Transcript","missense_variant","missense_variant","464/3239","355/1269","119/422","W/R","Tgg/Agg","COSV52725211",null,-1,"UBE2Q1","HGNC","HGNC:15698","protein_coding","YES","CCDS1069.1","ENSP00000292211","Q7Z7E8.152",null,"UPI00001A36E2","Q7Z7E8-1","NM_017582.7","NM_017582.7","P1",null,"deleterious(0)","probably_damaging(1)","2024-02-13",null,"Superfamily:SSF54495",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CGACCAGATGG","3feca666-9392-4281-a782-d1c8b855efd9","9a25fb24-38dd-45de-b9e3-4dfe5327de3a","0246823f-99f4-4a46-b2b1-27f81179584c",null,"COSM4022823","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NADK",65220,"BI","GRCh38","chr1",1753598,1753598,"+","Missense_Mutation","SNP","G","G","A","rs761513924",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.1153C>T","p.Arg385Trp","p.R385W","ENST00000341426","2024-11-12",37,23,14,37,null,null,"NADK,missense_variant,p.R530W,ENST00000378625,NM_001198994.2,c.1588C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;NADK,missense_variant,p.R385W,ENST00000341426,NM_023018.5,c.1153C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NADK,missense_variant,p.R385W,ENST00000341991,NM_001353641.2&NM_001198993.2,c.1153C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NADK,missense_variant,p.R353W,ENST00000342348,NM_001353642.2&NM_001198995.1,c.1057C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;NADK,downstream_gene_variant,,ENST00000469045,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000492768,,,MODIFIER,,,,-1;NADK,3_prime_UTR_variant,,ENST00000498806,,c.*35C>T,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000460602,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000477235,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000480499,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000489538,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000492845,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000497186,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000497615,,,MODIFIER,,,,-1;NADK,downstream_gene_variant,,ENST00000497747,,,MODIFIER,,,,-1","A","ENSG00000008130","ENST00000341426","Transcript","missense_variant","missense_variant","1375/3235","1153/1341","385/446","R/W","Cgg/Tgg","rs761513924;COSV58270839",null,-1,"NADK","HGNC","HGNC:29831","protein_coding",null,"CCDS30565.1","ENSP00000341679","O95544.170","A0A024R058.49","UPI00001320B0","O95544-1","NM_023018.5","NM_023018.5","P1",null,"deleterious(0)","probably_damaging(1)","2024-11-12",null,"PDB-ENSP_mappings:3pfn.A;PDB-ENSP_mappings:3pfn.B;PDB-ENSP_mappings:3pfn.C;PDB-ENSP_mappings:3pfn.D;HAMAP:MF_00361;PANTHER:PTHR20275:SF30;PANTHER:PTHR20275;Gene3D:2.60.200.30;Pfam:PF01513;Gene3D:3.40.50.10330;Superfamily:SSF111331",{"$nulls":8},"1.205e-05",0,"2.907e-05",0,0,0,"8.898e-06",0,"3.317e-05","3.317e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"CTTCCGTCCAT","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,"COSM4024879;COSM4024880;COSM4024881","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL4A4",1286,"BI","GRCh38","chr2",227008067,227008067,"+","Frame_Shift_Del","DEL","G","G","-","rs1206142672",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.4760del","p.Pro1587HisfsTer16","p.P1587Hfs*16","ENST00000396625","47/48",65,48,17,50,null,null,"COL4A4,frameshift_variant,p.P1587Hfs*16,ENST00000396625,NM_000092.5,c.4760del,HIGH,YES,,,-1","-","ENSG00000081052","ENST00000396625","Transcript","frameshift_variant","frameshift_variant","5060/9984","4760/5073","1587/1690","P/X","cCa/ca","rs1206142672;CM1310323",null,-1,"COL4A4","HGNC","HGNC:2206","protein_coding","YES","CCDS42828.1","ENSP00000379866","P53420.204",null,"UPI000013D987",null,"NM_000092.5","NM_000092.5","P1",{"$nulls":3},"47/48",null,"Gene3D:2.170.240.10;PDB-ENSP_mappings:5nb1.A;PDB-ENSP_mappings:5nb1.B;PDB-ENSP_mappings:5nb1.C;PDB-ENSP_mappings:5nb1.D;PDB-ENSP_mappings:5nb1.E;PDB-ENSP_mappings:5nb1.F;Pfam:PF01413;PROSITE_profiles:PS51403;PANTHER:PTHR24023;PANTHER:PTHR24023:SF714;SMART:SM00111;Superfamily:SSF56436",{"$nulls":32},"likely_pathogenic",{"$nulls":8},"HIGH",1,"deletion",5,null,"1;1",1,"GGACATGGGGGG","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["GPR78",27201,"BI","GRCh38","chr4",8581214,8581214,"+","Missense_Mutation","SNP","G","G","A","rs570019246",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.232G>A","p.Ala78Thr","p.A78T","ENST00000382487","2024-01-03",23,16,7,37,null,null,"GPR78,missense_variant,p.A78T,ENST00000382487,NM_080819.5,c.232G>A,MODERATE,YES,tolerated(0.12),benign(0.017),1;GPR78,intron_variant,,ENST00000509216,,n.468+510G>A,MODIFIER,,,,1;GPR78,downstream_gene_variant,,ENST00000503448,,,MODIFIER,,,,1;GPR78,downstream_gene_variant,,ENST00000503981,,,MODIFIER,,,,1;GPR78,upstream_gene_variant,,ENST00000504255,,,MODIFIER,,,,1;GPR78,missense_variant,p.A78T,ENST00000514302,,c.232G>A,MODERATE,,tolerated(0.13),benign(0.017),1","A","ENSG00000155269","ENST00000382487","Transcript","missense_variant","missense_variant","823/4343","232/1092","78/363","A/T","Gca/Aca","rs570019246;COSV66762750",null,1,"GPR78","HGNC","HGNC:4528","protein_coding","YES","CCDS3403.1","ENSP00000371927","Q96P69.134","B2R7M4.91","UPI0000037A5F",null,"NM_080819.5","NM_080819.5","P1",null,"tolerated(0.12)","benign(0.017)","2024-01-03",null,"PROSITE_profiles:PS50262;CDD:cd15219;PANTHER:PTHR24245;PANTHER:PTHR24245:SF7;Gene3D:1.20.1070.10;Pfam:PF00001;Superfamily:SSF81321",{"$nulls":8},"1.778e-05",0,0,0,0,0,"3.88e-05",0,0,"3.88e-05","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CCGGCGCATGC","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,"COSM4126462","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IMPG1",3617,"BI","GRCh38","chr6",75950621,75950621,"+","Missense_Mutation","SNP","C","C","T","rs752856075",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.1765G>A","p.Asp589Asn","p.D589N","ENST00000369950","13/17",57,37,20,49,null,null,"IMPG1,missense_variant,p.D589N,ENST00000369950,NM_001563.4,c.1765G>A,MODERATE,YES,tolerated(0.12),possibly_damaging(0.467),-1;IMPG1,missense_variant,p.D511N,ENST00000611179,NM_001282368.1,c.1531G>A,MODERATE,,tolerated(0.11),benign(0.062),-1","T","ENSG00000112706","ENST00000369950","Transcript","missense_variant","missense_variant","1939/3543","1765/2394","589/797","D/N","Gac/Aac","rs752856075;COSV64054476",null,-1,"IMPG1","HGNC","HGNC:6055","protein_coding","YES","CCDS4985.1","ENSP00000358966","Q17R60.108",null,"UPI0000073F12","Q17R60-1","NM_001563.4","NM_001563.4","P3",null,"tolerated(0.12)","possibly_damaging(0.467)","13/17",null,"PROSITE_profiles:PS50024;PANTHER:PTHR12199:SF3;PANTHER:PTHR12199;Pfam:PF01390;Gene3D:3.30.70.960;SMART:SM00200;Superfamily:SSF82671",{"$nulls":8},"1.197e-05",0,0,0,0,0,"1.766e-05",0,"3.272e-05","3.272e-05","gnomAD_SAS","6.760869837307837e-06","2.4311999368364923e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CAGGTCGTTGG","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,"COSM3784725","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GATA3",2625,"BI","GRCh38","chr10",8058783,8058783,"+","Frame_Shift_Del","DEL","G","G","-","novel",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.722del","p.Gly241AlafsTer24","p.G241Afs*24","ENST00000346208","2024-03-06",59,48,11,85,null,null,"GATA3,frameshift_variant,p.G241Afs*25,ENST00000379328,NM_001002295.2,c.722del,HIGH,YES,,,1;GATA3,frameshift_variant,p.G241Afs*24,ENST00000346208,NM_002051.3,c.722del,HIGH,,,,1;GATA3,downstream_gene_variant,,ENST00000481743,,,MODIFIER,,,,1;GATA3,downstream_gene_variant,,ENST00000643001,,,MODIFIER,,,,1;GATA3,non_coding_transcript_exon_variant,,ENST00000461472,,n.387del,MODIFIER,,,,1","-","ENSG00000107485","ENST00000346208","Transcript","frameshift_variant","frameshift_variant","1171/2650","720/1332","240/443","L/X","ctG/ct",null,null,1,"GATA3","HGNC","HGNC:4172","protein_coding",null,"CCDS7083.1","ENSP00000341619","P23771.205",null,"UPI000004904B","P23771-1","NM_002051.3",null,"A1",{"$nulls":3},"2024-03-06",null,"PIRSF:PIRSF003027;PANTHER:PTHR10071;PANTHER:PTHR10071:SF106;Low_complexity_(Seg):seg",{"$nulls":41},"HIGH",null,"deletion",1,2,null,1,"CCTGCTGGGCGG","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["EML1",2009,"BI","GRCh38","chr14",99940054,99940054,"+","Missense_Mutation","SNP","G","G","A","rs756953819",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.2390G>A","p.Ser797Asn","p.S797N","ENST00000262233","22/22",63,48,15,87,null,null,"EML1,missense_variant,p.S822N,ENST00000649352,,c.2465G>A,MODERATE,YES,deleterious(0.02),benign(0.018),1;EML1,missense_variant,p.S797N,ENST00000262233,NM_001375411.1&NM_004434.3&NM_001375412.1,c.2390G>A,MODERATE,,deleterious(0.02),benign(0.031),1;EML1,missense_variant,p.S816N,ENST00000334192,NM_001008707.2,c.2447G>A,MODERATE,,deleterious(0.02),benign(0.131),1;EML1,missense_variant,p.S785N,ENST00000327921,,c.2354G>A,MODERATE,,deleterious(0.02),benign(0.067),1;EML1,non_coding_transcript_exon_variant,,ENST00000553313,,n.463G>A,MODIFIER,,,,1;EML1,downstream_gene_variant,,ENST00000557313,,,MODIFIER,,,,1","A","ENSG00000066629","ENST00000262233","Transcript","missense_variant","missense_variant","2454/4460","2390/2448","797/815","S/N","aGc/aAc","rs756953819;COSV51743051",null,1,"EML1","HGNC","HGNC:3330","protein_coding",null,"CCDS32155.1","ENSP00000262233","O00423.177",null,"UPI000013D278","O00423-1","NM_001375411.1;NM_004434.3;NM_001375412.1","NM_004434.3","P4",null,"deleterious(0.02)","benign(0.031)","22/22",null,"PDB-ENSP_mappings:4ci8.A;PDB-ENSP_mappings:4ci8.B;Superfamily:SSF50978;SMART:SM00320;Pfam:PF00400;Gene3D:2.130.10.10;PANTHER:PTHR13720:SF22;PANTHER:PTHR13720;PROSITE_profiles:PS50294;PROSITE_profiles:PS50082",{"$nulls":8},"4.926e-05","6.261e-05",0,0,0,3.258E-4,"3.588e-05",0,0,3.258E-4,"gnomAD_FIN","1.3575199773185886e-05",0,0,0,0,0,0.000188892998266965,0,0,0,0,0.000188892998266965,"fin",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"AGACAGCCACC","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,"COSM4049052","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FLYWCH1",84256,"BI","GRCh38","chr16",2933438,2933438,"+","Missense_Mutation","SNP","G","G","A","rs757899219",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.1105G>A","p.Val369Met","p.V369M","ENST00000253928","2024-05-10",18,12,6,22,null,null,"FLYWCH1,missense_variant,p.V369M,ENST00000253928,NM_001308068.2,c.1105G>A,MODERATE,YES,tolerated(0.09),probably_damaging(0.988),1;FLYWCH1,missense_variant,p.V368M,ENST00000416288,NM_032296.2&NM_020912.1,c.1102G>A,MODERATE,,tolerated(0.1),benign(0.1),1;FLYWCH1,missense_variant,p.V98M,ENST00000344592,,c.292G>A,MODERATE,,tolerated(0.09),benign(0.241),1;FLYWCH1,missense_variant,p.V132M,ENST00000573564,,c.394G>A,MODERATE,,tolerated(0.09),benign(0.197),1;FLYWCH1,downstream_gene_variant,,ENST00000570425,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000571580,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000571983,,,MODIFIER,,,,1;FLYWCH1,downstream_gene_variant,,ENST00000573525,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000575679,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000570752,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000575604,,,MODIFIER,,,,1;FLYWCH1,upstream_gene_variant,,ENST00000574985,,,MODIFIER,,,,1","A","ENSG00000059122","ENST00000253928","Transcript","missense_variant","missense_variant","1516/5043","1105/2151","369/716","V/M","Gtg/Atg","rs757899219;COSV54144466",null,1,"FLYWCH1","HGNC","HGNC:25404","protein_coding","YES","CCDS76809.1","ENSP00000253928","Q4VC44.115",null,"UPI000013CE05","Q4VC44-1","NM_001308068.2","NM_001308068.2","P4",null,"tolerated(0.09)","probably_damaging(0.988)","2024-05-10",null,"Pfam:PF16662;PANTHER:PTHR31665;PANTHER:PTHR31665:SF3",{"$nulls":8},"1.809e-05",0,0,0,"6.195e-05",0,0,1.816E-4,"7.098e-05",1.816E-4,"gnomAD_OTH","1.3521899745683186e-05","4.864759830525145e-05",0,0,0,0,0,0,0,0,0,"4.864759830525145e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GAGGCGTGGAT","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,"COSM4059960;COSM4059961","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SLC16A5",9121,"BI","GRCh38","chr17",75098132,75098134,"+","In_Frame_Del","DEL","CTT","CTT","-","novel",null,"TCGA-HU-A4GQ","TCGA-HU-A4GQ-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"e1b8c6d7-933b-450a-9cb3-3266e6ff8096","b0459656-b4a9-4132-87e0-047418fbb6fe","c.296_298del","p.Phe99del","p.F99del","ENST00000329783","2024-04-07",226,170,55,211,null,null,"SLC16A5,inframe_deletion,p.F99del,ENST00000450736,,c.296_298del,MODERATE,YES,,,1;SLC16A5,inframe_deletion,p.F99del,ENST00000580123,NM_001271765.2,c.296_298del,MODERATE,,,,1;SLC16A5,inframe_deletion,p.F99del,ENST00000329783,NM_001369668.1&NM_004695.4,c.296_298del,MODERATE,,,,1;SLC16A5,inframe_deletion,p.F139del,ENST00000538213,,c.416_418del,MODERATE,,,,1;SLC16A5,inframe_deletion,p.F99del,ENST00000578376,,c.296_298del,MODERATE,,,,1;SLC16A5,inframe_deletion,p.F99del,ENST00000584118,,c.296_298del,MODERATE,,,,1;SLC16A5,inframe_deletion,p.F129del,ENST00000584207,,c.386_388del,MODERATE,,,,1;SLC16A5,downstream_gene_variant,,ENST00000578847,,,MODIFIER,,,,1;SLC16A5,non_coding_transcript_exon_variant,,ENST00000585293,,n.602_604del,MODIFIER,,,,1;SLC16A5,non_coding_transcript_exon_variant,,ENST00000582048,,n.424_426del,MODIFIER,,,,1","-","ENSG00000170190","ENST00000329783","Transcript","inframe_deletion","inframe_deletion","587-589/1940","294-296/1518","98-99/505","SF/S","tcCTTc/tcc",null,null,1,"SLC16A5","HGNC","HGNC:10926","protein_coding",null,"CCDS11713.1","ENSP00000330141","O15375.160",null,"UPI0000000DC7","O15375-1","NM_001369668.1;NM_004695.4","NM_004695.4","P4",{"$nulls":3},"2024-04-07",null,"Gene3D:1.20.1250.20;Pfam:PF07690;PROSITE_profiles:PS50850;PANTHER:PTHR11360;PANTHER:PTHR11360:SF21;Superfamily:SSF103473;TIGRFAM:TIGR00892;Transmembrane_helices:TMhelix;CDD:cd17425",{"$nulls":41},"MODERATE",null,"deletion",1,2,null,null,"CAGCTCCTTCTCTC","cb2b3665-983a-4be6-807a-adfb3465d8df","a5bf0ada-d708-40f0-906b-b1eeca3ba61a","7739f659-0e25-4404-ad25-ee52fbbcfd44",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["KNL1",57082,"BI","GRCh38","chr15",40606411,40606411,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-B7-A5TN","TCGA-B7-A5TN-10A-01D-A31J-08",{"$nulls":8},"Somatic",{"$nulls":6},"d61403b6-dcc5-46e2-97d6-ec37e494dd48","06da164d-914e-49b2-afac-ce692e3108d4","c.94A>T","p.Ser32Cys","p.S32C","ENST00000346991","2024-04-27",40,34,6,50,null,null,"KNL1,missense_variant,p.S32C,ENST00000346991,NM_170589.5,c.94A>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;KNL1,missense_variant,p.S32C,ENST00000399668,NM_144508.5,c.94A>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;KNL1,missense_variant,p.S32C,ENST00000527044,,c.94A>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;KNL1,5_prime_UTR_variant,,ENST00000528975,,c.-126A>T,MODIFIER,,,,1;KNL1,intron_variant,,ENST00000532056,,c.-84-2436A>T,MODIFIER,,,,1;KNL1,non_coding_transcript_exon_variant,,ENST00000614337,,n.469A>T,MODIFIER,,,,1;KNL1,missense_variant,p.S32C,ENST00000534204,,c.94A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),1;KNL1,non_coding_transcript_exon_variant,,ENST00000533001,,n.239A>T,MODIFIER,,,,1","T","ENSG00000137812","ENST00000346991","Transcript","missense_variant","missense_variant","484/9573","94/7029","32/2342","S/C","Agt/Tgt","COSV100707172",null,1,"KNL1","HGNC","HGNC:24054","protein_coding","YES","CCDS42023.1","ENSP00000335463","Q8NG31.150",null,"UPI0000E59BD3","Q8NG31-1","NM_170589.5",null,"P4",null,"deleterious(0)","probably_damaging(0.996)","2024-04-27",null,"PANTHER:PTHR16520;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAAGGAGTCCT","e592ba96-9b91-45fc-86a7-0c1e20192204","aa07d0e9-4333-4b0a-a43c-60884d05ee27","77535af0-def4-439c-b50d-8720712235dd",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TCF7L2",6934,"BI","GRCh38","chr10",113040104,113040104,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-CD-8529","TCGA-CD-8529-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"931b24da-5d6d-4c2d-8de9-ef32d6eb8565","5faa05c2-24b8-4af2-8552-4d60486c0bcd","c.530C>A","p.Ser177Tyr","p.S177Y","ENST00000355995","2024-05-15",68,52,16,106,null,null,"TCF7L2,missense_variant,p.S48Y,ENST00000542695,,c.143C>A,MODERATE,,deleterious(0),probably_damaging(0.992),1;TCF7L2,missense_variant,p.S177Y,ENST00000355995,NM_001367943.1,c.530C>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.998),1;TCF7L2,missense_variant,p.S177Y,ENST00000543371,,c.530C>A,MODERATE,,deleterious(0.02),probably_damaging(0.956),1;TCF7L2,missense_variant,p.S177Y,ENST00000627217,NM_001146274.2,c.530C>A,MODERATE,,deleterious(0.02),probably_damaging(0.945),1;TCF7L2,missense_variant,p.S177Y,ENST00000538897,NM_001198531.2&NM_001198529.2&NM_001146284.2&NM_001363501.1,c.530C>A,MODERATE,,deleterious(0.02),possibly_damaging(0.577),1;TCF7L2,missense_variant,p.S154Y,ENST00000536810,NM_001146285.1,c.461C>A,MODERATE,,tolerated(0.07),probably_damaging(0.998),1;TCF7L2,missense_variant,p.S154Y,ENST00000369397,NM_030756.5,c.461C>A,MODERATE,,tolerated(0.07),probably_damaging(0.985),1;TCF7L2,missense_variant,p.S154Y,ENST00000545257,NM_001198525.2,c.461C>A,MODERATE,,tolerated(0.07),probably_damaging(0.93),1;TCF7L2,missense_variant,p.S154Y,ENST00000355717,NM_001146283.2&NM_001146286.2,c.461C>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;TCF7L2,missense_variant,p.S154Y,ENST00000629706,NM_001198526.2,c.461C>A,MODERATE,,tolerated(0.07),probably_damaging(0.996),1;TCF7L2,missense_variant,p.S154Y,ENST00000352065,NM_001198528.2&NM_001349871.1&NM_001349870.2,c.461C>A,MODERATE,,tolerated(0.08),possibly_damaging(0.861),1;TCF7L2,missense_variant,p.S154Y,ENST00000369395,NM_001198527.2,c.461C>A,MODERATE,,tolerated(0.07),probably_damaging(0.972),1;TCF7L2,missense_variant,p.S124Y,ENST00000346198,,c.371C>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;TCF7L2,intron_variant,,ENST00000534894,NM_001198530.1,c.381+88497C>A,MODIFIER,,,,1","A","ENSG00000148737","ENST00000355995","Transcript","missense_variant","missense_variant","1037/4073","530/1860","177/619","S/Y","tCc/tAc","COSV60511994",null,1,"TCF7L2","HGNC","HGNC:11641","protein_coding","YES",null,"ENSP00000348274","Q9NQB0.204",null,"UPI0000136848","Q9NQB0-1","NM_001367943.1",null,"A2",null,"deleterious(0.02)","probably_damaging(0.998)","2024-05-15",null,"Pfam:PF08347;PANTHER:PTHR10373;PANTHER:PTHR10373:SF32",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCGGTCCCCAT","7ac60043-36cd-4297-99aa-0125201f7ed2","740deba6-e475-49d9-b653-90f134a53d1c","5b7e557a-6aee-4077-b3cd-c96179e643ae",null,"COSM4011647;COSM4011648;COSM4011649","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GP2",2813,"BI","GRCh38","chr16",20324040,20324040,"+","Missense_Mutation","SNP","G","G","A","rs775810544",null,"TCGA-BR-A44U","TCGA-BR-A44U-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"65ea2772-2b1c-4f32-9d08-de3133164565","bbdeaf3b-83c8-4f4e-a85e-d412a39556da","c.311C>T","p.Ser104Leu","p.S104L","ENST00000381362","2024-03-12",83,52,31,157,null,null,"GP2,missense_variant,p.S104L,ENST00000302555,NM_001502.4,c.311C>T,MODERATE,,deleterious(0),benign(0),-1;GP2,missense_variant,p.S104L,ENST00000381362,NM_001007240.3,c.311C>T,MODERATE,YES,deleterious(0),benign(0.065),-1;GP2,missense_variant,p.S16L,ENST00000572347,,c.47C>T,MODERATE,,deleterious(0),benign(0.05),-1;GP2,missense_variant,p.S104L,ENST00000575449,,c.311C>T,MODERATE,,deleterious(0),benign(0.065),-1;GP2,missense_variant,p.S39L,ENST00000572478,,c.116C>T,MODERATE,,deleterious(0),benign(0.015),-1;GP2,intron_variant,,ENST00000341642,NM_001007242.3,c.95-1061C>T,MODIFIER,,,,-1;GP2,intron_variant,,ENST00000381360,NM_001007241.3,c.95-651C>T,MODIFIER,,,,-1;GP2,intron_variant,,ENST00000575582,,c.95-1061C>T,MODIFIER,,,,-1;GP2,upstream_gene_variant,,ENST00000573897,,,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000575730,,,MODIFIER,,,,-1;GP2,intron_variant,,ENST00000574982,,c.*36-1061C>T,MODIFIER,,,,-1","A","ENSG00000169347","ENST00000381362","Transcript","missense_variant","missense_variant","388/2425","311/1614","104/537","S/L","tCg/tTg","rs775810544;COSV56895587",null,-1,"GP2","HGNC","HGNC:4441","protein_coding","YES","CCDS42128.1","ENSP00000370767","P55259.160",null,"UPI000059D333","P55259-1","NM_001007240.3",null,"A2",null,"deleterious(0)","benign(0.065)","2024-03-12",null,"PANTHER:PTHR14002:SF16;PANTHER:PTHR14002",{"$nulls":8},"1.593e-05",0,0,0,"5.438e-05","4.62e-05","8.814e-06",0,"3.266e-05","5.438e-05","gnomAD_EAS","6.759680218237918e-06","2.4321399905602448e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TCTCCGACATC","5b06c96a-ad3b-4dd4-8328-1970952eeae0","8c65b4db-a85f-4c5d-bb5c-5627cc039c3d","7840d10b-4927-4731-8dda-5f288da21bef",null,"COSM4058947","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IGKV4-1",28908,"BI","GRCh38","chr2",88885975,88885975,"+","Missense_Mutation","SNP","A","A","G","rs140954172",null,"TCGA-CD-8531","TCGA-CD-8531-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"7d3f6a86-acc9-489a-a234-2e8d9eaab714","043a9106-b708-4e9b-ac15-2f2e05619468","c.185A>G","p.Tyr62Cys","p.Y62C","ENST00000390243","2024-02-02",24,8,16,103,null,null,"IGKV4-1,missense_variant,p.Y62C,ENST00000390243,,c.185A>G,MODERATE,YES,deleterious(0.02),benign(0.209),1","G","ENSG00000211598","ENST00000390243","Transcript","missense_variant","missense_variant","360/538","185/363","62/121","Y/C","tAc/tGc","rs140954172",null,1,"IGKV4-1","HGNC","HGNC:5834","IG_V_gene","YES",null,"ENSP00000374778","P06312.151",null,"UPI0000113B70",{"$nulls":3},"P1","cds_end_NF","deleterious(0.02)","benign(0.209)","2024-02-02",null,"PDB-ENSP_mappings:1eeq.A;PDB-ENSP_mappings:1eeq.B;PDB-ENSP_mappings:1eeu.A;PDB-ENSP_mappings:1eeu.B;PDB-ENSP_mappings:1efq.A;PDB-ENSP_mappings:1ek3.A;PDB-ENSP_mappings:1ek3.B;PDB-ENSP_mappings:1lve.A;PDB-ENSP_mappings:1qac.A;PDB-ENSP_mappings:1qac.B;PDB-ENSP_mappings:2lve.A;PDB-ENSP_mappings:3lve.A;PDB-ENSP_mappings:4lve.A;PDB-ENSP_mappings:4lve.B;PDB-ENSP_mappings:5lve.A",{"$nulls":8},"1.226e-05","6.557e-05",0,1.019E-4,0,0,"9.135e-06",0,0,1.019E-4,"gnomAD_ASJ","4.210169936413877e-05","5.050509935244918e-05",0,"7.29926978237927e-05",0,0.000252269994234666,0,0,"1.5592799172736704e-05",0,0.000236295003560371,"5.050509935244918e-05","afr",{"$nulls":9},"MODERATE",1,"SNV",{"$nulls":4},"TTGGTACCAGC","be6ba6a7-bfcb-4e30-ad16-eb58c53a146b","2a17be8a-b4df-4a1d-ae9c-ef410223a9df","efe8b105-b170-4679-8b97-c1142fefe069",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LINGO4",339398,"BI","GRCh38","chr1",151801211,151801211,"+","Nonsense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8081","TCGA-BR-8081-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"837ee400-9797-4e3f-a7f7-146ad1bde639","71909f3a-4187-4dca-8a94-f4fe08189521","c.1494G>A","p.Trp498Ter","p.W498*","ENST00000368820","2024-02-02",198,167,30,433,null,null,"LINGO4,stop_gained,p.W498*,ENST00000368820,NM_001004432.4,c.1494G>A,HIGH,YES,,,-1;RORC,downstream_gene_variant,,ENST00000318247,NM_005060.4,,MODIFIER,YES,,,-1;RORC,downstream_gene_variant,,ENST00000356728,NM_001001523.2,,MODIFIER,,,,-1;RORC,downstream_gene_variant,,ENST00000651814,,,MODIFIER,,,,-1;RORC,downstream_gene_variant,,ENST00000651893,,,MODIFIER,,,,-1;AL589765.6,downstream_gene_variant,,ENST00000601909,,,MODIFIER,YES,,,1","T","ENSG00000213171","ENST00000368820","Transcript","stop_gained","stop_gained","1697/2644","1494/1782","498/593","W/*","tgG/tgA","COSV63216085",null,-1,"LINGO4","HGNC","HGNC:31814","protein_coding","YES","CCDS30855.1","ENSP00000357810","Q6UY18.139",null,"UPI000019993B",null,"NM_001004432.4","NM_001004432.4","P1",{"$nulls":3},"2024-02-02",null,"Gene3D:2.60.40.10;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR24373;PANTHER:PTHR24373:SF156;SMART:SM00409;Superfamily:SSF48726",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"TCCAGCCAGGT","55dfb712-22c5-4c3d-97f3-a7c058713b49","547a4523-025e-48d8-bfd9-5057ea36a2ba","1d3a03a5-b757-4617-b65a-50f429a0e026",null,"COSM4022288","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF76",7629,"BI","GRCh38","chr6",35291635,35291635,"+","Missense_Mutation","SNP","C","C","T","rs748068461",null,"TCGA-BR-8081","TCGA-BR-8081-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"837ee400-9797-4e3f-a7f7-146ad1bde639","71909f3a-4187-4dca-8a94-f4fe08189521","c.829C>T","p.Arg277Cys","p.R277C","ENST00000373953","2024-09-14",64,52,12,160,null,null,"ZNF76,missense_variant,p.R277C,ENST00000373953,NM_003427.5,c.829C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;ZNF76,missense_variant,p.R277C,ENST00000339411,NM_001292032.2,c.829C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;ZNF76,missense_variant,p.R277C,ENST00000469195,,c.829C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;ZNF76,upstream_gene_variant,,ENST00000498555,,,MODIFIER,,,,1;ZNF76,3_prime_UTR_variant,,ENST00000229405,,c.*947C>T,MODIFIER,,,,1;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,,n.1155C>T,MODIFIER,,,,1;ZNF76,downstream_gene_variant,,ENST00000460229,,,MODIFIER,,,,1;ZNF76,upstream_gene_variant,,ENST00000479226,,,MODIFIER,,,,1;ZNF76,downstream_gene_variant,,ENST00000484932,,,MODIFIER,,,,1;ZNF76,downstream_gene_variant,,ENST00000491400,,,MODIFIER,,,,1","T","ENSG00000065029","ENST00000373953","Transcript","missense_variant","missense_variant","1032/2653","829/1713","277/570","R/C","Cgc/Tgc","rs748068461;COSV57592517",null,1,"ZNF76","HGNC","HGNC:13149","protein_coding","YES","CCDS4801.1","ENSP00000363064","P36508.186","A0A024RCU3.49","UPI000013C41C","P36508-1","NM_003427.5","NM_003427.5","P2",null,"deleterious(0)","probably_damaging(0.999)","2024-09-14",null,"Gene3D:3.30.160.60;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24388;PANTHER:PTHR24388:SF63;SMART:SM00355;Superfamily:SSF57667",{"$nulls":8},"7.957e-06",0,0,0,0,0,"1.759e-05",0,0,"1.759e-05","gnomAD_NFE","1.3522299923351966e-05",0,0,0,0,0,0,0,"3.086420110776089e-05",0,0,"3.086420110776089e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"ATGTGCGCACC","55dfb712-22c5-4c3d-97f3-a7c058713b49","547a4523-025e-48d8-bfd9-5057ea36a2ba","1d3a03a5-b757-4617-b65a-50f429a0e026",null,"COSM173420","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UBAC2",337867,"BI","GRCh38","chr13",99314128,99314128,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-BR-8081","TCGA-BR-8081-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"837ee400-9797-4e3f-a7f7-146ad1bde639","71909f3a-4187-4dca-8a94-f4fe08189521","c.424del","p.Tyr142ThrfsTer23","p.Y142Tfs*23","ENST00000403766","2024-05-09",124,110,14,206,null,null,"UBAC2,frameshift_variant,p.Y107Tfs*23,ENST00000376440,NM_177967.4,c.319del,HIGH,,,,1;UBAC2,frameshift_variant,p.Y142Tfs*23,ENST00000403766,NM_001144072.2,c.424del,HIGH,YES,,,1;UBAC2,intron_variant,,ENST00000355700,,c.160-26189del,MODIFIER,,,,1;UBAC2,non_coding_transcript_exon_variant,,ENST00000460562,,n.640del,MODIFIER,,,,1;UBAC2,non_coding_transcript_exon_variant,,ENST00000494576,,n.145del,MODIFIER,,,,1;UBAC2,non_coding_transcript_exon_variant,,ENST00000468067,,n.585del,MODIFIER,,,,1;UBAC2,non_coding_transcript_exon_variant,,ENST00000473194,,n.191del,MODIFIER,,,,1;UBAC2,non_coding_transcript_exon_variant,,ENST00000473091,,n.521del,MODIFIER,,,,1;UBAC2,upstream_gene_variant,,ENST00000480738,,,MODIFIER,,,,1","-","ENSG00000134882","ENST00000403766","Transcript","frameshift_variant","frameshift_variant","476/2259","421/1035","141/344","F/X","Ttt/tt",null,null,1,"UBAC2","HGNC","HGNC:20486","protein_coding","YES","CCDS45064.1","ENSP00000383911","Q8NBM4.149","A0A024RE02.45","UPI000003B0B4","Q8NBM4-1","NM_001144072.2","NM_001144072.2","P1",{"$nulls":3},"2024-05-09",null,"Superfamily:SSF144091;Transmembrane_helices:TMhelix",{"$nulls":41},"HIGH",1,"deletion",2,3,null,1,"GTACCATTTTAC","55dfb712-22c5-4c3d-97f3-a7c058713b49","547a4523-025e-48d8-bfd9-5057ea36a2ba","1d3a03a5-b757-4617-b65a-50f429a0e026",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["MBP",4155,"BI","GRCh38","chr18",77017263,77017263,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8081","TCGA-BR-8081-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"837ee400-9797-4e3f-a7f7-146ad1bde639","71909f3a-4187-4dca-8a94-f4fe08189521","c.145G>A","p.Ala49Thr","p.A49T","ENST00000355994","2024-04-09",42,38,4,96,null,null,"MBP,missense_variant,p.A49T,ENST00000397860,NM_001025100.2,c.145G>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.267),-1;MBP,missense_variant,p.A49T,ENST00000397863,,c.145G>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.267),-1;MBP,missense_variant,p.A49T,ENST00000355994,NM_001025101.2,c.145G>A,MODERATE,YES,deleterious_low_confidence(0.02),benign(0.089),-1;MBP,missense_variant,p.A49T,ENST00000579129,,c.145G>A,MODERATE,,deleterious_low_confidence(0.02),probably_damaging(0.92),-1;MBP,missense_variant,p.A49T,ENST00000580402,,c.145G>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.089),-1;MBP,missense_variant,p.A49T,ENST00000581878,,c.145G>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.089),-1;MBP,5_prime_UTR_variant,,ENST00000498683,,c.-255G>A,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000354542,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000359645,NM_002385.3,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000382582,NM_001025081.2,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397865,NM_001025092.2,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397866,NM_001025090.2,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397869,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397875,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000526111,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000527041,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000528160,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000578193,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000578873,,,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000487778,,n.629G>A,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000497479,,n.745G>A,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000495162,,n.400G>A,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000490754,,n.338G>A,MODIFIER,,,,-1;MBP,intron_variant,,ENST00000580473,,n.326-27203G>A,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000581179,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000582282,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000583266,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000585216,,,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000673800,,n.121G>A,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397868,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000459948,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000467108,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000473302,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000482445,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000483025,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000484548,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000493623,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000527975,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000531144,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000533278,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000577755,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000583474,,,MODIFIER,,,,-1","T","ENSG00000197971","ENST00000355994","Transcript","missense_variant","missense_variant","374/2738","145/915","49/304","A/T","Gca/Aca","COSV62829444",null,-1,"MBP","HGNC","HGNC:6925","protein_coding","YES",null,"ENSP00000348273","P02686.223","A0A024R384.47","UPI000012ED3C","P02686-1","NM_001025101.2","NM_001025101.2","P3",null,"deleterious_low_confidence(0.02)","benign(0.089)","2024-04-09",null,"PANTHER:PTHR11429;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"ATCTGCCTCTC","55dfb712-22c5-4c3d-97f3-a7c058713b49","547a4523-025e-48d8-bfd9-5057ea36a2ba","1d3a03a5-b757-4617-b65a-50f429a0e026",null,"COSM4073399","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TTN",7273,"BI","GRCh38","chr2",178536054,178536054,"+","Missense_Mutation","SNP","C","C","T","rs373484505",null,"TCGA-CD-A48A","TCGA-CD-A48A-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"c2f0820b-e38e-48ce-a676-f2cf70c06101","f7e6028e-6fd8-43b1-b881-d923a937ed6c","c.95770G>A","p.Ala31924Thr","p.A31924T","ENST00000591111","307/313",99,61,38,57,null,null,"TTN,missense_variant,p.A33565T,ENST00000589042,NM_001267550.2,c.100693G>A,MODERATE,YES,,benign(0.271),-1;TTN,missense_variant,p.A31924T,ENST00000591111,,c.95770G>A,MODERATE,,,benign(0.271),-1;TTN,missense_variant,p.A30997T,ENST00000342992,NM_133378.4&NM_001256850.1,c.92989G>A,MODERATE,,,benign(0.139),-1;TTN,missense_variant,p.A24500T,ENST00000460472,NM_003319.4,c.73498G>A,MODERATE,,,benign(0.391),-1;TTN,missense_variant,p.A24692T,ENST00000342175,NM_133437.4,c.74074G>A,MODERATE,,,,-1;TTN,missense_variant,p.A24625T,ENST00000359218,NM_133432.3,c.73873G>A,MODERATE,,,benign(0.391),-1;TTN-AS1,intron_variant,,ENST00000419746,,n.316+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000431259,,n.922+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000450692,,n.171+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.413+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585358,,n.223+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585487,,n.357+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.74+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.345+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.75-6168C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588244,,n.436+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588257,,n.436+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588716,,n.223+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000588804,,n.532+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589391,,n.436+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589434,,n.423-1550C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000589842,,n.436+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590040,,n.346-6168C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.509+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.74+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.442+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591466,,n.171+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591867,,n.171+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592182,,n.588+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.345+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.346-1550C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.171+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.345+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592836,,n.171+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000620591,,n.436+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.49+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.74+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.49+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.74+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.49+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.551+7241C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.219+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.118+12418C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657210,,n.832+226C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.416+12418C>T,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000664161,,n.521+226C>T,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000415561,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000438095,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000442329,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000585625,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000587568,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000587944,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589355,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000604571,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000614124,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000625536,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000627564,,,MODIFIER,,,,1","T","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","95995/104301","95770/103053","31924/34350","A/T","Gcc/Acc","rs373484505;COSV60101350",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.271)","307/313",null,"PDB-ENSP_mappings:2ill.A;PDB-ENSP_mappings:2j8h.A;PDB-ENSP_mappings:2j8o.A;PDB-ENSP_mappings:2j8o.B;PDB-ENSP_mappings:2nzi.A;PDB-ENSP_mappings:2nzi.B;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726;CDD:cd00096",{"$nulls":19},"6.762149951100582e-06",0,0,0,0,2.01775997993536E-4,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",5,null,"1;1",1,"TGTGGCATCAT","26f47626-1ffd-4015-bc02-9bda96c093b8","f3b4c43a-5ece-4fd0-addb-4a0e0589e40a","a6635058-4498-463c-9bbc-1009dda3308c",null,"COSM4087294;COSM4087295;COSM4087296;COSM4087297","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAPPA2",60676,"BI","GRCh38","chr1",176793588,176793588,"+","Frame_Shift_Del","DEL","C","C","-","rs747970462",null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.5055del","p.Ser1686ValfsTer4","p.S1686Vfs*4","ENST00000367662","20/23",179,151,28,143,null,null,"PAPPA2,frameshift_variant,p.S1686Vfs*4,ENST00000367662,NM_020318.3,c.5055del,HIGH,YES,,,1;PAPPA2,non_coding_transcript_exon_variant,,ENST00000479836,,n.73del,MODIFIER,,,,1","-","ENSG00000116183","ENST00000367662","Transcript","frameshift_variant","frameshift_variant","6209/9683","5049/5376","1683/1791","I/X","atC/at","rs747970462;COSV62809272",null,1,"PAPPA2","HGNC","HGNC:14615","protein_coding","YES","CCDS41438.1","ENSP00000356634","Q9BXP8.166",null,"UPI000004A835","Q9BXP8-1","NM_020318.3","NM_020318.3","P1",{"$nulls":3},"20/23",null,"PANTHER:PTHR46130;PANTHER:PTHR46130:SF1",{"$nulls":8},"8.065e-06",0,"2.933e-05",0,0,0,"8.869e-06",0,0,"2.933e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,6,"0;1",null,"TGTAATCCCCCC","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,"COSM2094070","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CADPS",8618,"BI","GRCh38","chr3",62533018,62533018,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.2144A>G","p.Tyr715Cys","p.Y715C","ENST00000383710","13/30",103,89,14,85,null,null,"CADPS,missense_variant,p.Y715C,ENST00000383710,NM_003716.4,c.2144A>G,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;CADPS,missense_variant,p.Y715C,ENST00000612439,,c.2144A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CADPS,missense_variant,p.Y698C,ENST00000357948,NM_183393.3,c.2093A>G,MODERATE,,deleterious(0),probably_damaging(1),-1;CADPS,missense_variant,p.Y715C,ENST00000283269,NM_183394.3,c.2144A>G,MODERATE,,deleterious(0),probably_damaging(0.995),-1;CADPS,missense_variant,p.Y22C,ENST00000491424,,c.65A>G,MODERATE,,deleterious(0),probably_damaging(0.988),-1;CADPS,missense_variant,p.Y60C,ENST00000468271,,c.179A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CADPS,downstream_gene_variant,,ENST00000542833,,,MODIFIER,,,,-1;CADPS,non_coding_transcript_exon_variant,,ENST00000478434,,n.436A>G,MODIFIER,,,,-1;CADPS,downstream_gene_variant,,ENST00000490424,,,MODIFIER,,,,-1","C","ENSG00000163618","ENST00000383710","Transcript","missense_variant","missense_variant","2531/5507","2144/4062","715/1353","Y/C","tAt/tGt","COSV51898604",null,-1,"CADPS","HGNC","HGNC:1426","protein_coding","YES","CCDS46858.1","ENSP00000373215","Q9ULU8.162",null,"UPI00001C036A","Q9ULU8-1","NM_003716.4","NM_003716.4","P2",null,"deleterious(0)","probably_damaging(0.996)","13/30",null,"PANTHER:PTHR12166;PANTHER:PTHR12166:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CGCAATACTCG","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,"COSM4119745;COSM4119746","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MLLT10",8028,"BI","GRCh38","chr10",21673854,21673856,"+","In_Frame_Del","DEL","CTC","CTC","-","rs759995798",null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.1558_1560del","p.Pro520del","p.P520del","ENST00000307729","2024-11-23",72,59,13,83,null,null,"MLLT10,inframe_deletion,p.P520del,ENST00000307729,NM_001195626.3,c.1558_1560del,MODERATE,YES,,,1;MLLT10,inframe_deletion,p.P520del,ENST00000377072,NM_004641.3,c.1558_1560del,MODERATE,,,,1;MLLT10,inframe_deletion,p.P520del,ENST00000631589,,c.1558_1560del,MODERATE,,,,1;MLLT10,inframe_deletion,p.P520del,ENST00000377059,,c.1558_1560del,MODERATE,,,,1;MLLT10,inframe_deletion,p.P215del,ENST00000438473,NM_001324297.1,c.642_644del,MODERATE,,,,1;MLLT10,inframe_deletion,p.P94del,ENST00000420525,,c.279_281del,MODERATE,,,,1;MLLT10,downstream_gene_variant,,ENST00000468309,,,MODIFIER,,,,1;MLLT10,downstream_gene_variant,,ENST00000650921,,,MODIFIER,,,,1;MLLT10,downstream_gene_variant,,ENST00000651405,,,MODIFIER,,,,1;MLLT10,3_prime_UTR_variant,,ENST00000650893,,c.*1577_*1579del,MODIFIER,,,,1;MLLT10,3_prime_UTR_variant,,ENST00000651298,,c.*1441_*1443del,MODIFIER,,,,1;MLLT10,non_coding_transcript_exon_variant,,ENST00000651382,,n.2470_2472del,MODIFIER,,,,1;MLLT10,downstream_gene_variant,,ENST00000652258,,,MODIFIER,,,,1","-","ENSG00000078403","ENST00000307729","Transcript","inframe_deletion","inframe_deletion","1845-1847/5143","1556-1558/3207","519-520/1068","SP/S","tCTCct/tct","rs759995798",null,1,"MLLT10","HGNC","HGNC:16063","protein_coding","YES","CCDS55708.1","ENSP00000307411","P55197.178",null,"UPI00001F8FF7","P55197-4","NM_001195626.3","NM_001195626.3","P2",{"$nulls":3},"2024-11-23",null,"PANTHER:PTHR13793;PANTHER:PTHR13793:SF93",{"$nulls":8},"7.968e-06",0,"2.895e-05",0,0,0,"8.812e-06",0,0,"2.895e-05","gnomAD_AMR",{"$nulls":22},"MODERATE",1,"deletion",1,2,null,1,"AGAAATCTCCTACA","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["OR4C15",81309,"BI","GRCh38","chr11",55554811,55554811,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.505A>G","p.Thr169Ala","p.T169A","ENST00000314644","2024-01-01",108,95,13,122,null,null,"OR4C15,missense_variant,p.T169A,ENST00000314644,,c.505A>G,MODERATE,YES,tolerated_low_confidence(0.07),possibly_damaging(0.452),1;OR4C15,missense_variant,p.T115A,ENST00000642128,NM_001001920.2,c.343A>G,MODERATE,,tolerated_low_confidence(0.08),benign(0.011),1","G","ENSG00000181939","ENST00000314644","Transcript","missense_variant","missense_variant","505/1113","505/1113","169/370","T/A","Aca/Gca","COSV58955103",null,1,"OR4C15","HGNC","HGNC:15171","protein_coding","YES","CCDS31501.1","ENSP00000324958",null,"A0A2C9F2M4.16","UPI00003B288E",{"$nulls":3},"A2",null,"tolerated_low_confidence(0.07)","possibly_damaging(0.452)","2024-01-01",null,"Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15939;PANTHER:PTHR26451:SF14;PANTHER:PTHR26451;PROSITE_patterns:PS00237;Pfam:PF13853;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"TCCTCACAGCC","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,"COSM4033615","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAMSTR",284358,"BI","GRCh38","chr19",48714849,48714849,"+","Frame_Shift_Del","DEL","G","G","-","rs752869239",null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.485del","p.Pro162HisfsTer14","p.P162Hfs*14","ENST00000318083","2024-06-10",111,90,21,111,null,null,"MAMSTR,frameshift_variant,p.P162Hfs*14,ENST00000318083,NM_001130915.2,c.485del,HIGH,YES,,,-1;MAMSTR,frameshift_variant,p.P59Hfs*14,ENST00000356751,NM_182574.2,c.176del,HIGH,,,,-1;MAMSTR,frameshift_variant,p.P59Hfs*14,ENST00000594582,NM_001297753.1,c.176del,HIGH,,,,-1;MAMSTR,frameshift_variant,p.P212Hfs*?,ENST00000599703,,c.635del,HIGH,,,,-1;MAMSTR,downstream_gene_variant,,ENST00000595591,,,MODIFIER,,,,-1","-","ENSG00000176909","ENST00000318083","Transcript","frameshift_variant","frameshift_variant","553/1858","485/1248","162/415","P/X","cCa/ca","rs752869239",null,-1,"MAMSTR","HGNC","HGNC:26689","protein_coding","YES","CCDS46137.1","ENSP00000324175","Q6ZN01.120",null,"UPI000035E7CB","Q6ZN01-1","NM_001130915.2","NM_001130915.2","A2",{"$nulls":3},"2024-06-10",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR23251;PANTHER:PTHR23251:SF1;Gene3D:1.10.720.30",{"$nulls":8},"2.037e-05",0,0,0,"5.83e-05",0,"2.69e-05",0,"3.32e-05","5.83e-05","gnomAD_EAS","7.097029993019532e-06","2.6321300538256764e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",2,{"$nulls":3},"TTGTGTGGGGGG","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,"COSM1395098;COSM1395099","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["GNAS",2778,"BI","GRCh38","chr20",58855003,58855003,"+","Missense_Mutation","SNP","G","G","A","rs1358580640",null,"TCGA-HF-7132","TCGA-HF-7132-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"e024a76a-01c8-4d44-8569-f4459a61ab9f","e18c9bee-e86d-4260-a286-c74e82550ad3","c.1738G>A","p.Glu580Lys","p.E580K","ENST00000371100","2024-01-13",22,16,5,18,null,null,"GNAS,missense_variant,p.E580K,ENST00000371100,NM_080425.3,c.1738G>A,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.003),1;GNAS,missense_variant,p.E580K,ENST00000371099,,c.1738G>A,MODERATE,,deleterious(0.02),benign(0.009),1;GNAS,missense_variant,p.E580K,ENST00000371102,,c.1738G>A,MODERATE,,deleterious_low_confidence(0.01),benign(0.009),1;GNAS,missense_variant,p.E580K,ENST00000423897,,c.1738G>A,MODERATE,,deleterious(0.02),probably_damaging(0.973),1;GNAS,missense_variant,p.E580K,ENST00000676826,,c.1738G>A,MODERATE,,deleterious(0.01),probably_damaging(0.924),1;GNAS,missense_variant,p.E580K,ENST00000349036,,c.1738G>A,MODERATE,,deleterious(0.01),probably_damaging(0.924),1;GNAS,synonymous_variant,p.T581=,ENST00000306120,NM_001077490.2&NM_001309883.1,c.1743G>A,LOW,,,,1;GNAS,intron_variant,,ENST00000306090,,c.43+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000313949,NM_001309861.2,c.*42+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000371075,NM_016592.4,c.*42+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000371098,,c.*42+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000419558,,c.*42+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000453292,,c.*42+14117G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000462499,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000467227,,c.-39+10929G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000472183,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000482112,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000491348,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000493744,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000657090,,c.-39+15063G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000663479,,c.-39+13128G>A,MODIFIER,,,,1;GNAS,intron_variant,,ENST00000667293,,c.10+14117G>A,MODIFIER,,,,1;AL132655.5,downstream_gene_variant,,ENST00000614281,,,MODIFIER,YES,,,1;AL132655.4,downstream_gene_variant,,ENST00000616546,,,MODIFIER,YES,,,1;GNAS,intron_variant,,ENST00000490374,,n.222+13128G>A,MODIFIER,,,,1;GNAS,missense_variant,p.E580K,ENST00000464624,,c.1738G>A,MODERATE,,deleterious(0.02),probably_damaging(0.973),1;GNAS,missense_variant,p.E580K,ENST00000481768,,c.1738G>A,MODERATE,,deleterious(0.02),probably_damaging(0.992),1;GNAS-AS1,upstream_gene_variant,,ENST00000424094,,,MODIFIER,,,,-1;GNAS-AS1,upstream_gene_variant,,ENST00000598163,,,MODIFIER,,,,-1","A","ENSG00000087460","ENST00000371100","Transcript","missense_variant","missense_variant","2290/4029","1738/3114","580/1037","E/K","Gag/Aag","rs1358580640;COSV58329649",null,1,"GNAS","HGNC","HGNC:4392","protein_coding","YES","CCDS46622.1","ENSP00000360141","Q5JWF2.157",null,"UPI0000E444AE","Q5JWF2-1","NM_080425.3",{"$nulls":3},"deleterious_low_confidence(0.01)","benign(0.003)","2024-01-13",null,"PANTHER:PTHR10218;PANTHER:PTHR10218:SF320;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"4.085e-06",0,0,0,0,0,"9.098e-06",0,0,"9.098e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"GAGACGAGTCC","90b7fe88-1c11-4103-b940-6e26ea45f1fa","375ef020-4c30-46a2-bf91-6c6ee6d3bdea","6c3687fd-0761-477d-95ab-73e11d66dbd6",null,"COSM4099807","N","Unknown",{"$nulls":3},"muse;mutect2"]
["P2RY12",64805,"BI","GRCh38","chr3",151338502,151338502,"+","Missense_Mutation","SNP","A","A","G","rs1374555502",null,"TCGA-CG-4305","TCGA-CG-4305-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"e33b1465-3e69-4cd5-b490-45852d5763ed","092ef146-44f8-430f-96ae-0a9a8ef08773","c.344T>C","p.Leu115Pro","p.L115P","ENST00000302632","2024-03-03",192,137,54,134,null,null,"P2RY12,missense_variant,p.L115P,ENST00000302632,NM_022788.5&NM_176876.3,c.344T>C,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;MED12L,intron_variant,,ENST00000273432,,c.1726-11557A>G,MODIFIER,,,,1;MED12L,intron_variant,,ENST00000474524,NM_053002.5,c.2146-11557A>G,MODIFIER,YES,,,1;MED12L,downstream_gene_variant,,ENST00000480026,,,MODIFIER,,,,1;MED12L,intron_variant,,ENST00000468305,,n.328-11557A>G,MODIFIER,,,,1;MED12L,intron_variant,,ENST00000491549,,n.74-11557A>G,MODIFIER,,,,1;P2RY12,non_coding_transcript_exon_variant,,ENST00000468596,,n.616T>C,MODIFIER,,,,-1","G","ENSG00000169313","ENST00000302632","Transcript","missense_variant","missense_variant","585/2244","344/1029","115/342","L/P","cTg/cCg","rs1374555502;COSV56375884",null,-1,"P2RY12","HGNC","HGNC:18124","protein_coding","YES","CCDS3159.1","ENSP00000307259","Q9H244.170",null,"UPI0000001662",null,"NM_022788.5;NM_176876.3","NM_022788.5","P1",null,"deleterious(0)","probably_damaging(0.997)","2024-03-03",null,"PDB-ENSP_mappings:4ntj.A;PDB-ENSP_mappings:4pxz.A;PDB-ENSP_mappings:4py0.A;Transmembrane_helices:TMhelix;PROSITE_profiles:PS50262;CDD:cd15150;PANTHER:PTHR24233;PANTHER:PTHR24233:SF0;Pfam:PF00001;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237",{"$nulls":19},"6.764979843865149e-06",0,0,0,0,0,0,0,"1.5434499800903723e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GTCCCAGGAAT","276c30ae-29c4-475d-81f7-b488c083d439","0f841e4d-cdb7-400e-8339-b0b798cecefa","e0e35051-fbb4-4389-aedb-87bde84d21ad",null,"COSM4114467","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["YTHDC2",64848,"BI","GRCh38","chr5",113567187,113567187,"+","Missense_Mutation","SNP","T","T","C","rs1173433390",null,"TCGA-CG-4305","TCGA-CG-4305-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"e33b1465-3e69-4cd5-b490-45852d5763ed","092ef146-44f8-430f-96ae-0a9a8ef08773","c.2938T>C","p.Tyr980His","p.Y980H","ENST00000161863","22/30",73,62,11,73,null,null,"YTHDC2,missense_variant,p.Y980H,ENST00000161863,NM_022828.5&NM_001345975.2&NM_001345976.2,c.2938T>C,MODERATE,YES,deleterious(0.04),probably_damaging(0.997),1;YTHDC2,non_coding_transcript_exon_variant,,ENST00000506333,,n.397T>C,MODIFIER,,,,1","C","ENSG00000047188","ENST00000161863","Transcript","missense_variant","missense_variant","3140/6305","2938/4293","980/1430","Y/H","Tat/Cat","rs1173433390;COSV50739334",null,1,"YTHDC2","HGNC","HGNC:24721","protein_coding","YES","CCDS4113.1","ENSP00000161863","Q9H6S0.146",null,"UPI0000367311",null,"NM_022828.5;NM_001345975.2;NM_001345976.2","NM_022828.5","P1",null,"deleterious(0.04)","probably_damaging(0.997)","22/30",null,"PANTHER:PTHR18934;PANTHER:PTHR18934:SF100;Pfam:PF07717",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GCATGTATCCT","276c30ae-29c4-475d-81f7-b488c083d439","0f841e4d-cdb7-400e-8339-b0b798cecefa","e0e35051-fbb4-4389-aedb-87bde84d21ad",null,"COSM4127182","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MFRP",83552,"BI","GRCh38","chr11",119342978,119342978,"+","Frame_Shift_Del","DEL","G","G","-","rs587776595",null,"TCGA-CG-4305","TCGA-CG-4305-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"e33b1465-3e69-4cd5-b490-45852d5763ed","092ef146-44f8-430f-96ae-0a9a8ef08773","c.3del","p.His2ThrfsTer100","p.H2Tfs*100","ENST00000449574","2024-01-04",20,16,4,20,null,null,"MFRP,frameshift_variant,p.H384Tfs*94,ENST00000619721,NM_031433.4,c.1150del,HIGH,YES,,,-1;MFRP,frameshift_variant,p.T309Pfs*7,ENST00000360167,,c.924del,HIGH,,,,-1;MFRP,frameshift_variant,p.H2Tfs*100,ENST00000449574,,c.3del,HIGH,,,,-1;C1QTNF5,upstream_gene_variant,,ENST00000528368,NM_015645.5&NM_001278431.2,,MODIFIER,YES,,,-1;C1QTNF5,upstream_gene_variant,,ENST00000530681,,,MODIFIER,,,,-1;C1QTNF5,upstream_gene_variant,,ENST00000634633,,,MODIFIER,,,,-1;C1QTNF5,upstream_gene_variant,,ENST00000525657,,,MODIFIER,,,,-1;MFRP,downstream_gene_variant,,ENST00000526059,,,MODIFIER,,,,-1;MFRP,downstream_gene_variant,,ENST00000529147,,,MODIFIER,,,,-1;MFRP,downstream_gene_variant,,ENST00000634542,,,MODIFIER,,,,-1","-","ENSG00000235718","ENST00000449574","Transcript","frameshift_variant","frameshift_variant","3/565","4/566","2/188","H/X","Cac/ac","rs587776595",null,-1,"MFRP","HGNC","HGNC:18121","protein_coding",null,null,"ENSP00000391664",null,"A0A0X1KG76.25","UPI000719A1DB",{"$nulls":4},"cds_start_NF;cds_end_NF",null,null,"2024-01-04",null,"PANTHER:PTHR45645;PANTHER:PTHR45645:SF20",{"$nulls":8},"2.128e-05","6.647e-05",0,0,0,0,"2.878e-05",0,"3.406e-05","6.647e-05","gnomAD_AFR","6.7659898377314676e-06",0,0,0,0,0,0,0,"1.5442599760717712e-05",0,0,null,null,"pathogenic",null,1258954,{"$nulls":6},"HIGH",null,"deletion",5,null,1,1,"CGAGGTGGGGGG","276c30ae-29c4-475d-81f7-b488c083d439","0f841e4d-cdb7-400e-8339-b0b798cecefa","e0e35051-fbb4-4389-aedb-87bde84d21ad",null,"COSM1180748","N","Unknown",{"$nulls":3},"mutect2;pindel"]
["ZNF219",51222,"BI","GRCh38","chr14",21091497,21091497,"+","Missense_Mutation","SNP","C","C","T","rs747863492",null,"TCGA-CG-4305","TCGA-CG-4305-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"e33b1465-3e69-4cd5-b490-45852d5763ed","092ef146-44f8-430f-96ae-0a9a8ef08773","c.1478G>A","p.Arg493Gln","p.R493Q","ENST00000360947","2024-04-05",150,119,30,158,null,null,"ZNF219,missense_variant,p.R493Q,ENST00000360947,NM_016423.3,c.1478G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.878),-1;ZNF219,missense_variant,p.R493Q,ENST00000451119,NM_001102454.1,c.1478G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.878),-1;ZNF219,missense_variant,p.R493Q,ENST00000421093,NM_001101672.2,c.1478G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.878),-1;ARHGEF40,downstream_gene_variant,,ENST00000298694,NM_001278529.2&NM_018071.5&NM_001278530.2,,MODIFIER,YES,,,1;ZNF219,downstream_gene_variant,,ENST00000553296,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000553980,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000554478,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000554923,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000555270,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000555697,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000556174,,,MODIFIER,,,,-1;ZNF219,downstream_gene_variant,,ENST00000556101,,,MODIFIER,,,,-1;ARHGEF40,downstream_gene_variant,,ENST00000553709,,,MODIFIER,,,,1;ARHGEF40,downstream_gene_variant,,ENST00000554514,,,MODIFIER,,,,1;ARHGEF40,downstream_gene_variant,,ENST00000555232,,,MODIFIER,,,,1;ARHGEF40,downstream_gene_variant,,ENST00000556399,,,MODIFIER,,,,1;ZNF219,downstream_gene_variant,,ENST00000556944,,,MODIFIER,,,,-1;ARHGEF40,downstream_gene_variant,,ENST00000557498,,,MODIFIER,,,,1","T","ENSG00000165804","ENST00000360947","Transcript","missense_variant","missense_variant","1905/3055","1478/2169","493/722","R/Q","cGg/cAg","rs747863492;COSV53879639;COSV53882417",null,-1,"ZNF219","HGNC","HGNC:13011","protein_coding","YES","CCDS9568.1","ENSP00000354206","Q9P2Y4.177",null,"UPI000013E507",null,"NM_016423.3","NM_016423.3","P1",null,"deleterious(0.02)","possibly_damaging(0.878)","2024-04-05",null,"PANTHER:PTHR45925;PANTHER:PTHR45925:SF1",{"$nulls":8},"7.987e-06",0,0,0,0,0,"1.769e-05",0,0,"1.769e-05","gnomAD_NFE","6.761779786756961e-06",0,0,0,0,0,0,0,"1.5435400200658478e-05",0,0,{"$nulls":3},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"CGCCCCGGCCC","276c30ae-29c4-475d-81f7-b488c083d439","0f841e4d-cdb7-400e-8339-b0b798cecefa","e0e35051-fbb4-4389-aedb-87bde84d21ad",null,"COSM4049792","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYH9",4627,"BI","GRCh38","chr22",36286825,36286825,"+","Missense_Mutation","SNP","G","G","A","rs1247989971",null,"TCGA-CG-4305","TCGA-CG-4305-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"e33b1465-3e69-4cd5-b490-45852d5763ed","092ef146-44f8-430f-96ae-0a9a8ef08773","c.4954C>T","p.Arg1652Cys","p.R1652C","ENST00000216181","35/41",186,148,38,198,null,null,"MYH9,missense_variant,p.R1652C,ENST00000216181,NM_002473.6,c.4954C>T,MODERATE,YES,deleterious(0),probably_damaging(0.967),-1;MIR6819,downstream_gene_variant,,ENST00000622122,,,MODIFIER,YES,,,-1;MYH9,upstream_gene_variant,,ENST00000475726,,,MODIFIER,,,,-1;MYH9,upstream_gene_variant,,ENST00000486218,,,MODIFIER,,,,-1","A","ENSG00000100345","ENST00000216181","Transcript","missense_variant","missense_variant","5134/7451","4954/5883","1652/1960","R/C","Cgc/Tgc","rs1247989971;COSV53385023",null,-1,"MYH9","HGNC","HGNC:7579","protein_coding","YES","CCDS13927.1","ENSP00000216181","P35579.234","A0A024R1N1.51","UPI000012FB80","P35579-1","NM_002473.6","NM_002473.6","P1",null,"deleterious(0)","probably_damaging(0.967)","35/41",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF01576;PANTHER:PTHR45615;PANTHER:PTHR45615:SF16",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CTCGCGCATGC","276c30ae-29c4-475d-81f7-b488c083d439","0f841e4d-cdb7-400e-8339-b0b798cecefa","e0e35051-fbb4-4389-aedb-87bde84d21ad",null,"COSM4103816","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RAP1GAP",5909,"BI","GRCh38","chr1",21611568,21611568,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.727C>A","p.Leu243Met","p.L243M","ENST00000374765","13/25",67,50,17,81,null,null,"RAP1GAP,missense_variant,p.L243M,ENST00000290101,,c.727C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;RAP1GAP,missense_variant,p.L243M,ENST00000542643,NM_001145657.3&NM_001350525.2&NM_001350526.2,c.727C>A,MODERATE,,deleterious(0),probably_damaging(0.978),-1;RAP1GAP,missense_variant,p.L243M,ENST00000374763,NM_001330383.3&NM_001350524.2,c.727C>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;RAP1GAP,missense_variant,p.L274M,ENST00000374761,,c.820C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;RAP1GAP,missense_variant,p.L243M,ENST00000374765,NM_002885.4&NM_001350528.2&NM_001350527.2,c.727C>A,MODERATE,,deleterious(0),probably_damaging(0.915),-1;RAP1GAP,missense_variant,p.L307M,ENST00000495204,NM_001145658.3,c.919C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;RAP1GAP,downstream_gene_variant,,ENST00000374757,,,MODIFIER,,,,-1;RAP1GAP,missense_variant,p.L243M,ENST00000471600,,c.727C>A,MODERATE,,deleterious(0),probably_damaging(0.987),-1;RAP1GAP,non_coding_transcript_exon_variant,,ENST00000611549,,n.922C>A,MODIFIER,,,,-1","T","ENSG00000076864","ENST00000374765","Transcript","missense_variant","missense_variant","928/3271","727/1992","243/663","L/M","Ctg/Atg","COSV51569940",null,-1,"RAP1GAP","HGNC","HGNC:9858","protein_coding",null,"CCDS218.1","ENSP00000363897","P47736.172","A0A024RAB5.47","UPI000046FFB3","P47736-1","NM_002885.4;NM_001350528.2;NM_001350527.2",null,"A1",null,"deleterious(0)","probably_damaging(0.915)","13/25",null,"PDB-ENSP_mappings:1srq.A;PDB-ENSP_mappings:1srq.B;PDB-ENSP_mappings:1srq.C;PDB-ENSP_mappings:1srq.D;PDB-ENSP_mappings:3brw.A;PDB-ENSP_mappings:3brw.B;PDB-ENSP_mappings:3brw.C;PROSITE_profiles:PS50085;PANTHER:PTHR15711:SF3;PANTHER:PTHR15711;Gene3D:3.40.50.11210;Pfam:PF02145;Superfamily:SSF111347",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GTCCAGGCCTC","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4028350;COSM4028351;COSM4028352","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["H2AC21",317772,"BI","GRCh38","chr1",149887654,149887654,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.263T>C","p.Val88Ala","p.V88A","ENST00000331128","2024-01-01",124,100,24,175,null,null,"H2AC21,missense_variant,p.V88A,ENST00000331128,NM_175065.3,c.263T>C,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.934),-1;H2AC20,downstream_gene_variant,,ENST00000331380,NM_003517.3,,MODIFIER,YES,,,1;BOLA1,upstream_gene_variant,,ENST00000369153,,,MODIFIER,YES,,,1;H2BC21,upstream_gene_variant,,ENST00000369155,NM_003528.3,,MODIFIER,YES,,,-1","G","ENSG00000184270","ENST00000331128","Transcript","missense_variant","missense_variant","312/497","263/393","88/130","V/A","gTg/gCg","COSV58611490",null,-1,"H2AC21","HGNC","HGNC:20508","protein_coding","YES","CCDS938.1","ENSP00000332790","Q8IUE6.149",null,"UPI000007478E",null,"NM_175065.3","NM_175065.3","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.934)","2024-01-01",null,"CDD:cd00074;PANTHER:PTHR23430;PANTHER:PTHR23430:SF42;Pfam:PF00125;Gene3D:1.10.20.10;SMART:SM00414;Superfamily:SSF47113",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TCCTCACGGCT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4021880","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR11L1",391189,"BI","GRCh38","chr1",247841811,247841811,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.86T>C","p.Val29Ala","p.V29A","ENST00000355784","2024-01-01",47,41,6,73,null,null,"OR11L1,missense_variant,p.V29A,ENST00000355784,NM_001001959.1,c.86T>C,MODERATE,YES,tolerated(0.56),benign(0),-1","G","ENSG00000197591","ENST00000355784","Transcript","missense_variant","missense_variant","86/969","86/969","29/322","V/A","gTc/gCc","COSV63313939",null,-1,"OR11L1","HGNC","HGNC:14998","protein_coding","YES","CCDS31098.1","ENSP00000348033","Q8NGX0.139",null,"UPI0000061EBC",null,"NM_001001959.1","NM_001001959.1","P1",null,"tolerated(0.56)","benign(0)","2024-01-01",null,"Gene3D:1.20.1070.10;Prints:PR00237;PANTHER:PTHR26452;PANTHER:PTHR26452:SF701;Superfamily:SSF81321;Transmembrane_helices:TMhelix;CDD:cd13954",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,null,"AAATGACAAAG","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4030619","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZDBF2",57683,"BI","GRCh38","chr2",206307802,206307802,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.3280del","p.Ile1094Ter","p.I1094*","ENST00000374423","2024-05-05",86,72,14,97,null,null,"ZDBF2,frameshift_variant,p.I1094*,ENST00000649650,NM_001369654.1,c.3280del,HIGH,YES,,,1;ZDBF2,frameshift_variant,p.I1094*,ENST00000374423,NM_020923.3,c.3280del,HIGH,,,,1;ZDBF2,frameshift_variant,p.I1092*,ENST00000611847,NM_001285549.2,c.3274del,HIGH,,,,1;ZDBF2,frameshift_variant,p.I1094*,ENST00000649525,,c.3280del,HIGH,,,,1;ZDBF2,3_prime_UTR_variant,,ENST00000649998,,c.*760del,MODIFIER,,,,1;ZDBF2,downstream_gene_variant,,ENST00000649441,,,MODIFIER,,,,1;ZDBF2,downstream_gene_variant,,ENST00000650097,,,MODIFIER,,,,1;ZDBF2,3_prime_UTR_variant,,ENST00000649285,,c.*3005del,MODIFIER,,,,1;ZDBF2,3_prime_UTR_variant,,ENST00000648361,,c.*3176del,MODIFIER,,,,1;ZDBF2,downstream_gene_variant,,ENST00000649289,,,MODIFIER,,,,1","-","ENSG00000204186","ENST00000374423","Transcript","frameshift_variant","frameshift_variant","3660/10285","3274/7065","1092/2354","K/X","Aaa/aa",null,null,1,"ZDBF2","HGNC","HGNC:29313","protein_coding",null,"CCDS46501.1","ENSP00000363545","Q9HCK1.107","N0DVB2.45","UPI000022BDE3",null,"NM_020923.3","NM_020923.3","P4",{"$nulls":3},"2024-05-05",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR21639",{"$nulls":41},"HIGH",null,"deletion",1,6,null,null,"GCGGTTAAAAAA","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM2713788;COSM2713789","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["NMD3",51068,"BI","GRCh38","chr3",161238163,161238163,"+","Missense_Mutation","SNP","G","G","A","rs1382585189",null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.628G>A","p.Glu210Lys","p.E210K","ENST00000351193","2024-08-16",288,228,60,326,null,null,"NMD3,missense_variant,p.E210K,ENST00000460469,,c.628G>A,MODERATE,,deleterious(0),benign(0.355),1;NMD3,missense_variant,p.E210K,ENST00000351193,NM_015938.5,c.628G>A,MODERATE,,deleterious(0),benign(0.355),1;NMD3,missense_variant,p.E210K,ENST00000472947,NM_001320227.1,c.628G>A,MODERATE,YES,deleterious(0),benign(0.426),1;NMD3,missense_variant,p.E210K,ENST00000463518,,c.628G>A,MODERATE,,deleterious(0),benign(0.355),1;NMD3,missense_variant,p.E210K,ENST00000493066,,c.628G>A,MODERATE,,deleterious(0),benign(0.355),1;NMD3,downstream_gene_variant,,ENST00000460503,,,MODIFIER,,,,1;NMD3,downstream_gene_variant,,ENST00000468606,,,MODIFIER,,,,1;NMD3,downstream_gene_variant,,ENST00000476237,,,MODIFIER,,,,1;NMD3,downstream_gene_variant,,ENST00000478160,,,MODIFIER,,,,1;NMD3,downstream_gene_variant,,ENST00000473909,,,MODIFIER,,,,1","A","ENSG00000169251","ENST00000351193","Transcript","missense_variant","missense_variant","747/3028","628/1512","210/503","E/K","Gaa/Aaa","rs1382585189;COSV63618105",null,1,"NMD3","HGNC","HGNC:24250","protein_coding",null,"CCDS3194.1","ENSP00000307525","Q96D46.135",null,"UPI0000035FBE",null,"NM_015938.5","NM_015938.5","P2",null,"deleterious(0)","benign(0.355)","2024-08-16",null,"Pfam:PF04981;PANTHER:PTHR12746;PANTHER:PTHR12746:SF2",{"$nulls":19},"6.821189799666172e-06",0,0,0,0,0,0,0,"1.5461200746358372e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"TGGTCGAATTT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM283299","N","Unknown",{"$nulls":3},"muse;varscan2"]
["EDIL3",10085,"BI","GRCh38","chr5",84064804,84064804,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.848A>G","p.Asn283Ser","p.N283S","ENST00000296591","2024-08-11",178,134,44,244,null,null,"EDIL3,missense_variant,p.N283S,ENST00000296591,NM_005711.5,c.848A>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.764),-1;EDIL3,missense_variant,p.N273S,ENST00000380138,NM_001278642.1,c.818A>G,MODERATE,,deleterious(0.01),benign(0.041),-1;EDIL3,non_coding_transcript_exon_variant,,ENST00000510271,,n.397A>G,MODIFIER,,,,-1","C","ENSG00000164176","ENST00000296591","Transcript","missense_variant","missense_variant","1354/4814","848/1443","283/480","N/S","aAc/aGc","COSV56885689",null,-1,"EDIL3","HGNC","HGNC:3173","protein_coding","YES","CCDS4062.1","ENSP00000296591","O43854.163",null,"UPI000004D126","O43854-1","NM_005711.5","NM_005711.5","P4",null,"deleterious(0.01)","possibly_damaging(0.764)","2024-08-11",null,"Gene3D:2.60.120.260;Pfam:PF00754;PROSITE_profiles:PS50022;PANTHER:PTHR24543;PANTHER:PTHR24543:SF283;SMART:SM00231;Superfamily:SSF49785;CDD:cd00057",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AAGAGTTAGCA","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM3856733","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PREP",5550,"BI","GRCh38","chr6",105288838,105288838,"+","Frame_Shift_Del","DEL","T","T","-",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.1176del","p.Gly393AlafsTer2","p.G393Afs*2","ENST00000369110","13/17",144,118,26,136,null,null,"PREP,frameshift_variant,p.G459Afs*2,ENST00000652536,NM_002726.5,c.1374del,HIGH,YES,,,-1;PREP,frameshift_variant,p.G393Afs*2,ENST00000369110,,c.1176del,HIGH,,,,-1","-","ENSG00000085377","ENST00000369110","Transcript","frameshift_variant","frameshift_variant","2139/3772","1176/1935","392/644","K/X","aaA/aa",null,null,-1,"PREP","HGNC","HGNC:9358","protein_coding",null,null,"ENSP00000358106",null,"A0A499FJL1.6","UPI00108A460B",{"$nulls":7},"13/17",null,"PANTHER:PTHR42881;PANTHER:PTHR42881:SF3;Gene3D:3.40.50.1820;Superfamily:SSF53474",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"TATGCCTTTTTT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM1642819","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PLEKHG1",57480,"BI","GRCh38","chr6",150809109,150809109,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.917T>C","p.Ile306Thr","p.I306T","ENST00000358517","2024-08-16",86,74,11,81,null,null,"PLEKHG1,missense_variant,p.I306T,ENST00000358517,NM_001329804.2&NM_001029884.3&NM_001329805.2&NM_001329799.2&NM_001329801.2&NM_001329806.2&NM_001329802.2&NM_001329803.2,c.917T>C,MODERATE,YES,deleterious(0),probably_damaging(0.978),1;PLEKHG1,missense_variant,p.I306T,ENST00000644968,NM_001329800.2&NM_001329798.2,c.917T>C,MODERATE,,deleterious(0),probably_damaging(0.978),1;PLEKHG1,missense_variant,p.I153T,ENST00000475490,,c.458T>C,MODERATE,,deleterious(0),probably_damaging(0.998),1","C","ENSG00000120278","ENST00000358517","Transcript","missense_variant","missense_variant","1128/7138","917/4158","306/1385","I/T","aTa/aCa","COSV62045940",null,1,"PLEKHG1","HGNC","HGNC:20884","protein_coding","YES","CCDS34552.1","ENSP00000351318","Q9ULL1.137","Q5JYA6.145","UPI000015FC80",null,"NM_001329804.2;NM_001029884.3;NM_001329805.2;NM_001329799.2;NM_001329801.2;NM_001329806.2;NM_001329802.2;NM_001329803.2",null,"P1",null,"deleterious(0)","probably_damaging(0.978)","2024-08-16",null,"CDD:cd13243;PANTHER:PTHR45924:SF1;PANTHER:PTHR45924;Gene3D:1.20.900.10;Superfamily:SSF50729;Superfamily:SSF48065",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"GGAGATACAGA","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM3859095","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RORB",6096,"BI","GRCh38","chr9",74642572,74642572,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.427A>G","p.Asn143Asp","p.N143D","ENST00000396204","2024-04-10",102,88,14,100,null,null,"RORB,missense_variant,p.N132D,ENST00000376896,NM_006914.4,c.394A>G,MODERATE,,tolerated(0.86),benign(0),1;RORB,missense_variant,p.N143D,ENST00000396204,NM_001365023.1,c.427A>G,MODERATE,YES,tolerated(0.85),benign(0),1;AL137018.1,upstream_gene_variant,,ENST00000658390,,,MODIFIER,YES,,,-1","G","ENSG00000198963","ENST00000396204","Transcript","missense_variant","missense_variant","427/2996","427/1413","143/470","N/D","Aac/Gac","COSV65333983",null,1,"RORB","HGNC","HGNC:10259","protein_coding","YES",null,"ENSP00000379507","Q92753.179","A0A1L4FMK7.19","UPI000022D774","Q92753-2","NM_001365023.1",{"$nulls":3},"tolerated(0.85)","benign(0)","2024-04-10",null,"Low_complexity_(Seg):seg;PANTHER:PTHR45805;PANTHER:PTHR45805:SF6",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGAGCAACCTG","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM3907938","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARHGAP12",94134,"BI","GRCh38","chr10",31812781,31812782,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.1876dup","p.Thr626AsnfsTer20","p.T626Nfs*20","ENST00000344936","15/20",124,98,26,201,null,null,"ARHGAP12,frameshift_variant,p.T621Nfs*20,ENST00000396144,NM_001270695.1,c.1861dup,HIGH,,,,-1;ARHGAP12,frameshift_variant,p.T626Nfs*20,ENST00000344936,NM_018287.7,c.1876dup,HIGH,YES,,,-1;ARHGAP12,frameshift_variant,p.T579Nfs*20,ENST00000375245,NM_001270697.1,c.1735dup,HIGH,,,,-1;ARHGAP12,frameshift_variant,p.T596Nfs*20,ENST00000375250,NM_001270698.2&NM_001270696.2,c.1786dup,HIGH,,,,-1;ARHGAP12,frameshift_variant,p.T574Nfs*20,ENST00000311380,NM_001270699.1,c.1720dup,HIGH,,,,-1;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000492028,,n.618dup,MODIFIER,,,,-1;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000497103,,n.586dup,MODIFIER,,,,-1;ARHGAP12,upstream_gene_variant,,ENST00000493008,,,MODIFIER,,,,-1;ARHGAP12,upstream_gene_variant,,ENST00000497085,,,MODIFIER,,,,-1","T","ENSG00000165322","ENST00000344936","Transcript","frameshift_variant","frameshift_variant","2135-2136/5060","1876-1877/2541","626/846","T/NX","acc/aAcc",null,null,-1,"ARHGAP12","HGNC","HGNC:16348","protein_coding","YES","CCDS7170.1","ENSP00000345808","Q8IWW6.158",null,"UPI000007445E","Q8IWW6-1","NM_018287.7","NM_018287.7","A1",{"$nulls":3},"15/20",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR23176;PANTHER:PTHR23176:SF107",{"$nulls":41},"HIGH",1,"insertion",1,{"$nulls":3},"TCTTGGTTTTT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["KDM2A",22992,"BI","GRCh38","chr11",67250596,67250601,"+","In_Frame_Del","DEL","GAGGAG","GAGGAG","-","rs760763015",null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.2571_2576del","p.Glu865_Glu866del","p.E865_E866del","ENST00000529006","17/21",35,31,4,30,null,null,"KDM2A,inframe_deletion,p.E865_E866del,ENST00000529006,NM_012308.3,c.2571_2576del,MODERATE,YES,,,1;KDM2A,inframe_deletion,p.E848_E849del,ENST00000308783,,c.2520_2525del,MODERATE,,,,1;KDM2A,inframe_deletion,p.E426_E427del,ENST00000530342,NM_001256405.2,c.1254_1259del,MODERATE,,,,1;KDM2A,intron_variant,,ENST00000398645,,c.2316+255_2316+260del,MODIFIER,,,,1;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,,n.2147_2152del,MODIFIER,,,,1;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,,n.1923_1928del,MODIFIER,,,,1;KDM2A,upstream_gene_variant,,ENST00000524657,,,MODIFIER,,,,1;KDM2A,downstream_gene_variant,,ENST00000525041,,,MODIFIER,,,,1;KDM2A,downstream_gene_variant,,ENST00000529124,,,MODIFIER,,,,1;KDM2A,downstream_gene_variant,,ENST00000534486,,,MODIFIER,,,,1;AP001885.3,downstream_gene_variant,,ENST00000652902,,,MODIFIER,YES,,,-1","-","ENSG00000173120","ENST00000529006","Transcript","inframe_deletion","inframe_deletion","3436-3441/7386","2566-2571/3489","856-857/1162","EE/-","GAGGAG/-","rs760763015",null,1,"KDM2A","HGNC","HGNC:13606","protein_coding","YES","CCDS44657.1","ENSP00000432786","Q9Y2K7.185","I3VM53.76","UPI00001678A9","Q9Y2K7-1","NM_012308.3","NM_012308.3","P1",{"$nulls":3},"17/21",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR23123:SF3;PANTHER:PTHR23123",{"$nulls":8},"2.45e-05",0,0,0,0,0,"5.446e-05",0,0,"5.446e-05","gnomAD_NFE","2.037430022028275e-05",0,0,0,0,0,0,0,"4.640659972210415e-05",0,0,"4.640659972210415e-05","nfe",{"$nulls":9},"MODERATE",1,"deletion",1,5,null,null,"GGGGGAGAGGAGGAGGA","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["PDZRN4",29951,"BI","GRCh38","chr12",41573756,41573756,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.2981del","p.Lys994ArgfsTer2","p.K994Rfs*2","ENST00000402685","2024-10-10",54,43,11,67,null,null,"PDZRN4,frameshift_variant,p.K994Rfs*2,ENST00000402685,NM_001164595.2,c.2981del,HIGH,YES,,,1;PDZRN4,frameshift_variant,p.K672Rfs*2,ENST00000649474,,c.2015del,HIGH,,,,1;PDZRN4,frameshift_variant,p.K734Rfs*2,ENST00000298919,,c.2201del,HIGH,,,,1;PDZRN4,frameshift_variant,p.K736Rfs*2,ENST00000539469,NM_013377.4,c.2207del,HIGH,,,,1;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,,n.2141del,MODIFIER,,,,1","-","ENSG00000165966","ENST00000402685","Transcript","frameshift_variant","frameshift_variant","3113/4102","2977/3111","993/1036","K/X","Aaa/aa","COSV100113308",null,1,"PDZRN4","HGNC","HGNC:30552","protein_coding","YES","CCDS53777.1","ENSP00000384197","Q6ZMN7.149",null,"UPI0000D621D0","Q6ZMN7-1","NM_001164595.2","NM_001164595.2","P1",{"$nulls":3},"2024-10-10",null,"Low_complexity_(Seg):seg;PANTHER:PTHR15545:SF6;PANTHER:PTHR15545",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",2,4,1,null,"AGTCACAAAAAG","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["NOS1",4842,"BI","GRCh38","chr12",117286138,117286138,"+","Missense_Mutation","SNP","C","C","T","rs1195781821",null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.1256G>A","p.Arg419His","p.R419H","ENST00000317775","2024-06-29",135,108,27,153,null,null,"NOS1,missense_variant,p.R419H,ENST00000618760,NM_001204218.1,c.1256G>A,MODERATE,YES,deleterious(0),probably_damaging(0.944),-1;NOS1,missense_variant,p.R419H,ENST00000317775,NM_000620.5&NM_001204214.1&NM_001204213.1,c.1256G>A,MODERATE,,deleterious(0),probably_damaging(0.98),-1;NOS1,missense_variant,p.R419H,ENST00000338101,,c.1256G>A,MODERATE,,deleterious(0),probably_damaging(0.944),-1;NOS1,missense_variant,p.R418H,ENST00000344089,,c.1253G>A,MODERATE,,deleterious(0),probably_damaging(0.981),-1","T","ENSG00000089250","ENST00000317775","Transcript","missense_variant","missense_variant","1791/12007","1256/4305","419/1434","R/H","cGc/cAc","rs1195781821;COSV57608819",null,-1,"NOS1","HGNC","HGNC:7872","protein_coding",null,"CCDS41842.1","ENSP00000320758","P29475.222","B3VK56.111","UPI0000130397","P29475-1","NM_000620.5;NM_001204214.1;NM_001204213.1","NM_000620.5","P4",null,"deleterious(0)","probably_damaging(0.98)","2024-06-29",null,"PDB-ENSP_mappings:4d1n.A;PDB-ENSP_mappings:4d1n.B;PDB-ENSP_mappings:4d1n.C;PDB-ENSP_mappings:4d1n.D;PDB-ENSP_mappings:4uch.A;PDB-ENSP_mappings:4uch.B;PDB-ENSP_mappings:4uh5.A;PDB-ENSP_mappings:4uh5.B;PDB-ENSP_mappings:4uh6.A;PDB-ENSP_mappings:4uh6.B;PDB-ENSP_mappings:4v3u.A;PDB-ENSP_mappings:4v3u.B;PDB-ENSP_mappings:4v3u.C;PDB-ENSP_mappings:4v3u.D;PDB-ENSP_mappings:5adf.A;PDB-ENSP_mappings:5adf.B;PDB-ENSP_mappings:5adg.A;PDB-ENSP_mappings:5adg.B;PDB-ENSP_mappings:5adi.A;PDB-ENSP_mappings:5adi.B;PDB-ENSP_mappings:5fvu.A;PDB-ENSP_mappings:5fvu.B;PDB-ENSP_mappings:5fvv.A;PDB-ENSP_mappings:5fvv.B;PDB-ENSP_mappings:5fvw.A;PDB-ENSP_mappings:5fvw.B;PDB-ENSP_mappings:5fvx.A;PDB-ENSP_mappings:5fvx.B;PDB-ENSP_mappings:5uo1.A;PDB-ENSP_mappings:5uo1.B;PDB-ENSP_mappings:5uo2.A;PDB-ENSP_mappings:5uo2.B;PDB-ENSP_mappings:5uo3.A;PDB-ENSP_mappings:5uo3.B;PDB-ENSP_mappings:5uo4.A;PDB-ENSP_mappings:5uo4.B;PDB-ENSP_mappings:5uo5.A;PDB-ENSP_mappings:5uo5.B;PDB-ENSP_mappings:5uo6.A;PDB-ENSP_mappings:5uo6.B;PDB-ENSP_mappings:5uo7.A;PDB-ENSP_mappings:5uo7.B;PDB-ENSP_mappings:5vuv.A;PDB-ENSP_mappings:5vuv.B;PDB-ENSP_mappings:5vuw.A;PDB-ENSP_mappings:5vuw.B;PDB-ENSP_mappings:5vux.A;PDB-ENSP_mappings:5vux.B;PDB-ENSP_mappings:5vuy.A;PDB-ENSP_mappings:5vuy.B;PDB-ENSP_mappings:5vuz.A;PDB-ENSP_mappings:5vuz.B;PDB-ENSP_mappings:5vv0.A;PDB-ENSP_mappings:5vv0.B;PDB-ENSP_mappings:5vv1.A;PDB-ENSP_mappings:5vv1.B;PDB-ENSP_mappings:5vv2.A;PDB-ENSP_mappings:5vv2.B;PDB-ENSP_mappings:5vv3.A;PDB-ENSP_mappings:5vv3.B;PDB-ENSP_mappings:5vv4.A;PDB-ENSP_mappings:5vv4.B;PDB-ENSP_mappings:5vv5.A;PDB-ENSP_mappings:5vv5.B;PDB-ENSP_mappings:6auy.A;PDB-ENSP_mappings:6auy.B;PDB-ENSP_mappings:6auz.A;PDB-ENSP_mappings:6auz.B;PDB-ENSP_mappings:6av0.A;PDB-ENSP_mappings:6av0.B;PDB-ENSP_mappings:6av1.A;PDB-ENSP_mappings:6av1.B;PDB-ENSP_mappings:6av2.A;PDB-ENSP_mappings:6av2.B;PDB-ENSP_mappings:6av3.A;PDB-ENSP_mappings:6av3.B;PDB-ENSP_mappings:6av4.A;PDB-ENSP_mappings:6av4.B;PDB-ENSP_mappings:6av5.A;PDB-ENSP_mappings:6av5.B;PDB-ENSP_mappings:6cic.A;PDB-ENSP_mappings:6cic.B;PDB-ENSP_mappings:6cid.A;PDB-ENSP_mappings:6cid.B;PDB-ENSP_mappings:6ng1.A;PDB-ENSP_mappings:6ng1.B;PDB-ENSP_mappings:6ng2.A;PDB-ENSP_mappings:6ng2.B;PDB-ENSP_mappings:6ng4.A;PDB-ENSP_mappings:6ng4.B;PDB-ENSP_mappings:6ng5.A;PDB-ENSP_mappings:6ng5.B;PDB-ENSP_mappings:6ng6.A;PDB-ENSP_mappings:6ng6.B;PDB-ENSP_mappings:6ng7.A;PDB-ENSP_mappings:6ng7.B;PDB-ENSP_mappings:6ng8.A;PDB-ENSP_mappings:6ng8.B;PDB-ENSP_mappings:6nga.A;PDB-ENSP_mappings:6nga.B;PDB-ENSP_mappings:6ngb.A;PDB-ENSP_mappings:6ngb.B;PDB-ENSP_mappings:6ngc.A;PDB-ENSP_mappings:6ngc.B;PDB-ENSP_mappings:6ngd.A;PDB-ENSP_mappings:6ngd.B;PDB-ENSP_mappings:6nge.A;PDB-ENSP_mappings:6nge.B;PDB-ENSP_mappings:6ngf.A;PDB-ENSP_mappings:6ngf.B;PDB-ENSP_mappings:6ngh.A;PDB-ENSP_mappings:6ngh.B;PDB-ENSP_mappings:6ngi.A;PDB-ENSP_mappings:6ngi.B;PDB-ENSP_mappings:6nhb.A;PDB-ENSP_mappings:6nhb.B;PDB-ENSP_mappings:6nhc.A;PDB-ENSP_mappings:6nhc.B;PDB-ENSP_mappings:6pna.A;PDB-ENSP_mappings:6pna.B;PDB-ENSP_mappings:6pnb.A;PDB-ENSP_mappings:6pnb.B;PDB-ENSP_mappings:6pnc.A;PDB-ENSP_mappings:6pnc.B;PDB-ENSP_mappings:6pnd.A;PDB-ENSP_mappings:6pnd.B;PDB-ENSP_mappings:6pne.A;PDB-ENSP_mappings:6pne.B;PDB-ENSP_mappings:6pnf.A;PDB-ENSP_mappings:6pnf.B;PDB-ENSP_mappings:6png.A;PDB-ENSP_mappings:6png.B;PDB-ENSP_mappings:6pnh.A;PDB-ENSP_mappings:6pnh.B;PDB-ENSP_mappings:6po5.A;PDB-ENSP_mappings:6po5.B;PDB-ENSP_mappings:6po7.A;PDB-ENSP_mappings:6po7.B;PDB-ENSP_mappings:6po8.A;PDB-ENSP_mappings:6po8.B;PDB-ENSP_mappings:6po9.A;PDB-ENSP_mappings:6po9.B;PDB-ENSP_mappings:6poa.A;PDB-ENSP_mappings:6poa.B;PDB-ENSP_mappings:6pob.A;PDB-ENSP_mappings:6pob.B;PDB-ENSP_mappings:6poc.A;PDB-ENSP_mappings:6poc.B;PDB-ENSP_mappings:6pot.A;PDB-ENSP_mappings:6pot.B;CDD:cd00795;Gene3D:3.90.340.10;PIRSF:PIRSF000333;Pfam:PF02898;Superfamily:SSF56512;PANTHER:PTHR19384:SF63;PANTHER:PTHR19384;PROSITE_patterns:PS60001",{"$nulls":19},"6.758769814041443e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CACAGCGCGAG","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM3398401","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZSCAN2",54993,"BI","GRCh38","chr15",84621616,84621616,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.1421A>G","p.Tyr474Cys","p.Y474C","ENST00000448803","2024-03-03",74,59,15,85,null,null,"ZSCAN2,missense_variant,p.Y474C,ENST00000448803,,c.1421A>G,MODERATE,YES,deleterious(0),probably_damaging(0.985),1;ZSCAN2,missense_variant,p.Y474C,ENST00000546148,NM_181877.4,c.1421A>G,MODERATE,,deleterious(0),probably_damaging(0.985),1;ZSCAN2,missense_variant,p.Y324C,ENST00000358472,,c.971A>G,MODERATE,,deleterious(0),probably_damaging(0.985),1;ZSCAN2,missense_variant,p.Y473C,ENST00000327179,,c.1418A>G,MODERATE,,deleterious(0),probably_damaging(1),1;ZSCAN2,intron_variant,,ENST00000485222,,c.577+844A>G,MODIFIER,,,,1;ZSCAN2,intron_variant,,ENST00000538076,,c.577+844A>G,MODIFIER,,,,1;ZSCAN2,intron_variant,,ENST00000541040,,c.577+844A>G,MODIFIER,,,,1;ZSCAN2,downstream_gene_variant,,ENST00000540936,,,MODIFIER,,,,1;ZSCAN2,upstream_gene_variant,,ENST00000303310,,,MODIFIER,,,,1;ZSCAN2,missense_variant,p.Y474C,ENST00000540894,,c.1421A>G,MODERATE,,deleterious(0),probably_damaging(0.985),1;AC048382.5,intron_variant,,ENST00000618330,,n.1445+9683T>C,MODIFIER,YES,,,-1;AC048382.5,intron_variant,,ENST00000658287,,n.1445+9683T>C,MODIFIER,,,,-1;AC048382.6,downstream_gene_variant,,ENST00000621980,,,MODIFIER,YES,,,-1","G","ENSG00000176371","ENST00000448803","Transcript","missense_variant","missense_variant","1713/3813","1421/1845","474/614","Y/C","tAc/tGc","COSV57571969",null,1,"ZSCAN2","HGNC","HGNC:20994","protein_coding","YES","CCDS10329.2","ENSP00000410198","Q7Z7L9.152",null,"UPI000021D4BC","Q7Z7L9-1",null,null,"P2",null,"deleterious(0)","probably_damaging(0.985)","2024-03-03",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381:SF236;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"ACCCTACGAGT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4057474","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ABR",29,"BI","GRCh38","chr17",1083579,1083579,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.580G>A","p.Ala194Thr","p.A194T","ENST00000302538","2024-05-23",116,103,10,132,null,null,"ABR,missense_variant,p.A148T,ENST00000544583,NM_001159746.3&NM_001322840.2,c.442G>A,MODERATE,,deleterious(0),probably_damaging(0.952),-1;ABR,missense_variant,p.A194T,ENST00000302538,NM_021962.5,c.580G>A,MODERATE,,deleterious(0),probably_damaging(0.952),-1;ABR,missense_variant,p.A206T,ENST00000574437,NM_001322841.2,c.616G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;ABR,missense_variant,p.A157T,ENST00000291107,NM_001092.5,c.469G>A,MODERATE,,deleterious(0),probably_damaging(0.994),-1;ABR,missense_variant,p.A104T,ENST00000570441,,c.310G>A,MODERATE,,deleterious(0),probably_damaging(0.952),-1;ABR,missense_variant,p.A115T,ENST00000575934,,c.343G>A,MODERATE,,deleterious(0),possibly_damaging(0.743),-1;ABR,upstream_gene_variant,,ENST00000536794,NM_001282149.2,,MODIFIER,,,,-1;ABR,upstream_gene_variant,,ENST00000571945,,,MODIFIER,,,,-1;ABR,non_coding_transcript_exon_variant,,ENST00000576964,,n.12G>A,MODIFIER,,,,-1;ABR,non_coding_transcript_exon_variant,,ENST00000573667,,n.193G>A,MODIFIER,,,,-1;ABR,non_coding_transcript_exon_variant,,ENST00000573325,,n.161G>A,MODIFIER,,,,-1","T","ENSG00000159842","ENST00000302538","Transcript","missense_variant","missense_variant","727/5289","580/2580","194/859","A/T","Gct/Act","COSV99348564",null,-1,"ABR","HGNC","HGNC:81","protein_coding",null,"CCDS10999.1","ENSP00000303909","Q12979.185",null,"UPI00001AED3D","Q12979-1","NM_021962.5",null,"P4",null,"deleterious(0)","probably_damaging(0.952)","2024-05-23",null,"Gene3D:1.20.900.10;Pfam:PF00621;PROSITE_profiles:PS50010;PANTHER:PTHR23182;PANTHER:PTHR23182:SF5;SMART:SM00325;Superfamily:SSF48065;CDD:cd00160",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CAGAGCGACTT","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["CCDC68",80323,"BI","GRCh38","chr18",54936918,54936918,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.386A>G","p.Asn129Ser","p.N129S","ENST00000337363","2024-06-12",153,143,10,174,null,null,"CCDC68,missense_variant,p.N129S,ENST00000591504,NM_025214.3,c.386A>G,MODERATE,YES,tolerated(0.4),benign(0.062),-1;CCDC68,missense_variant,p.N129S,ENST00000432185,,c.386A>G,MODERATE,,tolerated(0.4),benign(0.062),-1;CCDC68,missense_variant,p.N129S,ENST00000337363,NM_001143829.1,c.386A>G,MODERATE,,tolerated(0.4),benign(0.062),-1;CCDC68,upstream_gene_variant,,ENST00000592040,,,MODIFIER,,,,-1;CCDC68,non_coding_transcript_exon_variant,,ENST00000592294,,n.360A>G,MODIFIER,,,,-1;CCDC68,downstream_gene_variant,,ENST00000587148,,,MODIFIER,,,,-1","C","ENSG00000166510","ENST00000337363","Transcript","missense_variant","missense_variant","558/1457","386/1008","129/335","N/S","aAc/aGc","COSV61603261",null,-1,"CCDC68","HGNC","HGNC:24350","protein_coding",null,"CCDS11959.1","ENSP00000337209","Q9H2F9.124","A0A024R2B9.47","UPI00000435F1",null,"NM_001143829.1",null,"P1",null,"tolerated(0.4)","benign(0.062)","2024-06-12",null,"PANTHER:PTHR23171;PANTHER:PTHR23171:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CCACGTTTCTC","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4072605","N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZNF335",63925,"BI","GRCh38","chr20",45949808,45949808,"+","Missense_Mutation","SNP","C","C","T","rs1365216449",null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.3661G>A","p.Asp1221Asn","p.D1221N","ENST00000322927","24/28",105,78,27,119,null,null,"ZNF335,missense_variant,p.D1221N,ENST00000322927,NM_022095.4,c.3661G>A,MODERATE,YES,deleterious(0),probably_damaging(0.926),-1;PCIF1,downstream_gene_variant,,ENST00000372409,NM_022104.4,,MODIFIER,YES,,,1;PCIF1,downstream_gene_variant,,ENST00000479348,,,MODIFIER,,,,1","T","ENSG00000198026","ENST00000322927","Transcript","missense_variant","missense_variant","3793/4454","3661/4029","1221/1342","D/N","Gac/Aac","rs1365216449;COSV59816709",null,-1,"ZNF335","HGNC","HGNC:15807","protein_coding","YES","CCDS13389.1","ENSP00000325326","Q9H4Z2.168",null,"UPI0000001BC3","Q9H4Z2-1","NM_022095.4","NM_022095.4","P1",null,"deleterious(0)","probably_damaging(0.926)","24/28",null,"PANTHER:PTHR24403;PANTHER:PTHR24403:SF36",{"$nulls":8},"7.957e-06",0,0,0,1.088E-4,0,0,0,0,1.088E-4,"gnomAD_EAS","6.764069894416025e-06",0,0,0,0,0,0,0,0,0,0.000208419995033182,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GTTGTCGGAGG","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4098929","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SREBF2",6721,"BI","GRCh38","chr22",41866960,41866960,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CG-5721","TCGA-CG-5721-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a","3622f6a0-d481-4c2b-874c-1e3965f39982","c.218G>A","p.Ser73Asn","p.S73N","ENST00000361204","2024-02-19",69,56,13,87,null,null,"SREBF2,missense_variant,p.S43N,ENST00000612482,,c.128G>A,MODERATE,,tolerated(0.13),benign(0),1;SREBF2,missense_variant,p.S73N,ENST00000361204,NM_004599.4,c.218G>A,MODERATE,YES,tolerated(0.43),benign(0),1;SREBF2,missense_variant,p.S73N,ENST00000424354,,c.218G>A,MODERATE,,tolerated(0.2),benign(0),1","A","ENSG00000198911","ENST00000361204","Transcript","missense_variant","missense_variant","384/5237","218/3426","73/1141","S/N","aGc/aAc","COSV63330706",null,1,"SREBF2","HGNC","HGNC:11290","protein_coding","YES","CCDS14023.1","ENSP00000354476","Q12772.204","A0A024R1Q0.52","UPI00001678D0","Q12772-1","NM_004599.4","NM_004599.4","P2",null,"tolerated(0.43)","benign(0)","2024-02-19",null,"PANTHER:PTHR46062;PANTHER:PTHR46062:SF3;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAGCAGCAGCA","dfdc7463-cc67-4a67-a79f-699ec4695c1d","b9e34184-0897-4a0e-9bd8-6bf06d844fd4","588abaea-ab16-42f4-9457-5901ee791b5f",null,"COSM4104516","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KDM1A",23028,"BI","GRCh38","chr1",23083188,23083188,"+","Nonsense_Mutation","SNP","C","C","T","rs746295431",null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.2383C>T","p.Arg795Ter","p.R795*","ENST00000356634","19/19",62,50,11,65,null,null,"KDM1A,stop_gained,p.R819*,ENST00000400181,NM_001009999.3,c.2455C>T,HIGH,YES,,,1;KDM1A,stop_gained,p.R801*,ENST00000465864,NM_001363654.2,c.2401C>T,HIGH,,,,1;KDM1A,stop_gained,p.R795*,ENST00000356634,NM_015013.4,c.2383C>T,HIGH,,,,1;KDM1A,stop_gained,p.R247*,ENST00000494920,,c.739C>T,HIGH,,,,1;LUZP1,downstream_gene_variant,,ENST00000302291,,,MODIFIER,YES,,,-1;LUZP1,downstream_gene_variant,,ENST00000418342,NM_001142546.1&NM_033631.4,,MODIFIER,,,,-1;KDM1A,non_coding_transcript_exon_variant,,ENST00000602503,,n.2316C>T,MODIFIER,,,,1;AL031428.1,intron_variant,,ENST00000427154,,n.261+4610G>A,MODIFIER,YES,,,-1","T","ENSG00000004487","ENST00000356634","Transcript","stop_gained","stop_gained","2532/3033","2383/2559","795/852","R/*","Cga/Tga","rs746295431;COSV56500117",null,1,"KDM1A","HGNC","HGNC:29079","protein_coding",null,"CCDS30627.1","ENSP00000349049","O60341.206",null,"UPI000020466D","O60341-1","NM_015013.4",{"$nulls":5},"19/19",null,"PDB-ENSP_mappings:2dw4.A;PDB-ENSP_mappings:2ejr.A;PDB-ENSP_mappings:2h94.A;PDB-ENSP_mappings:2hko.A;PDB-ENSP_mappings:2iw5.A;PDB-ENSP_mappings:2uxn.A;PDB-ENSP_mappings:2uxx.A;PDB-ENSP_mappings:2v1d.A;PDB-ENSP_mappings:2x0l.A;PDB-ENSP_mappings:2xaf.A;PDB-ENSP_mappings:2xag.A;PDB-ENSP_mappings:2xah.A;PDB-ENSP_mappings:2xaj.A;PDB-ENSP_mappings:2xaq.A;PDB-ENSP_mappings:2xas.A;PDB-ENSP_mappings:2y48.A;PDB-ENSP_mappings:2z3y.A;PDB-ENSP_mappings:2z5u.A;PDB-ENSP_mappings:3abt.A;PDB-ENSP_mappings:3abu.A;PDB-ENSP_mappings:3zms.A;PDB-ENSP_mappings:3zmt.A;PDB-ENSP_mappings:3zmu.A;PDB-ENSP_mappings:3zmv.A;PDB-ENSP_mappings:3zmz.A;PDB-ENSP_mappings:3zn0.A;PDB-ENSP_mappings:3zn1.A;PDB-ENSP_mappings:4bay.A;PDB-ENSP_mappings:4czz.A;PDB-ENSP_mappings:4kum.A;PDB-ENSP_mappings:4uv8.A;PDB-ENSP_mappings:4uv9.A;PDB-ENSP_mappings:4uva.A;PDB-ENSP_mappings:4uvb.A;PDB-ENSP_mappings:4uvc.A;PDB-ENSP_mappings:4uxn.A;PDB-ENSP_mappings:4xbf.A;PDB-ENSP_mappings:5h6q.A;PDB-ENSP_mappings:5h6r.A;PDB-ENSP_mappings:5l3b.A;PDB-ENSP_mappings:5l3c.A;PDB-ENSP_mappings:5l3d.A;PDB-ENSP_mappings:5l3e.A;PDB-ENSP_mappings:5l3f.A;PDB-ENSP_mappings:5l3g.A;PDB-ENSP_mappings:5lbq.A;PDB-ENSP_mappings:5lgn.A;PDB-ENSP_mappings:5lgt.A;PDB-ENSP_mappings:5lgu.A;PDB-ENSP_mappings:5lhg.A;PDB-ENSP_mappings:5lhh.A;PDB-ENSP_mappings:5lhi.A;PDB-ENSP_mappings:5x60.A;PDB-ENSP_mappings:5yjb.A;PDB-ENSP_mappings:6k3e.A;PDB-ENSP_mappings:6kgk.A;PDB-ENSP_mappings:6kgl.A;PDB-ENSP_mappings:6kgm.A;PDB-ENSP_mappings:6kgn.A;PDB-ENSP_mappings:6kgo.A;PDB-ENSP_mappings:6kgp.A;PDB-ENSP_mappings:6kgq.A;PDB-ENSP_mappings:6kgr.A;PDB-ENSP_mappings:6nqm.A;PDB-ENSP_mappings:6nqu.A;PDB-ENSP_mappings:6nr5.A;PDB-ENSP_mappings:6s35.A;PDB-ENSP_mappings:6te1.A;PDB-ENSP_mappings:6vyp.K;PDB-ENSP_mappings:6vyp.M;PDB-ENSP_mappings:6vyp.k;PDB-ENSP_mappings:6vyp.m;PANTHER:PTHR10742;PANTHER:PTHR10742:SF350;PIRSF:PIRSF038051;Gene3D:3.50.50.60;Pfam:PF01593;Superfamily:SSF51905",{"$nulls":8},"3.994e-06",0,0,0,0,0,"8.854e-06",0,0,"8.854e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",null,"SNV",1,null,"0;1",1,"TTCCACGACTC","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,"COSM905722;COSM905723","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BAP1",8314,"BI","GRCh38","chr3",52403218,52403218,"+","Missense_Mutation","SNP","C","C","T","rs369065146",null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.1810G>A","p.Val604Met","p.V604M","ENST00000460680","14/17",40,36,4,47,null,null,"BAP1,missense_variant,p.V604M,ENST00000460680,NM_004656.4,c.1810G>A,MODERATE,YES,tolerated(0.11),benign(0.037),-1;BAP1,missense_variant,p.V586M,ENST00000296288,,c.1756G>A,MODERATE,,tolerated(0.11),benign(0.081),-1;BAP1,missense_variant,p.V105M,ENST00000478368,,c.313G>A,MODERATE,,tolerated_low_confidence(0.11),benign(0.017),-1;BAP1,intron_variant,,ENST00000469613,,c.120-377G>A,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.5,,MODIFIER,YES,,,1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,,n.217G>A,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,downstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1","T","ENSG00000163930","ENST00000460680","Transcript","missense_variant","missense_variant","1940/3600","1810/2190","604/729","V/M","Gtg/Atg","rs369065146;CM1515146",null,-1,"BAP1","HGNC","HGNC:950","protein_coding","YES","CCDS2853.1","ENSP00000417132","Q92560.166","A0A024R305.46","UPI0000071B3D",null,"NM_004656.4","NM_004656.4","P1",null,"tolerated(0.11)","benign(0.037)","14/17",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR10589:SF28;PANTHER:PTHR10589",{"$nulls":6},0,0.0002326,"2.784e-05",0,0,0,0,0,"6.155e-05",0,0,0.0002326,"EA","4.729990178020671e-05",0,0,0,0,0,0,0,1.07995001599192E-4,0,0,1.07995001599192E-4,"nfe","uncertain_significance",{"$nulls":8},"MODERATE",1,"SNV",1,null,"1;1",1,"TTCCACGACCT","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,"COSM4119058","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["NAIP",4671,"BI","GRCh38","chr5",71011276,71011277,"+","Frame_Shift_Ins","INS","-","-","G","novel",null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.666dup","p.Lys223GlnfsTer3","p.K223Qfs*3","ENST00000194097","2024-03-15",43,36,7,44,null,null,"NAIP,frameshift_variant,p.K223Qfs*3,ENST00000517649,NM_004536.3,c.666dup,HIGH,YES,,,-1;NAIP,frameshift_variant,p.K223Qfs*3,ENST00000194097,NM_001346870.2,c.666dup,HIGH,,,,-1;NAIP,frameshift_variant,p.K223Qfs*3,ENST00000508426,,c.666dup,HIGH,,,,-1;NAIP,intron_variant,,ENST00000503719,,c.183-7420dup,MODIFIER,,,,-1;NAIP,intron_variant,,ENST00000523981,NM_022892.2,c.183-7420dup,MODIFIER,,,,-1;NAIP,splice_region_variant,,ENST00000519014,,c.*144dup,LOW,,,,-1;NAIP,splice_region_variant,,ENST00000447012,,c.*144dup,LOW,,,,-1;NAIP,intron_variant,,ENST00000508794,,n.117-7420dup,MODIFIER,,,,-1","G","ENSG00000249437","ENST00000194097","Transcript","frameshift_variant","frameshift_variant;splice_region_variant","921-922/6088","666-667/4212","222-223/1403","-/X","-/C",null,null,-1,"NAIP","HGNC","HGNC:7634","protein_coding",null,"CCDS4009.1","ENSP00000443944","Q13075.181",null,"UPI000013C609","Q13075-1","NM_001346870.2",null,"P4",{"$nulls":3},"2024-03-15",null,"Gene3D:1.10.1170.10;PDB-ENSP_mappings:2vm5.A;Pfam:PF00653;PROSITE_patterns:PS01282;PROSITE_profiles:PS50143;PANTHER:PTHR46914;SMART:SM00238;Superfamily:SSF57924;CDD:cd00022",{"$nulls":41},"HIGH",null,"insertion",1,null,null,1,"TTACTTGGGGA","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel"]
["YWHAG",7532,"BI","GRCh38","chr7",76330167,76330167,"+","Missense_Mutation","SNP","C","C","T","rs780366000",null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.154G>A","p.Val52Ile","p.V52I","ENST00000307630","2024-02-02",69,61,8,96,null,null,"YWHAG,missense_variant,p.V52I,ENST00000307630,NM_012479.4,c.154G>A,MODERATE,YES,deleterious_low_confidence(0.02),benign(0.105),-1","T","ENSG00000170027","ENST00000307630","Transcript","missense_variant","missense_variant","337/3705","154/744","52/247","V/I","Gtt/Att","rs780366000;COSV56902642",null,-1,"YWHAG","HGNC","HGNC:12852","protein_coding","YES","CCDS5584.1","ENSP00000306330","P61981.176",null,"UPI000000106B",null,"NM_012479.4","NM_012479.4","P1",null,"deleterious_low_confidence(0.02)","benign(0.105)","2024-02-02",null,"Gene3D:1.20.190.20;PDB-ENSP_mappings:2b05.A;PDB-ENSP_mappings:2b05.B;PDB-ENSP_mappings:2b05.C;PDB-ENSP_mappings:2b05.D;PDB-ENSP_mappings:2b05.E;PDB-ENSP_mappings:2b05.F;PDB-ENSP_mappings:3uzd.A;PDB-ENSP_mappings:4e2e.A;PDB-ENSP_mappings:4j6s.A;PDB-ENSP_mappings:4j6s.B;PDB-ENSP_mappings:4j6s.C;PDB-ENSP_mappings:4j6s.D;PDB-ENSP_mappings:4o46.A;PDB-ENSP_mappings:4o46.B;PDB-ENSP_mappings:4o46.C;PDB-ENSP_mappings:4o46.D;PDB-ENSP_mappings:4o46.E;PDB-ENSP_mappings:4o46.F;PDB-ENSP_mappings:5d3e.A;PDB-ENSP_mappings:5d3e.B;PDB-ENSP_mappings:5d3e.E;PDB-ENSP_mappings:5d3e.F;PDB-ENSP_mappings:5d3e.I;PDB-ENSP_mappings:5d3e.J;PDB-ENSP_mappings:6a5s.A;PDB-ENSP_mappings:6a5s.B;PDB-ENSP_mappings:6a5s.D;PDB-ENSP_mappings:6a5s.G;PDB-ENSP_mappings:6byj.A;PDB-ENSP_mappings:6byj.B;PDB-ENSP_mappings:6byj.C;PDB-ENSP_mappings:6byj.D;PDB-ENSP_mappings:6byj.E;PDB-ENSP_mappings:6byj.F;PDB-ENSP_mappings:6byl.A;PDB-ENSP_mappings:6byl.B;PDB-ENSP_mappings:6byl.C;PDB-ENSP_mappings:6byl.D;PDB-ENSP_mappings:6byl.E;PDB-ENSP_mappings:6byl.F;PDB-ENSP_mappings:6bzd.A;PDB-ENSP_mappings:6bzd.B;PDB-ENSP_mappings:6bzd.C;PDB-ENSP_mappings:6bzd.D;PDB-ENSP_mappings:6fel.A;PDB-ENSP_mappings:6fel.B;PDB-ENSP_mappings:6fel.C;PDB-ENSP_mappings:6fel.D;PDB-ENSP_mappings:6gkf.A;PDB-ENSP_mappings:6gkf.B;PDB-ENSP_mappings:6gkf.C;PDB-ENSP_mappings:6gkf.D;PDB-ENSP_mappings:6gkf.E;PDB-ENSP_mappings:6gkf.F;PDB-ENSP_mappings:6gkf.G;PDB-ENSP_mappings:6gkf.H;PDB-ENSP_mappings:6gkg.A;PDB-ENSP_mappings:6gkg.B;PDB-ENSP_mappings:6gkg.C;PDB-ENSP_mappings:6gkg.D;PDB-ENSP_mappings:6gkg.E;PDB-ENSP_mappings:6gkg.F;PDB-ENSP_mappings:6gkg.G;PDB-ENSP_mappings:6gkg.H;PDB-ENSP_mappings:6s9k.A;PDB-ENSP_mappings:6sad.A;PDB-ENSP_mappings:6sad.B;Pfam:PF00244;PIRSF:PIRSF000868;Prints:PR00305;PROSITE_patterns:PS00796;PANTHER:PTHR18860;PANTHER:PTHR18860:SF81;SMART:SM00101;Superfamily:SSF48445;CDD:cd10024",{"$nulls":8},"7.967e-06",0,0,0,"5.437e-05",0,"8.812e-06",0,0,"5.437e-05","gnomAD_EAS","6.905409918545047e-06","2.496630077075679e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"CACAACGTTCT","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,"COSM3882452","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TUBA3C",7278,"BI","GRCh38","chr13",19178382,19178382,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.239del","p.Thr80LysfsTer13","p.T80Kfs*13","ENST00000400113","2024-03-05",64,55,9,82,null,null,"TUBA3C,frameshift_variant,p.T80Kfs*13,ENST00000400113,NM_006001.3,c.239del,HIGH,YES,,,-1;TUBA3C,frameshift_variant,p.T80Kfs*13,ENST00000618094,,c.239del,HIGH,,,,-1;AL139327.1,upstream_gene_variant,,ENST00000672053,,,MODIFIER,YES,,,1","-","ENSG00000198033","ENST00000400113","Transcript","frameshift_variant","frameshift_variant","316/1521","239/1353","80/450","T/X","aCa/aa","COSV67138896",null,-1,"TUBA3C","HGNC","HGNC:12408","protein_coding","YES","CCDS9284.1","ENSP00000382982","P0DPH7.14","Q1ZYQ1.133","UPI0000027DB1","P0DPH7-1","NM_006001.3","NM_006001.3","P1",{"$nulls":3},"2024-03-05",null,"Gene3D:3.40.50.1440;Pfam:PF00091;PANTHER:PTHR11588;PANTHER:PTHR11588:SF292;SMART:SM00864;Superfamily:SSF52490;CDD:cd02186",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",5,null,1,null,"GTTCCTGTGCGC","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["VASN",114990,"BI","GRCh38","chr16",4382049,4382049,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.1172G>A","p.Ser391Asn","p.S391N","ENST00000304735","2024-02-02",10,5,4,12,null,null,"VASN,missense_variant,p.S391N,ENST00000304735,NM_138440.3,c.1172G>A,MODERATE,YES,tolerated(0.36),benign(0.003),1;CORO7,intron_variant,,ENST00000251166,NM_024535.5,c.785+5937C>T,MODIFIER,YES,,,-1;CORO7,intron_variant,,ENST00000537233,NM_001201472.2,c.731+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000572044,,c.281+5937C>T,MODIFIER,,,,-1;CORO7-PAM16,intron_variant,,ENST00000572467,NM_001201479.2,c.785+5937C>T,MODIFIER,YES,,,-1;CORO7,intron_variant,,ENST00000572549,,c.320+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000574025,NM_001201473.2&NM_001351729.2,c.530+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000571227,,c.*721+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000571756,,c.*64+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000574311,,c.281+5937C>T,MODIFIER,,,,-1;CORO7-PAM16,intron_variant,,ENST00000575334,,c.785+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000575714,,n.314+5937C>T,MODIFIER,,,,-1;CORO7,intron_variant,,ENST00000576437,,c.116+13240C>T,MODIFIER,,,,-1","A","ENSG00000168140","ENST00000304735","Transcript","missense_variant","missense_variant","1327/2816","1172/2022","391/673","S/N","aGc/aAc","COSV52034587",null,1,"VASN","HGNC","HGNC:18517","protein_coding","YES","CCDS10514.1","ENSP00000306864","Q6EMK4.151",null,"UPI000003E779",null,"NM_138440.3","NM_138440.3","P1",null,"tolerated(0.36)","benign(0.003)","2024-02-02",null,"PANTHER:PTHR24369;PANTHER:PTHR24369:SF160;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCCCAGCCCGC","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,"COSM4060778","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["THOC2",57187,"BI","GRCh38","chrX",123671736,123671736,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-4201","TCGA-BR-4201-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"cf40f330-fe61-46ba-9b96-ad011d85bb21","7966b3b9-707d-40ce-9895-151824d97ea7","c.794C>G","p.Ser265Cys","p.S265C","ENST00000245838","9/39",100,75,25,118,null,null,"THOC2,missense_variant,p.S265C,ENST00000245838,NM_001081550.2,c.794C>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;THOC2,missense_variant,p.S265C,ENST00000355725,,c.794C>G,MODERATE,,deleterious(0),probably_damaging(0.998),-1;THOC2,missense_variant,p.S150C,ENST00000491737,,c.449C>G,MODERATE,,deleterious(0),probably_damaging(0.993),-1;THOC2,3_prime_UTR_variant,,ENST00000433883,,c.*424C>G,MODIFIER,,,,-1","C","ENSG00000125676","ENST00000245838","Transcript","missense_variant","missense_variant","824/5600","794/4782","265/1593","S/C","tCt/tGt","COSV55556999",null,-1,"THOC2","HGNC","HGNC:19073","protein_coding","YES","CCDS43988.1","ENSP00000245838","Q8NI27.151",null,"UPI00001D7C42","Q8NI27-1","NM_001081550.2","NM_001081550.2","P1",null,"deleterious(0)","probably_damaging(0.998)","9/39",null,"Pfam:PF16134;PANTHER:PTHR21597;PANTHER:PTHR21597:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"ATAAAGATGAT","c5e1c9a0-6222-437b-a2a9-161542a0a234","c64bdd36-d483-4ee1-b117-4b8c0f95809e","8520654b-2192-46cf-9d72-1ddb885a7c55",null,"COSM4106360;COSM4106361","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TRPS1",7227,"BI","GRCh38","chr8",115604987,115604987,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-7901","TCGA-BR-7901-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1","bf460fea-4897-4f6b-a171-649f443ff56e","c.943A>C","p.Thr315Pro","p.T315P","ENST00000220888","2024-03-06",113,97,16,129,null,null,"TRPS1,missense_variant,p.T328P,ENST00000395715,NM_001282903.3&NM_014112.5,c.982A>C,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.998),-1;TRPS1,missense_variant,p.T315P,ENST00000640765,,c.943A>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),-1;TRPS1,missense_variant,p.T315P,ENST00000220888,NM_001330599.2,c.943A>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),-1;TRPS1,missense_variant,p.T319P,ENST00000520276,NM_001282902.3,c.955A>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),-1;TRPS1,missense_variant,p.T269P,ENST00000519076,,c.805A>C,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.879),-1;TRPS1,missense_variant,p.T315P,ENST00000519674,,c.943A>C,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.879),-1;TRPS1,missense_variant,p.T319P,ENST00000517323,,c.955A>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.943),-1","G","ENSG00000104447","ENST00000220888","Transcript","missense_variant","missense_variant","1103/5480","943/3846","315/1281","T/P","Aca/Cca","COSV55247838;COSV55253732",null,-1,"TRPS1","HGNC","HGNC:12340","protein_coding",null,"CCDS83316.1","ENSP00000220888","Q9UHF7.181",null,"UPI0000137646","Q9UHF7-1","NM_001330599.2",null,"A2",null,"deleterious_low_confidence(0)","probably_damaging(0.996)","2024-03-06",null,"PANTHER:PTHR47034",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",1,"GAATGTTCCAC","928700c3-c292-4f58-9e3d-dea4d6f9b984","4609b175-1555-4638-b53c-96cd76f21e93","9b5e5122-8ea0-432c-bc64-932bf376fffd",null,"COSM3896291;COSM3896292","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMARCC2",6601,"BI","GRCh38","chr12",56174688,56174688,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-7901","TCGA-BR-7901-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1","bf460fea-4897-4f6b-a171-649f443ff56e","c.1459C>T","p.Arg487Cys","p.R487C","ENST00000267064","16/28",172,160,10,188,null,null,"SMARCC2,missense_variant,p.R487C,ENST00000550164,NM_001330288.2,c.1459C>T,MODERATE,YES,deleterious(0),probably_damaging(0.988),-1;SMARCC2,missense_variant,p.R487C,ENST00000394023,NM_001130420.3,c.1459C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;SMARCC2,missense_variant,p.R487C,ENST00000267064,NM_003075.5,c.1459C>T,MODERATE,,deleterious(0),probably_damaging(0.993),-1;SMARCC2,missense_variant,p.R487C,ENST00000347471,NM_139067.4,c.1459C>T,MODERATE,,deleterious(0),probably_damaging(0.988),-1;SMARCC2,non_coding_transcript_exon_variant,,ENST00000549209,,n.26C>T,MODIFIER,,,,-1;SMARCC2,3_prime_UTR_variant,,ENST00000552674,,c.*1122C>T,MODIFIER,,,,-1;SMARCC2,non_coding_transcript_exon_variant,,ENST00000548130,,n.803C>T,MODIFIER,,,,-1;SMARCC2,non_coding_transcript_exon_variant,,ENST00000552931,,n.45C>T,MODIFIER,,,,-1;SMARCC2,non_coding_transcript_exon_variant,,ENST00000552566,,n.377C>T,MODIFIER,,,,-1;SMARCC2,downstream_gene_variant,,ENST00000549757,,,MODIFIER,,,,-1;AC073896.4,intron_variant,,ENST00000553176,,n.213-12139C>T,MODIFIER,YES,,,-1","A","ENSG00000139613","ENST00000267064","Transcript","missense_variant","missense_variant","1546/4076","1459/3645","487/1214","R/C","Cgc/Tgc","COSV57221991",null,-1,"SMARCC2","HGNC","HGNC:11105","protein_coding",null,"CCDS8907.1","ENSP00000267064","Q8TAQ2.179","A0A024RB22.54","UPI0000071C4E","Q8TAQ2-1","NM_003075.5",null,"A2",null,"deleterious(0)","probably_damaging(0.993)","16/28",null,"PDB-ENSP_mappings:6lth.N;PDB-ENSP_mappings:6lth.O;PDB-ENSP_mappings:6ltj.N;PDB-ENSP_mappings:6ltj.O;PROSITE_profiles:PS50934;PANTHER:PTHR12802;PANTHER:PTHR12802:SF105;Gene3D:1.10.10.10;Pfam:PF04433;Superfamily:SSF46689",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"TCGGCGGCAGG","928700c3-c292-4f58-9e3d-dea4d6f9b984","4609b175-1555-4638-b53c-96cd76f21e93","9b5e5122-8ea0-432c-bc64-932bf376fffd",null,"COSM4043534;COSM4043535;COSM4043536","N","Unknown",{"$nulls":3},"muse;mutect2"]
["KIF14",9928,"BI","GRCh38","chr1",200615548,200615548,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-BR-6565","TCGA-BR-6565-10A-01D-1800-08",{"$nulls":8},"Somatic",{"$nulls":6},"7f702b28-c460-4265-9d93-83a18b65255f","0ce7327b-a7c7-4d7d-aac6-5d93385d2301","c.1174C>G","p.His392Asp","p.H392D","ENST00000367350","2024-03-30",48,27,21,60,null,null,"KIF14,missense_variant,p.H392D,ENST00000367350,NM_014875.3,c.1174C>G,MODERATE,YES,deleterious(0.01),benign(0.038),-1;KIF14,missense_variant,p.H392D,ENST00000614960,NM_001305792.1,c.1174C>G,MODERATE,,deleterious(0.01),benign(0.038),-1","C","ENSG00000118193","ENST00000367350","Transcript","missense_variant","missense_variant","1630/7291","1174/4947","392/1648","H/D","Cac/Gac","COSV66264121",null,-1,"KIF14","HGNC","HGNC:19181","protein_coding","YES","CCDS30963.1","ENSP00000356319","Q15058.180",null,"UPI000012DDA3",null,"NM_014875.3","NM_014875.3","P1",null,"deleterious(0.01)","benign(0.038)","2024-03-30",null,"Gene3D:3.40.850.10;Pfam:PF00225;PROSITE_profiles:PS50067;PANTHER:PTHR24115;PANTHER:PTHR24115:SF546;SMART:SM00129;Superfamily:SSF52540;CDD:cd01365",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,1,"AGGGTGTTCCA","4405176e-286e-4da5-8251-0eb4c56a860d","da22ba95-6286-457d-843d-e31143e990a9","daecea36-b379-46ce-8ae9-a38d22556ce2",null,"COSM4026783","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RAB27B",5874,"BI","GRCh38","chr18",54888012,54888012,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-A4CR","TCGA-BR-A4CR-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c2e6ade-14ed-45e9-bc73-dde1f69349ee","9ee683c7-c2ae-4b00-a340-e6d0daf7384e","c.361G>T","p.Ala121Ser","p.A121S","ENST00000262094","2024-05-06",163,117,46,136,null,null,"RAB27B,missense_variant,p.A121S,ENST00000262094,NM_001375327.1&NM_004163.4,c.361G>T,MODERATE,YES,tolerated(0.4),possibly_damaging(0.808),1;RAB27B,missense_variant,p.A34S,ENST00000592334,,c.100G>T,MODERATE,,tolerated(0.19),probably_damaging(0.999),1;RAB27B,downstream_gene_variant,,ENST00000586570,,,MODIFIER,,,,1;RAB27B,non_coding_transcript_exon_variant,,ENST00000586594,,n.496G>T,MODIFIER,,,,1;AC098848.1,intron_variant,,ENST00000588466,,n.540+52C>A,MODIFIER,YES,,,-1","T","ENSG00000041353","ENST00000262094","Transcript","missense_variant","missense_variant","604/7003","361/657","121/218","A/S","Gct/Tct","COSV50494384",null,1,"RAB27B","HGNC","HGNC:9767","protein_coding","YES","CCDS11958.1","ENSP00000262094","O00194.187",null,"UPI0000001268",null,"NM_001375327.1;NM_004163.4","NM_004163.4","P1",null,"tolerated(0.4)","possibly_damaging(0.808)","2024-05-06",null,"PDB-ENSP_mappings:2f7s.A;PDB-ENSP_mappings:2f7s.B;Gene3D:3.40.50.300;Pfam:PF00071;PROSITE_profiles:PS51419;PANTHER:PTHR24073;PANTHER:PTHR24073:SF587;SMART:SM00173;SMART:SM00174;SMART:SM00175;SMART:SM00176;Superfamily:SSF52540;TIGRFAM:TIGR00231;CDD:cd04127",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CAAATGCTTAT","da980b8d-766f-4d18-9c03-fc401e8db9cf","42777b83-f0da-4c87-ba25-21c87313c763","794fbad5-93ce-4f9a-aee4-37a89a6719ec",null,"COSM4072602","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRIK4",2900,"BI","GRCh38","chr11",120660326,120660326,"+","Missense_Mutation","SNP","G","G","A","rs773499648",null,"TCGA-IN-8462","TCGA-IN-8462-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"c924532b-9a64-43cd-8d71-30c832d3214d","eb8505c1-8121-4be9-9e58-889c9d7cb1e0","c.8G>A","p.Arg3His","p.R3H","ENST00000438375","2024-02-20",90,71,19,143,null,null,"GRIK4,missense_variant,p.R3H,ENST00000527524,NM_014619.5,c.8G>A,MODERATE,YES,deleterious_low_confidence(0.03),benign(0.005),1;GRIK4,missense_variant,p.R3H,ENST00000438375,NM_001282470.2&NM_001282473.2,c.8G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.005),1;GRIK4,missense_variant,p.R3H,ENST00000638419,,c.8G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.005),1;GRIK4,intron_variant,,ENST00000526536,,n.282+83763G>A,MODIFIER,,,,1;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,,n.406G>A,MODIFIER,,,,1","A","ENSG00000149403","ENST00000438375","Transcript","missense_variant","missense_variant","350/4214","8/2871","3/956","R/H","cGc/cAc","rs773499648;COSV70801832",null,1,"GRIK4","HGNC","HGNC:4582","protein_coding",null,"CCDS8433.1","ENSP00000404063","Q16099.182",null,"UPI000013DB8D",null,"NM_001282470.2;NM_001282473.2",null,"P1",null,"deleterious_low_confidence(0.03)","benign(0.005)","2024-02-20",null,"PROSITE_profiles:PS51257;PANTHER:PTHR18966;PANTHER:PTHR18966:SF171;Cleavage_site_(Signalp):SignalP-noTM",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCCCCGCGTCT","e9c6bf0a-68b9-4b19-9ca9-0ece14f0af0d","22ebab09-f7ad-498d-8839-a1061d00fdb5","ba3911e6-2208-4a04-8891-b5cba9fda6bf",null,"COSM4018632","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CCDC91",55297,"BI","GRCh38","chr12",28306898,28306898,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A8P5","TCGA-VQ-A8P5-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"7716404a-341d-4890-9b60-ce69f8efdfef","23a8e618-e476-451e-897d-2816ca807f10","c.424G>A","p.Glu142Lys","p.E142K","ENST00000381259","2024-04-12",100,76,24,71,null,null,"CCDC91,missense_variant,p.E142K,ENST00000545336,NM_001352086.2&NM_001352079.2&NM_001352081.2&NM_001352082.2&NM_001352078.2,c.424G>A,MODERATE,YES,deleterious(0.03),benign(0.048),1;CCDC91,missense_variant,p.E142K,ENST00000539107,NM_001330367.2,c.424G>A,MODERATE,,deleterious(0.02),benign(0.072),1;CCDC91,missense_variant,p.E142K,ENST00000381259,NM_001352080.2&NM_018318.5&NM_001352084.2&NM_001352083.2&NM_001352087.2,c.424G>A,MODERATE,,deleterious(0.03),benign(0.048),1;CCDC91,intron_variant,,ENST00000536154,,c.-19+81037G>A,MODIFIER,,,,1;CCDC91,intron_variant,,ENST00000540794,,c.43-84406G>A,MODIFIER,,,,1;CCDC91,downstream_gene_variant,,ENST00000538586,,,MODIFIER,,,,1;CCDC91,downstream_gene_variant,,ENST00000543534,,,MODIFIER,,,,1;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,,n.516G>A,MODIFIER,,,,1;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,,n.552G>A,MODIFIER,,,,1;CCDC91,non_coding_transcript_exon_variant,,ENST00000544649,,n.513G>A,MODIFIER,,,,1;CCDC91,missense_variant,p.E142K,ENST00000543809,,c.424G>A,MODERATE,,deleterious(0.03),benign(0.072),1;CCDC91,missense_variant,p.E142K,ENST00000545737,,c.424G>A,MODERATE,,deleterious(0.03),benign(0.048),1;CCDC91,missense_variant,p.E142K,ENST00000536442,,c.424G>A,MODERATE,,deleterious(0.03),benign(0.048),1;CCDC91,3_prime_UTR_variant,,ENST00000535520,,c.*342G>A,MODIFIER,,,,1","A","ENSG00000123106","ENST00000381259","Transcript","missense_variant","missense_variant","440/2334","424/1326","142/441","E/K","Gag/Aag","COSV100081074",null,1,"CCDC91","HGNC","HGNC:24855","protein_coding",null,"CCDS8716.1","ENSP00000370658","Q7Z6B0.136","A0A024RAW6.46","UPI00001AEE23","Q7Z6B0-1","NM_001352080.2;NM_018318.5;NM_001352084.2;NM_001352083.2;NM_001352087.2",null,"P1",null,"deleterious(0.03)","benign(0.048)","2024-04-12",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR35072;CDD:cd18039",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"GTCTGGAGATT","850805c5-2944-4640-81ac-4b2d9daee0cf","02bdc3e9-1e56-4000-a5e1-e34704d0e600","1654c42b-664b-407e-8ca7-d4cd908b709a",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLXDC2",84898,"BI","GRCh38","chr10",20177013,20177013,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-D7-8579","TCGA-D7-8579-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"8ec246de-8531-4ab1-8733-ae43cc85a8e6","34c5e3bc-b572-4b6e-9780-722172d7adc5","c.898A>C","p.Thr300Pro","p.T300P","ENST00000377252","2024-08-14",87,74,13,152,null,null,"PLXDC2,missense_variant,p.T300P,ENST00000377252,NM_032812.9,c.898A>C,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;PLXDC2,missense_variant,p.T251P,ENST00000377242,NM_001282736.2,c.751A>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,,n.673A>C,MODIFIER,,,,1","C","ENSG00000120594","ENST00000377252","Transcript","missense_variant","missense_variant","1546/12275","898/1590","300/529","T/P","Aca/Cca","COSV65905740",null,1,"PLXDC2","HGNC","HGNC:21013","protein_coding","YES","CCDS7132.1","ENSP00000366460","Q6UX71.128",null,"UPI0000048F2C","Q6UX71-1","NM_032812.9","NM_032812.9","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-08-14",null,"PANTHER:PTHR13055:SF11;PANTHER:PTHR13055",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GAAGAACAATT","9401d744-e8c5-4c76-94d6-a71f175c3b6a","feeb88d1-4f32-453e-869c-d3cf1edd310e","81a7f6a2-e44c-43d6-b687-01158eaf44ee",null,"COSM4013257","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ABL2",27,"BI","GRCh38","chr1",179108220,179108220,"+","Nonsense_Mutation","SNP","G","G","C",null,null,"TCGA-RD-A7BT","TCGA-RD-A7BT-10A-01D-A33W-08",{"$nulls":8},"Somatic",{"$nulls":6},"d9cd8946-61e9-4d4c-974c-08e0f790a16a","e717ba5f-74e7-4f17-90d3-6599a3fdcc8d","c.3047C>G","p.Ser1016Ter","p.S1016*","ENST00000502732","2024-12-12",146,131,15,130,null,null,"ABL2,stop_gained,p.S1016*,ENST00000502732,NM_007314.4,c.3047C>G,HIGH,YES,,,-1;ABL2,stop_gained,p.S898*,ENST00000344730,NM_001136000.3,c.2693C>G,HIGH,,,,-1;ABL2,stop_gained,p.S1001*,ENST00000512653,NM_005158.5,c.3002C>G,HIGH,,,,-1;ABL2,stop_gained,p.S995*,ENST00000367623,NM_001168236.2,c.2984C>G,HIGH,,,,-1;ABL2,stop_gained,p.S913*,ENST00000511413,NM_001168237.2,c.2738C>G,HIGH,,,,-1;ABL2,stop_gained,p.S892*,ENST00000507173,NM_001168238.2,c.2675C>G,HIGH,,,,-1;ABL2,stop_gained,p.S877*,ENST00000504405,NM_001168239.2,c.2630C>G,HIGH,,,,-1;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1,,MODIFIER,,,,-1;ABL2,downstream_gene_variant,,ENST00000668691,,,MODIFIER,,,,-1","C","ENSG00000143322","ENST00000502732","Transcript","stop_gained","stop_gained","3327/12217","3047/3549","1016/1182","S/*","tCa/tGa","COSV100773098",null,-1,"ABL2","HGNC","HGNC:77","protein_coding","YES","CCDS30947.1","ENSP00000427562","P42684.222",null,"UPI0000125140","P42684-1","NM_007314.4","NM_007314.4","P4",{"$nulls":3},"2024-12-12",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,1,"TTTCTGATGTG","4cdb980c-b48b-486c-884f-dd0fda32e9a1","7e90af9a-a284-408c-aa00-d1cccf41254c","018f93ad-92ef-4bbb-a0fb-dc407a289daa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PRRG3",79057,"BI","GRCh38","chrX",151700611,151700612,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-D7-5577","TCGA-D7-5577-10A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"f2e22c70-8295-481b-a853-e756e7a7d8e7","000c187a-0896-4c4a-81e8-36479b55b228","c.275dup","p.Ile93AspfsTer49","p.I93Dfs*49","ENST00000370353","2024-04-04",446,319,127,467,null,null,"PRRG3,frameshift_variant,p.I93Dfs*49,ENST00000370353,,c.275dup,HIGH,YES,,,1;PRRG3,frameshift_variant,p.I93Dfs*49,ENST00000674457,NM_001372163.1,c.275dup,HIGH,,,,1;PRRG3,frameshift_variant,p.I57Dfs*49,ENST00000674441,NM_001372165.1,c.167dup,HIGH,,,,1;PRRG3,frameshift_variant,p.I57Dfs*49,ENST00000674374,,c.167dup,HIGH,,,,1;PRRG3,frameshift_variant,p.I93Dfs*49,ENST00000538575,NM_024082.3,c.275dup,HIGH,,,,1;PRRG3,frameshift_variant,p.I22Dfs*87,ENST00000448324,,c.62dup,HIGH,,,,1;PRRG3,3_prime_UTR_variant,,ENST00000370354,,c.*135dup,MODIFIER,,,,1;PRRG3,downstream_gene_variant,,ENST00000448726,,,MODIFIER,,,,1;PRRG3,downstream_gene_variant,,ENST00000652529,,,MODIFIER,,,,1","T","ENSG00000130032","ENST00000370353","Transcript","frameshift_variant","frameshift_variant","664-665/5977","274-275/696","92/231","L/LX","ctg/cTtg",null,null,1,"PRRG3","HGNC","HGNC:30798","protein_coding","YES","CCDS14699.1","ENSP00000359378","Q9BZD7.141",null,"UPI00004578A5",{"$nulls":3},"P1",{"$nulls":3},"2024-04-04",null,"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;PANTHER:PTHR24251:SF12;PANTHER:PTHR24251",{"$nulls":41},"HIGH",1,"insertion",1,1,null,null,"CACTGCTGATT","7446120a-f7db-43f8-9003-e9aa39848c2d","e81a7173-c5c1-4e4c-82d1-f7c8d6872e3a","2dc154aa-c478-404b-a92e-86abcc8dbdb7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PGD",5226,"BI","GRCh38","chr1",10417066,10417066,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-VQ-AA64","TCGA-VQ-AA64-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"91be81a2-59a5-4bf3-8959-c32dbf36daf0","831f5a8d-a146-4e0a-8189-2dd2fa32e621","c.924G>T","p.Gln308His","p.Q308H","ENST00000270776","2024-09-13",120,110,10,111,null,null,"PGD,missense_variant,p.Q308H,ENST00000270776,NM_001304452.2&NM_002631.4&NM_001304451.2,c.924G>T,MODERATE,YES,tolerated(0.15),benign(0),1;PGD,missense_variant,p.Q163H,ENST00000483936,,c.489G>T,MODERATE,,tolerated_low_confidence(0.06),benign(0.007),1;PGD,downstream_gene_variant,,ENST00000460189,,,MODIFIER,,,,1;PGD,non_coding_transcript_exon_variant,,ENST00000498356,,n.181G>T,MODIFIER,,,,1;PGD,downstream_gene_variant,,ENST00000493288,,,MODIFIER,,,,1;PGD,upstream_gene_variant,,ENST00000496718,,,MODIFIER,,,,1","T","ENSG00000142657","ENST00000270776","Transcript","missense_variant","missense_variant","978/2268","924/1452","308/483","Q/H","caG/caT","COSV99581554",null,1,"PGD","HGNC","HGNC:8891","protein_coding","YES","CCDS113.1","ENSP00000270776","P52209.197",null,"UPI0000169DB9","P52209-1","NM_001304452.2;NM_002631.4;NM_001304451.2","NM_002631.4","P1",null,"tolerated(0.15)","benign(0)","2024-09-13",null,"PDB-ENSP_mappings:2jkv.A;PDB-ENSP_mappings:2jkv.B;PDB-ENSP_mappings:2jkv.C;PDB-ENSP_mappings:2jkv.D;PDB-ENSP_mappings:2jkv.E;PDB-ENSP_mappings:2jkv.F;PDB-ENSP_mappings:4gwg.A;PDB-ENSP_mappings:4gwk.A;PDB-ENSP_mappings:5uq9.A;PDB-ENSP_mappings:5uq9.B;PDB-ENSP_mappings:5uq9.C;PDB-ENSP_mappings:5uq9.D;PDB-ENSP_mappings:5uq9.E;PDB-ENSP_mappings:5uq9.F;PDB-ENSP_mappings:5uq9.G;PDB-ENSP_mappings:5uq9.H;PANTHER:PTHR11811:SF50;PANTHER:PTHR11811;PIRSF:PIRSF000109;TIGRFAM:TIGR00873;Pfam:PF00393;Gene3D:1.10.1040.10;SMART:SM01350;Superfamily:SSF48179",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCCCAGAAGTT","ecedc855-8284-4edf-a491-88cb17f9085b","d9bafa52-1e4d-471d-8726-f5889bc929e7","fb143117-c3ad-4f4b-8f39-7586279e8eaa",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["PARP14",54625,"BI","GRCh38","chr3",122714385,122714385,"+","Frame_Shift_Del","DEL","A","A","-","rs758945932",null,"TCGA-VQ-A8E3","TCGA-VQ-A8E3-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"738e2b79-3f5a-42eb-a39d-a8cc73265c47","a9887fee-0852-4ba9-a429-32fc8bb4cce6","c.3965del","p.Asn1322IlefsTer26","p.N1322Ifs*26","ENST00000474629","2024-12-17",30,14,15,26,null,null,"PARP14,frameshift_variant,p.N1322Ifs*26,ENST00000474629,NM_017554.3,c.3965del,HIGH,YES,,,1;PARP14,upstream_gene_variant,,ENST00000475640,,,MODIFIER,,,,1;PARP14,frameshift_variant,p.N1163Ifs*26,ENST00000460683,,c.3488del,HIGH,,,,1;PARP14,3_prime_UTR_variant,,ENST00000649945,,c.*840del,MODIFIER,,,,1;PARP14,non_coding_transcript_exon_variant,,ENST00000474669,,n.1994del,MODIFIER,,,,1","-","ENSG00000173193","ENST00000474629","Transcript","frameshift_variant","frameshift_variant","4001/7694","3956/5406","1319/1801","E/X","gAa/ga","rs758945932",null,1,"PARP14","HGNC","HGNC:29232","protein_coding","YES","CCDS46894.1","ENSP00000418194","Q460N5.138",null,"UPI00015A20AB","Q460N5-6","NM_017554.3","NM_017554.3","P1",{"$nulls":3},"2024-12-17",null,"PDB-ENSP_mappings:4abk.A;PDB-ENSP_mappings:4abl.A;PDB-ENSP_mappings:5qht.A;PDB-ENSP_mappings:5qhu.A;PDB-ENSP_mappings:5qhv.A;PDB-ENSP_mappings:5qhw.A;PDB-ENSP_mappings:5qhx.A;PDB-ENSP_mappings:5qhy.A;PDB-ENSP_mappings:5qhz.A;PDB-ENSP_mappings:5qi0.A;PDB-ENSP_mappings:5qi1.A;PDB-ENSP_mappings:5qi2.A;PDB-ENSP_mappings:5qi3.A;PDB-ENSP_mappings:5qi4.A;PDB-ENSP_mappings:5qi5.A;PDB-ENSP_mappings:5qi6.A;PDB-ENSP_mappings:5qi7.A;PDB-ENSP_mappings:5qi8.A;PDB-ENSP_mappings:5qi9.A;PDB-ENSP_mappings:5qia.A;PROSITE_profiles:PS51154;CDD:cd02903;PANTHER:PTHR14453:SF89;PANTHER:PTHR14453;Gene3D:3.40.220.10;Pfam:PF01661;SMART:SM00506;Superfamily:SSF52949",{"$nulls":6},0.005779,0.00458,1.753E-3,0.001494,4.901E-3,0.003301,0.00307,1.672E-4,0.001226,0.002043,1.707E-3,0.005779,"AA",{"$nulls":22},"HIGH",1,"deletion",1,9,null,null,"AGTGTGAAAAAA","ac5fb8df-210f-4328-825d-514bdc56a2f3","c1b8c753-a574-4bf1-b69d-e4cb75603699","e9b3822b-699d-412f-abd2-df399efcce8c",null,"COSM1418324;COSM1418325","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["PDZD2",23037,"BI","GRCh38","chr5",32090595,32090595,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-VQ-A8E3","TCGA-VQ-A8E3-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"738e2b79-3f5a-42eb-a39d-a8cc73265c47","a9887fee-0852-4ba9-a429-32fc8bb4cce6","c.7147G>T","p.Gly2383Cys","p.G2383C","ENST00000438447","20/25",66,48,17,53,null,null,"PDZD2,missense_variant,p.G2383C,ENST00000438447,NM_178140.4,c.7147G>T,MODERATE,YES,tolerated(0.13),benign(0.003),1","T","ENSG00000133401","ENST00000438447","Transcript","missense_variant","missense_variant","7814/11984","7147/8520","2383/2839","G/C","Ggc/Tgc","COSV56859815",null,1,"PDZD2","HGNC","HGNC:18486","protein_coding","YES","CCDS34137.1","ENSP00000402033","O15018.150","A0A024RE15.42","UPI000069648B","O15018-1","NM_178140.4","NM_178140.4","P1",null,"tolerated(0.13)","benign(0.003)","20/25",null,"PANTHER:PTHR11324;PANTHER:PTHR11324:SF16;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GCCTGGGCCAC","ac5fb8df-210f-4328-825d-514bdc56a2f3","c1b8c753-a574-4bf1-b69d-e4cb75603699","e9b3822b-699d-412f-abd2-df399efcce8c",null,"COSM5737184","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GOLGA3",2802,"BI","GRCh38","chr12",132789142,132789142,"+","Missense_Mutation","SNP","G","G","A","rs149136461",null,"TCGA-VQ-A8E3","TCGA-VQ-A8E3-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"738e2b79-3f5a-42eb-a39d-a8cc73265c47","a9887fee-0852-4ba9-a429-32fc8bb4cce6","c.2696C>T","p.Ala899Val","p.A899V","ENST00000204726","13/24",55,40,15,60,null,null,"GOLGA3,missense_variant,p.A899V,ENST00000204726,NM_005895.4,c.2696C>T,MODERATE,YES,tolerated(0.79),benign(0.001),-1;GOLGA3,missense_variant,p.A899V,ENST00000450791,,c.2696C>T,MODERATE,,tolerated(0.79),benign(0.001),-1;GOLGA3,missense_variant,p.A899V,ENST00000456883,,c.2696C>T,MODERATE,,tolerated(0.77),benign(0.001),-1;GOLGA3,missense_variant,p.A899V,ENST00000545875,NM_001172557.2,c.2696C>T,MODERATE,,tolerated(0.6),benign(0.001),-1","A","ENSG00000090615","ENST00000204726","Transcript","missense_variant","missense_variant","3422/9414","2696/4497","899/1498","A/V","gCg/gTg","rs149136461",null,-1,"GOLGA3","HGNC","HGNC:4426","protein_coding","YES","CCDS9281.1","ENSP00000204726","Q08378.183",null,"UPI0000190979","Q08378-1","NM_005895.4",null,"P3",null,"tolerated(0.79)","benign(0.001)","13/24",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR18902;PANTHER:PTHR18902:SF26",{"$nulls":6},0.0004539,0,"2.397e-05",0,0,0,0,0,"4.418e-05",0.0001634,0,0.0004539,"AA","3.3798398362705484e-05","7.294659735634923e-05",0,0,0,0,0,0,"3.086130163865164e-05",0,0,"7.294659735634923e-05","afr",{"$nulls":9},"MODERATE",1,"SNV",5,{"$nulls":3},"GCTCCGCCTCG","ac5fb8df-210f-4328-825d-514bdc56a2f3","c1b8c753-a574-4bf1-b69d-e4cb75603699","e9b3822b-699d-412f-abd2-df399efcce8c",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DNAH2",146754,"BI","GRCh38","chr17",7792289,7792289,"+","Missense_Mutation","SNP","G","G","A","rs761361398",null,"TCGA-KB-A93G","TCGA-KB-A93G-10A-01D-A39A-08",{"$nulls":8},"Somatic",{"$nulls":6},"471ebfde-5751-4c84-acf4-318d1a278c5a","7b593993-2f70-47d3-bcec-a2a553bd8313","c.7091G>A","p.Arg2364Gln","p.R2364Q","ENST00000389173","45/85",290,270,20,192,null,null,"DNAH2,missense_variant,p.R2364Q,ENST00000572933,NM_020877.4,c.7091G>A,MODERATE,YES,deleterious(0.03),benign(0.047),1;DNAH2,missense_variant,p.R2364Q,ENST00000389173,,c.7091G>A,MODERATE,,deleterious(0.03),benign(0.047),1;DNAH2,downstream_gene_variant,,ENST00000574518,,,MODIFIER,,,,1","A","ENSG00000183914","ENST00000389173","Transcript","missense_variant","missense_variant","7105/13505","7091/13284","2364/4427","R/Q","cGg/cAg","rs761361398;COSV101209545",null,1,"DNAH2","HGNC","HGNC:2948","protein_coding",null,"CCDS32551.1","ENSP00000373825","Q9P225.136",null,"UPI00005B2F0D","Q9P225-1",null,null,"P1",null,"deleterious(0.03)","benign(0.047)","45/85",null,"Pfam:PF17852;PANTHER:PTHR10676;PANTHER:PTHR10676:SF183",{"$nulls":19},"2.7072399461758323e-05",0,0,0,0,0,0,0,"3.088140147156082e-05",0,0.00041805999353528,0.00041805999353528,"sas",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"AATACGGAGTT","292f811d-4a6e-4fe8-bf58-5f45769bb5af","0e096fd8-39ab-4b0e-a66b-dcd76ce61a27","e52396d1-acd6-44f4-99c5-1a367128008d",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZFYVE9",9372,"BI","GRCh38","chr1",52293470,52293470,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-R5-A805","TCGA-R5-A805-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"82da59d4-44a1-4625-9bb0-de2987344e5e","5bee69ed-92b3-4c54-b6c5-775adb6ef510","c.3043T>G","p.Leu1015Val","p.L1015V","ENST00000287727","2024-11-19",65,53,12,60,null,null,"ZFYVE9,missense_variant,p.L1015V,ENST00000371591,,c.3043T>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.981),1;ZFYVE9,missense_variant,p.L1015V,ENST00000287727,NM_004799.3,c.3043T>G,MODERATE,,deleterious(0.01),probably_damaging(0.981),1;ZFYVE9,missense_variant,p.L956V,ENST00000357206,NM_007324.4,c.2866T>G,MODERATE,,deleterious(0.01),possibly_damaging(0.731),1;ZFYVE9,upstream_gene_variant,,ENST00000469134,,,MODIFIER,,,,1","G","ENSG00000157077","ENST00000287727","Transcript","missense_variant","missense_variant","3495/5194","3043/4278","1015/1425","L/V","Ttg/Gtg","COSV99820476",null,1,"ZFYVE9","HGNC","HGNC:6775","protein_coding",null,"CCDS563.1","ENSP00000287727","O95405.183",null,"UPI0000001620","O95405-1","NM_004799.3",null,"P1",null,"deleterious(0.01)","probably_damaging(0.981)","2024-11-19",null,"PDB-ENSP_mappings:4bkw.A;PANTHER:PTHR46319;PANTHER:PTHR46319:SF2;PIRSF:PIRSF037289",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"GCAACTTGGGA","adb56632-09fc-4df9-ba0a-b3aa0f87688a","367531d6-ef45-49c9-9c2e-b2227e4ed9df","7059ea66-93d7-4941-a35c-8a324d1ab94a",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BMPR2",659,"BI","GRCh38","chr2",202555407,202555407,"+","Frame_Shift_Del","DEL","A","A","-","rs772920507",null,"TCGA-BR-4280","TCGA-BR-4280-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"41b158f4-026e-4f40-9175-f3e5c0b1f8ce","3fea064a-3d4a-4a19-a445-de5e616a5edd","c.1748del","p.Asn583ThrfsTer44","p.N583Tfs*44","ENST00000374580","2024-12-13",122,53,69,96,null,null,"BMPR2,frameshift_variant,p.N583Tfs*44,ENST00000374580,NM_001204.7,c.1748del,HIGH,YES,,,1;BMPR2,3_prime_UTR_variant,,ENST00000638587,,c.*164del,MODIFIER,,,,1;BMPR2,intron_variant,,ENST00000374574,,c.1586+2525del,MODIFIER,,,,1","-","ENSG00000204217","ENST00000374580","Transcript","frameshift_variant","frameshift_variant","2890/12068","1742/3117","581/1038","E/X","gAa/ga","rs772920507;COSV65808737",null,1,"BMPR2","HGNC","HGNC:1078","protein_coding","YES","CCDS33361.1","ENSP00000363708","Q13873.217",null,"UPI0000126A3B","Q13873-1","NM_001204.7","NM_001204.7","P1",{"$nulls":3},"2024-12-13",null,"PANTHER:PTHR23255;PANTHER:PTHR23255:SF63",{"$nulls":8},"3.977e-06",0,0,0,0,0,"8.793e-06",0,0,"8.793e-06","gnomAD_NFE",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,6,"0;1",1,"TAGGGGAAAAAA","167a7032-3cca-42d2-b5af-56e5c5d40f18","35acc4ba-c50f-472e-a8e3-da65ddd2e816","e0916597-e489-45ef-a8f7-653a3c6591ef",null,"COSM1180896","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["VCPIP1",80124,"BI","GRCh38","chr8",66665059,66665059,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-4280","TCGA-BR-4280-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"41b158f4-026e-4f40-9175-f3e5c0b1f8ce","3fea064a-3d4a-4a19-a445-de5e616a5edd","c.1900T>G","p.Phe634Val","p.F634V","ENST00000310421","2024-01-03",210,130,80,176,null,null,"VCPIP1,missense_variant,p.F634V,ENST00000310421,NM_025054.5,c.1900T>G,MODERATE,YES,deleterious(0),probably_damaging(0.954),-1;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.2,,MODIFIER,YES,,,1;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,,,MODIFIER,,,,1;C8orf44,upstream_gene_variant,,ENST00000521113,,,MODIFIER,,,,1;C8orf44,upstream_gene_variant,,ENST00000521889,,,MODIFIER,,,,1;C8orf44,upstream_gene_variant,,ENST00000661636,,,MODIFIER,YES,,,1","C","ENSG00000175073","ENST00000310421","Transcript","missense_variant","missense_variant","2173/9956","1900/3669","634/1222","F/V","Ttt/Gtt","COSV60046732",null,-1,"VCPIP1","HGNC","HGNC:30897","protein_coding","YES","CCDS6192.1","ENSP00000309031","Q96JH7.153",null,"UPI00001D3EF3",null,"NM_025054.5","NM_025054.5","P1",null,"deleterious(0)","probably_damaging(0.954)","2024-01-03",null,"PANTHER:PTHR14843",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGGAAAGTGCT","167a7032-3cca-42d2-b5af-56e5c5d40f18","35acc4ba-c50f-472e-a8e3-da65ddd2e816","e0916597-e489-45ef-a8f7-653a3c6591ef",null,"COSM3901063","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TBPL2",387332,"BI","GRCh38","chr14",55433631,55433631,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-4280","TCGA-BR-4280-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"41b158f4-026e-4f40-9175-f3e5c0b1f8ce","3fea064a-3d4a-4a19-a445-de5e616a5edd","c.787A>G","p.Ser263Gly","p.S263G","ENST00000247219","2024-04-07",151,82,69,104,null,null,"TBPL2,missense_variant,p.S263G,ENST00000247219,NM_199047.2,c.787A>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.482),-1;TBPL2,downstream_gene_variant,,ENST00000556755,,,MODIFIER,,,,-1","C","ENSG00000182521","ENST00000247219","Transcript","missense_variant","missense_variant;splice_region_variant","858/2037","787/1128","263/375","S/G","Agt/Ggt","COSV55972331",null,-1,"TBPL2","HGNC","HGNC:19841","protein_coding","YES","CCDS9724.1","ENSP00000247219","Q6SJ96.127",null,"UPI0000226668",null,"NM_199047.2",null,"P1",null,"deleterious(0.01)","possibly_damaging(0.482)","2024-04-07",null,"Gene3D:3.30.310.10;HAMAP:MF_00408;Pfam:PF00352;Prints:PR00686;PANTHER:PTHR10126;PANTHER:PTHR10126:SF37;Superfamily:SSF55945;CDD:cd04516",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATACCTTTTGG","167a7032-3cca-42d2-b5af-56e5c5d40f18","35acc4ba-c50f-472e-a8e3-da65ddd2e816","e0916597-e489-45ef-a8f7-653a3c6591ef",null,"COSM4051364","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF543",125919,"BI","GRCh38","chr19",57327890,57327890,"+","Frame_Shift_Del","DEL","G","G","-",null,null,"TCGA-BR-4280","TCGA-BR-4280-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"41b158f4-026e-4f40-9175-f3e5c0b1f8ce","3fea064a-3d4a-4a19-a445-de5e616a5edd","c.432del","p.Lys145SerfsTer6","p.K145Sfs*6","ENST00000321545","2024-04-04",56,46,10,73,null,null,"ZNF543,frameshift_variant,p.K145Sfs*6,ENST00000321545,NM_213598.4,c.432del,HIGH,YES,,,1","-","ENSG00000178229","ENST00000321545","Transcript","frameshift_variant","frameshift_variant","810/3690","428/1803","143/600","R/X","cGg/cg","COSV100386962",null,1,"ZNF543","HGNC","HGNC:25281","protein_coding","YES","CCDS33130.1","ENSP00000322545","Q08ER8.122",null,"UPI00001D8197",null,"NM_213598.4","NM_213598.4","P1",{"$nulls":3},"2024-04-04",null,"PANTHER:PTHR24384;PANTHER:PTHR24384:SF195",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"deletion",1,4,1,null,"CCCAGCGGGGGA","167a7032-3cca-42d2-b5af-56e5c5d40f18","35acc4ba-c50f-472e-a8e3-da65ddd2e816","e0916597-e489-45ef-a8f7-653a3c6591ef",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["FAM155B",0,"BI","GRCh38","chrX",69529831,69529831,"+","Missense_Mutation","SNP","C","C","T","rs367802100",null,"TCGA-RD-A7C1","TCGA-RD-A7C1-10A-01D-A32N-08",{"$nulls":8},"Somatic",{"$nulls":6},"9525681b-7e66-4fd3-8eb0-583ba442b4e1","2b46b8b7-28da-4e67-a5ae-77c9e631aabd","c.1294C>T","p.Arg432Trp","p.R432W","ENST00000252338","2024-03-03",76,36,40,67,null,null,"FAM155B,missense_variant,p.R432W,ENST00000252338,NM_015686.3,c.1294C>T,MODERATE,YES,deleterious(0),probably_damaging(0.958),1","T","ENSG00000130054","ENST00000252338","Transcript","missense_variant","missense_variant","2251/4928","1294/1419","432/472","R/W","Cgg/Tgg","rs367802100;COSV99368690;COSV99368692",null,1,"FAM155B","HGNC","HGNC:30701","protein_coding","YES","CCDS35317.1","ENSP00000252338","O75949.132",null,"UPI0000070EAA",null,"NM_015686.3","NM_015686.3","P1",null,"deleterious(0)","probably_damaging(0.958)","2024-03-03",null,"PANTHER:PTHR15819;PANTHER:PTHR15819:SF8",{"$nulls":6},0,0.0001486,"5.487e-06",0,0,0,0,0,"1.237e-05",0,0,0.0001486,"EA","1.836460069171153e-05",0,0,0,0,0,0,0,"3.9335998735623434e-05",0,0,"3.9335998735623434e-05","nfe",null,"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1;1",null,"GGATCCGGCTC","7d495690-21f5-44f3-b9e9-a03eecf789d5","76500421-c376-4487-b256-99800f20d362","c993a68d-0342-4df4-a082-72094f061c86",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL5A1",1289,"BI","GRCh38","chr9",134795266,134795266,"+","Missense_Mutation","SNP","C","C","T","rs375600865",null,"TCGA-BR-8060","TCGA-BR-8060-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"193578c4-5619-42bf-834d-a73723a5e7f3","6d72fc1f-d9ec-4c34-9357-a9f71f33b834","c.2750C>T","p.Pro917Leu","p.P917L","ENST00000371817","34/66",180,124,56,208,null,null,"COL5A1,missense_variant,p.P917L,ENST00000371817,NM_000093.5,c.2750C>T,MODERATE,YES,tolerated(0.16),probably_damaging(0.999),1;COL5A1,missense_variant,p.P917L,ENST00000618395,NM_001278074.1,c.2750C>T,MODERATE,,tolerated(0.16),possibly_damaging(0.823),1","T","ENSG00000130635","ENST00000371817","Transcript","missense_variant","missense_variant","3135/8442","2750/5517","917/1838","P/L","cCg/cTg","rs375600865;COSV65664570",null,1,"COL5A1","HGNC","HGNC:2209","protein_coding","YES","CCDS6982.1","ENSP00000360882","P20908.216","A0A024R8E5.45","UPI0000210EE3","P20908-1","NM_000093.5","NM_000093.5","P3",null,"tolerated(0.16)","probably_damaging(0.999)","34/66",null,"PANTHER:PTHR24023;PANTHER:PTHR24023:SF387;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":6},0,0.0001163,"1.99e-05",0,0,0,0,0,"3.522e-05",0,"3.266e-05",0.0001163,"EA","1.354649975837674e-05",0,0,0,0,0,0,0,"3.0886101740179583e-05",0,0,"3.0886101740179583e-05","nfe","uncertain_significance","0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",1,"GGGTCCGAGGG","6daefca2-ce03-419c-bfa8-f60fa4b3461a","2e91a5bf-7859-415a-b006-0b8fc9720246","23ef21a0-3695-4ca2-99e2-274805f11892",null,"COSM204691","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FSHR",2492,"BI","GRCh38","chr2",48968773,48968773,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A487","TCGA-CD-A487-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"d2697d19-16d0-4862-8b7f-14614f30a796","de4f77ac-9ca4-4202-bf11-9c418ac9befa","c.779A>C","p.Lys260Thr","p.K260T","ENST00000406846","2024-09-10",52,46,6,80,null,null,"FSHR,missense_variant,p.K260T,ENST00000406846,NM_000145.4,c.779A>C,MODERATE,YES,tolerated(0.44),benign(0.011),-1;FSHR,missense_variant,p.K234T,ENST00000304421,NM_181446.3,c.701A>C,MODERATE,,tolerated(0.45),benign(0),-1;FSHR,intron_variant,,ENST00000454032,,c.669-4807A>C,MODIFIER,,,,-1;FSHR,non_coding_transcript_exon_variant,,ENST00000469138,,n.540A>C,MODIFIER,,,,-1;AC009975.1,intron_variant,,ENST00000634588,,n.492+22368T>G,MODIFIER,YES,,,1","G","ENSG00000170820","ENST00000406846","Transcript","missense_variant","missense_variant","877/2762","779/2088","260/695","K/T","aAg/aCg","COSV58625816",null,-1,"FSHR","HGNC","HGNC:3969","protein_coding","YES","CCDS1843.1","ENSP00000384708",null,"A0A1D5RMN4.23","UPI000013E97A",null,"NM_000145.4","NM_000145.4","P1",null,"tolerated(0.44)","benign(0.011)","2024-09-10",null,"PANTHER:PTHR24372:SF5;PANTHER:PTHR24372",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAAGCTTTTCC","c053a333-5286-42aa-96b2-1efeeab9d8c3","c8b7309d-c238-4cf4-b847-f69017e70e33","b7d2401e-7d64-4c89-a74c-16d634cafe7f",null,"COSM4094527","N","Unknown",{"$nulls":3},"muse;mutect2"]
["SRBD1",55133,"BI","GRCh38","chr2",45599611,45599612,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-HU-A4H3","TCGA-HU-A4H3-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4217ee3-8720-46c6-86c4-981ce6377fa9","1f68952d-2c49-4562-815b-bab0dc54415a","c.485dup","p.Gly163ArgfsTer9","p.G163Rfs*9","ENST00000263736","2024-04-21",236,175,61,262,null,null,"SRBD1,frameshift_variant,p.G163Rfs*9,ENST00000263736,NM_018079.5,c.485dup,HIGH,YES,,,-1;SRBD1,downstream_gene_variant,,ENST00000461805,,,MODIFIER,,,,-1","C","ENSG00000068784","ENST00000263736","Transcript","frameshift_variant","frameshift_variant","534-535/3667","485-486/2988","162/995","G/GX","gga/ggGa",null,null,-1,"SRBD1","HGNC","HGNC:25521","protein_coding","YES","CCDS1823.1","ENSP00000263736","Q8N5C6.141",null,"UPI000004CC06","Q8N5C6-1","NM_018079.5","NM_018079.5","P1",{"$nulls":3},"2024-04-21",{"$nulls":43},"HIGH",1,"insertion",2,{"$nulls":3},"GTACCTCCCCA","e0d13b98-2c51-4358-9c7d-1739eaf46fe6","6b9d8cb0-0553-4dbf-9e4e-d11e76ac3750","39fa91bd-dffd-4b2c-af7d-7fd914730b08",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["SQLE",6713,"BI","GRCh38","chr8",124999651,124999651,"+","Frame_Shift_Del","DEL","C","C","-","rs760774524",null,"TCGA-HU-A4H3","TCGA-HU-A4H3-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4217ee3-8720-46c6-86c4-981ce6377fa9","1f68952d-2c49-4562-815b-bab0dc54415a","c.254del","p.Pro85LeufsTer25","p.P85Lfs*25","ENST00000265896","2024-01-11",41,33,8,37,null,null,"SQLE,frameshift_variant,p.P85Lfs*25,ENST00000265896,NM_003129.4,c.254del,HIGH,YES,,,1;SQLE,intron_variant,,ENST00000521232,,c.-55-243del,MODIFIER,,,,1;SQLE,intron_variant,,ENST00000523430,,c.6+1052del,MODIFIER,,,,1;AC009908.1,upstream_gene_variant,,ENST00000523030,,,MODIFIER,YES,,,-1","-","ENSG00000104549","ENST00000265896","Transcript","frameshift_variant","frameshift_variant","1147/2962","248/1725","83/574","S/X","tCc/tc","rs760774524",null,1,"SQLE","HGNC","HGNC:11279","protein_coding","YES","CCDS47918.1","ENSP00000265896","Q14534.173",null,"UPI0000073EEE",null,"NM_003129.4","NM_003129.4","P1",{"$nulls":3},"2024-01-11",{"$nulls":10},"2.499e-05",0,0,0,"5.839e-05",0,"3.642e-05",0,"3.431e-05","5.839e-05","gnomAD_EAS",{"$nulls":22},"HIGH",1,"deletion",1,6,null,null,"CCAAATCCCCCC","e0d13b98-2c51-4358-9c7d-1739eaf46fe6","6b9d8cb0-0553-4dbf-9e4e-d11e76ac3750","39fa91bd-dffd-4b2c-af7d-7fd914730b08",null,"COSM3316516","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AL162417.1",0,"BI","GRCh38","chr9",133155930,133155930,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-HU-A4H3","TCGA-HU-A4H3-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4217ee3-8720-46c6-86c4-981ce6377fa9","1f68952d-2c49-4562-815b-bab0dc54415a","c.232G>A","p.Val78Ile","p.V78I","ENST00000647146","2024-05-23",116,82,34,132,null,null,"AL162417.1,missense_variant,p.V78I,ENST00000647146,,c.232G>A,MODERATE,YES,tolerated_low_confidence(0.28),benign(0.001),-1;GBGT1,missense_variant,p.V78I,ENST00000372038,,c.232G>A,MODERATE,,tolerated_low_confidence(0.19),benign(0.001),-1;GBGT1,synonymous_variant,p.Q65=,ENST00000470431,,c.195G>A,LOW,,,,-1;GBGT1,synonymous_variant,p.Q65=,ENST00000372040,NM_021996.6&NM_001288572.2,c.195G>A,LOW,YES,,,-1;GBGT1,synonymous_variant,p.Q65=,ENST00000372043,NM_001282629.2,c.195G>A,LOW,,,,-1;GBGT1,synonymous_variant,p.Q65=,ENST00000646215,,c.195G>A,LOW,,,,-1;GBGT1,synonymous_variant,p.Q48=,ENST00000540636,NM_001282632.2&NM_001288573.2,c.144G>A,LOW,,,,-1;GBGT1,downstream_gene_variant,,ENST00000372036,,,MODIFIER,,,,-1;GBGT1,downstream_gene_variant,,ENST00000644196,,,MODIFIER,,,,-1;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,,n.559G>A,MODIFIER,,,,-1","T","ENSG00000285245","ENST00000647146","Transcript","missense_variant","missense_variant","513/3705","232/2958","78/985","V/I","Gta/Ata","COSV64404374",null,-1,"AL162417.1","Clone_based_ensembl_gene",null,"protein_coding","YES",null,"ENSP00000493691",null,"A0A2R8Y471.9","UPI0002064E01",{"$nulls":3},"P1",null,"tolerated_low_confidence(0.28)","benign(0.001)","2024-05-23",{"$nulls":35},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"GGGTACTGTGA","e0d13b98-2c51-4358-9c7d-1739eaf46fe6","6b9d8cb0-0553-4dbf-9e4e-d11e76ac3750","39fa91bd-dffd-4b2c-af7d-7fd914730b08",null,"COSM3905251;COSM3905252","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DIDO1",11083,"BI","GRCh38","chr20",62879795,62879795,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-HU-A4H3","TCGA-HU-A4H3-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4217ee3-8720-46c6-86c4-981ce6377fa9","1f68952d-2c49-4562-815b-bab0dc54415a","c.6161C>T","p.Ala2054Val","p.A2054V","ENST00000266070","16/16",150,99,51,173,null,null,"DIDO1,missense_variant,p.A2054V,ENST00000266070,NM_033081.2,c.6161C>T,MODERATE,YES,tolerated(0.24),benign(0.001),-1;DIDO1,missense_variant,p.A2054V,ENST00000395343,NM_001193369.2,c.6161C>T,MODERATE,,tolerated(0.24),benign(0.001),-1","A","ENSG00000101191","ENST00000266070","Transcript","missense_variant","missense_variant","6517/8574","6161/6723","2054/2240","A/V","gCg/gTg","COSV56620013",null,-1,"DIDO1","HGNC","HGNC:2680","protein_coding","YES","CCDS33506.1","ENSP00000266070","Q9BTC0.186",null,"UPI0000206380","Q9BTC0-4","NM_033081.2",null,"P3",null,"tolerated(0.24)","benign(0.001)","16/16",null,"MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"CGGGCGCACTG","e0d13b98-2c51-4358-9c7d-1739eaf46fe6","6b9d8cb0-0553-4dbf-9e4e-d11e76ac3750","39fa91bd-dffd-4b2c-af7d-7fd914730b08",null,"COSM2931064","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAGEC1",9947,"BI","GRCh38","chrX",141908588,141908588,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-HU-A4H3","TCGA-HU-A4H3-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"d4217ee3-8720-46c6-86c4-981ce6377fa9","1f68952d-2c49-4562-815b-bab0dc54415a","c.3184T>C","p.Ser1062Pro","p.S1062P","ENST00000285879","2024-04-04",162,106,56,194,null,null,"MAGEC1,missense_variant,p.S1062P,ENST00000285879,NM_005462.5,c.3184T>C,MODERATE,YES,deleterious(0),benign(0.291),1;MAGEC1,missense_variant,p.S129P,ENST00000406005,,c.385T>C,MODERATE,,deleterious(0.01),benign(0.291),1","C","ENSG00000155495","ENST00000285879","Transcript","missense_variant","missense_variant","3470/4256","3184/3429","1062/1142","S/P","Tct/Cct","COSV53571565",null,1,"MAGEC1","HGNC","HGNC:6812","protein_coding","YES","CCDS35417.1","ENSP00000285879","O60732.142",null,"UPI000006F2FD","O60732-1","NM_005462.5","NM_005462.5","P4",null,"deleterious(0)","benign(0.291)","2024-04-04",null,"Gene3D:1.10.10.1210;Pfam:PF01454;PROSITE_profiles:PS50838;PANTHER:PTHR11736;PANTHER:PTHR11736:SF17;SMART:SM01373",{"$nulls":19},"9.20471029530745e-06",0,0,"9.589570254320279e-05",0,0,0,0,0,0,0,{"$nulls":3},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CCAACTCTTCT","e0d13b98-2c51-4358-9c7d-1739eaf46fe6","6b9d8cb0-0553-4dbf-9e4e-d11e76ac3750","39fa91bd-dffd-4b2c-af7d-7fd914730b08",null,"COSM4107194","N","Unknown",{"$nulls":3},"muse;varscan2"]
["AK9",221264,"BI","GRCh38","chr6",109550280,109550280,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-HU-A4GY","TCGA-HU-A4GY-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc","e153477b-f9d3-43e6-9dfc-40f1fd9f42ab","c.2774G>T","p.Arg925Ile","p.R925I","ENST00000424296","25/41",79,73,6,52,null,null,"AK9,missense_variant,p.R925I,ENST00000424296,NM_001145128.2,c.2774G>T,MODERATE,YES,deleterious(0.01),benign(0.033),-1;AK9,missense_variant,p.R4I,ENST00000355283,,c.11G>T,MODERATE,,deleterious(0),benign(0.116),-1;AK9,upstream_gene_variant,,ENST00000491875,,,MODIFIER,,,,-1;AK9,non_coding_transcript_exon_variant,,ENST00000466992,,n.1485G>T,MODIFIER,,,,-1","A","ENSG00000155085","ENST00000424296","Transcript","missense_variant","missense_variant","2851/6326","2774/5736","925/1911","R/I","aGa/aTa","COSV100393385;COSV58138579",null,-1,"AK9","HGNC","HGNC:33814","protein_coding","YES","CCDS55048.1","ENSP00000410186","Q5TCS8.144",null,"UPI0001A48FC8","Q5TCS8-4","NM_001145128.2",null,"P1",null,"deleterious(0.01)","benign(0.033)","25/41",null,"MobiDB_lite:mobidb-lite",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"1;1",1,"TCTTTCTCTCC","ea388cff-a839-4178-9b50-28d0726ed31b","6372ce63-5528-44b2-96fc-8906e2c9b7fa","41327aac-1228-435a-8de5-b26886bdbce0",null,"COSM1072047;COSM1072048;COSM1072049","N","Unknown",{"$nulls":3},"muse;mutect2"]
["DISP2",85455,"BI","GRCh38","chr15",40369194,40369194,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-FP-8099","TCGA-FP-8099-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"c3586481-ed72-4767-9679-09051e29f925","7cf5b9a5-a93c-4956-bb53-40d2cfea4994","c.3082C>A","p.Leu1028Ile","p.L1028I","ENST00000267889","2024-08-08",254,219,35,229,null,null,"DISP2,missense_variant,p.L1028I,ENST00000267889,NM_033510.3,c.3082C>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;DISP2,upstream_gene_variant,,ENST00000558623,,,MODIFIER,,,,1;DISP2,upstream_gene_variant,,ENST00000561261,,,MODIFIER,,,,1;DISP2,downstream_gene_variant,,ENST00000559721,,,MODIFIER,,,,1;AC013356.4,intron_variant,,ENST00000558421,,n.370+77G>T,MODIFIER,YES,,,-1","A","ENSG00000140323","ENST00000267889","Transcript","missense_variant","missense_variant","3185/12612","3082/4206","1028/1401","L/I","Ctc/Atc","COSV51130408",null,1,"DISP2","HGNC","HGNC:19712","protein_coding","YES","CCDS10056.1","ENSP00000267889","A7MBM2.88",null,"UPI0000160F9B",null,"NM_033510.3","NM_033510.3","P1",null,"deleterious(0)","probably_damaging(0.997)","2024-08-08",null,"PANTHER:PTHR45951;PANTHER:PTHR45951:SF2;Superfamily:SSF82866;Transmembrane_helices:TMhelix",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGGGCCTCTCA","2bc22133-9625-407a-bc5e-2f867a83f5ee","76d3cede-3a3d-4762-8b6d-9f3b41d35b1b","5956529e-f359-47c9-8222-0bd7f68c1e65",null,"COSM4054343","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PTCHD4",442213,"BI","GRCh38","chr6",48068281,48068281,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8588","TCGA-BR-8588-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"0fbb26a6-0430-47b7-8f85-9166e8b4130b","907aa997-170c-40e5-9e28-6d93395e5ae2","c.375G>T","p.Leu125Phe","p.L125F","ENST00000339488","2024-01-03",135,115,20,143,null,null,"PTCHD4,missense_variant,p.L125F,ENST00000398738,NM_207499.2,c.375G>T,MODERATE,,deleterious(0.01),probably_damaging(0.977),-1;PTCHD4,missense_variant,p.L125F,ENST00000339488,NM_001013732.3,c.375G>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.996),-1;AL353138.1,downstream_gene_variant,,ENST00000661865,,,MODIFIER,YES,,,-1","A","ENSG00000244694","ENST00000339488","Transcript","missense_variant","missense_variant","409/2850","375/2541","125/846","L/F","ttG/ttT","COSV59784004",null,-1,"PTCHD4","HGNC","HGNC:21345","protein_coding","YES","CCDS34473.2","ENSP00000341914","Q6ZW05.104",null,"UPI000179A8D3","Q6ZW05-1","NM_001013732.3",null,"P1",null,"deleterious(0.02)","probably_damaging(0.996)","2024-01-03",null,"PANTHER:PTHR10796;PANTHER:PTHR10796:SF15",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"TGGAGCAAAAT","5f6db8b4-e657-40c3-854c-4a16e87ac025","fa38519b-5754-40d1-a174-27be59327b79","ad73529b-92d7-412f-b001-920a61cec313",null,"COSM3353825;COSM3874613","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CHRM3",1131,"BI","GRCh38","chr1",239909144,239909145,"+","Frame_Shift_Del","DEL","AA","AA","-","novel",null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.1699_1700del","p.Lys567GlufsTer26","p.K567Efs*26","ENST00000255380","2024-05-05",94,74,20,111,null,null,"CHRM3,frameshift_variant,p.K567Efs*26,ENST00000676153,NM_001375982.1&NM_001347716.2&NM_001375978.1&NM_001375983.1&NM_001375979.1&NM_001375984.1&NM_001375981.1&NM_001375985.1&NM_001375980.1,c.1699_1700del,HIGH,YES,,,1;CHRM3,frameshift_variant,p.K567Efs*26,ENST00000255380,NM_000740.3,c.1699_1700del,HIGH,,,,1;CHRM3,frameshift_variant,p.K567Efs*26,ENST00000675184,,c.1699_1700del,HIGH,,,,1;CHRM3,frameshift_variant,p.K567Efs*26,ENST00000676433,,c.1699_1700del,HIGH,,,,1;CHRM3,frameshift_variant,p.K567Efs*26,ENST00000615928,,c.1699_1700del,HIGH,,,,1;CHRM3,downstream_gene_variant,,ENST00000448020,,,MODIFIER,,,,1;CHRM3,downstream_gene_variant,,ENST00000675709,,,MODIFIER,,,,1","-","ENSG00000133019","ENST00000255380","Transcript","frameshift_variant","frameshift_variant","2472-2473/8780","1693-1694/1773","565/590","K/X","AAa/a",null,null,1,"CHRM3","HGNC","HGNC:1952","protein_coding",null,"CCDS1616.1","ENSP00000255380","P20309.198","A0A024R3W1.3","UPI0000050453",null,"NM_000740.3",null,"P1",{"$nulls":3},"2024-05-05",null,"Gene3D:1.20.1070.10;PANTHER:PTHR24248;PANTHER:PTHR24248:SF153;Superfamily:SSF81321;Low_complexity_(Seg):seg",{"$nulls":19},"6.788960035919445e-06",0,0,0,0,0,0,0,"1.5465999240404926e-05",0,0,{"$nulls":11},"HIGH",null,"deletion",1,6,null,1,"TGTGACAAAAAAA","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PARD3B",117583,"BI","GRCh38","chr2",205125677,205125677,"+","Frame_Shift_Del","DEL","G","G","-","rs1296928742",null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.1378del","p.Glu460ArgfsTer19","p.E460Rfs*19","ENST00000406610","2024-10-23",160,127,33,209,null,null,"PARD3B,frameshift_variant,p.E460Rfs*19,ENST00000406610,NM_001302769.2,c.1378del,HIGH,YES,,,1;PARD3B,frameshift_variant,p.E386Rfs*25,ENST00000613457,,c.1156del,HIGH,,,,1;PARD3B,frameshift_variant,p.E386Rfs*19,ENST00000614500,,c.1156del,HIGH,,,,1;PARD3B,frameshift_variant,p.E386Rfs*19,ENST00000622699,,c.1156del,HIGH,,,,1;PARD3B,frameshift_variant,p.E460Rfs*25,ENST00000358768,NM_152526.6,c.1378del,HIGH,,,,1;PARD3B,frameshift_variant,p.E460Rfs*19,ENST00000351153,NM_057177.7,c.1378del,HIGH,,,,1;PARD3B,frameshift_variant,p.E460Rfs*19,ENST00000349953,NM_205863.4,c.1378del,HIGH,,,,1;PARD3B,frameshift_variant,p.E460Rfs*19,ENST00000462231,,c.1378del,HIGH,,,,1;PARD3B,downstream_gene_variant,,ENST00000489565,,,MODIFIER,,,,1","-","ENSG00000116117","ENST00000406610","Transcript","frameshift_variant","frameshift_variant","1899/8492","1374/3618","458/1205","Q/X","caG/ca","rs1296928742",null,1,"PARD3B","HGNC","HGNC:14446","protein_coding","YES","CCDS77511.1","ENSP00000385848","Q8TEW8.169",null,"UPI0000070178","Q8TEW8-1","NM_001302769.2","NM_001302769.2","P1",{"$nulls":3},"2024-10-23",null,"Gene3D:2.30.42.10;Pfam:PF00595;PANTHER:PTHR16484;PANTHER:PTHR16484:SF4;SMART:SM00228;Superfamily:SSF50156;CDD:cd00992",{"$nulls":19},"6.761139957234263e-06",0,0,0,0,0,0,0,"1.5430699932039715e-05",0,0,{"$nulls":11},"HIGH",1,"deletion",1,4,null,null,"CAAGCAGGGGGA","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["CYTH3",9265,"BI","GRCh38","chr7",6165804,6165804,"+","Missense_Mutation","SNP","C","C","T","rs750874462",null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.833G>A","p.Arg278His","p.R278H","ENST00000396741","2024-10-13",77,64,13,83,null,null,"CYTH3,missense_variant,p.R278H,ENST00000396741,,c.833G>A,MODERATE,YES,deleterious(0.02),benign(0.085),-1;CYTH3,missense_variant,p.R277H,ENST00000350796,NM_004227.4&NM_001367580.1&NM_001367581.1,c.830G>A,MODERATE,,deleterious(0),possibly_damaging(0.679),-1;USP42,downstream_gene_variant,,ENST00000306177,NM_032172.3&NM_001365764.1,,MODIFIER,YES,,,1;CYTH3,non_coding_transcript_exon_variant,,ENST00000488964,,n.536G>A,MODIFIER,,,,-1;CYTH3,non_coding_transcript_exon_variant,,ENST00000461891,,n.446G>A,MODIFIER,,,,-1;CYTH3,intron_variant,,ENST00000465320,,n.145-377G>A,MODIFIER,,,,-1;CYTH3,non_coding_transcript_exon_variant,,ENST00000495176,,n.432G>A,MODIFIER,,,,-1","T","ENSG00000008256","ENST00000396741","Transcript","missense_variant","missense_variant","970/4508","833/1203","278/400","R/H","cGt/cAt","rs750874462;COSV60358860",null,-1,"CYTH3","HGNC","HGNC:9504","protein_coding","YES",null,"ENSP00000379967","O43739.177",null,"UPI0000128C2A","O43739-1",null,null,"P1",null,"deleterious(0.02)","benign(0.085)","2024-10-13",null,"PDB-ENSP_mappings:4kax.B;PDB-ENSP_mappings:6u3e.A;PDB-ENSP_mappings:6u3e.B;PDB-ENSP_mappings:6u3g.A;PDB-ENSP_mappings:6u3g.B;Superfamily:SSF50729;SMART:SM00233;Gene3D:2.30.29.30;Pfam:PF00169;PANTHER:PTHR10663:SF320;PANTHER:PTHR10663;CDD:cd01252;PROSITE_profiles:PS50003",{"$nulls":8},"1.989e-05",0,0.0001157,0,0,0,"8.796e-06",0,0,0.0001157,"gnomAD_AMR","2.7047499315813184e-05","2.4319100702996366e-05",0,1.98754001758061E-4,0,0,0,0,0,0,0,1.98754001758061E-4,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"TCACACGCCCT","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,"COSM3881986;COSM3881987","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MUC5B",727897,"BI","GRCh38","chr11",1247234,1247234,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.10354G>A","p.Ala3452Thr","p.A3452T","ENST00000529681","31/49",80,68,12,105,null,null,"MUC5B,missense_variant,p.A3452T,ENST00000529681,NM_002458.3,c.10354G>A,MODERATE,YES,tolerated(0.14),benign(0.021),1;MUC5B-AS1,intron_variant,,ENST00000532061,,n.56+2387C>T,MODIFIER,YES,,,-1","A","ENSG00000117983","ENST00000529681","Transcript","missense_variant","missense_variant","10412/17911","10354/17289","3452/5762","A/T","Gcc/Acc","COSV71591787",null,1,"MUC5B","HGNC","HGNC:7516","protein_coding","YES","CCDS44515.2","ENSP00000436812","Q9HC84.170",null,"UPI0001DD21C7",null,"NM_002458.3","NM_002458.3","P1",null,"tolerated(0.14)","benign(0.021)","31/49",null,"PANTHER:PTHR11339;PANTHER:PTHR11339:SF269",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CCACGGCCACC","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,"COSM4019189;COSM4019190","N","Unknown",{"$nulls":3},"muse;mutect2"]
["IGHG1",3500,"BI","GRCh38","chr14",105741911,105741911,"+","Missense_Mutation","SNP","T","T","C","novel",null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.652A>G","p.Thr218Ala","p.T218A","ENST00000390549","2024-03-04",388,368,18,432,null,null,"IGHG1,missense_variant,p.T218A,ENST00000390548,,c.652A>G,MODERATE,YES,tolerated(0.06),benign(0.029),-1;IGHG1,missense_variant,p.T218A,ENST00000390549,,c.652A>G,MODERATE,,tolerated(0.09),benign(0.015),-1;IGHG1,missense_variant,p.T183A,ENST00000390542,,c.547A>G,MODERATE,,tolerated(0.09),benign(0.139),-1","C","ENSG00000211896","ENST00000390549","Transcript","missense_variant","missense_variant","652/1128","652/993","218/330","T/A","Acc/Gcc",null,null,-1,"IGHG1","HGNC","HGNC:5525","IG_C_gene",null,null,"ENSP00000374991","P01857.215",null,"UPI0000034C0E",{"$nulls":3},"A2","cds_start_NF","tolerated(0.09)","benign(0.015)","2024-03-04",null,"PDB-ENSP_mappings:1dn2.A;PDB-ENSP_mappings:1dn2.B;PDB-ENSP_mappings:1e4k.A;PDB-ENSP_mappings:1e4k.B;PDB-ENSP_mappings:1fc1.A;PDB-ENSP_mappings:1fc1.B;PDB-ENSP_mappings:1fc2.D;PDB-ENSP_mappings:1fcc.A;PDB-ENSP_mappings:1fcc.B;PDB-ENSP_mappings:1h3t.A;PDB-ENSP_mappings:1h3t.B;PDB-ENSP_mappings:1h3u.A;PDB-ENSP_mappings:1h3u.B;PDB-ENSP_mappings:1h3v.A;PDB-ENSP_mappings:1h3v.B;PDB-ENSP_mappings:1h3w.M;PDB-ENSP_mappings:1h3x.A;PDB-ENSP_mappings:1h3x.B;PDB-ENSP_mappings:1h3y.A;PDB-ENSP_mappings:1h3y.B;PDB-ENSP_mappings:1hzh.H;PDB-ENSP_mappings:1hzh.K;PDB-ENSP_mappings:1l6x.A;PDB-ENSP_mappings:1oqo.A;PDB-ENSP_mappings:1oqo.B;PDB-ENSP_mappings:1oqx.A;PDB-ENSP_mappings:1oqx.B;PDB-ENSP_mappings:1t83.A;PDB-ENSP_mappings:1t83.B;PDB-ENSP_mappings:1t89.A;PDB-ENSP_mappings:1t89.B;PDB-ENSP_mappings:2dts.A;PDB-ENSP_mappings:2dts.B;PDB-ENSP_mappings:2gj7.A;PDB-ENSP_mappings:2gj7.B;PDB-ENSP_mappings:2iwg.A;PDB-ENSP_mappings:2iwg.D;PDB-ENSP_mappings:2j6e.A;PDB-ENSP_mappings:2j6e.B;PDB-ENSP_mappings:2ql1.A;PDB-ENSP_mappings:2rcj.C;PDB-ENSP_mappings:2rcj.D;PDB-ENSP_mappings:2rcj.G;PDB-ENSP_mappings:2rcj.H;PDB-ENSP_mappings:2rcj.K;PDB-ENSP_mappings:2rcj.L;PDB-ENSP_mappings:2rcj.O;PDB-ENSP_mappings:2rcj.P;PDB-ENSP_mappings:2rcj.S;PDB-ENSP_mappings:2rcj.T;PDB-ENSP_mappings:2wah.A;PDB-ENSP_mappings:2wah.B;PDB-ENSP_mappings:3ave.A;PDB-ENSP_mappings:3ave.B;PDB-ENSP_mappings:3ay4.A;PDB-ENSP_mappings:3ay4.B;PDB-ENSP_mappings:3c2s.A;PDB-ENSP_mappings:3d6g.A;PDB-ENSP_mappings:3d6g.B;PDB-ENSP_mappings:3dj9.A;PDB-ENSP_mappings:3dnk.A;PDB-ENSP_mappings:3dnk.B;PDB-ENSP_mappings:3do3.A;PDB-ENSP_mappings:3do3.B;PDB-ENSP_mappings:3fjt.A;PDB-ENSP_mappings:3fjt.B;PDB-ENSP_mappings:3ry6.A;PDB-ENSP_mappings:3ry6.B;PDB-ENSP_mappings:3s7g.A;PDB-ENSP_mappings:3s7g.B;PDB-ENSP_mappings:3s7g.C;PDB-ENSP_mappings:3s7g.D;PDB-ENSP_mappings:3sgj.A;PDB-ENSP_mappings:3sgj.B;PDB-ENSP_mappings:3sgk.A;PDB-ENSP_mappings:3sgk.B;PDB-ENSP_mappings:3v7m.A;PDB-ENSP_mappings:3v8c.A;PDB-ENSP_mappings:3v8c.B;PDB-ENSP_mappings:3v95.A;PDB-ENSP_mappings:3v95.B;PDB-ENSP_mappings:3wjj.A;PDB-ENSP_mappings:3wjj.B;PDB-ENSP_mappings:3wjl.A;PDB-ENSP_mappings:3wjl.B;PDB-ENSP_mappings:3wkn.A;PDB-ENSP_mappings:3wkn.B;PDB-ENSP_mappings:3wkn.C;PDB-ENSP_mappings:3wkn.D;PDB-ENSP_mappings:3wkn.I;PDB-ENSP_mappings:3wkn.J;PDB-ENSP_mappings:3wkn.M;PDB-ENSP_mappings:3wkn.N;PDB-ENSP_mappings:3wn5.A;PDB-ENSP_mappings:3wn5.B;PDB-ENSP_mappings:3wn5.D;PDB-ENSP_mappings:3wn5.E;PDB-ENSP_mappings:4acp.A;PDB-ENSP_mappings:4acp.B;PDB-ENSP_mappings:4b7i.A;PDB-ENSP_mappings:4b7i.B;PDB-ENSP_mappings:4bm7.A;PDB-ENSP_mappings:4bm7.B;PDB-ENSP_mappings:4bsv.A;PDB-ENSP_mappings:4bsv.B;PDB-ENSP_mappings:4bsw.A;PDB-ENSP_mappings:4bsw.B;PDB-ENSP_mappings:4byh.A;PDB-ENSP_mappings:4byh.B;PDB-ENSP_mappings:4cdh.A;PDB-ENSP_mappings:4cdh.B;PDB-ENSP_mappings:4dz8.A;PDB-ENSP_mappings:4dz8.B;PDB-ENSP_mappings:4j12.A;PDB-ENSP_mappings:4ku1.A;PDB-ENSP_mappings:4ku1.B;PDB-ENSP_mappings:4n0u.E;PDB-ENSP_mappings:4nqs.A;PDB-ENSP_mappings:4nqs.B;PDB-ENSP_mappings:4nqs.G;PDB-ENSP_mappings:4nqs.H;PDB-ENSP_mappings:4nqt.A;PDB-ENSP_mappings:4nqu.A;PDB-ENSP_mappings:4q6y.A;PDB-ENSP_mappings:4q6y.B;PDB-ENSP_mappings:4q6y.C;PDB-ENSP_mappings:4q6y.D;PDB-ENSP_mappings:4q74.A;PDB-ENSP_mappings:4q74.B;PDB-ENSP_mappings:4q7d.A;PDB-ENSP_mappings:4q7d.B;PDB-ENSP_mappings:4w4n.A;PDB-ENSP_mappings:4w4n.B;PDB-ENSP_mappings:4w4o.A;PDB-ENSP_mappings:4w4o.B;PDB-ENSP_mappings:4wi2.A;PDB-ENSP_mappings:4wi2.B;PDB-ENSP_mappings:4wi3.A;PDB-ENSP_mappings:4wi3.B;PDB-ENSP_mappings:4wi4.A;PDB-ENSP_mappings:4wi4.B;PDB-ENSP_mappings:4wi5.A;PDB-ENSP_mappings:4wi5.B;PDB-ENSP_mappings:4wi6.A;PDB-ENSP_mappings:4wi6.B;PDB-ENSP_mappings:4wi7.A;PDB-ENSP_mappings:4wi7.B;PDB-ENSP_mappings:4wi8.A;PDB-ENSP_mappings:4wi8.B;PDB-ENSP_mappings:4wi9.A;PDB-ENSP_mappings:4wi9.B;PDB-ENSP_mappings:4x4m.A;PDB-ENSP_mappings:4x4m.B;PDB-ENSP_mappings:4x4m.C;PDB-ENSP_mappings:4x4m.D;PDB-ENSP_mappings:4x98.A;PDB-ENSP_mappings:4x98.B;PDB-ENSP_mappings:4x99.A;PDB-ENSP_mappings:4x99.B;PDB-ENSP_mappings:4zne.E;PDB-ENSP_mappings:4zne.J;PDB-ENSP_mappings:5bw7.A;PDB-ENSP_mappings:5bw7.B;PDB-ENSP_mappings:5d4q.A;PDB-ENSP_mappings:5d4q.B;PDB-ENSP_mappings:5d6d.A;PDB-ENSP_mappings:5d6d.B;PDB-ENSP_mappings:5di8.A;PDB-ENSP_mappings:5di8.B;PDB-ENSP_mappings:5dj0.A;PDB-ENSP_mappings:5dj0.B;PDB-ENSP_mappings:5dj2.A;PDB-ENSP_mappings:5dj2.B;PDB-ENSP_mappings:5dj6.A;PDB-ENSP_mappings:5dj6.B;PDB-ENSP_mappings:5dj8.A;PDB-ENSP_mappings:5dj8.B;PDB-ENSP_mappings:5dja.A;PDB-ENSP_mappings:5dja.B;PDB-ENSP_mappings:5djc.A;PDB-ENSP_mappings:5djc.B;PDB-ENSP_mappings:5djc.D;PDB-ENSP_mappings:5djc.E;PDB-ENSP_mappings:5djd.A;PDB-ENSP_mappings:5djd.B;PDB-ENSP_mappings:5djx.A;PDB-ENSP_mappings:5djx.B;PDB-ENSP_mappings:5djx.D;PDB-ENSP_mappings:5djx.E;PDB-ENSP_mappings:5djy.A;PDB-ENSP_mappings:5djy.B;PDB-ENSP_mappings:5djz.A;PDB-ENSP_mappings:5djz.B;PDB-ENSP_mappings:5dk0.A;PDB-ENSP_mappings:5dk0.B;PDB-ENSP_mappings:5dk2.A;PDB-ENSP_mappings:5dk2.B;PDB-ENSP_mappings:5dk2.D;PDB-ENSP_mappings:5dk2.E;PDB-ENSP_mappings:5dvk.A;PDB-ENSP_mappings:5dvl.A;PDB-ENSP_mappings:5dvm.A;PDB-ENSP_mappings:5dvn.A;PDB-ENSP_mappings:5dvo.A;PDB-ENSP_mappings:5dvo.B;PDB-ENSP_mappings:5gsq.A;PDB-ENSP_mappings:5gsq.B;PDB-ENSP_mappings:5gsq.C;PDB-ENSP_mappings:5gsq.D;PDB-ENSP_mappings:5hy9.A;PDB-ENSP_mappings:5hy9.B;PDB-ENSP_mappings:5hye.A;PDB-ENSP_mappings:5hye.C;PDB-ENSP_mappings:5hyf.A;PDB-ENSP_mappings:5hyi.A;PDB-ENSP_mappings:5hyi.B;PDB-ENSP_mappings:5hyi.C;PDB-ENSP_mappings:5hyi.D;PDB-ENSP_mappings:5iw3.A;PDB-ENSP_mappings:5iw6.A;PDB-ENSP_mappings:5iw6.B;PDB-ENSP_mappings:5jih.A;PDB-ENSP_mappings:5jih.B;PDB-ENSP_mappings:5jii.A;PDB-ENSP_mappings:5jii.B;PDB-ENSP_mappings:5jik.A;PDB-ENSP_mappings:5jik.B;PDB-ENSP_mappings:5k33.A;PDB-ENSP_mappings:5k8d.B;PDB-ENSP_mappings:5kwg.A;PDB-ENSP_mappings:5m3v.A;PDB-ENSP_mappings:5m3v.B;PDB-ENSP_mappings:5tps.A;PDB-ENSP_mappings:5tps.B;PDB-ENSP_mappings:5u4y.A;PDB-ENSP_mappings:5u4y.B;PDB-ENSP_mappings:5u52.A;PDB-ENSP_mappings:5u52.B;PDB-ENSP_mappings:5u66.A;PDB-ENSP_mappings:5v43.A;PDB-ENSP_mappings:5v43.B;PDB-ENSP_mappings:5v4e.A;PDB-ENSP_mappings:5v4e.B;PDB-ENSP_mappings:5v4e.C;PDB-ENSP_mappings:5v4e.D;PDB-ENSP_mappings:5v4e.E;PDB-ENSP_mappings:5v4e.F;PDB-ENSP_mappings:5v4e.G;PDB-ENSP_mappings:5v4e.H;PDB-ENSP_mappings:6f2z.A;PDB-ENSP_mappings:6f2z.B",{"$nulls":41},"MODERATE",null,"SNV",{"$nulls":3},1,"GATGGTTTTCT","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["CBLN2",147381,"BI","GRCh38","chr18",72541940,72541940,"+","Missense_Mutation","SNP","G","G","A","rs1281951081",null,"TCGA-BR-4368","TCGA-BR-4368-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"0f320a44-6403-4052-a943-34da7c12efd4","c4eb03db-0517-4ea5-af47-2b5bd1dc43af","c.221C>T","p.Ala74Val","p.A74V","ENST00000269503","2024-03-05",24,17,6,40,null,null,"CBLN2,missense_variant,p.A74V,ENST00000269503,NM_182511.4,c.221C>T,MODERATE,YES,deleterious(0.04),benign(0.148),-1;CBLN2,missense_variant,p.A74V,ENST00000585159,,c.221C>T,MODERATE,,deleterious(0.04),benign(0.148),-1;CBLN2,intron_variant,,ENST00000581073,,c.16-3168C>T,MODIFIER,,,,-1;CBLN2,intron_variant,,ENST00000584764,,c.9+1546C>T,MODIFIER,,,,-1;CBLN2,intron_variant,,ENST00000583651,,n.248+1042C>T,MODIFIER,,,,-1;CBLN2,downstream_gene_variant,,ENST00000580889,,,MODIFIER,,,,-1;CBLN2,upstream_gene_variant,,ENST00000581425,,,MODIFIER,,,,-1","A","ENSG00000141668","ENST00000269503","Transcript","missense_variant","missense_variant","798/2747","221/675","74/224","A/V","gCg/gTg","rs1281951081;COSV54050115",null,-1,"CBLN2","HGNC","HGNC:1544","protein_coding","YES","CCDS11999.1","ENSP00000269503","Q8IUK8.123","A0A024R380.47","UPI0000032E73",null,"NM_182511.4","NM_182511.4","P1",null,"deleterious(0.04)","benign(0.148)","2024-03-05",null,"PANTHER:PTHR22923;PANTHER:PTHR22923:SF50",{"$nulls":19},"6.759680218237918e-06",0,0,0,0,0,0,0,"1.5431100109708495e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CGTCCGCCGAC","fe78e873-f79f-4667-a254-31e2cb663fcc","a7732cc1-fa5b-45f4-a00c-a38ec5a0c684","449bf2be-b20e-4ad0-9ffb-910d83114018",null,"COSM1389628","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAM186B",84070,"BI","GRCh38","chr12",49599724,49599724,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-CG-4462","TCGA-CG-4462-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"77e84522-a623-4c24-b486-1f3aaea36714","fbcc8c24-1ed2-469f-ad78-e1fa8555d067","c.1916G>A","p.Gly639Glu","p.G639E","ENST00000257894","2024-04-07",198,179,19,170,null,null,"FAM186B,missense_variant,p.G639E,ENST00000257894,NM_032130.3,c.1916G>A,MODERATE,YES,deleterious(0.05),possibly_damaging(0.866),-1;FAM186B,missense_variant,p.G252E,ENST00000532262,,c.755G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.866),-1;FAM186B,intron_variant,,ENST00000551047,,c.633+1283G>A,MODIFIER,,,,-1;PRPF40B,intron_variant,,ENST00000551063,,c.-161-22913C>T,MODIFIER,,,,1;FAM186B,upstream_gene_variant,,ENST00000548841,,,MODIFIER,,,,-1;PRPF40B,intron_variant,,ENST00000527253,,n.188-4453C>T,MODIFIER,,,,1;PRPF40B,intron_variant,,ENST00000547764,,n.489-104C>T,MODIFIER,,,,1;PRPF40B,upstream_gene_variant,,ENST00000508736,,,MODIFIER,,,,1;FAM186B,3_prime_UTR_variant,,ENST00000533372,,c.*1922G>A,MODIFIER,,,,-1;AC020612.1,downstream_gene_variant,,ENST00000547655,,,MODIFIER,YES,,,1","T","ENSG00000135436","ENST00000257894","Transcript","missense_variant","missense_variant","2078/2944","1916/2682","639/893","G/E","gGg/gAg","COSV57722112",null,-1,"FAM186B","HGNC","HGNC:25296","protein_coding","YES","CCDS8788.1","ENSP00000257894","Q8IYM0.121","A0A024R129.45","UPI000007077C","Q8IYM0-1","NM_032130.3","NM_032130.3","P2",null,"deleterious(0.05)","possibly_damaging(0.866)","2024-04-07",null,"PANTHER:PTHR33590;PANTHER:PTHR33590:SF3",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGTCCCAGTG","0867ebb7-5c08-4a86-b4bd-2065fff76d8d","809070be-11d4-461c-88dd-48b7e71610ed","e9ea3687-0db3-47f3-8099-b4fc054397f1",null,"COSM4042495;COSM4042496","N","Unknown",{"$nulls":3},"muse;mutect2"]
["TP53",7157,"BI","GRCh38","chr17",7673776,7673776,"+","Missense_Mutation","SNP","G","G","A","rs28934574",null,"TCGA-BR-8077","TCGA-BR-8077-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"141af187-b767-4e25-8b46-dfa8618b1794","4ff305bd-6a6a-4583-a89c-ddab140a042d","c.844C>T","p.Arg282Trp","p.R282W","ENST00000269305","2024-08-11",34,11,23,64,null,null,"TP53,missense_variant,p.R282W,ENST00000420246,,c.844C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TP53,missense_variant,p.R243W,ENST00000622645,NM_001126114.2&NM_001276696.2,c.727C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TP53,missense_variant,p.R243W,ENST00000610292,NM_001126118.1,c.727C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R282W,ENST00000455263,NM_001126113.2&NM_001276695.2,c.844C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TP53,missense_variant,p.R243W,ENST00000610538,,c.727C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TP53,missense_variant,p.R243W,ENST00000620739,,c.727C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R282W,ENST00000269305,NM_000546.6,c.844C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R282W,ENST00000445888,NM_001126112.2&NM_001276761.2&NM_001276760.2,c.844C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R243W,ENST00000619485,,c.727C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R150W,ENST00000510385,NM_001126116.1&NM_001276698.2,c.448C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TP53,missense_variant,p.R123W,ENST00000618944,,c.367C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TP53,missense_variant,p.R150W,ENST00000504290,,c.448C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TP53,missense_variant,p.R123W,ENST00000610623,NM_001126117.1&NM_001276699.2,c.367C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TP53,missense_variant,p.R150W,ENST00000504937,,c.448C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R123W,ENST00000619186,NM_001126115.1&NM_001276697.2,c.367C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,missense_variant,p.R282W,ENST00000359597,,c.844C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TP53,missense_variant,p.R150W,ENST00000509690,,c.448C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,intron_variant,,ENST00000413465,,c.782+405C>T,MODIFIER,,,,-1;TP53,downstream_gene_variant,,ENST00000503591,,,MODIFIER,,,,-1;TP53,downstream_gene_variant,,ENST00000508793,,,MODIFIER,,,,-1;TP53,downstream_gene_variant,,ENST00000514944,,,MODIFIER,,,,-1;TP53,upstream_gene_variant,,ENST00000576024,,,MODIFIER,,,,-1;TP53,downstream_gene_variant,,ENST00000604348,,,MODIFIER,,,,-1;TP53,downstream_gene_variant,,ENST00000574684,,,MODIFIER,,,,-1;TP53,missense_variant,p.R243W,ENST00000635293,,c.727C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;TP53,downstream_gene_variant,,ENST00000505014,,,MODIFIER,,,,-1","A","ENSG00000141510","ENST00000269305","Transcript","missense_variant","missense_variant","986/2512","844/1182","282/393","R/W","Cgg/Tgg","rs28934574;CM056413;CM920678;COSV52662048;COSV52662222;COSV52701296",null,-1,"TP53","HGNC","HGNC:11998","protein_coding","YES","CCDS11118.1","ENSP00000269305","P04637.285","K7PPA8.70","UPI000002ED67","P04637-1","NM_000546.6","NM_000546.6","P1",null,"deleterious(0)","probably_damaging(1)","2024-08-11",null,"PDB-ENSP_mappings:1gzh.A;PDB-ENSP_mappings:1gzh.C;PDB-ENSP_mappings:1kzy.A;PDB-ENSP_mappings:1kzy.B;PDB-ENSP_mappings:1tsr.A;PDB-ENSP_mappings:1tsr.B;PDB-ENSP_mappings:1tsr.C;PDB-ENSP_mappings:1tup.A;PDB-ENSP_mappings:1tup.B;PDB-ENSP_mappings:1tup.C;PDB-ENSP_mappings:1uol.A;PDB-ENSP_mappings:1uol.B;PDB-ENSP_mappings:1ycs.A;Gene3D:2.60.40.720;PDB-ENSP_mappings:2ac0.A;PDB-ENSP_mappings:2ac0.B;PDB-ENSP_mappings:2ac0.C;PDB-ENSP_mappings:2ac0.D;PDB-ENSP_mappings:2ady.A;PDB-ENSP_mappings:2ady.B;PDB-ENSP_mappings:2ahi.A;PDB-ENSP_mappings:2ahi.B;PDB-ENSP_mappings:2ahi.C;PDB-ENSP_mappings:2ahi.D;PDB-ENSP_mappings:2ata.A;PDB-ENSP_mappings:2ata.B;PDB-ENSP_mappings:2ata.C;PDB-ENSP_mappings:2ata.D;PDB-ENSP_mappings:2bim.A;PDB-ENSP_mappings:2bim.B;PDB-ENSP_mappings:2bin.A;PDB-ENSP_mappings:2bio.A;PDB-ENSP_mappings:2bip.A;PDB-ENSP_mappings:2biq.A;PDB-ENSP_mappings:2fej.A;PDB-ENSP_mappings:2h1l.M;PDB-ENSP_mappings:2h1l.N;PDB-ENSP_mappings:2h1l.O;PDB-ENSP_mappings:2h1l.P;PDB-ENSP_mappings:2h1l.Q;PDB-ENSP_mappings:2h1l.R;PDB-ENSP_mappings:2h1l.S;PDB-ENSP_mappings:2h1l.T;PDB-ENSP_mappings:2h1l.U;PDB-ENSP_mappings:2h1l.V;PDB-ENSP_mappings:2h1l.W;PDB-ENSP_mappings:2h1l.X;PDB-ENSP_mappings:2j1w.A;PDB-ENSP_mappings:2j1w.B;PDB-ENSP_mappings:2j1x.A;PDB-ENSP_mappings:2j1x.B;PDB-ENSP_mappings:2j1y.A;PDB-ENSP_mappings:2j1y.B;PDB-ENSP_mappings:2j1y.C;PDB-ENSP_mappings:2j1y.D;PDB-ENSP_mappings:2j1z.A;PDB-ENSP_mappings:2j1z.B;PDB-ENSP_mappings:2j20.A;PDB-ENSP_mappings:2j20.B;PDB-ENSP_mappings:2j21.A;PDB-ENSP_mappings:2j21.B;PDB-ENSP_mappings:2mej.B;PDB-ENSP_mappings:2ocj.A;PDB-ENSP_mappings:2ocj.B;PDB-ENSP_mappings:2ocj.C;PDB-ENSP_mappings:2ocj.D;PDB-ENSP_mappings:2pcx.A;PDB-ENSP_mappings:2vuk.A;PDB-ENSP_mappings:2vuk.B;PDB-ENSP_mappings:2wgx.A;PDB-ENSP_mappings:2wgx.B;PDB-ENSP_mappings:2x0u.A;PDB-ENSP_mappings:2x0u.B;PDB-ENSP_mappings:2x0v.A;PDB-ENSP_mappings:2x0v.B;PDB-ENSP_mappings:2x0w.A;PDB-ENSP_mappings:2x0w.B;PDB-ENSP_mappings:2xwr.A;PDB-ENSP_mappings:2xwr.B;PDB-ENSP_mappings:2ybg.A;PDB-ENSP_mappings:2ybg.B;PDB-ENSP_mappings:2ybg.C;PDB-ENSP_mappings:2ybg.D;PDB-ENSP_mappings:3d05.A;PDB-ENSP_mappings:3d06.A;PDB-ENSP_mappings:3d07.A;PDB-ENSP_mappings:3d07.B;PDB-ENSP_mappings:3d08.A;PDB-ENSP_mappings:3d09.A;PDB-ENSP_mappings:3d0a.A;PDB-ENSP_mappings:3d0a.B;PDB-ENSP_mappings:3d0a.C;PDB-ENSP_mappings:3d0a.D;PDB-ENSP_mappings:3igk.A;PDB-ENSP_mappings:3igl.A;PDB-ENSP_mappings:3kmd.A;PDB-ENSP_mappings:3kmd.B;PDB-ENSP_mappings:3kmd.C;PDB-ENSP_mappings:3kmd.D;PDB-ENSP_mappings:3kz8.A;PDB-ENSP_mappings:3kz8.B;PDB-ENSP_mappings:3q01.A;PDB-ENSP_mappings:3q01.B;PDB-ENSP_mappings:3q05.A;PDB-ENSP_mappings:3q05.B;PDB-ENSP_mappings:3q05.C;PDB-ENSP_mappings:3q05.D;PDB-ENSP_mappings:3q06.A;PDB-ENSP_mappings:3q06.B;PDB-ENSP_mappings:3q06.C;PDB-ENSP_mappings:3q06.D;PDB-ENSP_mappings:3ts8.A;PDB-ENSP_mappings:3ts8.B;PDB-ENSP_mappings:3ts8.C;PDB-ENSP_mappings:3ts8.D;PDB-ENSP_mappings:3zme.A;PDB-ENSP_mappings:3zme.B;PDB-ENSP_mappings:4agl.A;PDB-ENSP_mappings:4agl.B;PDB-ENSP_mappings:4agm.A;PDB-ENSP_mappings:4agm.B;PDB-ENSP_mappings:4agn.A;PDB-ENSP_mappings:4agn.B;PDB-ENSP_mappings:4ago.A;PDB-ENSP_mappings:4ago.B;PDB-ENSP_mappings:4agp.A;PDB-ENSP_mappings:4agp.B;PDB-ENSP_mappings:4agq.A;PDB-ENSP_mappings:4agq.B;PDB-ENSP_mappings:4hje.A;PDB-ENSP_mappings:4hje.B;PDB-ENSP_mappings:4hje.C;PDB-ENSP_mappings:4hje.D;PDB-ENSP_mappings:4ibq.A;PDB-ENSP_mappings:4ibq.B;PDB-ENSP_mappings:4ibq.C;PDB-ENSP_mappings:4ibq.D;PDB-ENSP_mappings:4ibs.A;PDB-ENSP_mappings:4ibs.B;PDB-ENSP_mappings:4ibs.C;PDB-ENSP_mappings:4ibs.D;PDB-ENSP_mappings:4ibt.A;PDB-ENSP_mappings:4ibt.B;PDB-ENSP_mappings:4ibt.C;PDB-ENSP_mappings:4ibt.D;PDB-ENSP_mappings:4ibu.A;PDB-ENSP_mappings:4ibu.B;PDB-ENSP_mappings:4ibu.C;PDB-ENSP_mappings:4ibu.D;PDB-ENSP_mappings:4ibv.A;PDB-ENSP_mappings:4ibw.A;PDB-ENSP_mappings:4iby.A;PDB-ENSP_mappings:4iby.B;PDB-ENSP_mappings:4ibz.A;PDB-ENSP_mappings:4ibz.B;PDB-ENSP_mappings:4ibz.C;PDB-ENSP_mappings:4ibz.D;PDB-ENSP_mappings:4ijt.A;PDB-ENSP_mappings:4kvp.A;PDB-ENSP_mappings:4kvp.B;PDB-ENSP_mappings:4kvp.C;PDB-ENSP_mappings:4kvp.D;PDB-ENSP_mappings:4lo9.A;PDB-ENSP_mappings:4lo9.B;PDB-ENSP_mappings:4lo9.C;PDB-ENSP_mappings:4lo9.D;PDB-ENSP_mappings:4loe.A;PDB-ENSP_mappings:4loe.B;PDB-ENSP_mappings:4loe.C;PDB-ENSP_mappings:4loe.D;PDB-ENSP_mappings:4lof.A;PDB-ENSP_mappings:4mzi.A;PDB-ENSP_mappings:4mzr.A;PDB-ENSP_mappings:4mzr.B;PDB-ENSP_mappings:4mzr.C;PDB-ENSP_mappings:4mzr.D;PDB-ENSP_mappings:4qo1.B;PDB-ENSP_mappings:4xr8.C;PDB-ENSP_mappings:4xr8.D;PDB-ENSP_mappings:5a7b.A;PDB-ENSP_mappings:5a7b.B;PDB-ENSP_mappings:5ab9.A;PDB-ENSP_mappings:5ab9.B;PDB-ENSP_mappings:5aba.A;PDB-ENSP_mappings:5aba.B;PDB-ENSP_mappings:5aoi.A;PDB-ENSP_mappings:5aoi.B;PDB-ENSP_mappings:5aoj.A;PDB-ENSP_mappings:5aoj.B;PDB-ENSP_mappings:5aok.A;PDB-ENSP_mappings:5aok.B;PDB-ENSP_mappings:5aol.A;PDB-ENSP_mappings:5aol.B;PDB-ENSP_mappings:5aom.A;PDB-ENSP_mappings:5aom.B;PDB-ENSP_mappings:5bua.A;PDB-ENSP_mappings:5ecg.A;PDB-ENSP_mappings:5ecg.B;PDB-ENSP_mappings:5g4m.A;PDB-ENSP_mappings:5g4m.B;PDB-ENSP_mappings:5g4n.A;PDB-ENSP_mappings:5g4n.B;PDB-ENSP_mappings:5g4o.A;PDB-ENSP_mappings:5g4o.B;PDB-ENSP_mappings:5lap.A;PDB-ENSP_mappings:5lap.B;PDB-ENSP_mappings:5lgy.A;PDB-ENSP_mappings:5lgy.B;PDB-ENSP_mappings:5lgy.C;PDB-ENSP_mappings:5lgy.D;PDB-ENSP_mappings:5mct.A;PDB-ENSP_mappings:5mct.B;PDB-ENSP_mappings:5mcu.A;PDB-ENSP_mappings:5mcu.B;PDB-ENSP_mappings:5mcv.A;PDB-ENSP_mappings:5mcv.B;PDB-ENSP_mappings:5mcw.A;PDB-ENSP_mappings:5mcw.B;PDB-ENSP_mappings:5mf7.A;PDB-ENSP_mappings:5mf7.B;PDB-ENSP_mappings:5mg7.A;PDB-ENSP_mappings:5mg7.B;PDB-ENSP_mappings:5o1a.A;PDB-ENSP_mappings:5o1a.B;PDB-ENSP_mappings:5o1b.A;PDB-ENSP_mappings:5o1b.B;PDB-ENSP_mappings:5o1c.A;PDB-ENSP_mappings:5o1c.B;PDB-ENSP_mappings:5o1d.A;PDB-ENSP_mappings:5o1d.B;PDB-ENSP_mappings:5o1e.A;PDB-ENSP_mappings:5o1e.B;PDB-ENSP_mappings:5o1f.A;PDB-ENSP_mappings:5o1f.B;PDB-ENSP_mappings:5o1g.A;PDB-ENSP_mappings:5o1g.B;PDB-ENSP_mappings:5o1h.A;PDB-ENSP_mappings:5o1h.B;PDB-ENSP_mappings:5o1i.A;PDB-ENSP_mappings:5o1i.B;PDB-ENSP_mappings:5xzc.B;PDB-ENSP_mappings:5xzc.C;PDB-ENSP_mappings:5xzc.D;PDB-ENSP_mappings:5xzc.E;PDB-ENSP_mappings:6ff9.A;PDB-ENSP_mappings:6ff9.B;PDB-ENSP_mappings:6ff9.C;PDB-ENSP_mappings:6ff9.D;PDB-ENSP_mappings:6fj5.A;PDB-ENSP_mappings:6fj5.B;PDB-ENSP_mappings:6fj5.C;PDB-ENSP_mappings:6fj5.D;PDB-ENSP_mappings:6gga.A;PDB-ENSP_mappings:6gga.B;PDB-ENSP_mappings:6ggb.A;PDB-ENSP_mappings:6ggb.B;PDB-ENSP_mappings:6ggc.A;PDB-ENSP_mappings:6ggc.B;PDB-ENSP_mappings:6ggd.A;PDB-ENSP_mappings:6ggd.B;PDB-ENSP_mappings:6gge.A;PDB-ENSP_mappings:6gge.B;PDB-ENSP_mappings:6ggf.A;PDB-ENSP_mappings:6ggf.B;PDB-ENSP_mappings:6rz3.A;PDB-ENSP_mappings:6shz.A;PDB-ENSP_mappings:6shz.B;PDB-ENSP_mappings:6si0.A;PDB-ENSP_mappings:6si0.B;PDB-ENSP_mappings:6si1.A;PDB-ENSP_mappings:6si1.B;PDB-ENSP_mappings:6si2.A;PDB-ENSP_mappings:6si2.B;PDB-ENSP_mappings:6si3.A;PDB-ENSP_mappings:6si3.B;PDB-ENSP_mappings:6si4.A;PDB-ENSP_mappings:6si4.B;PDB-ENSP_mappings:6sl6.A;Pfam:PF00870;Prints:PR00386;PANTHER:PTHR11447;PANTHER:PTHR11447:SF6;Superfamily:SSF49417;CDD:cd08367;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":6},0,0.0002326,"3.978e-06",0,0,0,0,0,"8.793e-06",0,0,0.0002326,"EA","6.7674600359168835e-06",0,0,0,0,0,0,0,"1.543260077596642e-05",0,0,null,null,"pathogenic;likely_pathogenic;pathogenic/likely_pathogenic","0;0;0;1;1;1","26845104;26900293;26619011;30867801;25105660;25925845;1565143;17606709;23161690;8401536;1349175;1565144;8718514;8829627;11370630;19012332;19468865;21059199;21305319;21761402;25584008;25619955;26878390;28683819",{"$nulls":6},"MODERATE",1,"SNV",1,null,"1;1;1;1;1;1",1,"GCGCCGGTCTC","a15b3dda-8414-478f-9508-9d20d9bb6610","17a90052-9bb5-44ed-a753-780ce073bb76","faed873e-a019-49c0-95a9-e9880fc23093",null,"COSM10704;COSM1636702;COSM3378339;COSM99925","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF677",342926,"BI","GRCh38","chr19",53237562,53237562,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-VQ-A8PJ","TCGA-VQ-A8PJ-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"8549fa13-7f8f-4f3a-87e6-2550d821c85c","20bc160c-d867-4ea2-a32a-9e5932b402f8","c.1165A>C","p.Ser389Arg","p.S389R","ENST00000333952","2024-03-03",68,58,10,76,null,null,"ZNF677,missense_variant,p.S389R,ENST00000598513,NM_182609.3&NM_001317998.1,c.1165A>C,MODERATE,YES,tolerated(0.15),possibly_damaging(0.717),-1;ZNF677,missense_variant,p.S389R,ENST00000333952,,c.1165A>C,MODERATE,,tolerated(0.15),possibly_damaging(0.717),-1;ZNF677,downstream_gene_variant,,ENST00000594517,,,MODIFIER,,,,-1;ZNF677,downstream_gene_variant,,ENST00000594681,,,MODIFIER,,,,-1;ZNF677,downstream_gene_variant,,ENST00000598806,,,MODIFIER,,,,-1;ZNF677,downstream_gene_variant,,ENST00000599012,,,MODIFIER,,,,-1;ZNF677,downstream_gene_variant,,ENST00000593539,,,MODIFIER,,,,-1;ZNF677,downstream_gene_variant,,ENST00000599328,,,MODIFIER,,,,-1;AC092070.3,upstream_gene_variant,,ENST00000596041,,,MODIFIER,YES,,,1","G","ENSG00000197928","ENST00000333952","Transcript","missense_variant","missense_variant","1245/3422","1165/1755","389/584","S/R","Agc/Cgc","COSV100448184",null,-1,"ZNF677","HGNC","HGNC:28730","protein_coding",null,"CCDS12861.1","ENSP00000334394","Q86XU0.142",null,"UPI000017DF85",{"$nulls":3},"P1",null,"tolerated(0.15)","possibly_damaging(0.717)","2024-03-03",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24377;PANTHER:PTHR24377:SF698;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"AAGGCTTGAAC","45eaeb03-d253-497f-bc4f-8b3143947132","e22993f9-4bfc-41e1-9299-07e48e3d5fda","0cd4b4a2-d3ce-4fc4-b899-bbcecb2b3d55",null,null,"N","Unknown",{"$nulls":3},"muse;varscan2"]
["ANKRD12",23253,"BI","GRCh38","chr18",9211715,9211715,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-HU-8243","TCGA-HU-8243-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"9635cfd4-3d26-4fc6-846c-fd74d5b60098","a711abd1-f1c2-4e42-8b66-79b4514ac1c4","c.583C>G","p.Arg195Gly","p.R195G","ENST00000262126","2024-06-13",103,93,10,141,null,null,"ANKRD12,missense_variant,p.R195G,ENST00000262126,NM_015208.5,c.583C>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;ANKRD12,missense_variant,p.R172G,ENST00000400020,NM_001083625.3&NM_001204056.1,c.514C>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;ANKRD12,missense_variant,p.R170G,ENST00000546007,,c.508C>G,MODERATE,,deleterious(0),probably_damaging(0.968),1;ANKRD12,non_coding_transcript_exon_variant,,ENST00000540578,,n.795C>G,MODIFIER,,,,1;ANKRD12,downstream_gene_variant,,ENST00000581758,,,MODIFIER,,,,1;ANKRD12,downstream_gene_variant,,ENST00000581635,,,MODIFIER,,,,1;AP005263.1,intron_variant,,ENST00000578850,,n.63-42496C>G,MODIFIER,,,,1","G","ENSG00000101745","ENST00000262126","Transcript","missense_variant","missense_variant","819/11284","583/6189","195/2062","R/G","Cga/Gga","COSV50819411;COSV50821436",null,1,"ANKRD12","HGNC","HGNC:29135","protein_coding","YES","CCDS11843.1","ENSP00000262126","Q6UB98.141",null,"UPI0000073327","Q6UB98-1","NM_015208.5","NM_015208.5","P4",null,"deleterious(0)","probably_damaging(0.999)","2024-06-13",null,"Gene3D:1.25.40.20;Pfam:PF12796;Prints:PR01415;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;PANTHER:PTHR24149;SMART:SM00248;Superfamily:SSF48403",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"CTATTCGAGGA","3cb6935f-1c64-4f0b-b45d-2df33be39cbd","5d11ab06-42f3-46ba-809a-ee6219c62c59","77a8eab6-f6a1-4739-9031-75ead40d68cb",null,"COSM4073649","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CACNA1E",777,"BI","GRCh38","chr1",181798542,181798542,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-AA6D","TCGA-VQ-AA6D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"6e074d86-f6ca-4914-ab95-fbefb6e97a63","73264b63-efd3-4370-9d81-144c6f16c5ee","c.6650A>G","p.Gln2217Arg","p.Q2217R","ENST00000367573","48/48",60,52,8,64,null,null,"CACNA1E,missense_variant,p.Q2217R,ENST00000367573,NM_001205293.3,c.6650A>G,MODERATE,YES,tolerated(0.52),benign(0.003),1;CACNA1E,missense_variant,p.Q2155R,ENST00000621791,NM_001205294.2,c.6464A>G,MODERATE,,tolerated(0.52),benign(0.006),1;CACNA1E,missense_variant,p.Q2217R,ENST00000621551,,c.6650A>G,MODERATE,,tolerated(0.52),benign(0.003),1;CACNA1E,missense_variant,p.Q2174R,ENST00000367567,,c.6521A>G,MODERATE,,tolerated(0.52),benign(0.003),1;CACNA1E,missense_variant,p.Q2155R,ENST00000358338,,c.6464A>G,MODERATE,,tolerated(0.52),benign(0.006),1;CACNA1E,missense_variant,p.Q2174R,ENST00000367570,NM_000721.4,c.6521A>G,MODERATE,,tolerated(0.52),benign(0.003),1;CACNA1E,missense_variant,p.Q2216R,ENST00000357570,,c.6647A>G,MODERATE,,tolerated(0.52),benign(0),1;CACNA1E,missense_variant,p.Q2198R,ENST00000360108,,c.6593A>G,MODERATE,,tolerated(0.52),benign(0.009),1","G","ENSG00000198216","ENST00000367573","Transcript","missense_variant","missense_variant","6878/16420","6650/6942","2217/2313","Q/R","cAg/cGg","COSV100703826",null,1,"CACNA1E","HGNC","HGNC:1392","protein_coding","YES","CCDS55664.1","ENSP00000356545","Q15878.189",null,"UPI00004588C2","Q15878-1","NM_001205293.3","NM_001205293.3","P4",null,"tolerated(0.52)","benign(0.003)","48/48",null,"PANTHER:PTHR45628;PANTHER:PTHR45628:SF5;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CCCCCAGCAGA","a7e87f02-6b1b-457c-af83-d82167cff18e","bcfa0c7f-95d4-4691-b402-7bb73ee3bf85","5779f7a7-05d7-4972-bd4f-aacb32420510",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FOLR3",2352,"BI","GRCh38","chr11",72136044,72136044,"+","Missense_Mutation","SNP","C","C","T","rs371010355",null,"TCGA-VQ-AA6D","TCGA-VQ-AA6D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"6e074d86-f6ca-4914-ab95-fbefb6e97a63","73264b63-efd3-4370-9d81-144c6f16c5ee","c.92C>T","p.Thr31Met","p.T31M","ENST00000611028","2024-02-05",162,119,43,161,null,null,"FOLR3,missense_variant,p.T31M,ENST00000611028,NM_001318045.2&NM_000804.4,c.92C>T,MODERATE,YES,tolerated(0.12),benign(0.202),1;FOLR3,missense_variant,p.T29M,ENST00000442948,,c.86C>T,MODERATE,,tolerated(0.11),benign(0.097),1;FOLR3,missense_variant,p.T31M,ENST00000622388,,c.92C>T,MODERATE,,tolerated(0.13),possibly_damaging(0.574),1;FOLR3,missense_variant,p.T29M,ENST00000546166,,c.86C>T,MODERATE,,deleterious(0.05),benign(0.097),1;FOLR3,missense_variant,p.T31M,ENST00000612844,,c.92C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.023),1;FOLR3,upstream_gene_variant,,ENST00000545379,,,MODIFIER,,,,1;RPEP6,downstream_gene_variant,,ENST00000546228,,,MODIFIER,YES,,,1","T","ENSG00000110203","ENST00000611028","Transcript","missense_variant","missense_variant","142/849","92/738","31/245","T/M","aCg/aTg","rs371010355",null,1,"FOLR3","HGNC","HGNC:3795","protein_coding","YES","CCDS73344.1","ENSP00000481114","P41439.143",null,"UPI0000D4B12C","P41439-1","NM_001318045.2;NM_000804.4","NM_000804.4","P1",null,"tolerated(0.12)","benign(0.202)","2024-02-05",null,"PANTHER:PTHR10517:SF17;PANTHER:PTHR10517",0.0002,0,0,1E-3,0,0,0,0.0004659,1.317E-4,0,"5.785e-05",0,0.0008199,0,"7.063e-05",3.278E-4,0.000196,1E-3,"EAS","8.789719868218526e-05","2.4330900487257168e-05",0,"6.627779657719657e-05",0,0.000402414007112383,0,0,0.000123480000183917,0,0.000208419995033182,0.000402414007112383,"eas",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"CAGGACGGACC","a7e87f02-6b1b-457c-af83-d82167cff18e","bcfa0c7f-95d4-4691-b402-7bb73ee3bf85","5779f7a7-05d7-4972-bd4f-aacb32420510",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DACH2",117154,"BI","GRCh38","chrX",86148750,86148750,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-AA6D","TCGA-VQ-AA6D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"6e074d86-f6ca-4914-ab95-fbefb6e97a63","73264b63-efd3-4370-9d81-144c6f16c5ee","c.130A>C","p.Asn44His","p.N44H","ENST00000373125","2024-01-12",35,21,14,58,null,null,"DACH2,missense_variant,p.N44H,ENST00000373131,NM_001139514.1,c.130A>C,MODERATE,,deleterious_low_confidence(0.02),benign(0.431),1;DACH2,missense_variant,p.N44H,ENST00000373125,NM_053281.3,c.130A>C,MODERATE,YES,deleterious_low_confidence(0.01),possibly_damaging(0.567),1;DACH2,missense_variant,p.N44H,ENST00000461604,,c.130A>C,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.567),1;DACH2,missense_variant,p.N44H,ENST00000506327,,c.130A>C,MODERATE,,tolerated_low_confidence(0.08),possibly_damaging(0.567),1","C","ENSG00000126733","ENST00000373125","Transcript","missense_variant","missense_variant","300/2417","130/1800","44/599","N/H","Aat/Cat","COSV100913523",null,1,"DACH2","HGNC","HGNC:16814","protein_coding","YES","CCDS14455.1","ENSP00000362217","Q96NX9.137",null,"UPI00000717B4","Q96NX9-1","NM_053281.3","NM_053281.3","P4",null,"deleterious_low_confidence(0.01)","possibly_damaging(0.567)","2024-01-12",null,"PANTHER:PTHR12577;PANTHER:PTHR12577:SF7",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGATCAATAGT","a7e87f02-6b1b-457c-af83-d82167cff18e","bcfa0c7f-95d4-4691-b402-7bb73ee3bf85","5779f7a7-05d7-4972-bd4f-aacb32420510",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRP2",4036,"BI","GRCh38","chr2",169207166,169207166,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-7704","TCGA-BR-7704-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"c1862014-6b34-43d3-bc2f-fa85dc6f5806","9bd9dfe3-570c-469d-8f0e-b75d2147f078","c.6554T>G","p.Leu2185Arg","p.L2185R","ENST00000649046","39/79",127,90,37,88,null,null,"LRP2,missense_variant,p.L2185R,ENST00000649046,NM_004525.3,c.6554T>G,MODERATE,YES,deleterious(0),probably_damaging(0.929),-1","C","ENSG00000081479","ENST00000649046","Transcript","missense_variant","missense_variant","6689/15657","6554/13968","2185/4655","L/R","cTt/cGt","COSV99786796",null,-1,"LRP2","HGNC","HGNC:6694","protein_coding","YES","CCDS2232.1","ENSP00000496870","P98164.202",null,"UPI0000141BA5",null,"NM_004525.3","NM_004525.3","P1",null,"deleterious(0)","probably_damaging(0.929)","39/79",null,"Gene3D:2.120.10.30;SMART:SM00135;Superfamily:SSF63825;PROSITE_profiles:PS51120;PANTHER:PTHR46513:SF21;PANTHER:PTHR46513",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,1,"CTTTAAGAAGA","fa2a2104-acb9-4fed-aca4-efbdd07f8347","3f817c4e-32b2-411e-af25-8f280de10edf","9ef7582b-d4c1-4036-a1ed-ef65aa46fc60",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAGEA8",4107,"BI","GRCh38","chrX",149884785,149884785,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-7704","TCGA-BR-7704-10A-01D-2053-08",{"$nulls":8},"Somatic",{"$nulls":6},"c1862014-6b34-43d3-bc2f-fa85dc6f5806","9bd9dfe3-570c-469d-8f0e-b75d2147f078","c.513A>C","p.Glu171Asp","p.E171D","ENST00000286482","2024-03-03",154,107,47,109,null,null,"MAGEA8,missense_variant,p.E171D,ENST00000535454,NM_001166400.1,c.513A>C,MODERATE,YES,deleterious(0.03),benign(0.029),1;MAGEA8,missense_variant,p.E171D,ENST00000542674,NM_001166401.1,c.513A>C,MODERATE,,deleterious(0.03),benign(0.029),1;MAGEA8,missense_variant,p.E171D,ENST00000286482,NM_005364.5,c.513A>C,MODERATE,,deleterious(0.03),benign(0.029),1;MAGEA8,downstream_gene_variant,,ENST00000345830,,,MODIFIER,,,,1;MAGEA8,downstream_gene_variant,,ENST00000493910,,,MODIFIER,,,,1;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,,,MODIFIER,YES,,,-1;LINC00850,downstream_gene_variant,,ENST00000629221,,,MODIFIER,YES,,,1","C","ENSG00000156009","ENST00000286482","Transcript","missense_variant","missense_variant","741/1781","513/957","171/318","E/D","gaA/gaC","COSV99674425;COSV99674717",null,1,"MAGEA8","HGNC","HGNC:6806","protein_coding",null,"CCDS14692.1","ENSP00000286482","P43361.143",null,"UPI0000071C79",null,"NM_005364.5","NM_005364.5","P1",null,"deleterious(0.03)","benign(0.029)","2024-03-03",null,"PROSITE_profiles:PS50838;PANTHER:PTHR11736:SF65;PANTHER:PTHR11736;Pfam:PF01454;Gene3D:1.10.10.1200;SMART:SM01373",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"AAGGAAGTGGA","fa2a2104-acb9-4fed-aca4-efbdd07f8347","3f817c4e-32b2-411e-af25-8f280de10edf","9ef7582b-d4c1-4036-a1ed-ef65aa46fc60",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADCY8",114,"BI","GRCh38","chr8",130943373,130943373,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-IP-7968","TCGA-IP-7968-10A-01D-2201-08",{"$nulls":8},"Somatic",{"$nulls":6},"3cd2ff4e-689b-4c9f-87b7-083a64c1e68f","1b36d280-0b98-4b5a-b70f-6d74b3662af3","c.1331C>A","p.Ala444Asp","p.A444D","ENST00000286355","2024-04-18",72,51,21,42,null,null,"ADCY8,missense_variant,p.A444D,ENST00000286355,NM_001115.3,c.1331C>A,MODERATE,YES,deleterious(0),probably_damaging(0.973),-1;ADCY8,missense_variant,p.A444D,ENST00000377928,,c.1331C>A,MODERATE,,deleterious(0),probably_damaging(0.944),-1;ADCY8,missense_variant,p.A59D,ENST00000522949,,c.176C>A,MODERATE,,deleterious(0),probably_damaging(0.973),-1;AC103726.2,non_coding_transcript_exon_variant,,ENST00000523318,,n.199G>T,MODIFIER,YES,,,1","T","ENSG00000155897","ENST00000286355","Transcript","missense_variant","missense_variant","1907/4421","1331/3756","444/1251","A/D","gCc/gAc","COSV53899268",null,-1,"ADCY8","HGNC","HGNC:239","protein_coding","YES","CCDS6363.1","ENSP00000286355","P40145.179","A0A0K0K1K3.37","UPI000012887C",null,"NM_001115.3","NM_001115.3","P1",null,"deleterious(0)","probably_damaging(0.973)","2024-04-18",null,"Gene3D:3.30.70.1230;Pfam:PF00211;PIRSF:PIRSF039050;PROSITE_profiles:PS50125;PANTHER:PTHR45627;PANTHER:PTHR45627:SF5;SMART:SM00044;Superfamily:SSF55073;CDD:cd07302",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATCTGGCAAAG","557081f7-8a87-4285-8cad-c0667f4be51d","623d8b0a-68c7-42a2-8453-bd10ad05b151","faf5f1e3-9f7d-4a9d-a005-6cad5e4becf7",null,"COSM3896784","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SMC4",10051,"BI","GRCh38","chr3",160433108,160433108,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-D7-8572","TCGA-D7-8572-10A-01D-2341-08",{"$nulls":8},"Somatic",{"$nulls":6},"584e46d6-280d-4aaa-b03e-5fd7ece08d77","a0e40acf-0a3e-4b8d-b504-22a3001b1191","c.3613T>G","p.Phe1205Val","p.F1205V","ENST00000344722","22/23",137,112,25,160,null,null,"SMC4,missense_variant,p.F1205V,ENST00000344722,NM_005496.3,c.3613T>G,MODERATE,YES,deleterious(0),probably_damaging(1),1;SMC4,missense_variant,p.F1205V,ENST00000357388,NM_001002800.3,c.3613T>G,MODERATE,,deleterious(0),probably_damaging(1),1;SMC4,missense_variant,p.F1147V,ENST00000462787,,c.3439T>G,MODERATE,,deleterious(0),probably_damaging(0.999),1;SMC4,missense_variant,p.F1180V,ENST00000469762,NM_001288753.2,c.3538T>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;TRIM59,3_prime_UTR_variant,,ENST00000543469,,c.*2765A>C,MODIFIER,,,,-1;TRIM59,downstream_gene_variant,,ENST00000309784,NM_173084.3,,MODIFIER,YES,,,-1;SMC4,non_coding_transcript_exon_variant,,ENST00000462668,,n.2836T>G,MODIFIER,,,,1;AC079594.1,intron_variant,,ENST00000483754,,c.952+5124A>C,MODIFIER,YES,,,-1;SMC4,downstream_gene_variant,,ENST00000486711,,,MODIFIER,,,,1;SMC4,downstream_gene_variant,,ENST00000488017,,,MODIFIER,,,,1","G","ENSG00000113810","ENST00000344722","Transcript","missense_variant","missense_variant","3958/5356","3613/3867","1205/1288","F/V","Ttt/Gtt","COSV59087391",null,1,"SMC4","HGNC","HGNC:14013","protein_coding","YES","CCDS3189.1","ENSP00000341382","Q9NTJ3.184",null,"UPI000006DA0A","Q9NTJ3-1","NM_005496.3",null,"P1",null,"deleterious(0)","probably_damaging(1)","22/23",null,"CDD:cd03274;PANTHER:PTHR43939;PANTHER:PTHR43939:SF1;Gene3D:3.40.50.300;Pfam:PF02463;PIRSF:PIRSF005719;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TAGTATTTGCT","3bc9905f-1740-4f42-acc5-382d572ebad0","91036520-21a5-483c-8f42-a1f4ca16ce68","8097fddc-c7b9-4192-89d7-6bcceb7465b5",null,"COSM4114921","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FAT3",120114,"BI","GRCh38","chr11",92801720,92801720,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-D7-A4YU","TCGA-D7-A4YU-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"63220bf2-a703-4487-b97c-3be4140b4f0d","63ddf1ce-74da-436e-ab08-d445c7b1860a","c.8707T>G","p.Ser2903Ala","p.S2903A","ENST00000409404","2024-09-25",76,51,25,90,null,null,"FAT3,missense_variant,p.S2903A,ENST00000409404,NM_001008781.3,c.8707T>G,MODERATE,YES,deleterious(0.05),possibly_damaging(0.578),1;FAT3,missense_variant,p.S2753A,ENST00000525166,NM_001367949.2,c.8257T>G,MODERATE,,deleterious(0.03),benign(0.065),1","G","ENSG00000165323","ENST00000409404","Transcript","missense_variant","missense_variant","8724/19030","8707/13674","2903/4557","S/A","Tct/Gct","COSV53105227",null,1,"FAT3","HGNC","HGNC:23112","protein_coding","YES",null,"ENSP00000387040","Q8TDW7.142",null,"UPI000050B6C7","Q8TDW7-3","NM_001008781.3",null,"P1",null,"deleterious(0.05)","possibly_damaging(0.578)","2024-09-25",null,"CDD:cd11304;Gene3D:2.60.40.60;Pfam:PF00028;SMART:SM00112;Superfamily:SSF49313;PROSITE_profiles:PS50268;PANTHER:PTHR24026;PANTHER:PTHR24026:SF49",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CATTCTCTCTT","0cfaf989-a4c7-4eef-b3aa-3f962c762ac2","0496e122-a04a-4fc5-8f73-23430a1f25e7","32b44138-64e2-4bbf-aa2f-93a3b07ec670",null,"COSM4037570;COSM4037571","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["IGLV1-47",28822,"BI","GRCh38","chr22",22358129,22358129,"+","Missense_Mutation","SNP","C","C","T","rs768931849",null,"TCGA-VQ-A8PE","TCGA-VQ-A8PE-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"8c854b2f-cee6-4a3a-9868-7f7aab2dffdc","69460bfc-2305-402b-847b-ea8247913189","c.220C>T","p.Arg74Trp","p.R74W","ENST00000390294","2024-02-02",110,87,23,246,null,null,"IGLV1-47,missense_variant,p.R74W,ENST00000390294,,c.220C>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.409),1;IGLV5-48,downstream_gene_variant,,ENST00000390293,,,MODIFIER,YES,,,1","T","ENSG00000211648","ENST00000390294","Transcript","missense_variant","missense_variant","276/407","220/351","74/117","R/W","Cgg/Tgg","rs768931849",null,1,"IGLV1-47","HGNC","HGNC:5880","IG_V_gene","YES",null,"ENSP00000374829","P01700.118",null,"UPI0001611026",{"$nulls":3},"P1","cds_end_NF","deleterious_low_confidence(0)","benign(0.409)","2024-02-02",null,"PDB-ENSP_mappings:1zvo.A;PDB-ENSP_mappings:1zvo.B",{"$nulls":8},"2.81e-05",0,0,0,0,"9.282e-05","3.542e-05",0,"3.268e-05","9.282e-05","gnomAD_FIN",{"$nulls":22},"MODERATE",1,"SNV",{"$nulls":4},"ATCAGCGGCCC","dce26b44-d186-4515-836a-29870a84b1d4","4b0f2e73-ac61-4ab4-9f38-e0ffa76367b7","32b1f9ff-dbad-47f5-9580-13f4120f5891",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EBNA1BP2",10969,"BI","GRCh38","chr1",43171887,43171887,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-A8PO","TCGA-VQ-A8PO-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fc9a77eb-9e47-4d04-90b9-43e3813a908c","3f6ff966-4c7b-4e92-a93b-ab91f8149419","c.149T>C","p.Val50Ala","p.V50A","ENST00000236051","2024-02-09",50,35,15,53,null,null,"EBNA1BP2,missense_variant,p.V105A,ENST00000431635,NM_001159936.1,c.314T>C,MODERATE,YES,tolerated(0.23),benign(0.013),-1;EBNA1BP2,missense_variant,p.V50A,ENST00000236051,NM_006824.3,c.149T>C,MODERATE,,tolerated(0.14),benign(0.015),-1;CFAP57,upstream_gene_variant,,ENST00000372492,NM_001378189.1,,MODIFIER,,,,1;CFAP57,upstream_gene_variant,,ENST00000528956,NM_152498.3&NM_001167965.1,,MODIFIER,,,,1;CFAP57,upstream_gene_variant,,ENST00000529956,,,MODIFIER,,,,1;CFAP57,upstream_gene_variant,,ENST00000610710,NM_001195831.3,,MODIFIER,YES,,,1;MIR6733,upstream_gene_variant,,ENST00000635723,,,MODIFIER,YES,,,-1;EBNA1BP2,splice_region_variant,,ENST00000472982,,n.299T>C,LOW,,,,-1;EBNA1BP2,splice_region_variant,,ENST00000461557,,n.698T>C,LOW,,,,-1;EBNA1BP2,splice_region_variant,,ENST00000491223,,n.444T>C,LOW,,,,-1;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000483082,,n.313T>C,MODIFIER,,,,-1;EBNA1BP2,upstream_gene_variant,,ENST00000463906,,,MODIFIER,,,,-1;CFAP57,upstream_gene_variant,,ENST00000525227,,,MODIFIER,,,,1;CFAP57,upstream_gene_variant,,ENST00000533339,,,MODIFIER,,,,1","G","ENSG00000117395","ENST00000236051","Transcript","missense_variant","missense_variant;splice_region_variant","321/1352","149/921","50/306","V/A","gTg/gCg","COSV99355826",null,-1,"EBNA1BP2","HGNC","HGNC:15531","protein_coding",null,"CCDS478.1","ENSP00000236051","Q99848.178","Q6IB29.121","UPI000013C9E3",null,"NM_006824.3","NM_006824.3","P4",null,"tolerated(0.14)","benign(0.015)","2024-02-09",null,"Pfam:PF05890;PANTHER:PTHR13028",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"TCACCACGTCG","19a34bc5-4818-4250-9a88-3f24b4bd14b0","0c94a678-3f1e-4de6-9c42-a1c6191f10b2","4ec9dbb4-358d-4c59-8039-552c7006c2bf",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NOTCH4",4855,"BI","GRCh38","chr6",32202370,32202370,"+","Frame_Shift_Del","DEL","C","C","-",null,null,"TCGA-VQ-A8PO","TCGA-VQ-A8PO-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fc9a77eb-9e47-4d04-90b9-43e3813a908c","3f6ff966-4c7b-4e92-a93b-ab91f8149419","c.3461del","p.Gly1154AlafsTer150","p.G1154Afs*150","ENST00000375023","21/30",39,30,9,49,null,null,"NOTCH4,frameshift_variant,p.G1154Afs*150,ENST00000375023,NM_004557.4,c.3461del,HIGH,YES,,,-1;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,,n.1547del,MODIFIER,,,,-1","-","ENSG00000204301","ENST00000375023","Transcript","frameshift_variant","frameshift_variant","3600/6745","3461/6012","1154/2003","G/X","gGc/gc",null,null,-1,"NOTCH4","HGNC","HGNC:7884","protein_coding","YES","CCDS34420.1","ENSP00000364163","Q99466.210","A0A1U9X983.22","UPI0000130571","Q99466-1","NM_004557.4","NM_004557.4","P1",{"$nulls":3},"21/30",null,"Gene3D:2.10.25.10;PIRSF:PIRSF002279;PROSITE_profiles:PS50026;PANTHER:PTHR24044;PANTHER:PTHR24044:SF450;SMART:SM00181",{"$nulls":41},"HIGH",1,"deletion",1,{"$nulls":3},"CCTGGGCCCCCC","19a34bc5-4818-4250-9a88-3f24b4bd14b0","0c94a678-3f1e-4de6-9c42-a1c6191f10b2","4ec9dbb4-358d-4c59-8039-552c7006c2bf",null,"COSM3348576","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["AQP2",359,"BI","GRCh38","chr12",49951126,49951126,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-VQ-A8PO","TCGA-VQ-A8PO-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"fc9a77eb-9e47-4d04-90b9-43e3813a908c","3f6ff966-4c7b-4e92-a93b-ab91f8149419","c.296C>T","p.Ala99Val","p.A99V","ENST00000199280","2024-01-04",20,14,5,27,null,null,"AQP2,missense_variant,p.A99V,ENST00000199280,NM_000486.6,c.296C>T,MODERATE,YES,tolerated(0.36),benign(0.015),1;AQP2,missense_variant,p.A99V,ENST00000550862,,c.296C>T,MODERATE,,tolerated(0.44),benign(0.075),1;AQP2,missense_variant,p.A99V,ENST00000551526,,c.296C>T,MODERATE,,tolerated(0.67),benign(0.011),1;AC025154.2,downstream_gene_variant,,ENST00000550530,,,MODIFIER,,,,-1;AC025154.2,downstream_gene_variant,,ENST00000552379,,,MODIFIER,,,,-1;AC025154.1,downstream_gene_variant,,ENST00000552806,,,MODIFIER,YES,,,-1","T","ENSG00000167580","ENST00000199280","Transcript","missense_variant","missense_variant","390/4180","296/816","99/271","A/V","gCc/gTc","COSV99550741",null,1,"AQP2","HGNC","HGNC:634","protein_coding","YES","CCDS8792.1","ENSP00000199280","P41181.189",null,"UPI000000D9DF",null,"NM_000486.6","NM_000486.6","P1",null,"tolerated(0.36)","benign(0.015)","2024-01-04",null,"PDB-ENSP_mappings:4nef.A;PDB-ENSP_mappings:4nef.B;PDB-ENSP_mappings:4nef.C;PDB-ENSP_mappings:4nef.D;PDB-ENSP_mappings:4oj2.X;PDB-ENSP_mappings:6qf5.A;PDB-ENSP_mappings:6qf5.B;PDB-ENSP_mappings:6qf5.C;PDB-ENSP_mappings:6qf5.D;Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;CDD:cd00333;PANTHER:PTHR19139;PANTHER:PTHR19139:SF45;Pfam:PF00230;Gene3D:1.20.1080.10;TIGRFAM:TIGR00861;Superfamily:SSF81338;Prints:PR00783",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGTGGCCGGAG","19a34bc5-4818-4250-9a88-3f24b4bd14b0","0c94a678-3f1e-4de6-9c42-a1c6191f10b2","4ec9dbb4-358d-4c59-8039-552c7006c2bf",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AP4B1",10717,"BI","GRCh38","chr1",113896456,113896456,"+","Missense_Mutation","SNP","C","C","A","novel",null,"TCGA-BR-8058","TCGA-BR-8058-10A-01D-2340-08",{"$nulls":8},"Somatic",{"$nulls":6},"bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0","aee74947-0273-4f36-af55-09bc0df09fb1","c.1312G>T","p.Ala438Ser","p.A438S","ENST00000256658","2024-09-11",58,51,7,68,null,null,"AP4B1,missense_variant,p.A438S,ENST00000369569,NM_001253852.3,c.1312G>T,MODERATE,YES,tolerated(0.07),possibly_damaging(0.802),-1;AP4B1,missense_variant,p.A438S,ENST00000256658,NM_001253853.3&NM_006594.5,c.1312G>T,MODERATE,,tolerated(0.07),possibly_damaging(0.802),-1;AP4B1,missense_variant,p.A270S,ENST00000369567,NM_001308312.2,c.808G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.888),-1;AP4B1,downstream_gene_variant,,ENST00000369564,,,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000369571,,,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000432415,,,MODIFIER,,,,-1;AP4B1,non_coding_transcript_exon_variant,,ENST00000462591,,n.1484G>T,MODIFIER,,,,-1;AP4B1,non_coding_transcript_exon_variant,,ENST00000479285,,n.540G>T,MODIFIER,,,,-1;AP4B1,non_coding_transcript_exon_variant,,ENST00000484201,,n.874G>T,MODIFIER,,,,-1;AP4B1,non_coding_transcript_exon_variant,,ENST00000479801,,n.146G>T,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000460653,,,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000472122,,,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000489092,,,MODIFIER,,,,-1;AP4B1,downstream_gene_variant,,ENST00000489499,,,MODIFIER,,,,-1;AP4B1-AS1,intron_variant,,ENST00000419536,,n.247-1412C>A,MODIFIER,YES,,,1","A","ENSG00000134262","ENST00000256658","Transcript","missense_variant","missense_variant","1517/2742","1312/2220","438/739","A/S","Gca/Tca",null,null,-1,"AP4B1","HGNC","HGNC:572","protein_coding",null,"CCDS865.1","ENSP00000256658","Q9Y6B7.168","A0A024R0J5.3","UPI0000072F63","Q9Y6B7-1","NM_001253853.3;NM_006594.5",null,"P1",null,"tolerated(0.07)","possibly_damaging(0.802)","2024-09-11",null,"PANTHER:PTHR11134:SF4;PANTHER:PTHR11134;Gene3D:1.25.10.10;Pfam:PF01602;PIRSF:PIRSF002291;Superfamily:SSF48371",{"$nulls":41},"MODERATE",null,"SNV",1,null,null,1,"AAGTGCTTGCT","77823294-74cc-41d8-96f9-307e5b7a2adb","b6e5228b-5824-45ac-80a2-be60d06799e8","4685dc14-1809-47ea-aba9-9bde72f6661b",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["RCC2",55920,"BI","GRCh38","chr1",17409151,17409151,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.1508A>C","p.Glu503Ala","p.E503A","ENST00000375433","2024-12-12",118,78,40,165,null,null,"RCC2,missense_variant,p.E503A,ENST00000375436,NM_018715.4,c.1508A>C,MODERATE,YES,deleterious(0.03),benign(0.115),-1;RCC2,missense_variant,p.E503A,ENST00000375433,NM_001136204.3,c.1508A>C,MODERATE,,deleterious(0.03),benign(0.115),-1;RCC2,upstream_gene_variant,,ENST00000474892,,,MODIFIER,,,,-1;RCC2-AS1,downstream_gene_variant,,ENST00000439577,,,MODIFIER,YES,,,1","G","ENSG00000179051","ENST00000375433","Transcript","missense_variant","missense_variant","1555/2030","1508/1569","503/522","E/A","gAa/gCa","COSV64905534",null,-1,"RCC2","HGNC","HGNC:30297","protein_coding",null,"CCDS181.1","ENSP00000364582","Q9P258.171","A0A024RAC5.50","UPI0000074608",null,"NM_001136204.3",null,"P1",null,"deleterious(0.03)","benign(0.115)","2024-12-12",null,"Gene3D:2.130.10.30;PDB-ENSP_mappings:5gwn.A;PANTHER:PTHR46207;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CACTTTCATCT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4025477","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MFSD14A",64645,"BI","GRCh38","chr1",100068049,100068049,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.559G>A","p.Asp187Asn","p.D187N","ENST00000370152","2024-06-12",117,80,37,167,null,null,"MFSD14A,missense_variant,p.D187N,ENST00000370152,NM_033055.3,c.559G>A,MODERATE,YES,tolerated(0.06),benign(0.261),1;AC118553.2,missense_variant,p.D410N,ENST00000638792,,c.1228G>A,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.999),1;AC118553.2,missense_variant,p.D410N,ENST00000639037,,c.1228G>A,MODERATE,YES,deleterious_low_confidence(0.03),probably_damaging(0.999),1;AC118553.2,3_prime_UTR_variant,,ENST00000639171,,c.*534G>A,MODIFIER,,,,1;AC118553.2,3_prime_UTR_variant,,ENST00000640357,,c.*462G>A,MODIFIER,,,,1;AC118553.2,3_prime_UTR_variant,,ENST00000638968,,c.*595G>A,MODIFIER,,,,1;AC118553.2,3_prime_UTR_variant,,ENST00000640238,,c.*1168G>A,MODIFIER,,,,1;AC118553.2,3_prime_UTR_variant,,ENST00000639040,,c.*452G>A,MODIFIER,,,,1;AC118553.2,3_prime_UTR_variant,,ENST00000638779,,c.*595G>A,MODIFIER,,,,1;AC093019.2,intron_variant,,ENST00000432294,,n.293-9968C>T,MODIFIER,YES,,,-1","A","ENSG00000156875","ENST00000370152","Transcript","missense_variant","missense_variant","697/2779","559/1473","187/490","D/N","Gac/Aac","COSV64514478",null,1,"MFSD14A","HGNC","HGNC:23363","protein_coding","YES","CCDS763.1","ENSP00000359171","Q96MC6.132",null,"UPI0000049F99",null,"NM_033055.3","NM_033055.3","P1",null,"tolerated(0.06)","benign(0.261)","2024-06-12",null,"PROSITE_profiles:PS50850;CDD:cd17387;PANTHER:PTHR23504:SF77;PANTHER:PTHR23504;Pfam:PF07690;Gene3D:1.20.1250.20;Superfamily:SSF103473",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATGGGGACAGC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4019785","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZBTB41",360023,"BI","GRCh38","chr1",197200458,197200458,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.16A>C","p.Lys6Gln","p.K6Q","ENST00000367405","2024-02-11",126,93,33,80,null,null,"ZBTB41,missense_variant,p.K6Q,ENST00000367405,NM_194314.3,c.16A>C,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.202),-1;ZBTB41,missense_variant,p.K6Q,ENST00000467322,,c.16A>C,MODERATE,,deleterious_low_confidence(0.02),benign(0.367),-1","G","ENSG00000177888","ENST00000367405","Transcript","missense_variant","missense_variant","204/8595","16/2730","6/909","K/Q","Aag/Cag","COSV66358915",null,-1,"ZBTB41","HGNC","HGNC:24819","protein_coding","YES","CCDS30960.1","ENSP00000356375","Q5SVQ8.144",null,"UPI00001D7DE7","Q5SVQ8-1","NM_194314.3","NM_194314.3","P1",null,"deleterious_low_confidence(0.01)","benign(0.202)","2024-02-11",{"$nulls":35},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AACCTTTCTCC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4026642","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NCOA1",8648,"BI","GRCh38","chr2",24665904,24665904,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.245G>T","p.Arg82Ile","p.R82I","ENST00000348332","2024-04-21",100,74,26,84,null,null,"NCOA1,missense_variant,p.R82I,ENST00000405141,NM_001362955.1&NM_001362952.1&NM_001362954.1,c.245G>T,MODERATE,,deleterious(0),benign(0.155),1;NCOA1,missense_variant,p.R82I,ENST00000406961,NM_003743.5,c.245G>T,MODERATE,YES,deleterious(0),benign(0.411),1;NCOA1,missense_variant,p.R82I,ENST00000288599,NM_001362950.1&NM_147223.3,c.245G>T,MODERATE,,deleterious(0),benign(0.155),1;NCOA1,missense_variant,p.R82I,ENST00000348332,,c.245G>T,MODERATE,,deleterious(0),benign(0.411),1;NCOA1,missense_variant,p.R82I,ENST00000395856,NM_147233.2,c.245G>T,MODERATE,,deleterious(0),possibly_damaging(0.878),1;NCOA1,intron_variant,,ENST00000407230,,c.-198+7138G>T,MODIFIER,,,,1","T","ENSG00000084676","ENST00000348332","Transcript","missense_variant","missense_variant","503/6895","245/4326","82/1441","R/I","aGa/aTa","COSV56041526",null,1,"NCOA1","HGNC","HGNC:7668","protein_coding",null,"CCDS1712.1","ENSP00000320940","Q15788.193",null,"UPI000006E1F7","Q15788-1",{"$nulls":4},"deleterious(0)","benign(0.411)","2024-04-21",null,"Gene3D:4.10.280.10;PIRSF:PIRSF038181;PANTHER:PTHR10684;PANTHER:PTHR10684:SF1;SMART:SM00353;Superfamily:SSF47459;CDD:cd00083",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GAAGAGAATGG","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4093193;COSM4093194","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POLR1B",84172,"BI","GRCh38","chr2",112552710,112552710,"+","Missense_Mutation","SNP","G","G","A","rs868750132",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.1052G>A","p.Arg351Gln","p.R351Q","ENST00000263331","2024-07-15",89,55,33,79,null,null,"POLR1B,missense_variant,p.R351Q,ENST00000263331,NM_001371969.1&NM_019014.6,c.1052G>A,MODERATE,,tolerated(0.13),benign(0.144),1;POLR1B,missense_variant,p.R389Q,ENST00000541869,NM_001282772.2,c.1166G>A,MODERATE,YES,tolerated(0.14),benign(0.089),1;POLR1B,missense_variant,p.R140Q,ENST00000537335,NM_001371971.1&NM_001282776.2,c.419G>A,MODERATE,,tolerated(0.22),benign(0.144),1;POLR1B,missense_variant,p.R351Q,ENST00000409894,NM_001282774.2,c.1052G>A,MODERATE,,tolerated(0.24),benign(0.362),1;POLR1B,missense_variant,p.R295Q,ENST00000417433,NM_001371970.1&NM_001282777.2&NM_001282779.2&NM_001137604.3,c.884G>A,MODERATE,,tolerated(0.18),benign(0.047),1;POLR1B,downstream_gene_variant,,ENST00000496238,,,MODIFIER,,,,1;POLR1B,upstream_gene_variant,,ENST00000498054,,,MODIFIER,,,,1;POLR1B,3_prime_UTR_variant,,ENST00000333990,,c.*922G>A,MODIFIER,,,,1;POLR1B,non_coding_transcript_exon_variant,,ENST00000475318,,n.586G>A,MODIFIER,,,,1;POLR1B,intron_variant,,ENST00000448770,,c.177+10039G>A,MODIFIER,,,,1;POLR1B,downstream_gene_variant,,ENST00000424062,,,MODIFIER,,,,1;POLR1B,downstream_gene_variant,,ENST00000430293,,,MODIFIER,,,,1;POLR1B,downstream_gene_variant,,ENST00000468475,,,MODIFIER,,,,1","A","ENSG00000125630","ENST00000263331","Transcript","missense_variant","missense_variant","1082/7527","1052/3408","351/1135","R/Q","cGa/cAa","rs868750132;COSV54496450",null,1,"POLR1B","HGNC","HGNC:20454","protein_coding",null,"CCDS2097.1","ENSP00000263331","Q9H9Y6.181",null,"UPI00001B6B03","Q9H9Y6-1","NM_001371969.1;NM_019014.6","NM_019014.6","P1",null,"tolerated(0.13)","benign(0.144)","2024-07-15",null,"CDD:cd00653;PANTHER:PTHR20856:SF5;PANTHER:PTHR20856;Gene3D:3.90.1110.10;Pfam:PF04561;Pfam:PF04563;Superfamily:SSF64484",{"$nulls":8},"4.005e-06",0,0,0,0,0,"8.839e-06",0,0,"8.839e-06","gnomAD_NFE","6.77304979035398e-06",0,0,"6.641870277235284e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"GACGCGAAAGC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM1221496;COSM4084243","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COL6A3",1293,"BI","GRCh38","chr2",237378912,237378912,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.2221G>A","p.Glu741Lys","p.E741K","ENST00000295550","6/44",63,45,18,91,null,null,"COL6A3,missense_variant,p.E741K,ENST00000295550,NM_004369.4,c.2221G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.451),-1;COL6A3,missense_variant,p.E535K,ENST00000353578,NM_057167.3,c.1603G>A,MODERATE,,deleterious(0.03),probably_damaging(0.918),-1;COL6A3,missense_variant,p.E535K,ENST00000409809,,c.1603G>A,MODERATE,,deleterious(0.03),probably_damaging(0.918),-1;COL6A3,missense_variant,p.E535K,ENST00000392004,NM_057165.5,c.1603G>A,MODERATE,,deleterious(0),possibly_damaging(0.7),-1;COL6A3,missense_variant,p.E334K,ENST00000392003,NM_057164.5,c.1000G>A,MODERATE,,deleterious(0),benign(0.283),-1;COL6A3,intron_variant,,ENST00000347401,,c.677-1568G>A,MODIFIER,,,,-1;COL6A3,intron_variant,,ENST00000433762,,c.1898-1568G>A,MODIFIER,,,,-1;COL6A3,intron_variant,,ENST00000472056,NM_057166.5,c.677-1568G>A,MODIFIER,,,,-1","T","ENSG00000163359","ENST00000295550","Transcript","missense_variant","missense_variant","2463/10532","2221/9534","741/3177","E/K","Gaa/Aaa","COSV55084296",null,-1,"COL6A3","HGNC","HGNC:2213","protein_coding","YES","CCDS33412.1","ENSP00000295550","P12111.228","D9ZGF2.77","UPI0000456F39","P12111-1","NM_004369.4","NM_004369.4","P1",null,"deleterious(0.03)","possibly_damaging(0.451)","6/44",null,"Gene3D:3.40.50.410;Pfam:PF00092;PROSITE_profiles:PS50234;PANTHER:PTHR24020;PANTHER:PTHR24020:SF13;SMART:SM00327;Superfamily:SSF53300;CDD:cd01481",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GTGTTCACGGA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4092673;COSM4092674","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ROBO2",6092,"BI","GRCh38","chr3",77477542,77477542,"+","Nonsense_Mutation","SNP","C","C","T","rs771652332",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.517C>T","p.Arg173Ter","p.R173*","ENST00000461745","2024-03-26",111,81,30,116,null,null,"ROBO2,stop_gained,p.R173*,ENST00000461745,NM_001378192.1&NM_001378198.1&NM_001378199.1&NM_001378194.1&NM_001290039.2&NM_001378202.1&NM_001378197.1&NM_001378193.1&NM_002942.5,c.517C>T,HIGH,,,,1;ROBO2,stop_gained,p.R45*,ENST00000614793,NM_001290065.2,c.133C>T,HIGH,,,,1;ROBO2,stop_gained,p.R189*,ENST00000487694,NM_001378191.1&NM_001378195.1&NM_001378196.1&NM_001378190.1&NM_001378200.1&NM_001378201.1&NM_001378203.1&NM_001128929.3,c.565C>T,HIGH,,,,1;ROBO2,stop_gained,p.R173*,ENST00000332191,NM_001290040.2,c.517C>T,HIGH,YES,,,1;ROBO2,stop_gained,p.R189*,ENST00000602589,,c.565C>T,HIGH,,,,1;ROBO2,stop_gained,p.R173*,ENST00000473767,,c.517C>T,HIGH,,,,1","T","ENSG00000185008","ENST00000461745","Transcript","stop_gained","stop_gained","1417/8946","517/4137","173/1378","R/*","Cga/Tga","rs771652332;COSV59902199",null,1,"ROBO2","HGNC","HGNC:10250","protein_coding",null,"CCDS43109.1","ENSP00000417164","Q9HCK4.181",null,"UPI00003A9322","Q9HCK4-1","NM_001378192.1;NM_001378198.1;NM_001378199.1;NM_001378194.1;NM_001290039.2;NM_001378202.1;NM_001378197.1;NM_001378193.1;NM_002942.5",null,"P4",{"$nulls":3},"2024-03-26",null,"Gene3D:2.60.40.10;PDB-ENSP_mappings:6i9s.A;PDB-ENSP_mappings:6i9s.B;PDB-ENSP_mappings:6iaa.A;PDB-ENSP_mappings:6iaa.B;PDB-ENSP_mappings:6iaa.C;Pfam:PF07679;PROSITE_profiles:PS50835;PANTHER:PTHR12231;PANTHER:PTHR12231:SF242;SMART:SM00408;SMART:SM00409;Superfamily:SSF48726",{"$nulls":33},"0;1",{"$nulls":7},"HIGH",null,"SNV",1,null,"0;1",1,"AAGTTCGAATT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM1723694;COSM1723695","N","Unknown",{"$nulls":3},"muse;varscan2"]
["ZCCHC4",29063,"BI","GRCh38","chr4",25314084,25314084,"+","Nonsense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.166G>T","p.Glu56Ter","p.E56*","ENST00000302874","2024-02-13",184,116,66,180,null,null,"ZCCHC4,stop_gained,p.E56*,ENST00000302874,NM_024936.3,c.166G>T,HIGH,YES,,,1;ZCCHC4,stop_gained,p.E32*,ENST00000612982,NM_001318148.2,c.94G>T,HIGH,,,,1;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,,n.191G>T,MODIFIER,,,,1;ZCCHC4,stop_gained,p.E56*,ENST00000507760,,c.166G>T,HIGH,,,,1","T","ENSG00000168228","ENST00000302874","Transcript","stop_gained","stop_gained","202/2797","166/1542","56/513","E/*","Gaa/Taa","COSV100255094;COSV57180802;COSV57182780",null,1,"ZCCHC4","HGNC","HGNC:22917","protein_coding","YES","CCDS43218.1","ENSP00000303468","Q9H5U6.140",null,"UPI0000251F28","Q9H5U6-1","NM_024936.3","NM_024936.3","P1",{"$nulls":3},"2024-02-13",null,"PDB-ENSP_mappings:6uca.A;PDB-ENSP_mappings:6uca.B;PDB-ENSP_mappings:6uca.C;PDB-ENSP_mappings:6uca.D;PDB-ENSP_mappings:6uca.E;PDB-ENSP_mappings:6uca.F;PANTHER:PTHR13493;Pfam:PF06839",{"$nulls":33},"1;1;1",{"$nulls":7},"HIGH",1,"SNV",1,null,"1;1;1",null,"GGAAAGAAGAA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4124182","N","Unknown",{"$nulls":3},"muse;varscan2"]
["EXOSC9",5393,"BI","GRCh38","chr4",121811663,121811663,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.819A>C","p.Gln273His","p.Q273H","ENST00000243498","2024-08-12",51,27,24,37,null,null,"EXOSC9,missense_variant,p.Q273H,ENST00000243498,NM_005033.3,c.819A>C,MODERATE,,deleterious(0.05),benign(0.119),1;EXOSC9,missense_variant,p.Q257H,ENST00000512454,,c.771A>C,MODERATE,,tolerated(0.06),benign(0.119),1;EXOSC9,missense_variant,p.Q273H,ENST00000379663,NM_001034194.2,c.819A>C,MODERATE,YES,deleterious(0.04),benign(0.382),1;EXOSC9,missense_variant,p.Q109H,ENST00000511132,,c.327A>C,MODERATE,,deleterious(0.04),benign(0.005),1;CCNA2,downstream_gene_variant,,ENST00000274026,NM_001237.5,,MODIFIER,YES,,,-1;EXOSC9,downstream_gene_variant,,ENST00000509800,,,MODIFIER,,,,1;EXOSC9,non_coding_transcript_exon_variant,,ENST00000509980,,n.926A>C,MODIFIER,,,,1;EXOSC9,non_coding_transcript_exon_variant,,ENST00000503139,,n.323A>C,MODIFIER,,,,1;EXOSC9,non_coding_transcript_exon_variant,,ENST00000503236,,n.195A>C,MODIFIER,,,,1;EXOSC9,non_coding_transcript_exon_variant,,ENST00000508212,,n.544A>C,MODIFIER,,,,1;EXOSC9,3_prime_UTR_variant,,ENST00000513654,,c.*64A>C,MODIFIER,,,,1;EXOSC9,downstream_gene_variant,,ENST00000506201,,,MODIFIER,,,,1;EXOSC9,downstream_gene_variant,,ENST00000511454,,,MODIFIER,,,,1","C","ENSG00000123737","ENST00000243498","Transcript","missense_variant","missense_variant","921/1587","819/1320","273/439","Q/H","caA/caC","COSV54665436",null,1,"EXOSC9","HGNC","HGNC:9137","protein_coding",null,"CCDS3722.2","ENSP00000243498","Q06265.193",null,"UPI000000DCB6","Q06265-1","NM_005033.3","NM_005033.3","P2",null,"deleterious(0.05)","benign(0.119)","2024-08-12",null,"PDB-ENSP_mappings:2nn6.A;PDB-ENSP_mappings:6d6q.A;PDB-ENSP_mappings:6d6r.A;PDB-ENSP_mappings:6h25.A;PANTHER:PTHR11097:SF14;PANTHER:PTHR11097;Gene3D:3.30.230.70;Superfamily:SSF55666",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GACCAAAAAGT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4121697","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GHR",2690,"BI","GRCh38","chr5",42719279,42719279,"+","Missense_Mutation","SNP","C","C","T","rs1351464021",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.1772C>T","p.Pro591Leu","p.P591L","ENST00000230882","2024-10-10",59,40,19,75,null,null,"GHR,missense_variant,p.P591L,ENST00000230882,NM_000163.5,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P591L,ENST00000615111,NM_001242400.2,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P591L,ENST00000612382,NM_001242403.2,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P598L,ENST00000620156,NM_001242399.2&NM_001242401.4&NM_001242406.2,c.1793C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.887),1;GHR,missense_variant,p.P591L,ENST00000612626,NM_001242404.2,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P591L,ENST00000618088,NM_001242402.2,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P591L,ENST00000537449,NM_001242405.2,c.1772C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;GHR,missense_variant,p.P569L,ENST00000357703,NM_001242460.1,c.1706C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;GHR,3_prime_UTR_variant,,ENST00000622294,NM_001242462.1,c.*814C>T,MODIFIER,,,,1;GHR,downstream_gene_variant,,ENST00000513625,,,MODIFIER,,,,1;GHR,3_prime_UTR_variant,,ENST00000511135,,c.*1384C>T,MODIFIER,,,,1","T","ENSG00000112964","ENST00000230882","Transcript","missense_variant","missense_variant","2300/4899","1772/1917","591/638","P/L","cCt/cTt","rs1351464021;COSV50108688",null,1,"GHR","HGNC","HGNC:4263","protein_coding",null,"CCDS3940.1","ENSP00000230882","P10912.225",null,"UPI000012B416","P10912-1","NM_000163.5","NM_000163.5","P4",null,"deleterious(0)","probably_damaging(0.998)","2024-10-10",null,"Pfam:PF12772;PANTHER:PTHR23036;PANTHER:PTHR23036:SF108",{"$nulls":19},"6.760500127711566e-06",0,0,0,0,0,0,0,"1.543019970995374e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"GATGCCTGTCC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM3855338","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GABRA1",2554,"BI","GRCh38","chr5",161873278,161873278,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.417G>T","p.Met139Ile","p.M139I","ENST00000023897","2024-06-11",93,64,29,93,null,null,"GABRA1,missense_variant,p.M139I,ENST00000428797,NM_001127643.2,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000393943,NM_001127644.2&NM_001127648.2,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M154I,ENST00000638159,,c.462G>T,MODERATE,YES,tolerated(0.56),possibly_damaging(0.584),1;GABRA1,missense_variant,p.M139I,ENST00000437025,NM_001127645.2,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000638112,,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000636573,,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000023897,NM_000806.5,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000637827,,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000635880,,c.417G>T,MODERATE,,tolerated(0.54),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000634335,,c.417G>T,MODERATE,,tolerated(0.5),benign(0.438),1;GABRA1,missense_variant,p.M139I,ENST00000519621,,c.417G>T,MODERATE,,tolerated(0.53),benign(0.438),1;GABRA1,downstream_gene_variant,,ENST00000522651,,,MODIFIER,,,,1;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,,n.221G>T,MODIFIER,,,,1;GABRA1,3_prime_UTR_variant,,ENST00000637044,,c.*191G>T,MODIFIER,,,,1;GABRA1,3_prime_UTR_variant,,ENST00000636340,,c.*266G>T,MODIFIER,,,,1;GABRA1,non_coding_transcript_exon_variant,,ENST00000635916,,n.1192G>T,MODIFIER,,,,1;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,,n.181G>T,MODIFIER,,,,1","T","ENSG00000022355","ENST00000023897","Transcript","missense_variant","missense_variant","885/2083","417/1371","139/456","M/I","atG/atT","COSV50100694",null,1,"GABRA1","HGNC","HGNC:4075","protein_coding",null,"CCDS4357.1","ENSP00000023897","P14867.213",null,"UPI000012AF95",null,"NM_000806.5",null,"P1",null,"tolerated(0.54)","benign(0.438)","2024-06-11",null,"Gene3D:2.70.170.10;PDB-ENSP_mappings:6d6t.B;PDB-ENSP_mappings:6d6t.D;PDB-ENSP_mappings:6d6u.B;PDB-ENSP_mappings:6d6u.D;PDB-ENSP_mappings:6huj.A;PDB-ENSP_mappings:6huj.D;PDB-ENSP_mappings:6huk.A;PDB-ENSP_mappings:6huk.D;PDB-ENSP_mappings:6huo.A;PDB-ENSP_mappings:6huo.D;PDB-ENSP_mappings:6hup.A;PDB-ENSP_mappings:6hup.D;PDB-ENSP_mappings:6i53.A;PDB-ENSP_mappings:6i53.D;Pfam:PF02931;PANTHER:PTHR18945;PANTHER:PTHR18945:SF514;Superfamily:SSF63712;TIGRFAM:TIGR00860;CDD:cd19034",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AACATGACCAT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM3853385","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO6",4646,"BI","GRCh38","chr6",75841290,75841290,"+","Missense_Mutation","SNP","G","G","T","rs1217015601",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.728G>T","p.Arg243Ile","p.R243I","ENST00000369981","9/36",58,41,16,58,null,null,"MYO6,missense_variant,p.R243I,ENST00000369981,,c.728G>T,MODERATE,YES,deleterious(0),probably_damaging(0.979),1;MYO6,missense_variant,p.R243I,ENST00000664640,NM_001368865.1,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.979),1;MYO6,missense_variant,p.R243I,ENST00000369977,NM_004999.4,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.979),1;MYO6,missense_variant,p.R243I,ENST00000369985,NM_001300899.2&NM_001368138.1,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;MYO6,missense_variant,p.R243I,ENST00000369975,NM_001368136.1,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,missense_variant,p.R243I,ENST00000615563,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;MYO6,missense_variant,p.R243I,ENST00000672093,NM_001368866.1&NM_001368137.1,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,missense_variant,p.R243I,ENST00000627432,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,missense_variant,p.R243I,ENST00000662603,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;MYO6,missense_variant,p.R243I,ENST00000664209,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;MYO6,missense_variant,p.R243I,ENST00000653423,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;MYO6,missense_variant,p.R243I,ENST00000671923,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,missense_variant,p.R243I,ENST00000653917,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,missense_variant,p.R243I,ENST00000663400,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;MYO6,missense_variant,p.R243I,ENST00000662184,,c.728G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MYO6,3_prime_UTR_variant,,ENST00000462633,,c.*270G>T,MODIFIER,,,,1;MYO6,3_prime_UTR_variant,,ENST00000660420,,c.*684G>T,MODIFIER,,,,1","T","ENSG00000196586","ENST00000369981","Transcript","missense_variant","missense_variant","1007/8692","728/3888","243/1295","R/I","aGa/aTa","rs1217015601;COSV64118250;COSV64121986",null,1,"MYO6","HGNC","HGNC:7605","protein_coding","YES",null,"ENSP00000358998",null,"E7EW20.72","UPI0001AE7292",{"$nulls":3},"A1",null,"deleterious(0)","probably_damaging(0.979)","9/36",null,"PROSITE_profiles:PS51456;CDD:cd01382;PANTHER:PTHR13140:SF745;PANTHER:PTHR13140;Gene3D:3.40.850.10;Pfam:PF00063;Gene3D:1.10.10.820;SMART:SM00242;Superfamily:SSF52540",{"$nulls":8},"3.983e-06",0,"2.893e-05",0,0,0,0,0,0,"2.893e-05","gnomAD_AMR",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1;1",1,"GGAAAGAAATT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM3875595;COSM3875596","N","Unknown",{"$nulls":3},"muse;varscan2"]
["BLVRA",644,"BI","GRCh38","chr7",43807020,43807020,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.676A>C","p.Asn226His","p.N226H","ENST00000265523","2024-08-08",68,48,20,101,null,null,"BLVRA,missense_variant,p.N226H,ENST00000402924,NM_001253823.1,c.676A>C,MODERATE,YES,tolerated(0.1),possibly_damaging(0.749),1;BLVRA,missense_variant,p.N226H,ENST00000265523,NM_000712.4,c.676A>C,MODERATE,,tolerated(0.1),possibly_damaging(0.749),1;BLVRA,downstream_gene_variant,,ENST00000486984,,,MODIFIER,,,,1","C","ENSG00000106605","ENST00000265523","Transcript","missense_variant","missense_variant","752/1074","676/891","226/296","N/H","Aac/Cac","COSV55513315",null,1,"BLVRA","HGNC","HGNC:1062","protein_coding",null,"CCDS5472.1","ENSP00000265523","P53004.188","A0A140VJF4.17","UPI0000126937",null,"NM_000712.4","NM_000712.4","P1",null,"tolerated(0.1)","possibly_damaging(0.749)","2024-08-08",null,"PDB-ENSP_mappings:2h63.A;PDB-ENSP_mappings:2h63.B;PDB-ENSP_mappings:2h63.C;PDB-ENSP_mappings:2h63.D;PANTHER:PTHR43377;PANTHER:PTHR43377:SF1;Gene3D:3.30.360.10;Gene3D:3.40.50.720;PIRSF:PIRSF037032;Pfam:PF09166;Superfamily:SSF55347",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AACGAAACAGA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM3881130","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CNTNAP2",26047,"BI","GRCh38","chr7",147903663,147903663,"+","Missense_Mutation","SNP","G","G","A","rs991842796",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.2197G>A","p.Glu733Lys","p.E733K","ENST00000361727","14/24",39,30,9,44,null,null,"CNTNAP2,missense_variant,p.E733K,ENST00000361727,NM_014141.6,c.2197G>A,MODERATE,YES,deleterious(0.03),benign(0.042),1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,,n.2059G>A,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,,n.370G>A,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,,n.1680G>A,MODIFIER,,,,1;CNTNAP2,downstream_gene_variant,,ENST00000636755,,,MODIFIER,,,,1;CNTNAP2,downstream_gene_variant,,ENST00000637654,,,MODIFIER,,,,1;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000455301,,n.132G>A,MODIFIER,,,,1","A","ENSG00000174469","ENST00000361727","Transcript","missense_variant","missense_variant","2273/9454","2197/3996","733/1331","E/K","Gaa/Aaa","rs991842796;COSV62149731;COSV62236322",null,1,"CNTNAP2","HGNC","HGNC:13830","protein_coding","YES","CCDS5889.1","ENSP00000354778","Q9UHC6.195","A0A090N7T7.55","UPI00001285FA","Q9UHC6-1","NM_014141.6","NM_014141.6","P1",null,"deleterious(0.03)","benign(0.042)","14/24",null,"PANTHER:PTHR15036;PANTHER:PTHR15036:SF33;Gene3D:2.60.120.1000",{"$nulls":8},"1.199e-05",0,"8.693e-05",0,0,0,0,0,0,"8.693e-05","gnomAD_AMR",{"$nulls":13},"uncertain_significance","0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1;1",1,"GCATCGAACGC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM1086983","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SEC16A",9919,"BI","GRCh38","chr9",136477202,136477202,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.414G>T","p.Met138Ile","p.M138I","ENST00000313050","2024-01-30",150,92,58,227,null,null,"SEC16A,missense_variant,p.M138I,ENST00000290037,NM_001276418.1,c.414G>T,MODERATE,,tolerated(0.65),benign(0.003),-1;SEC16A,missense_variant,p.M138I,ENST00000313050,NM_014866.2,c.414G>T,MODERATE,YES,tolerated(0.63),benign(0.023),-1;SEC16A,upstream_gene_variant,,ENST00000371706,,,MODIFIER,,,,-1;SEC16A,upstream_gene_variant,,ENST00000431893,,,MODIFIER,,,,-1","A","ENSG00000148396","ENST00000313050","Transcript","missense_variant","missense_variant","488/8806","414/7074","138/2357","M/I","atG/atT","COSV51524183",null,-1,"SEC16A","HGNC","HGNC:29006","protein_coding","YES","CCDS55351.1","ENSP00000325827","O15027.174",null,"UPI0000F0888B","O15027-1","NM_014866.2",null,"P3",null,"tolerated(0.63)","benign(0.023)","2024-01-30",null,"PANTHER:PTHR13402;PANTHER:PTHR13402:SF13;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"CTGTTCATCTC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM3905735;COSM3905736","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EIF3A",8661,"BI","GRCh38","chr10",119065566,119065566,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.955T>C","p.Ser319Pro","p.S319P","ENST00000369144","2024-07-22",116,77,39,153,null,null,"EIF3A,missense_variant,p.S319P,ENST00000369144,NM_003750.4,c.955T>C,MODERATE,YES,deleterious(0),benign(0.237),-1;EIF3A,missense_variant,p.S319P,ENST00000541549,,c.955T>C,MODERATE,,deleterious(0),benign(0.237),-1;AL355598.1,upstream_gene_variant,,ENST00000410656,,,MODIFIER,YES,,,-1","G","ENSG00000107581","ENST00000369144","Transcript","missense_variant","missense_variant","1096/6659","955/4149","319/1382","S/P","Tct/Cct","COSV64960839",null,-1,"EIF3A","HGNC","HGNC:3271","protein_coding","YES","CCDS7608.1","ENSP00000358140","Q14152.198",null,"UPI000012D311","Q14152-1","NM_003750.4","NM_003750.4","P1",null,"deleterious(0)","benign(0.237)","2024-07-22",null,"PDB-ENSP_mappings:3j8b.A;PDB-ENSP_mappings:3j8c.A;HAMAP:MF_03000;PROSITE_profiles:PS50250;PANTHER:PTHR14005:SF0;PANTHER:PTHR14005;Gene3D:1.25.40.860",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGTAGACATTC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4012065","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SF3B2",10992,"BI","GRCh38","chr11",66058852,66058852,"+","Missense_Mutation","SNP","G","G","A","rs1401467442",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.989G>A","p.Arg330Gln","p.R330Q","ENST00000322535","2024-10-22",73,54,19,84,null,null,"SF3B2,missense_variant,p.R330Q,ENST00000322535,NM_006842.3,c.989G>A,MODERATE,YES,tolerated(0.08),benign(0.068),1;SF3B2,missense_variant,p.R313Q,ENST00000528302,,c.938G>A,MODERATE,,tolerated(0.06),benign(0.069),1;SF3B2,missense_variant,p.R324Q,ENST00000530322,,c.971G>A,MODERATE,,tolerated(0.17),possibly_damaging(0.471),1;SF3B2,missense_variant,p.R328Q,ENST00000533595,,c.983G>A,MODERATE,,tolerated_low_confidence(0.34),benign(0.069),1;SF3B2,downstream_gene_variant,,ENST00000524475,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000524627,,,MODIFIER,,,,1;SF3B2,upstream_gene_variant,,ENST00000530981,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000533421,,,MODIFIER,,,,1;SF3B2,non_coding_transcript_exon_variant,,ENST00000529994,,n.246G>A,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000525207,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000526653,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000531041,,,MODIFIER,,,,1;SF3B2,downstream_gene_variant,,ENST00000531589,,,MODIFIER,,,,1","A","ENSG00000087365","ENST00000322535","Transcript","missense_variant","missense_variant","1010/3272","989/2688","330/895","R/Q","cGa/cAa","rs1401467442;COSV59427490",null,1,"SF3B2","HGNC","HGNC:10769","protein_coding","YES","CCDS31612.1","ENSP00000318861","Q13435.192",null,"UPI00001C1F20",null,"NM_006842.3","NM_006842.3","P3",null,"tolerated(0.08)","benign(0.068)","2024-10-22",null,"PDB-ENSP_mappings:5z56.2;PDB-ENSP_mappings:5z57.2;PDB-ENSP_mappings:5z58.2;PDB-ENSP_mappings:6ah0.2;PDB-ENSP_mappings:6ff4.8;PDB-ENSP_mappings:6ff7.8;PDB-ENSP_mappings:6qx9.B2;PANTHER:PTHR12785;PANTHER:PTHR12785:SF6;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":8},"8.009e-06",0,0,0,0,0,"8.84e-06",0,"3.284e-05","3.284e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GAACCGAAAGA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4035630","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TMEM52B",120939,"BI","GRCh38","chr12",10186505,10186505,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.223A>C","p.Asn75His","p.N75H","ENST00000381923","2024-05-06",99,65,34,114,null,null,"TMEM52B,missense_variant,p.N55H,ENST00000298530,NM_153022.4,c.163A>C,MODERATE,,tolerated(0.65),possibly_damaging(0.568),1;TMEM52B,missense_variant,p.N75H,ENST00000381923,NM_001079815.1,c.223A>C,MODERATE,YES,tolerated(0.57),possibly_damaging(0.66),1;TMEM52B,missense_variant,p.N75H,ENST00000543484,,c.223A>C,MODERATE,,tolerated(0.09),possibly_damaging(0.66),1;TMEM52B,non_coding_transcript_exon_variant,,ENST00000546153,,n.109A>C,MODIFIER,,,,1","C","ENSG00000165685","ENST00000381923","Transcript","missense_variant","missense_variant","627/2601","223/552","75/183","N/H","Aat/Cat","COSV53727745",null,1,"TMEM52B","HGNC","HGNC:26438","protein_coding","YES","CCDS66314.1","ENSP00000371348","Q4KMG9.99",null,"UPI000003777F","Q4KMG9-1","NM_001079815.1",null,"P2",null,"tolerated(0.57)","possibly_damaging(0.66)","2024-05-06",null,"PANTHER:PTHR33955:SF1;PANTHER:PTHR33955;Pfam:PF14979",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"AGCAAAATGGG","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4038104;COSM4038105","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MTUS2",23281,"BI","GRCh38","chr13",29033943,29033943,"+","Missense_Mutation","SNP","T","T","C","rs200475426",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.2264T>C","p.Val755Ala","p.V755A","ENST00000612955","2024-04-16",54,35,19,56,null,null,"MTUS2,missense_variant,p.V755A,ENST00000612955,NM_001366650.1&NM_001366651.1&NM_001033602.3,c.2264T>C,MODERATE,YES,deleterious(0.02),probably_damaging(0.997),1","C","ENSG00000132938","ENST00000612955","Transcript","missense_variant","missense_variant","2843/7430","2264/4110","755/1369","V/A","gTc/gCc","rs200475426",null,1,"MTUS2","HGNC","HGNC:20595","protein_coding","YES",null,"ENSP00000483729","Q5JR59.136",null,"UPI0000E00F4A","Q5JR59-2","NM_001366650.1;NM_001366651.1;NM_001033602.3",{"$nulls":3},"deleterious(0.02)","probably_damaging(0.997)","2024-04-16",null,"PANTHER:PTHR24200;PANTHER:PTHR24200:SF14",0.0002,0,0,0,1E-3,0,0,0.0003621,"9.629e-05",0,"2.898e-05",0,0,"9.282e-05",0.0001858,0,0,1E-3,"EUR",1.01411998912226E-4,"7.297140109585598e-05",0,0,0,0,0,0,0.00018520800222177,0,0,0.00018520800222177,"nfe",{"$nulls":9},"MODERATE",1,"SNV",5,{"$nulls":3},"TGAAGTCCCTC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4046936","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FRMD6",122786,"BI","GRCh38","chr14",51708115,51708115,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.596A>G","p.His199Arg","p.H199R","ENST00000344768","2024-07-14",72,56,16,85,null,null,"FRMD6,missense_variant,p.H191R,ENST00000395718,NM_152330.4,c.572A>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;FRMD6,missense_variant,p.H199R,ENST00000344768,NM_001267046.2,c.596A>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;FRMD6,missense_variant,p.H191R,ENST00000356218,NM_001042481.3,c.572A>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;FRMD6,missense_variant,p.H89R,ENST00000557405,,c.266A>G,MODERATE,,deleterious(0),possibly_damaging(0.877),1;FRMD6,upstream_gene_variant,,ENST00000555197,,,MODIFIER,,,,1;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,,n.119A>G,MODIFIER,,,,1;FRMD6,non_coding_transcript_exon_variant,,ENST00000554167,,n.502A>G,MODIFIER,,,,1;FRMD6,non_coding_transcript_exon_variant,,ENST00000554495,,n.356A>G,MODIFIER,,,,1;FRMD6,downstream_gene_variant,,ENST00000555936,,,MODIFIER,,,,1","G","ENSG00000139926","ENST00000344768","Transcript","missense_variant","missense_variant","829/4800","596/1869","199/622","H/R","cAc/cGc","COSV61087082",null,1,"FRMD6","HGNC","HGNC:19839","protein_coding","YES","CCDS58318.1","ENSP00000343899","Q96NE9.153",null,"UPI00000473F6","Q96NE9-1","NM_001267046.2","NM_001267046.2","A2",null,"deleterious(0)","probably_damaging(0.998)","2024-07-14",null,"Gene3D:1.20.80.10;Pfam:PF00373;PROSITE_profiles:PS50057;PANTHER:PTHR23280;PANTHER:PTHR23280:SF9;SMART:SM00295;Superfamily:SSF47031;CDD:cd14473",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"GAAGCACATTC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4051223;COSM4051224","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RYR3",6263,"BI","GRCh38","chr15",33613183,33613183,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.2165G>A","p.Gly722Asp","p.G722D","ENST00000389232","19/104",22,16,6,38,null,null,"RYR3,missense_variant,p.G722D,ENST00000634891,NM_001036.6,c.2165G>A,MODERATE,,deleterious(0),probably_damaging(1),1;RYR3,missense_variant,p.G722D,ENST00000622037,,c.2165G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;RYR3,missense_variant,p.G722D,ENST00000415757,NM_001243996.3,c.2165G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;RYR3,missense_variant,p.G722D,ENST00000389232,,c.2165G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;RYR3,missense_variant,p.G722D,ENST00000634418,,c.2165G>A,MODERATE,,deleterious(0),probably_damaging(1),1","A","ENSG00000198838","ENST00000389232","Transcript","missense_variant","missense_variant;splice_region_variant","2235/15552","2165/14610","722/4869","G/D","gGc/gAc","COSV66782674",null,1,"RYR3","HGNC","HGNC:10485","protein_coding",null,null,"ENSP00000373884",null,"A0A0X1KG73.25","UPI000719A1B2",{"$nulls":3},"A2",null,"deleterious(0)","probably_damaging(0.997)","19/104",null,"Gene3D:2.60.120.920;Pfam:PF00622;Prints:PR00795;PROSITE_profiles:PS50188;PANTHER:PTHR12864;PANTHER:PTHR12864:SF46;SMART:SM00449;Superfamily:SSF48371;Superfamily:SSF49899;CDD:cd12877",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"ACCAGGCCGGA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4054042","N","Unknown",{"$nulls":3},"muse;mutect2"]
["PHKB",5257,"BI","GRCh38","chr16",47689103,47689103,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.2693A>T","p.Asp898Val","p.D898V","ENST00000323584","27/31",108,80,28,126,null,null,"PHKB,missense_variant,p.D898V,ENST00000299167,NM_001363837.1,c.2693A>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.891),1;PHKB,missense_variant,p.D898V,ENST00000323584,NM_000293.3,c.2693A>T,MODERATE,,deleterious(0.02),possibly_damaging(0.546),1;PHKB,missense_variant,p.D891V,ENST00000566044,NM_001031835.3,c.2672A>T,MODERATE,,deleterious(0.02),possibly_damaging(0.891),1;PHKB,non_coding_transcript_exon_variant,,ENST00000566319,,n.1509A>T,MODIFIER,,,,1","T","ENSG00000102893","ENST00000323584","Transcript","missense_variant","missense_variant","2713/5459","2693/3282","898/1093","D/V","gAc/gTc","COSV54517712",null,1,"PHKB","HGNC","HGNC:8927","protein_coding",null,"CCDS10729.1","ENSP00000313504","Q93100.187",null,"UPI0000141140","Q93100-1","NM_000293.3","NM_000293.3","A1",null,"deleterious(0.02)","possibly_damaging(0.546)","27/31",null,"PANTHER:PTHR10749;PANTHER:PTHR10749:SF8",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"CTTGGACTTGT","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4060863;COSM4060865","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FBXW10",10517,"BI","GRCh38","chr17",18749914,18749914,"+","Missense_Mutation","SNP","A","A","G","rs749037300",null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.863A>G","p.Tyr288Cys","p.Y288C","ENST00000395665","2024-03-14",275,226,48,344,null,null,"FBXW10,missense_variant,p.Y288C,ENST00000308799,,c.863A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;FBXW10,missense_variant,p.Y288C,ENST00000395665,NM_001267585.2,c.863A>G,MODERATE,,deleterious(0),probably_damaging(0.996),1;FBXW10,missense_variant,p.Y288C,ENST00000301938,NM_001267586.2,c.863A>G,MODERATE,,deleterious(0),probably_damaging(0.998),1;FBXW10,3_prime_UTR_variant,,ENST00000574478,,c.*918A>G,MODIFIER,,,,1","G","ENSG00000171931","ENST00000395665","Transcript","missense_variant","missense_variant","1054/3401","863/3159","288/1052","Y/C","tAc/tGc","rs749037300;COSV57315835",null,1,"FBXW10","HGNC","HGNC:1211","protein_coding",null,"CCDS11199.3","ENSP00000379025","Q5XX13.127",null,"UPI0000200B30","Q5XX13-1","NM_001267585.2","NM_001267585.2","P4",null,"deleterious(0)","probably_damaging(0.996)","2024-03-14",null,"Gene3D:1.20.1280.50;PANTHER:PTHR19872;PANTHER:PTHR19872:SF7;Superfamily:SSF81383",{"$nulls":8},"7.974e-06",0,0,0,0,0,0,0,"6.535e-05","6.535e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CAAGTACATTC","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4064550;COSM4064551","N","Unknown",{"$nulls":3},"muse;varscan2"]
["MUC16",94025,"BI","GRCh38","chr19",8935473,8935473,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.35482A>G","p.Thr11828Ala","p.T11828A","ENST00000397910","5/84",65,51,14,101,null,null,"MUC16,missense_variant,p.T11828A,ENST00000397910,NM_024690.2,c.35482A>G,MODERATE,YES,deleterious_low_confidence(0.04),possibly_damaging(0.758),-1","C","ENSG00000181143","ENST00000397910","Transcript","missense_variant","missense_variant","35686/43816","35482/43524","11828/14507","T/A","Act/Gct","COSV67455016",null,-1,"MUC16","HGNC","HGNC:15582","protein_coding","YES","CCDS54212.1","ENSP00000381008","Q8WXI7.134",null,"UPI000065CA24",null,"NM_024690.2",null,"P1",null,"deleterious_low_confidence(0.04)","possibly_damaging(0.758)","5/84",null,"PANTHER:PTHR14672",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"TCCAGTTACAA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4083203;COSM4083204","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYPOP",339344,"BI","GRCh38","chr19",45890623,45890623,"+","Nonstop_Mutation","SNP","T","T","C",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.1200A>G","p.Ter400TrpextTer45","p.*400Wext*45","ENST00000322217","2024-03-03",73,15,58,127,null,null,"MYPOP,stop_lost,p.*400Wext*45,ENST00000322217,NM_001012643.4,c.1200A>G,HIGH,YES,,,-1;IRF2BP1,upstream_gene_variant,,ENST00000302165,NM_015649.3,,MODIFIER,YES,,,-1","C","ENSG00000176182","ENST00000322217","Transcript","stop_lost","stop_lost","1296/1896","1200/1200","400/399","*/W","tgA/tgG","COSV56193155",null,-1,"MYPOP","HGNC","HGNC:20178","protein_coding","YES","CCDS33055.1","ENSP00000325402","Q86VE0.133",null,"UPI00001984F8",null,"NM_001012643.4","NM_001012643.4","P1",{"$nulls":3},"2024-03-03",{"$nulls":35},1,{"$nulls":7},"HIGH",1,"SNV",1,null,1,null,"AGATTTCACGG","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4079488","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NEXMIF",340533,"BI","GRCh38","chrX",74745619,74745619,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-8680","TCGA-BR-8680-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"97474881-be38-42b2-882b-84bbe90efc52","603fc7a3-b983-4a39-8646-d52f55141734","c.32C>T","p.Ala11Val","p.A11V","ENST00000055682","2024-02-04",26,9,16,39,null,null,"NEXMIF,missense_variant,p.A11V,ENST00000642681,,c.32C>T,MODERATE,,deleterious_low_confidence(0),benign(0.41),-1;NEXMIF,missense_variant,p.A11V,ENST00000055682,NM_001008537.3,c.32C>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.41),-1;NEXMIF,missense_variant,p.A11V,ENST00000616200,,c.32C>T,MODERATE,,deleterious_low_confidence(0),benign(0.41),-1","A","ENSG00000050030","ENST00000055682","Transcript","missense_variant","missense_variant","649/11717","32/4551","11/1516","A/V","gCc/gTc","COSV50024443",null,-1,"NEXMIF","HGNC","HGNC:29433","protein_coding","YES","CCDS35337.1","ENSP00000055682","Q5QGS0.126",null,"UPI00001C207B",null,"NM_001008537.3","NM_001008537.3","P1",null,"deleterious_low_confidence(0)","benign(0.41)","2024-02-04",null,"PANTHER:PTHR46946",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CTGAGGCAACA","f1d1dced-e32c-4cdd-a325-07cd90c99745","6c69e4f1-8994-40df-855c-59e0350ef099","ab76544e-df6a-4b05-9317-054812474d4c",null,"COSM4111068","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR4C16",219428,"BI","GRCh38","chr11",55572210,55572210,"+","Frame_Shift_Del","DEL","T","T","-","rs752324980",null,"TCGA-CG-5724","TCGA-CG-5724-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"6dac8ca0-f776-4ea2-85c4-aefba4966be7","8c55d79f-356a-4589-8403-cdfed8311550","c.89del","p.Leu30CysfsTer13","p.L30Cfs*13","ENST00000623907","2024-01-01",240,142,98,308,null,null,"OR4C16,frameshift_variant,p.L30Cfs*13,ENST00000623907,NM_001004701.2,c.89del,HIGH,YES,,,1","-","ENSG00000279514","ENST00000623907","Transcript","frameshift_variant","frameshift_variant","83/933","83/933","28/310","I/X","aTt/at","rs752324980",null,1,"OR4C16","HGNC","HGNC:15172","protein_coding","YES",null,"ENSP00000485295","Q8NGL9.138",null,"UPI000013F8A8",null,"NM_001004701.2","NM_001004701.2","P1",{"$nulls":3},"2024-01-01",null,"Low_complexity_(Seg):seg;Transmembrane_helices:TMhelix;CDD:cd15939;PANTHER:PTHR26451;PANTHER:PTHR26451:SF223;Gene3D:1.20.1070.10;Superfamily:SSF81321;Prints:PR00237",{"$nulls":8},"3.981e-06","6.154e-05",0,0,0,0,0,0,0,"6.154e-05","gnomAD_AFR","6.787300208088709e-06","2.444990059302654e-05",0,0,0,0,0,0,0,0,0,{"$nulls":11},"HIGH",1,"deletion",null,6,null,null,"TTGTTATTTTTT","d16c3161-b6a5-471c-9a1d-a336371dcb8b","1ac0b7be-5296-4347-8391-9e4fa7dc0131","0b4e8d73-459d-4930-9d1a-abb8d53e1844",null,"COSM1354423","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TTN",7273,"BI","GRCh38","chr2",178722126,178722126,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-CD-A4MI","TCGA-CD-A4MI-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"2ae40034-9f70-4e54-9cb6-9cc245d004fa","09571074-d3af-4948-af81-67e8e6a02f50","c.21586A>G","p.Lys7196Glu","p.K7196E","ENST00000591111","76/313",202,177,25,193,null,null,"TTN,missense_variant,p.K7513E,ENST00000589042,NM_001267550.2,c.22537A>G,MODERATE,YES,,benign(0.083),-1;TTN,missense_variant,p.K7196E,ENST00000591111,,c.21586A>G,MODERATE,,,benign(0.083),-1;TTN,missense_variant,p.K6269E,ENST00000342992,NM_133378.4&NM_001256850.1,c.18805A>G,MODERATE,,,benign(0.136),-1;TTN,intron_variant,,ENST00000342175,NM_133437.4,c.13858+15956A>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000359218,NM_133432.3,c.13657+15956A>G,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000460472,NM_003319.4,c.13282+15956A>G,MODIFIER,,,,-1;TTN-AS1,intron_variant,,ENST00000585451,,n.199-38814T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590773,,n.684-12378T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.136-12378T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000653807,,n.416-12378T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000657023,,n.315-15808T>C,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000659121,,n.503-12378T>C,MODIFIER,YES,,,1;AC010680.1,upstream_gene_variant,,ENST00000590024,,,MODIFIER,YES,,,1","C","ENSG00000155657","ENST00000591111","Transcript","missense_variant","missense_variant","21811/104301","21586/103053","7196/34350","K/E","Aaa/Gaa","COSV59888701",null,-1,"TTN","HGNC","HGNC:12403","protein_coding",null,null,"ENSP00000465570","Q8WZ42.192",null,"UPI00025287CD","Q8WZ42-1",{"$nulls":5},"benign(0.083)","76/313",null,"Gene3D:2.60.40.10;PANTHER:PTHR13817;PANTHER:PTHR13817:SF10",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"AGATTTCTTGG","281c2ce1-fe9d-45f6-93ac-e9069e755254","f0dd778e-703f-44ee-b108-cff3542737ba","cda6d95c-be6a-485e-ba9a-c57f3eb3f99a",null,"COSM4088805;COSM4088806","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HYAL3",8372,"BI","GRCh38","chr3",50293289,50293289,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CD-A4MI","TCGA-CD-A4MI-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"2ae40034-9f70-4e54-9cb6-9cc245d004fa","09571074-d3af-4948-af81-67e8e6a02f50","c.1211C>T","p.Pro404Leu","p.P404L","ENST00000336307","2024-04-04",113,92,20,93,null,null,"HYAL3,missense_variant,p.P404L,ENST00000336307,NM_003549.4,c.1211C>T,MODERATE,YES,tolerated(0.1),benign(0.065),-1;HYAL3,missense_variant,p.P404L,ENST00000621157,NM_001200029.2,c.1211C>T,MODERATE,,tolerated(0.1),benign(0.065),-1;HYAL3,missense_variant,p.P374L,ENST00000359051,,c.1121C>T,MODERATE,,tolerated(0.09),benign(0.229),-1;HYAL3,missense_variant,p.P374L,ENST00000450982,NM_001200030.2,c.1121C>T,MODERATE,,tolerated(0.09),benign(0.229),-1;HYAL3,missense_variant,p.P155L,ENST00000415204,NM_001200031.2,c.464C>T,MODERATE,,tolerated(0.14),benign(0.137),-1;HYAL3,missense_variant,p.P125L,ENST00000513170,NM_001200032.2,c.374C>T,MODERATE,,tolerated(0.1),benign(0.137),-1;NAA80,downstream_gene_variant,,ENST00000354862,NM_012191.4,,MODIFIER,YES,,,-1;NAA80,downstream_gene_variant,,ENST00000417393,NM_001200018.2,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4,,MODIFIER,YES,,,-1;IFRD2,upstream_gene_variant,,ENST00000426499,,,MODIFIER,,,,-1;HYAL3,downstream_gene_variant,,ENST00000435141,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000436390,,,MODIFIER,,,,-1;NAA80,downstream_gene_variant,,ENST00000442620,,,MODIFIER,,,,-1;NAA80,downstream_gene_variant,,ENST00000443094,NM_001200016.2,,MODIFIER,,,,-1;NAA80,downstream_gene_variant,,ENST00000443842,,,MODIFIER,,,,-1;NAA80,downstream_gene_variant,,ENST00000450489,,,MODIFIER,,,,-1;NAA80,downstream_gene_variant,,ENST00000452674,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000468737,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000484043,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000414734,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000438296,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000462001,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000464258,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000469855,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000474556,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000483071,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000486322,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000489569,,,MODIFIER,,,,-1;IFRD2,upstream_gene_variant,,ENST00000492387,,,MODIFIER,,,,-1","A","ENSG00000186792","ENST00000336307","Transcript","missense_variant","missense_variant","1421/1878","1211/1254","404/417","P/L","cCc/cTc","COSV60186358",null,-1,"HYAL3","HGNC","HGNC:5322","protein_coding","YES","CCDS2815.1","ENSP00000337425","O43820.156",null,"UPI000006E0AC","O43820-1","NM_003549.4","NM_003549.4","P1",null,"tolerated(0.1)","benign(0.065)","2024-04-04",null,"PANTHER:PTHR11769:SF19;PANTHER:PTHR11769;PIRSF:PIRSF500776;Gene3D:3.20.20.70",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGGTGGGGCCA","281c2ce1-fe9d-45f6-93ac-e9069e755254","f0dd778e-703f-44ee-b108-cff3542737ba","cda6d95c-be6a-485e-ba9a-c57f3eb3f99a",null,"COSM4118739","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FGFR2",2263,"BI","GRCh38","chr10",121565545,121565545,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-CD-A4MI","TCGA-CD-A4MI-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"2ae40034-9f70-4e54-9cb6-9cc245d004fa","09571074-d3af-4948-af81-67e8e6a02f50","c.269A>C","p.Glu90Ala","p.E90A","ENST00000358487","2024-03-18",167,150,17,153,null,null,"FGFR2,missense_variant,p.E90A,ENST00000358487,NM_000141.5,c.269A>C,MODERATE,,tolerated(0.37),benign(0.007),-1;FGFR2,missense_variant,p.E90A,ENST00000369061,NM_001144914.1,c.269A>C,MODERATE,,tolerated(0.79),benign(0.124),-1;FGFR2,missense_variant,p.E90A,ENST00000369060,NM_001144917.2,c.269A>C,MODERATE,,tolerated(0.78),benign(0.089),-1;FGFR2,missense_variant,p.E90A,ENST00000457416,NM_022970.3,c.269A>C,MODERATE,YES,tolerated(0.39),benign(0.167),-1;FGFR2,missense_variant,p.E90A,ENST00000369058,,c.269A>C,MODERATE,,tolerated(0.34),benign(0.167),-1;FGFR2,missense_variant,p.E90A,ENST00000369056,NM_001144913.1,c.269A>C,MODERATE,,tolerated(0.38),benign(0.007),-1;FGFR2,missense_variant,p.E90A,ENST00000351936,,c.269A>C,MODERATE,,tolerated(0.36),benign(0.087),-1;FGFR2,missense_variant,p.E90A,ENST00000346997,NM_001320658.2,c.269A>C,MODERATE,,tolerated(0.35),benign(0.103),-1;FGFR2,missense_variant,p.E90A,ENST00000359354,,c.269A>C,MODERATE,,tolerated(0.14),benign(0.049),-1;FGFR2,missense_variant,p.E73A,ENST00000613324,,c.218A>C,MODERATE,,tolerated(0.07),possibly_damaging(0.72),-1;FGFR2,intron_variant,,ENST00000336553,,c.110-966A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000356226,NM_001144916.1&NM_001144918.2,c.110-14086A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000357555,NM_001144915.1,c.110-966A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000360144,NM_001144919.2,c.110-966A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000369059,,c.110-14086A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000611527,,c.110-966A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000613048,NM_023029.2,c.110-966A>C,MODIFIER,,,,-1;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,,n.530A>C,MODIFIER,,,,-1;FGFR2,non_coding_transcript_exon_variant,,ENST00000491475,,n.367A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000604236,,c.110-14086A>C,MODIFIER,,,,-1;FGFR2,intron_variant,,ENST00000636922,,c.177+92A>C,MODIFIER,,,,-1","G","ENSG00000066468","ENST00000358487","Transcript","missense_variant","missense_variant","902/4624","269/2466","90/821","E/A","gAg/gCg","COSV60639932",null,-1,"FGFR2","HGNC","HGNC:3689","protein_coding",null,"CCDS31298.1","ENSP00000351276","P21802.253",null,"UPI000012A72A","P21802-1","NM_000141.5","NM_000141.5","A2",null,"tolerated(0.37)","benign(0.007)","2024-03-18",null,"CDD:cd04973;Gene3D:2.60.40.10;PIRSF:PIRSF000628;SMART:SM00409;SMART:SM00408;Superfamily:SSF48726;PROSITE_profiles:PS50835;PANTHER:PTHR24416;PANTHER:PTHR24416:SF130",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"AGTACTCCCCA","281c2ce1-fe9d-45f6-93ac-e9069e755254","f0dd778e-703f-44ee-b108-cff3542737ba","cda6d95c-be6a-485e-ba9a-c57f3eb3f99a",null,"COSM4012203;COSM4012204;COSM4012205;COSM4012206;COSM4012207","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MPG",4350,"BI","GRCh38","chr16",85515,85515,"+","Missense_Mutation","SNP","G","G","A","rs142373562",null,"TCGA-CD-A4MI","TCGA-CD-A4MI-10A-01D-A25E-08",{"$nulls":8},"Somatic",{"$nulls":6},"2ae40034-9f70-4e54-9cb6-9cc245d004fa","09571074-d3af-4948-af81-67e8e6a02f50","c.635G>A","p.Arg212His","p.R212H","ENST00000219431","2024-05-05",95,81,14,72,null,null,"MPG,missense_variant,p.R212H,ENST00000219431,NM_002434.4,c.635G>A,MODERATE,YES,tolerated(0.33),benign(0.006),1;MPG,missense_variant,p.R195H,ENST00000397817,NM_001015054.2,c.584G>A,MODERATE,,tolerated(0.42),benign(0.006),1;MPG,missense_variant,p.R207H,ENST00000356432,NM_001015052.3,c.620G>A,MODERATE,,tolerated(0.33),benign(0.009),1;MPG,missense_variant,p.R195H,ENST00000436333,,c.584G>A,MODERATE,,tolerated(0.36),benign(0.006),1;NPRL3,3_prime_UTR_variant,,ENST00000611875,NM_001077350.3&NM_001243247.1,c.*1190C>T,MODIFIER,YES,,,-1;NPRL3,downstream_gene_variant,,ENST00000399953,NM_001243248.1&NM_001039476.2&NM_001243249.1,,MODIFIER,,,,-1;NPRL3,3_prime_UTR_variant,,ENST00000622194,,c.*2536C>T,MODIFIER,,,,-1;NPRL3,intron_variant,,ENST00000610509,,n.2593-920C>T,MODIFIER,,,,-1;NPRL3,downstream_gene_variant,,ENST00000621703,,,MODIFIER,,,,-1","A","ENSG00000103152","ENST00000219431","Transcript","missense_variant","missense_variant","866/1193","635/897","212/298","R/H","cGc/cAc","rs142373562",null,1,"MPG","HGNC","HGNC:7211","protein_coding","YES","CCDS32346.1","ENSP00000219431","P29372.213","Q1W6H1.123","UPI000002A2C0","P29372-1","NM_002434.4",null,"A2",null,"tolerated(0.33)","benign(0.006)","2024-05-05",null,"PDB-ENSP_mappings:1bnk.A;PDB-ENSP_mappings:1ewn.A;PDB-ENSP_mappings:1f4r.A;PDB-ENSP_mappings:1f6o.A;PDB-ENSP_mappings:3qi5.A;PDB-ENSP_mappings:3qi5.B;PDB-ENSP_mappings:3uby.A;PDB-ENSP_mappings:3uby.B;HAMAP:MF_00527;CDD:cd00540;PANTHER:PTHR10429;Gene3D:3.10.300.10;Pfam:PF02245;TIGRFAM:TIGR00567;Superfamily:SSF50486",0.0006,2.3E-3,0,0,0,0,0.000227,0,"4.387e-05",0.0004947,0,0,0,0,"1.766e-05",0,"3.267e-05",2.3E-3,"AFR",0.000148642997373826,0.000534655002411454,0,0,0,0,0,0,0,0,0,0.000534655002411454,"afr",{"$nulls":9},"MODERATE",1,"SNV",3,{"$nulls":3},"GGACCGCGAGC","281c2ce1-fe9d-45f6-93ac-e9069e755254","f0dd778e-703f-44ee-b108-cff3542737ba","cda6d95c-be6a-485e-ba9a-c57f3eb3f99a",null,"COSM2143480","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PLEKHA6",22874,"BI","GRCh38","chr1",204230524,204230525,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-IN-A6RR","TCGA-IN-A6RR-10A-01D-A32N-08",{"$nulls":8},"Somatic",{"$nulls":6},"030186a3-4c51-4835-bc8f-2301b10aa0ad","6019dd4f-63a8-4fe0-82c4-f77a19d397a7","c.2471dup","p.Ile825AspfsTer2","p.I825Dfs*2","ENST00000272203","18/23",26,15,11,18,null,null,"PLEKHA6,frameshift_variant,p.I825Dfs*2,ENST00000272203,NM_014935.5,c.2471dup,HIGH,,,,-1;PLEKHA6,frameshift_variant,p.I949Dfs*2,ENST00000637508,,c.2843dup,HIGH,YES,,,-1;PLEKHA6,frameshift_variant,p.I845Dfs*2,ENST00000414478,,c.2531dup,HIGH,,,,-1","T","ENSG00000143850","ENST00000272203","Transcript","frameshift_variant","frameshift_variant","2801-2802/7412","2471-2472/3147","824/1048","Q/QX","cag/caAg",null,null,-1,"PLEKHA6","HGNC","HGNC:17053","protein_coding",null,"CCDS1444.1","ENSP00000272203","Q9Y2H5.146",null,"UPI000013D935",null,"NM_014935.5","NM_014935.5","A2",{"$nulls":3},"18/23",null,"PANTHER:PTHR12752;PANTHER:PTHR12752:SF5;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":41},"HIGH",null,"insertion",1,{"$nulls":3},"TCAATCTGCTC","de6a63ea-95d6-4071-8e75-ebb10e78a027","e71367cc-937b-4b28-9373-a98ec1ba7ea7","7ab5a708-803f-4d8c-9b25-645f06851a26",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["ZNF454",285676,"BI","GRCh38","chr5",178964972,178964972,"+","Missense_Mutation","SNP","A","A","G","rs1021026896",null,"TCGA-HU-8604","TCGA-HU-8604-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2ffbf151-e573-440e-8950-6f3404f84402","61ee42d5-0a9d-4c64-a20a-93bfcdba7a11","c.568A>G","p.Ser190Gly","p.S190G","ENST00000320129","2024-05-05",47,38,9,70,null,null,"ZNF454,missense_variant,p.S190G,ENST00000519564,NM_001178089.3&NM_001323306.2&NM_001323307.2&NM_001323308.2,c.568A>G,MODERATE,YES,tolerated(0.21),benign(0.001),1;ZNF454,missense_variant,p.S190G,ENST00000320129,NM_182594.4&NM_001178090.3&NM_001323310.2&NM_001323309.2,c.568A>G,MODERATE,,tolerated(0.21),benign(0.001),1;AC104117.3,upstream_gene_variant,,ENST00000519491,,,MODIFIER,YES,,,1","G","ENSG00000178187","ENST00000320129","Transcript","missense_variant","missense_variant","871/2332","568/1569","190/522","S/G","Agt/Ggt","rs1021026896;COSV60768703",null,1,"ZNF454","HGNC","HGNC:21200","protein_coding",null,"CCDS4441.1","ENSP00000326249","Q8N9F8.147",null,"UPI00001407C7",null,"NM_182594.4;NM_001178090.3;NM_001323310.2;NM_001323309.2",null,"P1",null,"tolerated(0.21)","benign(0.001)","2024-05-05",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381:SF288;SMART:SM00355;Superfamily:SSF57667",{"$nulls":8},"3.986e-06","6.198e-05",0,0,0,0,0,0,0,"6.198e-05","gnomAD_AFR","2.702590063563548e-05","9.721009701024741e-05",0,0,0,0,0,0,0,0,0,"9.721009701024741e-05","afr",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",2,null,"0;1",null,"CTAAGAGTTCA","7e0c07f9-70ce-44d4-9135-93f922cef54e","63106d17-90db-4160-8fdc-7177dd2d0709","43945bf6-6e64-4f13-9822-baf30dcd726c",null,"COSM3854138","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["USF1",7391,"BI","GRCh38","chr1",161042589,161042589,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-BR-4257","TCGA-BR-4257-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"936def52-8689-403a-97f4-3dda9f05feb1","7b9f4212-c55d-40c5-9fa9-c8b2713cf775","c.140T>C","p.Val47Ala","p.V47A","ENST00000368020","2024-04-11",38,28,8,42,null,null,"USF1,missense_variant,p.V47A,ENST00000368021,NM_007122.5,c.140T>C,MODERATE,YES,deleterious(0),benign(0.097),-1;USF1,missense_variant,p.V47A,ENST00000368020,NM_001276373.2,c.140T>C,MODERATE,,deleterious(0),benign(0.097),-1;USF1,missense_variant,p.V47A,ENST00000368019,,c.140T>C,MODERATE,,deleterious(0),benign(0.402),-1;USF1,missense_variant,p.V47A,ENST00000531842,,c.140T>C,MODERATE,,deleterious(0),benign(0.304),-1;USF1,5_prime_UTR_variant,,ENST00000534633,,c.-38T>C,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000318289,NM_001113205.2,,MODIFIER,,,,-1;ARHGAP30,downstream_gene_variant,,ENST00000368013,NM_001025598.2,,MODIFIER,YES,,,-1;ARHGAP30,downstream_gene_variant,,ENST00000368015,NM_001287602.2&NM_001287600.2,,MODIFIER,,,,-1;ARHGAP30,downstream_gene_variant,,ENST00000368016,NM_181720.3,,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000368023,,,MODIFIER,YES,,,-1;TSTD1,upstream_gene_variant,,ENST00000368024,NM_001113206.2,,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000423014,NM_001113207.2,,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000466967,,,MODIFIER,,,,-1;USF1,upstream_gene_variant,,ENST00000528768,NM_207005.3,,MODIFIER,,,,-1;USF1,missense_variant,p.V47A,ENST00000473969,,c.140T>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.097),-1;USF1,non_coding_transcript_exon_variant,,ENST00000496363,,n.280T>C,MODIFIER,,,,-1;USF1,non_coding_transcript_exon_variant,,ENST00000491629,,n.276T>C,MODIFIER,,,,-1;USF1,non_coding_transcript_exon_variant,,ENST00000529476,,n.307T>C,MODIFIER,,,,-1;AL591806.2,upstream_gene_variant,,ENST00000289779,,,MODIFIER,YES,,,-1;ARHGAP30,downstream_gene_variant,,ENST00000461003,,,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000462952,,,MODIFIER,,,,-1;AL591806.2,upstream_gene_variant,,ENST00000470694,,,MODIFIER,,,,-1;USF1,upstream_gene_variant,,ENST00000472217,,,MODIFIER,,,,-1;TSTD1,upstream_gene_variant,,ENST00000486084,,,MODIFIER,,,,-1","G","ENSG00000158773","ENST00000368020","Transcript","missense_variant","missense_variant","255/1717","140/933","47/310","V/A","gTc/gCc","COSV99231230",null,-1,"USF1","HGNC","HGNC:12593","protein_coding",null,"CCDS1214.1","ENSP00000356999","P22415.193","A0A0S2Z4U5.28","UPI0000001C35","P22415-1","NM_001276373.2",null,"P1",null,"deleterious(0)","benign(0.097)","2024-04-11",null,"PANTHER:PTHR46117;PANTHER:PTHR46117:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"ACTTGACGTTG","a8cc65b6-aa85-4c09-ba4c-504310539eb0","700d3123-9f4f-4a56-9ee3-cccb25822e7f","da112431-5579-4fd1-a230-9144b359b0e9",null,null,"N","Unknown",{"$nulls":3},"muse;varscan2"]
["KIAA1109",84162,"BI","GRCh38","chr4",122306022,122306022,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-BR-4257","TCGA-BR-4257-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"936def52-8689-403a-97f4-3dda9f05feb1","7b9f4212-c55d-40c5-9fa9-c8b2713cf775","c.9818C>T","p.Ala3273Val","p.A3273V","ENST00000264501","57/86",84,66,18,116,null,null,"KIAA1109,missense_variant,p.A3273V,ENST00000264501,,c.9818C>T,MODERATE,YES,tolerated(0.84),probably_damaging(0.978),1;KIAA1109,missense_variant,p.A3273V,ENST00000388738,NM_015312.3,c.9818C>T,MODERATE,,tolerated(0.84),probably_damaging(0.978),1;KIAA1109,missense_variant,p.A1231V,ENST00000419325,,c.3692C>T,MODERATE,,tolerated(0.97),probably_damaging(0.999),1;KIAA1109,upstream_gene_variant,,ENST00000421930,,,MODIFIER,,,,1;KIAA1109,upstream_gene_variant,,ENST00000438707,,,MODIFIER,,,,1","T","ENSG00000138688","ENST00000264501","Transcript","missense_variant","missense_variant","10191/15896","9818/15018","3273/5005","A/V","gCa/gTa","COSV52691726",null,1,"KIAA1109","HGNC","HGNC:26953","protein_coding","YES","CCDS43267.1","ENSP00000264501","Q2LD37.118",null,"UPI0000DD87B4","Q2LD37-1",null,null,"P1",null,"tolerated(0.84)","probably_damaging(0.978)","57/86",null,"PANTHER:PTHR31640",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"TTATGCACAGC","a8cc65b6-aa85-4c09-ba4c-504310539eb0","700d3123-9f4f-4a56-9ee3-cccb25822e7f","da112431-5579-4fd1-a230-9144b359b0e9",null,"COSM4121818;COSM4121819","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RNF148",378925,"BI","GRCh38","chr7",122701936,122701936,"+","Missense_Mutation","SNP","C","C","T","rs377391654",null,"TCGA-BR-4257","TCGA-BR-4257-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"936def52-8689-403a-97f4-3dda9f05feb1","7b9f4212-c55d-40c5-9fa9-c8b2713cf775","c.815G>A","p.Arg272His","p.R272H","ENST00000434824","2024-01-01",82,68,14,68,null,null,"RNF148,missense_variant,p.R272H,ENST00000434824,NM_198085.2,c.815G>A,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1;RNF148,3_prime_UTR_variant,,ENST00000447240,,c.*105G>A,MODIFIER,,,,-1;CADPS2,intron_variant,,ENST00000313070,NM_001167940.1&NM_001363394.1,c.135+35019G>A,MODIFIER,,,,-1;CADPS2,intron_variant,,ENST00000334010,,c.453+35019G>A,MODIFIER,,,,-1;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3&NM_001363398.1,c.453+35019G>A,MODIFIER,,,,-1;CADPS2,intron_variant,,ENST00000449022,NM_017954.11&NM_001363397.1&NM_001363396.1&NM_001363393.1&NM_001363392.1&NM_001363390.1&NM_001363389.1&NM_001363400.1&NM_001363399.1,c.453+35019G>A,MODIFIER,,,,-1;CADPS2,intron_variant,,ENST00000615869,NM_001363395.1&NM_001363391.1,c.453+35019G>A,MODIFIER,YES,,,-1;RNF133,upstream_gene_variant,,ENST00000340112,NM_139175.2,,MODIFIER,YES,,,-1","T","ENSG00000235631","ENST00000434824","Transcript","missense_variant","missense_variant","987/1255","815/918","272/305","R/H","cGc/cAc","rs377391654;COSV57350295",null,-1,"RNF148","HGNC","HGNC:22411","protein_coding","YES","CCDS47692.1","ENSP00000388207","Q8N7C7.111",null,"UPI000006FF1E",null,"NM_198085.2","NM_198085.2","P1",null,"deleterious(0)","probably_damaging(0.993)","2024-01-01",null,"PROSITE_profiles:PS50089;CDD:cd16802;PANTHER:PTHR22765;PANTHER:PTHR22765:SF53;Gene3D:3.30.40.10;Pfam:PF13639;SMART:SM00184;Superfamily:SSF57850",{"$nulls":8},"8.033e-06",0,0,0,0,0,"8.861e-06",0,"3.268e-05","3.268e-05","gnomAD_SAS","6.761510121577885e-06",0,0,0,0,0,0,0,0,0,2.08247001864947E-4,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"AAATGCGTACT","a8cc65b6-aa85-4c09-ba4c-504310539eb0","700d3123-9f4f-4a56-9ee3-cccb25822e7f","da112431-5579-4fd1-a230-9144b359b0e9",null,"COSM1223908;COSM267342","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ANO1",55107,"BI","GRCh38","chr11",70167286,70167287,"+","Frame_Shift_Ins","INS","-","-","C","novel",null,"TCGA-BR-4257","TCGA-BR-4257-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"936def52-8689-403a-97f4-3dda9f05feb1","7b9f4212-c55d-40c5-9fa9-c8b2713cf775","c.2102dup","p.Asp702Ter","p.D702*","ENST00000355303","21/26",35,26,9,43,null,null,"ANO1,frameshift_variant,p.D702*,ENST00000355303,NM_001378092.1&NM_001378093.1&NM_001378095.1&NM_018043.6&NM_001378094.1&NM_001378097.1,c.2102dup,HIGH,YES,,,1;ANO1,frameshift_variant,p.D411*,ENST00000531349,,c.1229dup,HIGH,,,,1;ANO1,frameshift_variant,p.D556*,ENST00000530676,NM_001378096.1,c.1664dup,HIGH,,,,1;ANO1,downstream_gene_variant,,ENST00000316296,,,MODIFIER,,,,1;ANO1,upstream_gene_variant,,ENST00000525494,,,MODIFIER,,,,1;ANO1,non_coding_transcript_exon_variant,,ENST00000529636,,n.260dup,MODIFIER,,,,1","C","ENSG00000131620","ENST00000355303","Transcript","frameshift_variant","frameshift_variant","2401-2402/4790","2096-2097/2961","699/986","S/SX","agc/agCc",null,null,1,"ANO1","HGNC","HGNC:21625","protein_coding","YES","CCDS44663.1","ENSP00000347454","Q5XXA6.133",null,"UPI000013CE03","Q5XXA6-1","NM_001378092.1;NM_001378093.1;NM_001378095.1;NM_018043.6;NM_001378094.1;NM_001378097.1",null,"P1",{"$nulls":3},"21/26",null,"PANTHER:PTHR12308:SF13;PANTHER:PTHR12308;Pfam:PF04547",{"$nulls":41},"HIGH",1,"insertion",1,6,null,null,"GCAGAGCCCCC","a8cc65b6-aa85-4c09-ba4c-504310539eb0","700d3123-9f4f-4a56-9ee3-cccb25822e7f","da112431-5579-4fd1-a230-9144b359b0e9",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["RPTOR",57521,"BI","GRCh38","chr17",80891756,80891756,"+","Missense_Mutation","SNP","T","T","C","rs768927275",null,"TCGA-BR-4257","TCGA-BR-4257-11A-01D-1126-08",{"$nulls":8},"Somatic",{"$nulls":6},"936def52-8689-403a-97f4-3dda9f05feb1","7b9f4212-c55d-40c5-9fa9-c8b2713cf775","c.2020T>C","p.Tyr674His","p.Y674H","ENST00000306801","18/34",111,79,32,154,null,null,"RPTOR,missense_variant,p.Y674H,ENST00000306801,NM_020761.3,c.2020T>C,MODERATE,YES,deleterious(0),benign(0.031),1;RPTOR,missense_variant,p.Y516H,ENST00000544334,NM_001163034.2,c.1546T>C,MODERATE,,tolerated_low_confidence(0.3),probably_damaging(0.991),1;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,,n.1507T>C,MODIFIER,,,,1;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,,n.2819T>C,MODIFIER,,,,1","C","ENSG00000141564","ENST00000306801","Transcript","missense_variant","missense_variant","2812/6838","2020/4008","674/1335","Y/H","Tat/Cat","rs768927275;COSV60818251",null,1,"RPTOR","HGNC","HGNC:30287","protein_coding","YES","CCDS11773.1","ENSP00000307272","Q8N122.181",null,"UPI000007000F","Q8N122-1","NM_020761.3","NM_020761.3","P1",null,"deleterious(0)","benign(0.031)","18/34",null,"Gene3D:1.25.10.10;PDB-ENSP_mappings:5h64.B;PDB-ENSP_mappings:5h64.b;PDB-ENSP_mappings:6bcu.W;PDB-ENSP_mappings:6bcu.Y;PDB-ENSP_mappings:6bcx.W;PDB-ENSP_mappings:6bcx.Y;PDB-ENSP_mappings:6sb0.N;PDB-ENSP_mappings:6sb0.Y;PDB-ENSP_mappings:6sb2.N;PDB-ENSP_mappings:6sb2.Y;PDB-ENSP_mappings:6u62.A;PANTHER:PTHR12848;Superfamily:SSF48371",{"$nulls":8},"1.591e-05",0,0,0,0,0,0,0,0.0001307,0.0001307,"gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"TTCAGTATGAA","a8cc65b6-aa85-4c09-ba4c-504310539eb0","700d3123-9f4f-4a56-9ee3-cccb25822e7f","da112431-5579-4fd1-a230-9144b359b0e9",null,"COSM4070546","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["HDLBP",3069,"BI","GRCh38","chr2",241236692,241236692,"+","Missense_Mutation","SNP","C","C","T","rs561809495",null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.2827G>A","p.Gly943Ser","p.G943S","ENST00000391975","21/28",146,89,56,128,null,null,"HDLBP,missense_variant,p.G943S,ENST00000391975,NM_001320967.2&NM_203346.5,c.2827G>A,MODERATE,YES,tolerated(0.78),benign(0.003),-1;HDLBP,missense_variant,p.G943S,ENST00000310931,NM_005336.5&NM_001320966.2,c.2827G>A,MODERATE,,tolerated(0.78),benign(0.003),-1;HDLBP,missense_variant,p.G910S,ENST00000427183,NM_001243900.2,c.2728G>A,MODERATE,,tolerated(0.78),benign(0.015),-1;HDLBP,missense_variant,p.G943S,ENST00000391976,NM_001320965.2,c.2827G>A,MODERATE,,tolerated(0.78),benign(0.003),-1;HDLBP,missense_variant,p.G752S,ENST00000373292,,c.2254G>A,MODERATE,,tolerated(0.83),benign(0.053),-1;HDLBP,downstream_gene_variant,,ENST00000427487,,,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000452931,,,MODIFIER,,,,-1;HDLBP,non_coding_transcript_exon_variant,,ENST00000483086,,n.352G>A,MODIFIER,,,,-1;HDLBP,upstream_gene_variant,,ENST00000470482,,,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000471294,,,MODIFIER,,,,-1;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,,n.2412G>A,MODIFIER,,,,-1;HDLBP,non_coding_transcript_exon_variant,,ENST00000479894,,n.80G>A,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000459788,,,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000479169,,,MODIFIER,,,,-1","T","ENSG00000115677","ENST00000391975","Transcript","missense_variant","missense_variant","3055/6372","2827/3807","943/1268","G/S","Ggc/Agc","rs561809495;COSV60500208",null,-1,"HDLBP","HGNC","HGNC:4857","protein_coding","YES","CCDS2547.1","ENSP00000375836",null,"A0A024R4E5.54","UPI0000000C28",null,"NM_001320967.2;NM_203346.5",null,"P1",null,"tolerated(0.78)","benign(0.003)","21/28",null,"Gene3D:3.30.1370.10;Pfam:PF00013;PROSITE_profiles:PS50084;PANTHER:PTHR10627;PANTHER:PTHR10627:SF34;SMART:SM00322;Superfamily:SSF54791;CDD:cd02394",0.0002,0.0008,0,0,0,0,{"$nulls":11},0.0008,"AFR","6.760410087736091e-06","2.4317900169990025e-05",0,0,0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"AGAGCCGGGGT","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,"COSM4093044;COSM4093045","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DENND6A",201627,"BI","GRCh38","chr3",57633296,57633296,"+","Frame_Shift_Del","DEL","A","A","-",null,null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.1322del","p.Leu441TrpfsTer3","p.L441Wfs*3","ENST00000311128","15/20",117,76,41,82,null,null,"DENND6A,frameshift_variant,p.L441Wfs*3,ENST00000311128,NM_152678.3,c.1322del,HIGH,YES,,,-1;DENND6A,frameshift_variant,p.L13Wfs*3,ENST00000471531,,c.36del,HIGH,,,,-1;DENND6A,downstream_gene_variant,,ENST00000477344,,,MODIFIER,,,,-1;DENND6A,upstream_gene_variant,,ENST00000480710,,,MODIFIER,,,,-1;DENND6A-AS1,intron_variant,,ENST00000470427,,n.69+4423del,MODIFIER,YES,,,1","-","ENSG00000174839","ENST00000311128","Transcript","frameshift_variant","frameshift_variant","1381/4646","1322/1827","441/608","L/X","tTg/tg",null,null,-1,"DENND6A","HGNC","HGNC:26635","protein_coding","YES","CCDS33773.1","ENSP00000311401","Q8IWF6.119",null,"UPI00000744F6",null,"NM_152678.3","NM_152678.3","P1",{"$nulls":3},"15/20",null,"PROSITE_profiles:PS50211;PANTHER:PTHR13677;PANTHER:PTHR13677:SF1",{"$nulls":19},"6.768369985366007e-06",0,0,0,0,0,0,0,0,0.000496032007504254,0,{"$nulls":11},"HIGH",1,"deletion",1,{"$nulls":3},"AGTTCCAAAAAA","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,"COSM293631","N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["TRPA1",8989,"BI","GRCh38","chr8",72055689,72055689,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.1361C>T","p.Ala454Val","p.A454V","ENST00000262209","2024-11-27",160,115,44,116,null,null,"TRPA1,missense_variant,p.A454V,ENST00000262209,NM_007332.3,c.1361C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;TRPA1,missense_variant,p.A306V,ENST00000523582,,c.917C>T,MODERATE,,deleterious(0),probably_damaging(0.966),-1;TRPA1,upstream_gene_variant,,ENST00000520788,,,MODIFIER,,,,-1;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000457356,,n.3661G>A,MODIFIER,,,,1;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000655314,,n.3787G>A,MODIFIER,,,,1;MSC-AS1,intron_variant,,ENST00000518916,,n.469+3073G>A,MODIFIER,,,,1;MSC-AS1,intron_variant,,ENST00000519068,,n.448+107G>A,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000512290,,,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000519751,,,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000522519,,,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000524152,,,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000653074,,,MODIFIER,,,,1;MSC-AS1,downstream_gene_variant,,ENST00000670333,,,MODIFIER,,,,1","A","ENSG00000104321","ENST00000262209","Transcript","missense_variant","missense_variant","1536/5191","1361/3360","454/1119","A/V","gCc/gTc","COSV51572189",null,-1,"TRPA1","HGNC","HGNC:497","protein_coding","YES","CCDS34908.1","ENSP00000262209","O75762.161",null,"UPI000021081A",null,"NM_007332.3","NM_007332.3","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-11-27",null,"Gene3D:1.25.40.20;PDB-ENSP_mappings:3j9p.A;PDB-ENSP_mappings:3j9p.B;PDB-ENSP_mappings:3j9p.C;PDB-ENSP_mappings:3j9p.D;PDB-ENSP_mappings:6pqo.A;PDB-ENSP_mappings:6pqo.B;PDB-ENSP_mappings:6pqo.C;PDB-ENSP_mappings:6pqo.D;PDB-ENSP_mappings:6pqp.A;PDB-ENSP_mappings:6pqp.B;PDB-ENSP_mappings:6pqp.C;PDB-ENSP_mappings:6pqp.D;PDB-ENSP_mappings:6pqq.A;PDB-ENSP_mappings:6pqq.B;PDB-ENSP_mappings:6pqq.C;PDB-ENSP_mappings:6pqq.D;PDB-ENSP_mappings:6v9v.A;PDB-ENSP_mappings:6v9v.B;PDB-ENSP_mappings:6v9v.C;PDB-ENSP_mappings:6v9v.D;PDB-ENSP_mappings:6v9w.A;PDB-ENSP_mappings:6v9w.B;PDB-ENSP_mappings:6v9w.C;PDB-ENSP_mappings:6v9w.D;PDB-ENSP_mappings:6v9x.A;PDB-ENSP_mappings:6v9x.B;PDB-ENSP_mappings:6v9x.C;PDB-ENSP_mappings:6v9x.D;PDB-ENSP_mappings:6v9y.A;PDB-ENSP_mappings:6v9y.B;PDB-ENSP_mappings:6v9y.C;PDB-ENSP_mappings:6v9y.D;Pfam:PF12796;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;PANTHER:PTHR24123;PANTHER:PTHR24123:SF83;SMART:SM00248;Superfamily:SSF48403",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACCTGGCTGCA","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,"COSM3901432;COSM3901433","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYRF",745,"BI","GRCh38","chr11",61771541,61771541,"+","Frame_Shift_Del","DEL","C","C","-","rs769274302",null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.789del","p.Ser264AlafsTer8","p.S264Afs*8","ENST00000278836","2024-06-27",304,212,92,208,null,null,"MYRF,frameshift_variant,p.S264Afs*8,ENST00000278836,NM_001127392.3,c.789del,HIGH,YES,,,1;MYRF,frameshift_variant,p.S255Afs*8,ENST00000265460,NM_013279.4,c.762del,HIGH,,,,1;MYRF,frameshift_variant,p.S53Afs*8,ENST00000675319,,c.154del,HIGH,,,,1;TMEM258,intron_variant,,ENST00000535042,,n.648+2438del,MODIFIER,,,,-1;MYRF,downstream_gene_variant,,ENST00000537766,,,MODIFIER,,,,1","-","ENSG00000124920","ENST00000278836","Transcript","frameshift_variant","frameshift_variant","891/5940","782/3456","261/1151","S/X","tCc/tc","rs769274302;COSV53895135",null,1,"MYRF","HGNC","HGNC:1181","protein_coding","YES","CCDS44622.1","ENSP00000278836","Q9Y2G1.133",null,"UPI0000D45F7B","Q9Y2G1-1","NM_001127392.3","NM_001127392.3","P2",{"$nulls":3},"2024-06-27",null,"PROSITE_profiles:PS51517;PANTHER:PTHR13029:SF16;PANTHER:PTHR13029",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",1,"deletion",1,7,"0;1",1,"CTGAATCCCCCC","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,"COSM1355258;COSM4450695","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["CX3CL1",6376,"BI","GRCh38","chr16",57382193,57382193,"+","Frame_Shift_Del","DEL","G","G","-","rs1567554546",null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.359del","p.Gly120GlufsTer42","p.G120Efs*42","ENST00000006053","2024-03-03",95,61,33,59,null,null,"CX3CL1,frameshift_variant,p.G82Efs*42,ENST00000565912,,c.245del,HIGH,,,,1;CX3CL1,frameshift_variant,p.G126Efs*42,ENST00000563383,,c.377del,HIGH,YES,,,1;CX3CL1,frameshift_variant,p.G120Efs*42,ENST00000006053,NM_002996.6&NM_001304392.3,c.359del,HIGH,,,,1;CX3CL1,3_prime_UTR_variant,,ENST00000564948,,c.*70del,MODIFIER,,,,1","-","ENSG00000006210","ENST00000006053","Transcript","frameshift_variant","frameshift_variant","434/3285","355/1194","119/397","G/X","Ggg/gg","rs1567554546;COSV104374993",null,1,"CX3CL1","HGNC","HGNC:10647","protein_coding",null,"CCDS10779.1","ENSP00000006053","P78423.185","A0N0N7.117","UPI0000040685",null,"NM_002996.6;NM_001304392.3","NM_002996.6","P4",{"$nulls":3},"2024-03-03",null,"PANTHER:PTHR12015;PANTHER:PTHR12015:SF92",{"$nulls":8},"4.019e-06",0,0,"9.99e-05",0,0,0,0,0,"9.99e-05","gnomAD_ASJ",{"$nulls":14},"0;1",{"$nulls":7},"HIGH",null,"deletion",1,4,"0;1",null,"GCCGCCGGGGGA","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["PIP5K1C",23396,"BI","GRCh38","chr19",3633496,3633496,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-CG-4442","TCGA-CG-4442-10A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"6c1bbf67-5d74-4404-a6bf-ba7f23de3c29","037b82de-70da-4122-a9b6-0180852a5545","c.1945T>C","p.Tyr649His","p.Y649H","ENST00000335312","17/18",36,22,12,24,null,null,"PIP5K1C,missense_variant,p.Y649H,ENST00000335312,NM_012398.3,c.1945T>C,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),-1;PIP5K1C,intron_variant,,ENST00000539785,NM_001195733.2,c.1921-327T>C,MODIFIER,,,,-1;PIP5K1C,downstream_gene_variant,,ENST00000537021,,,MODIFIER,,,,-1;PIP5K1C,downstream_gene_variant,,ENST00000589578,NM_001300849.2,,MODIFIER,YES,,,-1","G","ENSG00000186111","ENST00000335312","Transcript","missense_variant","missense_variant","2023/5069","1945/2007","649/668","Y/H","Tac/Cac","COSV58955394",null,-1,"PIP5K1C","HGNC","HGNC:8996","protein_coding",null,"CCDS32872.1","ENSP00000335333","O60331.160",null,"UPI000019C574","O60331-1","NM_012398.3","NM_012398.3","A2",null,"deleterious_low_confidence(0)","probably_damaging(0.996)","17/18",null,"PDB-ENSP_mappings:2g35.B;PDB-ENSP_mappings:3h1z.P;PDB-ENSP_mappings:3h85.P",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GGAGTACACCC","7e1dee3e-c8c3-4127-a049-7860b2f01061","8431a8b3-b0c6-4b1d-88d6-78b89d104efd","8fccff71-3710-4cb9-b8af-61707aebe5d8",null,"COSM4077239","N","Unknown",{"$nulls":3},"muse;varscan2"]
["FAT3",120114,"BI","GRCh38","chr11",92883352,92883352,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-BR-4369","TCGA-BR-4369-11A-01D-1158-08",{"$nulls":8},"Somatic",{"$nulls":6},"45e9bc01-ad92-4a4c-bb2d-c54999962c8d","124ae002-8b64-4eac-baa6-ece7e7482b43","c.12896G>A","p.Cys4299Tyr","p.C4299Y","ENST00000409404","23/25",92,30,61,80,null,null,"FAT3,missense_variant,p.C4299Y,ENST00000409404,NM_001008781.3,c.12896G>A,MODERATE,YES,tolerated(0.08),possibly_damaging(0.899),1;FAT3,missense_variant,p.C4149Y,ENST00000525166,NM_001367949.2,c.12446G>A,MODERATE,,tolerated(0.09),probably_damaging(0.915),1;FAT3,missense_variant,p.C634Y,ENST00000533797,,c.1901G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.903),1;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,,n.54G>A,MODIFIER,,,,1;FAT3,upstream_gene_variant,,ENST00000469900,,,MODIFIER,,,,1","A","ENSG00000165323","ENST00000409404","Transcript","missense_variant","missense_variant","12913/19030","12896/13674","4299/4557","C/Y","tGc/tAc","COSV53142811",null,1,"FAT3","HGNC","HGNC:23112","protein_coding","YES",null,"ENSP00000387040","Q8TDW7.142",null,"UPI000050B6C7","Q8TDW7-3","NM_001008781.3",null,"P1",null,"tolerated(0.08)","possibly_damaging(0.899)","23/25",null,"PANTHER:PTHR24026;PANTHER:PTHR24026:SF49",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"CGACTGCGACT","07cb6c6a-2d57-4d98-a2d0-906106f35f8f","4ea7631d-3f5e-4ea3-b6c4-3ee56d843230","fe9a5fcf-ff99-4dd1-8cc7-ed9f4b9d952b",null,"COSM4037625;COSM4037626;COSM4037627","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PCDH1",5097,"BI","GRCh38","chr5",141865231,141865231,"+","Frame_Shift_Del","DEL","T","T","-","novel",null,"TCGA-CG-5734","TCGA-CG-5734-11A-01D-1600-08",{"$nulls":8},"Somatic",{"$nulls":6},"fcf304f6-27f0-4e97-a070-78478cfb3f71","660f9d0f-0fc5-4eb7-b45e-561e05600357","c.1100del","p.Lys367ArgfsTer9","p.K367Rfs*9","ENST00000394536","2024-03-03",189,161,28,206,null,null,"PCDH1,frameshift_variant,p.K367Rfs*9,ENST00000287008,NM_032420.5,c.1100del,HIGH,YES,,,-1;PCDH1,frameshift_variant,p.K367Rfs*9,ENST00000394536,NM_002587.5,c.1100del,HIGH,,,,-1;PCDH1,3_prime_UTR_variant,,ENST00000515351,,c.*219del,MODIFIER,,,,-1;PCDH1,intron_variant,,ENST00000503492,,c.903+3338del,MODIFIER,,,,-1;PCDH1,downstream_gene_variant,,ENST00000514773,,,MODIFIER,,,,-1;PCDH1,non_coding_transcript_exon_variant,,ENST00000357517,NM_001278613.2,n.1133del,MODIFIER,,,,-1;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,NM_001278615.1,n.328del,MODIFIER,,,,-1;PCDH1,3_prime_UTR_variant,,ENST00000505937,,c.*276del,MODIFIER,,,,-1","-","ENSG00000156453","ENST00000394536","Transcript","frameshift_variant","frameshift_variant","1248/3827","1100/3183","367/1060","K/X","aAg/ag",null,null,-1,"PCDH1","HGNC","HGNC:8655","protein_coding",null,"CCDS43375.1","ENSP00000378043","Q08174.170",null,"UPI0000074735","Q08174-1","NM_002587.5",null,"A2",{"$nulls":3},"2024-03-03",null,"Gene3D:2.60.40.60;PDB-ENSP_mappings:6bx7.A;PDB-ENSP_mappings:6mga.A;PDB-ENSP_mappings:6pim.A;PDB-ENSP_mappings:6vfp.A;Pfam:PF00028;PROSITE_profiles:PS50268;PANTHER:PTHR24028;PANTHER:PTHR24028:SF247;SMART:SM00112;Superfamily:SSF49313;CDD:cd11304",{"$nulls":41},"HIGH",null,"deletion",1,{"$nulls":3},"GCACTCTTGGGG","c61321fa-1871-42fe-8ab6-1bab368f10ee","3b8e8b19-5148-4a82-918a-b45d5a3ffcd4","2a227292-c73d-45fc-ab68-cdfaf7aef9e7",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DDOST",1650,"BI","GRCh38","chr1",20653710,20653712,"+","In_Frame_Del","DEL","CCT","CCT","-","rs1557571295",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.908_910del","p.Glu303del","p.E303del","ENST00000415136","2024-08-11",39,29,10,34,null,null,"DDOST,inframe_deletion,p.E303del,ENST00000415136,,c.908_910del,MODERATE,YES,,,-1;DDOST,inframe_deletion,p.E286del,ENST00000602624,NM_005216.5,c.857_859del,MODERATE,,,,-1;PINK1,downstream_gene_variant,,ENST00000321556,NM_032409.3,,MODIFIER,YES,,,1;DDOST,downstream_gene_variant,,ENST00000464364,,,MODIFIER,,,,-1;PINK1,downstream_gene_variant,,ENST00000400490,,,MODIFIER,,,,1;DDOST,upstream_gene_variant,,ENST00000475210,,,MODIFIER,,,,-1;PINK1,downstream_gene_variant,,ENST00000492302,,,MODIFIER,,,,1;PINK1-AS,upstream_gene_variant,,ENST00000451424,,,MODIFIER,YES,,,-1","-","ENSG00000244038","ENST00000415136","Transcript","inframe_deletion","inframe_deletion","1051-1053/2126","908-910/1371","303-304/456","EG/G","gAGGgt/ggt","rs1557571295",null,-1,"DDOST","HGNC","HGNC:2728","protein_coding","YES","CCDS212.1","ENSP00000399457","P39656.196",null,"UPI000013C9E0","P39656-1",null,null,"A2",{"$nulls":3},"2024-08-11",null,"PDB-ENSP_mappings:6s7o.G;PDB-ENSP_mappings:6s7t.G;Pfam:PF03345;PANTHER:PTHR10830;PANTHER:PTHR10830:SF0",{"$nulls":8},"3.981e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS",{"$nulls":22},"MODERATE",1,"deletion",1,null,null,1,"GGACACCCTCCTCC","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["SOS1",6654,"BI","GRCh38","chr2",38986047,38986047,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.3779C>G","p.Pro1260Arg","p.P1260R","ENST00000402219","23/23",69,49,20,66,null,null,"SOS1,missense_variant,p.P1260R,ENST00000402219,NM_001382394.1&NM_005633.4,c.3779C>G,MODERATE,YES,deleterious_low_confidence(0.04),benign(0.218),-1;SOS1,missense_variant,p.P1245R,ENST00000395038,NM_001382395.1,c.3734C>G,MODERATE,,deleterious_low_confidence(0.02),benign(0.39),-1;SOS1,non_coding_transcript_exon_variant,,ENST00000469581,,n.522C>G,MODIFIER,,,,-1","C","ENSG00000115904","ENST00000402219","Transcript","missense_variant","missense_variant","4408/8906","3779/4002","1260/1333","P/R","cCt/cGt","COSV101216786",null,-1,"SOS1","HGNC","HGNC:11187","protein_coding","YES","CCDS1802.1","ENSP00000384675","Q07889.223",null,"UPI0000135CF0","Q07889-1","NM_001382394.1;NM_005633.4","NM_005633.4","P4",null,"deleterious_low_confidence(0.04)","benign(0.218)","23/23",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR23113;PANTHER:PTHR23113:SF168",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GAGGAGGAGGT","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["COPG1",22820,"BI","GRCh38","chr3",129257476,129257476,"+","Missense_Mutation","SNP","G","G","A","rs1448297813",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.586G>A","p.Ala196Thr","p.A196T","ENST00000314797","2024-09-24",163,149,14,173,null,null,"COPG1,missense_variant,p.A196T,ENST00000314797,NM_016128.4,c.586G>A,MODERATE,YES,deleterious(0),probably_damaging(0.989),1;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,,n.845G>A,MODIFIER,,,,1;COPG1,downstream_gene_variant,,ENST00000504350,,,MODIFIER,,,,1;COPG1,upstream_gene_variant,,ENST00000504547,,,MODIFIER,,,,1;COPG1,downstream_gene_variant,,ENST00000509208,,,MODIFIER,,,,1;COPG1,downstream_gene_variant,,ENST00000513965,,,MODIFIER,,,,1","A","ENSG00000181789","ENST00000314797","Transcript","missense_variant","missense_variant","690/3078","586/2625","196/874","A/T","Gca/Aca","rs1448297813;COSV59115075",null,1,"COPG1","HGNC","HGNC:2236","protein_coding","YES","CCDS33851.1","ENSP00000325002","Q9Y678.171",null,"UPI000000095F",null,"NM_016128.4","NM_016128.4","P1",null,"deleterious(0)","probably_damaging(0.989)","2024-09-24",null,"PANTHER:PTHR10261;PANTHER:PTHR10261:SF3;Pfam:PF01602;Gene3D:1.25.10.10;PIRSF:PIRSF037093;Superfamily:SSF48371",{"$nulls":8},"3.978e-06",0,0,"9.923e-05",0,0,0,0,0,"9.923e-05","gnomAD_ASJ",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"ACCACGCACTA","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,"COSM4674182","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MOG",4340,"BI","GRCh38","chr6",29657241,29657241,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.32G>A","p.Ser11Asn","p.S11N","ENST00000376917","2024-01-08",24,18,5,26,null,null,"MOG,missense_variant,p.S11N,ENST00000376894,NM_001363610.2,c.32G>A,MODERATE,YES,tolerated_low_confidence(0.1),benign(0.108),1;MOG,missense_variant,p.S11N,ENST00000376917,NM_206809.4,c.32G>A,MODERATE,,tolerated(0.07),benign(0.025),1;MOG,missense_variant,p.S11N,ENST00000431798,NM_206812.4,c.32G>A,MODERATE,,tolerated(0.11),benign(0.056),1;MOG,missense_variant,p.S11N,ENST00000376888,NM_206814.6,c.32G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.221),1;MOG,missense_variant,p.S11N,ENST00000376898,NM_002433.5,c.32G>A,MODERATE,,deleterious(0.04),benign(0.121),1;MOG,missense_variant,p.S11N,ENST00000494692,NM_206811.4,c.32G>A,MODERATE,,tolerated(0.58),benign(0.221),1;MOG,missense_variant,p.S11N,ENST00000396701,NM_206810.4,c.32G>A,MODERATE,,tolerated(0.29),benign(0.172),1;MOG,missense_variant,p.S11N,ENST00000376891,NM_001008229.3,c.32G>A,MODERATE,,tolerated(0.24),benign(0.172),1;MOG,missense_variant,p.S11N,ENST00000396704,NM_001008228.3,c.32G>A,MODERATE,,tolerated(0.32),benign(0.158),1;MOG,missense_variant,p.S11N,ENST00000416766,,c.32G>A,MODERATE,,deleterious(0.02),benign(0.057),1;MOG,missense_variant,p.S11N,ENST00000490427,NM_001170418.2,c.32G>A,MODERATE,,deleterious_low_confidence(0.03),possibly_damaging(0.447),1;MOG,missense_variant,p.S11N,ENST00000483013,,c.32G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.295),1;MOG,non_coding_transcript_exon_variant,,ENST00000469603,,n.26G>A,MODIFIER,,,,1;MOG,non_coding_transcript_exon_variant,,ENST00000476244,,n.26G>A,MODIFIER,,,,1;MOG,missense_variant,p.S11N,ENST00000376903,,c.32G>A,MODERATE,,,benign(0.221),1;MOG,non_coding_transcript_exon_variant,,ENST00000469353,,n.112G>A,MODIFIER,,,,1;MOG,upstream_gene_variant,,ENST00000376889,,,MODIFIER,,,,1;MOG,upstream_gene_variant,,ENST00000485211,,,MODIFIER,,,,1","A","ENSG00000204655","ENST00000376917","Transcript","missense_variant","missense_variant","150/2042","32/744","11/247","S/N","aGc/aAc","COSV100972994",null,1,"MOG","HGNC","HGNC:7197","protein_coding",null,"CCDS34370.1","ENSP00000366115","Q16653.175",null,"UPI000020E4D9","Q16653-1","NM_206809.4","NM_206809.4","P2",null,"tolerated(0.07)","benign(0.025)","2024-01-08",null,"Low_complexity_(Seg):seg;Cleavage_site_(Signalp):SignalP-noTM;PANTHER:PTHR24100;PANTHER:PTHR24100:SF71;PIRSF:PIRSF016522",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GCCCAGCTGCC","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CAVIN4",347273,"BI","GRCh38","chr9",100586095,100586095,"+","Missense_Mutation","SNP","A","A","G","rs1336467530",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.739A>G","p.Arg247Gly","p.R247G","ENST00000307584","2024-02-02",133,81,52,137,null,null,"CAVIN4,missense_variant,p.R247G,ENST00000307584,NM_001018116.2,c.739A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;RN7SKP87,upstream_gene_variant,,ENST00000364096,,,MODIFIER,YES,,,-1","G","ENSG00000170681","ENST00000307584","Transcript","missense_variant","missense_variant","804/3098","739/1095","247/364","R/G","Agg/Ggg","rs1336467530;COSV100293197",null,1,"CAVIN4","HGNC","HGNC:33742","protein_coding","YES","CCDS35083.1","ENSP00000418668","Q5BKX8.117",null,"UPI000004CC0D",null,"NM_001018116.2","NM_001018116.2","P1",null,"deleterious(0.01)","probably_damaging(0.996)","2024-02-02",null,"MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR15240;PANTHER:PTHR15240:SF4;Pfam:PF15237",{"$nulls":8},"4.008e-06",0,"2.922e-05",0,0,0,0,0,0,"2.922e-05","gnomAD_AMR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GGGAGAGGCTG","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ABL1",25,"BI","GRCh38","chr9",130878484,130878484,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.1340A>C","p.Gln447Pro","p.Q447P","ENST00000318560","2024-08-11",225,155,70,268,null,null,"ABL1,missense_variant,p.Q447P,ENST00000318560,NM_005157.6,c.1340A>C,MODERATE,,deleterious(0),possibly_damaging(0.677),1;ABL1,missense_variant,p.Q466P,ENST00000372348,NM_007313.2,c.1397A>C,MODERATE,YES,deleterious(0),possibly_damaging(0.677),1","C","ENSG00000097007","ENST00000318560","Transcript","missense_variant","missense_variant","1533/5578","1340/3393","447/1130","Q/P","cAg/cCg","COSV100583757",null,1,"ABL1","HGNC","HGNC:76","protein_coding",null,"CCDS35166.1","ENSP00000323315","P00519.264","A0A024R8E2.48","UPI000013D6D4","P00519-1","NM_005157.6","NM_005157.6",null,null,"deleterious(0)","possibly_damaging(0.677)","2024-08-11",null,"Gene3D:1.10.510.10;PDB-ENSP_mappings:1opl.A;PDB-ENSP_mappings:1opl.B;PDB-ENSP_mappings:2e2b.A;PDB-ENSP_mappings:2e2b.B;PDB-ENSP_mappings:2f4j.A;PDB-ENSP_mappings:2fo0.A;PDB-ENSP_mappings:2g1t.A;PDB-ENSP_mappings:2g1t.B;PDB-ENSP_mappings:2g1t.C;PDB-ENSP_mappings:2g1t.D;PDB-ENSP_mappings:2g2f.A;PDB-ENSP_mappings:2g2f.B;PDB-ENSP_mappings:2g2h.A;PDB-ENSP_mappings:2g2h.B;PDB-ENSP_mappings:2g2i.A;PDB-ENSP_mappings:2g2i.B;PDB-ENSP_mappings:2gqg.A;PDB-ENSP_mappings:2gqg.B;PDB-ENSP_mappings:2hiw.A;PDB-ENSP_mappings:2hiw.B;PDB-ENSP_mappings:2hyy.A;PDB-ENSP_mappings:2hyy.B;PDB-ENSP_mappings:2hyy.C;PDB-ENSP_mappings:2hyy.D;PDB-ENSP_mappings:2hz0.A;PDB-ENSP_mappings:2hz0.B;PDB-ENSP_mappings:2hz4.A;PDB-ENSP_mappings:2hz4.B;PDB-ENSP_mappings:2hz4.C;PDB-ENSP_mappings:2hzi.A;PDB-ENSP_mappings:2hzi.B;PDB-ENSP_mappings:2v7a.A;PDB-ENSP_mappings:2v7a.B;PDB-ENSP_mappings:3cs9.A;PDB-ENSP_mappings:3cs9.B;PDB-ENSP_mappings:3cs9.C;PDB-ENSP_mappings:3cs9.D;PDB-ENSP_mappings:3pyy.A;PDB-ENSP_mappings:3pyy.B;PDB-ENSP_mappings:3qri.A;PDB-ENSP_mappings:3qri.B;PDB-ENSP_mappings:3qrj.A;PDB-ENSP_mappings:3qrj.B;PDB-ENSP_mappings:3qrk.A;PDB-ENSP_mappings:3ue4.A;PDB-ENSP_mappings:3ue4.B;PDB-ENSP_mappings:4twp.A;PDB-ENSP_mappings:4twp.B;PDB-ENSP_mappings:4wa9.A;PDB-ENSP_mappings:4wa9.B;PDB-ENSP_mappings:4xey.A;PDB-ENSP_mappings:4xey.B;PDB-ENSP_mappings:4yc8.A;PDB-ENSP_mappings:4yc8.B;PDB-ENSP_mappings:4zog.A;PDB-ENSP_mappings:4zog.B;PDB-ENSP_mappings:5hu9.A;PDB-ENSP_mappings:5mo4.A;PDB-ENSP_mappings:6bl8.A;PDB-ENSP_mappings:6bl8.B;PDB-ENSP_mappings:6npe.A;PDB-ENSP_mappings:6npe.B;PDB-ENSP_mappings:6npu.A;PDB-ENSP_mappings:6npu.B;PDB-ENSP_mappings:6npv.A;PDB-ENSP_mappings:6npv.B;Pfam:PF07714;PROSITE_profiles:PS50011;PANTHER:PTHR24418;PANTHER:PTHR24418:SF88;SMART:SM00219;Superfamily:SSF56112;CDD:cd05052",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,1,"GTCCCAGGTGT","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["YBX3",8531,"BI","GRCh38","chr12",10702120,10702120,"+","Missense_Mutation","SNP","C","C","T","rs201062345",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.893G>A","p.Arg298His","p.R298H","ENST00000228251","2024-08-10",51,44,7,47,null,null,"YBX3,missense_variant,p.R298H,ENST00000228251,NM_003651.5,c.893G>A,MODERATE,YES,tolerated(0.07),benign(0.014),-1;YBX3,missense_variant,p.R229H,ENST00000279550,NM_001145426.2,c.686G>A,MODERATE,,tolerated(0.22),benign(0.003),-1;YBX3,non_coding_transcript_exon_variant,,ENST00000546164,,n.317G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000541351,,n.478G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000366286,,n.399G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000540975,,n.79G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000544504,,n.473G>A,MODIFIER,,,,-1;YBX3,downstream_gene_variant,,ENST00000539204,,,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000540447,,n.5705G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000542002,,n.691G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000536823,,n.403G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000542641,,n.429G>A,MODIFIER,,,,-1;YBX3,non_coding_transcript_exon_variant,,ENST00000366290,,n.252G>A,MODIFIER,,,,-1","T","ENSG00000060138","ENST00000228251","Transcript","missense_variant","missense_variant","1105/1931","893/1119","298/372","R/H","cGc/cAc","rs201062345",null,-1,"YBX3","HGNC","HGNC:2428","protein_coding","YES","CCDS8630.1","ENSP00000228251","P16989.209","A0A024RAQ1.38","UPI000013DBD6","P16989-1","NM_003651.5","NM_003651.5","P4",null,"tolerated(0.07)","benign(0.014)","2024-08-10",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;PANTHER:PTHR11544;PANTHER:PTHR11544:SF14",{"$nulls":6},0.000227,0,"6.383e-05","6.155e-05",0.0001743,0,"5.444e-05",0,"3.53e-05",0.0001635,"9.824e-05",0.000227,"AA","7.43907003197819e-05",1.21637000120244E-4,0,2.65357986791059E-4,0,0,0,0,"1.5435000022989698e-05",0.000494559993967413,0,2.65357986791059E-4,"amr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"GTGGGCGAGGA","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2"]
["ZFHX3",463,"BI","GRCh38","chr16",72957858,72957859,"+","Frame_Shift_Ins","INS","-","-","C","rs760959844",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.2287dup","p.Glu763GlyfsTer26","p.E763Gfs*26","ENST00000268489","2024-02-10",54,38,15,70,null,null,"ZFHX3,frameshift_variant,p.E763Gfs*26,ENST00000641206,,c.2287dup,HIGH,YES,,,-1;ZFHX3,frameshift_variant,p.E763Gfs*26,ENST00000268489,NM_006885.4,c.2287dup,HIGH,,,,-1;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.2,c.-23-6894dup,MODIFIER,,,,-1","C","ENSG00000140836","ENST00000268489","Transcript","frameshift_variant","frameshift_variant","2713-2714/15817","2287-2288/11112","763/3703","E/GX","gag/gGag","rs760959844",null,-1,"ZFHX3","HGNC","HGNC:777","protein_coding",null,"CCDS10908.1","ENSP00000268489","Q15911.195",null,"UPI00001AE937","Q15911-1","NM_006885.4","NM_006885.4","P1",{"$nulls":3},"2024-02-10",null,"PANTHER:PTHR45891;PANTHER:PTHR45891:SF4",{"$nulls":8},"1.211e-05",0,0,0,0,0,"2.713e-05",0,0,"2.713e-05","gnomAD_NFE",{"$nulls":22},"HIGH",null,"insertion",1,null,null,1,"CCTGCTCCCCC","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,"COSM5116375","N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["TUBB6",84617,"BI","GRCh38","chr18",12325750,12325750,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.961A>G","p.Met321Val","p.M321V","ENST00000317702","2024-04-04",111,82,29,128,null,null,"TUBB6,missense_variant,p.M321V,ENST00000317702,NM_001303524.1&NM_001303530.2&NM_001303528.2&NM_032525.3,c.961A>G,MODERATE,YES,tolerated_low_confidence(0.27),benign(0.114),1;TUBB6,missense_variant,p.M284V,ENST00000590103,NM_001303529.2&NM_001303526.2,c.850A>G,MODERATE,,tolerated_low_confidence(0.23),benign(0.001),1;TUBB6,3_prime_UTR_variant,,ENST00000591208,,c.*468A>G,MODIFIER,,,,1;TUBB6,intron_variant,,ENST00000586691,,c.87+14697A>G,MODIFIER,,,,1;TUBB6,intron_variant,,ENST00000590967,,c.278-11363A>G,MODIFIER,,,,1;TUBB6,intron_variant,,ENST00000591909,NM_001303525.1,c.278-3396A>G,MODIFIER,,,,1;AFG3L2,downstream_gene_variant,,ENST00000269143,NM_006796.3,,MODIFIER,YES,,,-1;TUBB6,downstream_gene_variant,,ENST00000586653,,,MODIFIER,,,,1;TUBB6,downstream_gene_variant,,ENST00000590693,,,MODIFIER,,,,1;TUBB6,downstream_gene_variant,,ENST00000591463,NM_001303527.2,,MODIFIER,,,,1;TUBB6,downstream_gene_variant,,ENST00000592683,,,MODIFIER,,,,1;TUBB6,3_prime_UTR_variant,,ENST00000586810,,c.*1002A>G,MODIFIER,,,,1;TUBB6,non_coding_transcript_exon_variant,,ENST00000417736,,n.1350A>G,MODIFIER,,,,1;TUBB6,downstream_gene_variant,,ENST00000590388,,,MODIFIER,,,,1","G","ENSG00000176014","ENST00000317702","Transcript","missense_variant","missense_variant","1013/1879","961/1341","321/446","M/V","Atg/Gtg","COSV99301727",null,1,"TUBB6","HGNC","HGNC:20776","protein_coding","YES","CCDS11858.1","ENSP00000318697","Q9BUF5.174",null,"UPI0000072BFF",null,"NM_001303524.1;NM_001303530.2;NM_001303528.2;NM_032525.3","NM_032525.3","P1",null,"tolerated_low_confidence(0.27)","benign(0.114)","2024-04-04",null,"Gene3D:3.30.1330.20;Pfam:PF03953;Prints:PR01163;PANTHER:PTHR11588;PANTHER:PTHR11588:SF88;SMART:SM00865;Superfamily:SSF55307;CDD:cd02187",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGCCCATGTCC","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KRTAP10-6",386674,"BI","GRCh38","chr21",44592324,44592324,"+","Missense_Mutation","SNP","C","C","T","rs371498624",null,"TCGA-VQ-A91D","TCGA-VQ-A91D-10A-01D-A413-08",{"$nulls":8},"Somatic",{"$nulls":6},"5129af47-526c-47b0-8d5f-e5d183c8eb95","22830d89-9494-45b8-a25f-3d1f9b1e524f","c.161G>A","p.Ser54Asn","p.S54N","ENST00000400368","2024-01-01",20,13,6,33,null,null,"KRTAP10-6,missense_variant,p.S54N,ENST00000400368,NM_198688.3,c.161G>A,MODERATE,YES,deleterious(0),benign(0.025),-1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.3&NM_001272037.2,c.83-24319G>A,MODIFIER,YES,,,-1;KRTAP10-4,intron_variant,,ENST00000622352,,c.716-8757C>T,MODIFIER,,,,1;TSPEAR,intron_variant,,ENST00000642437,,c.*28-24319G>A,MODIFIER,,,,-1","T","ENSG00000188155","ENST00000400368","Transcript","missense_variant","missense_variant","182/1238","161/1098","54/365","S/N","aGc/aAc","rs371498624",null,-1,"KRTAP10-6","HGNC","HGNC:20523","protein_coding","YES","CCDS42959.1","ENSP00000383219","P60371.124",null,"UPI000021C43D",null,"NM_198688.3","NM_198688.3","P1",null,"deleterious(0)","benign(0.025)","2024-01-01",null,"PANTHER:PTHR23262;PANTHER:PTHR23262:SF170;Low_complexity_(Seg):seg",{"$nulls":8},"4.283e-06",0,0,0,0,0,"9.356e-06",0,0,"9.356e-06","gnomAD_NFE",{"$nulls":22},"MODERATE",null,"SNV",{"$nulls":4},"CCAGGCTCAGG","cab00f37-c190-4b20-b5e3-37e61efee855","bdc7ba5d-0882-4bb4-8164-8bc404acdde7","33a9f48e-75e5-4ec5-8e4a-7c6d91a98656",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["UBQLNL",143630,"BI","GRCh38","chr11",5516422,5516422,"+","Missense_Mutation","SNP","C","C","T","rs376018623",null,"TCGA-RD-A8N5","TCGA-RD-A8N5-10A-01D-A362-08",{"$nulls":8},"Somatic",{"$nulls":6},"9f7dfbea-7b16-4b34-837a-498f840f9ad3","10726033-4d39-4c9c-b962-cdf946346a3c","c.20G>A","p.Arg7Gln","p.R7Q","ENST00000380184","2024-01-01",60,54,6,62,null,null,"UBQLNL,missense_variant,p.R7Q,ENST00000380184,NM_145053.5,c.20G>A,MODERATE,YES,tolerated(0.25),benign(0.01),-1;UBQLNL,intron_variant,,ENST00000673910,,c.-1-10G>A,MODIFIER,,,,-1;AC104389.5,intron_variant,,ENST00000380259,,c.*739+74403G>A,MODIFIER,YES,,,-1;OLFM5P,downstream_gene_variant,,ENST00000411807,,,MODIFIER,YES,,,-1","T","ENSG00000175518","ENST00000380184","Transcript","missense_variant","missense_variant","278/2307","20/1428","7/475","R/Q","cGa/cAa","rs376018623",null,-1,"UBQLNL","HGNC","HGNC:28294","protein_coding","YES","CCDS31385.1","ENSP00000369531","Q8IYU4.120",null,"UPI000066D8EC","Q8IYU4-1","NM_145053.5","NM_145053.5","P4",null,"tolerated(0.25)","benign(0.01)","2024-01-01",null,"Superfamily:SSF54236;PANTHER:PTHR10677;PANTHER:PTHR10677:SF9",{"$nulls":6},0.0002272,0,"2.802e-05","6.327e-05",0,0,0,0,"3.545e-05",0,"6.549e-05",0.0002272,"AA","5.410299854702316e-05",1.46007005241699E-4,0,0,0,0,0,0,"1.5434499800903723e-05",0.000495049986056983,0,1.46007005241699E-4,"afr",{"$nulls":9},"MODERATE",null,"SNV",{"$nulls":4},"ATGTTCGAGAG","2d35dfe6-732d-400f-a212-6e83cd8c5770","d40dbcf3-f525-4ddd-9364-6da4d153eaac","6e2ecc9d-dc68-4922-a36e-e8bbaf9eafb3",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["AC093246.1",0,"BI","GRCh38","chr5",171436104,171436104,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-HU-A4GF","TCGA-HU-A4GF-10A-01D-A24F-08",{"$nulls":8},"Somatic",{"$nulls":6},"b9641542-98dd-4827-b747-e66bdb1e4213","94ba2829-6f3a-49b5-99c0-c25b4d40b39a","c.265C>G","p.Arg89Gly","p.R89G","ENST00000675071","2024-03-03",31,25,6,33,null,null,"AC093246.1,missense_variant,p.R89G,ENST00000675071,,c.265C>G,MODERATE,YES,,unknown(0),1;FGF18,synonymous_variant,p.A27=,ENST00000274625,NM_003862.3,c.81C>G,LOW,YES,,,1","G","ENSG00000288639","ENST00000675071","Transcript","missense_variant","missense_variant","265/333","265/333","89/110","R/G","Cga/Gga","COSV51130108",null,1,"AC093246.1","Clone_based_ensembl_gene",null,"protein_coding","YES",null,"ENSP00000502466",null,null,"UPI00024CE849",{"$nulls":3},"P1",null,null,"unknown(0)","2024-03-03",null,"MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"GTTGCCGAGGA","8921121a-6c5a-4c9d-9506-7cf717f7f893","7accab24-a536-4089-8fbf-7a47bb4123e2","df89b0be-fbe1-4ca7-bea7-ae057c3f6461",null,"COSM3853697","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CUBN",8029,"BI","GRCh38","chr10",16915887,16915887,"+","Missense_Mutation","SNP","A","A","G",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.7144T>C","p.Phe2382Leu","p.F2382L","ENST00000377833","46/67",138,82,56,114,null,null,"CUBN,missense_variant,p.F2382L,ENST00000377833,NM_001081.4,c.7144T>C,MODERATE,YES,tolerated(0.68),benign(0.058),-1","G","ENSG00000107611","ENST00000377833","Transcript","missense_variant","missense_variant","7190/11927","7144/10872","2382/3623","F/L","Ttt/Ctt","COSV64708805",null,-1,"CUBN","HGNC","HGNC:2548","protein_coding","YES","CCDS7113.1","ENSP00000367064","O60494.184",null,"UPI00001AE8F4",null,"NM_001081.4","NM_001081.4","P1",null,"tolerated(0.68)","benign(0.058)","46/67",null,"Gene3D:2.60.120.290;Pfam:PF00431;PROSITE_profiles:PS01180;PANTHER:PTHR45645;PANTHER:PTHR45645:SF31;SMART:SM00042;Superfamily:SSF49854;CDD:cd00041",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GTTAAAGTCTT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4013082","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CUBN",8029,"BI","GRCh38","chr10",17123610,17123611,"+","Frame_Shift_Ins","INS","-","-","A","rs755846379",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.466dup","p.Cys156LeufsTer15","p.C156Lfs*15","ENST00000377833","5/67",41,27,14,36,null,null,"CUBN,frameshift_variant,p.C156Lfs*15,ENST00000377833,NM_001081.4,c.466dup,HIGH,YES,,,-1;CUBN,frameshift_variant,p.C43Lfs*15,ENST00000433666,,c.127dup,HIGH,,,,-1;CUBN,non_coding_transcript_exon_variant,,ENST00000377823,,n.505dup,MODIFIER,,,,-1","A","ENSG00000107611","ENST00000377833","Transcript","frameshift_variant","frameshift_variant","512-513/11927","466-467/10872","156/3623","C/LX","tgt/tTgt","rs755846379",null,-1,"CUBN","HGNC","HGNC:2548","protein_coding","YES","CCDS7113.1","ENSP00000367064","O60494.184",null,"UPI00001AE8F4",null,"NM_001081.4","NM_001081.4","P1",{"$nulls":3},"5/67",null,"Gene3D:2.10.25.10;Pfam:PF00008;PROSITE_patterns:PS00010;PROSITE_patterns:PS00022;PROSITE_profiles:PS50026;PANTHER:PTHR45645;PANTHER:PTHR45645:SF31;SMART:SM00179;SMART:SM00181;Superfamily:SSF57184;Superfamily:SSF57196;CDD:cd00054",{"$nulls":8},"3.993e-06",0,"2.898e-05",0,0,0,0,0,0,"2.898e-05","gnomAD_AMR",{"$nulls":22},"HIGH",1,"insertion",1,null,null,1,"AGATACAAAAA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,null,"N","Unknown",{"$nulls":3},"mutect2;varscan2"]
["MASTL",84930,"BI","GRCh38","chr10",27170604,27170604,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1645T>A","p.Leu549Ile","p.L549I","ENST00000375940","2024-08-12",122,65,57,94,null,null,"MASTL,missense_variant,p.L549I,ENST00000375940,NM_001372029.1&NM_001372030.1&NM_001320757.2&NM_001172303.3,c.1645T>A,MODERATE,YES,tolerated(0.09),benign(0.086),1;MASTL,missense_variant,p.L549I,ENST00000375946,NM_001320756.2&NM_032844.5,c.1645T>A,MODERATE,,tolerated(0.09),benign(0.294),1;MASTL,missense_variant,p.L549I,ENST00000342386,NM_001172304.3,c.1645T>A,MODERATE,,tolerated(0.09),benign(0.165),1;MASTL,missense_variant,p.L221I,ENST00000477034,,c.661T>A,MODERATE,,tolerated(0.08),possibly_damaging(0.68),1;ACBD5,intron_variant,,ENST00000677440,,c.1272-334A>T,MODIFIER,,,,-1","A","ENSG00000120539","ENST00000375940","Transcript","missense_variant","missense_variant","1720/4132","1645/2640","549/879","L/I","Tta/Ata","COSV60909604",null,1,"MASTL","HGNC","HGNC:19042","protein_coding","YES","CCDS53502.1","ENSP00000365107","Q96GX5.171",null,"UPI000004060D","Q96GX5-1","NM_001372029.1;NM_001372030.1;NM_001320757.2;NM_001172303.3","NM_001172303.3","P4",null,"tolerated(0.09)","benign(0.086)","2024-08-12",null,"Superfamily:SSF56112;SMART:SM00220;PANTHER:PTHR24356:SF1;PANTHER:PTHR24356;PROSITE_profiles:PS50011",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"ACTACTTAAGT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4013562","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["JCAD",57608,"BI","GRCh38","chr10",30027098,30027098,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.3050C>G","p.Ala1017Gly","p.A1017G","ENST00000375377","2024-03-04",200,126,74,178,null,null,"JCAD,missense_variant,p.A1017G,ENST00000375377,NM_001350021.2&NM_001350022.2&NM_020848.4&NM_001350001.2,c.3050C>G,MODERATE,YES,tolerated(0.34),benign(0.009),-1","C","ENSG00000165757","ENST00000375377","Transcript","missense_variant","missense_variant","3214/9324","3050/4080","1017/1359","A/G","gCg/gGg","COSV64758158;COSV64759952",null,-1,"JCAD","HGNC","HGNC:29283","protein_coding","YES","CCDS41500.1","ENSP00000364526","Q9P266.119",null,"UPI00001D8117",null,"NM_001350021.2;NM_001350022.2;NM_020848.4;NM_001350001.2","NM_020848.4","P1",null,"tolerated(0.34)","benign(0.009)","2024-03-04",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR34757;Pfam:PF15351",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"1;1",null,"GGACCGCTTCA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4013693","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF33A",7581,"BI","GRCh38","chr10",38056219,38056219,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2092G>A","p.Gly698Arg","p.G698R","ENST00000458705","2024-05-05",163,108,55,120,null,null,"ZNF33A,missense_variant,p.G717R,ENST00000307441,NM_001278173.1,c.2149G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.657),1;ZNF33A,missense_variant,p.G587R,ENST00000374618,NM_001278178.1&NM_001324177.2&NM_001278175.2&NM_001278171.2&NM_001278174.2&NM_001278176.2&NM_001324176.2&NM_001278179.2&NM_001324175.2,c.1759G>A,MODERATE,,deleterious(0.03),probably_damaging(0.938),1;ZNF33A,missense_variant,p.G699R,ENST00000432900,NM_006954.2,c.2095G>A,MODERATE,,deleterious(0),probably_damaging(0.978),1;ZNF33A,missense_variant,p.G698R,ENST00000458705,NM_006974.3,c.2092G>A,MODERATE,,deleterious(0),probably_damaging(0.938),1;ZNF33A,missense_variant,p.G705R,ENST00000628825,NM_001278177.2&NM_001324178.2&NM_001278170.2,c.2113G>A,MODERATE,,deleterious(0),probably_damaging(0.955),1;ZNF33A,intron_variant,,ENST00000469037,,c.387+1708G>A,MODIFIER,,,,1;ZNF33A,downstream_gene_variant,,ENST00000478556,,,MODIFIER,,,,1","A","ENSG00000189180","ENST00000458705","Transcript","missense_variant","missense_variant","2250/6084","2092/2433","698/810","G/R","Ggg/Agg","COSV56723378",null,1,"ZNF33A","HGNC","HGNC:13096","protein_coding",null,"CCDS31182.1","ENSP00000387713","Q06730.188",null,"UPI000000D888","Q06730-1","NM_006974.3",null,"A2",null,"deleterious(0)","probably_damaging(0.938)","2024-05-05",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24376;PANTHER:PTHR24376:SF87;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"AATGTGGGAAA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4014071;COSM4014072","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AIFM2",84883,"BI","GRCh38","chr10",70116738,70116738,"+","Missense_Mutation","SNP","T","T","C","rs770588744",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.653A>G","p.Asn218Ser","p.N218S","ENST00000307864","2024-07-09",177,96,81,141,null,null,"AIFM2,missense_variant,p.N218S,ENST00000613322,NM_001198696.1,c.653A>G,MODERATE,YES,tolerated(0.05),benign(0.076),-1;AIFM2,missense_variant,p.N218S,ENST00000307864,NM_032797.6,c.653A>G,MODERATE,,tolerated(0.05),benign(0.076),-1;AIFM2,missense_variant,p.N218S,ENST00000373248,,c.653A>G,MODERATE,,tolerated(0.05),benign(0.076),-1;MACROH2A2,downstream_gene_variant,,ENST00000373255,NM_018649.3,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000676699,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000676896,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000677881,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000678191,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000679349,,,MODIFIER,YES,,,1;AIFM2,non_coding_transcript_exon_variant,,ENST00000482166,,n.490A>G,MODIFIER,,,,-1;MACROH2A2,downstream_gene_variant,,ENST00000676683,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000677268,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000678214,,,MODIFIER,,,,1;MACROH2A2,downstream_gene_variant,,ENST00000678682,,,MODIFIER,,,,1","C","ENSG00000042286","ENST00000307864","Transcript","missense_variant","missense_variant","758/3134","653/1122","218/373","N/S","aAt/aGt","rs770588744;COSV57158713",null,-1,"AIFM2","HGNC","HGNC:21411","protein_coding",null,"CCDS7297.1","ENSP00000312370","Q9BRQ8.155",null,"UPI000003F07F","Q9BRQ8-1","NM_032797.6","NM_032797.6","P1",null,"tolerated(0.05)","benign(0.076)","2024-07-09",null,"Gene3D:3.50.50.100;Pfam:PF07992;PANTHER:PTHR43735;PANTHER:PTHR43735:SF3;Superfamily:SSF51905",{"$nulls":8},"1.988e-05",0,0,0,0,"4.62e-05","3.516e-05",0,0,"4.62e-05","gnomAD_FIN","1.3519499589165207e-05","2.4320199372596107e-05",0,0,0,0,0,0,"1.5432100553880446e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"ACTCATTGAGA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4015465","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCNMA1",3778,"BI","GRCh38","chr10",76914986,76914986,"+","Missense_Mutation","SNP","C","C","T","rs369646039",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2966G>A","p.Arg989His","p.R989H","ENST00000286628","24/28",312,183,128,256,null,null,"KCNMA1,missense_variant,p.R934H,ENST00000639913,,c.2801G>A,MODERATE,,tolerated(0.09),benign(0.007),-1;KCNMA1,missense_variant,p.R934H,ENST00000638991,NM_001322829.2,c.2801G>A,MODERATE,,deleterious(0.05),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000639601,,c.2792G>A,MODERATE,,tolerated(0.08),benign(0.007),-1;KCNMA1,missense_variant,p.R796H,ENST00000604624,,c.2387G>A,MODERATE,,tolerated(0.11),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000639486,NM_001322832.2,c.2792G>A,MODERATE,,deleterious(0.05),benign(0.007),-1;KCNMA1,missense_variant,p.R869H,ENST00000639205,,c.2606G>A,MODERATE,,tolerated(0.26),probably_damaging(0.984),-1;KCNMA1,missense_variant,p.R989H,ENST00000286628,NM_001161352.2,c.2966G>A,MODERATE,,tolerated(0.05),benign(0.321),-1;KCNMA1,missense_variant,p.R931H,ENST00000286627,NM_002247.4,c.2792G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.52),-1;KCNMA1,missense_variant,p.R960H,ENST00000640969,,c.2879G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.855),-1;KCNMA1,missense_variant,p.R824H,ENST00000354353,,c.2471G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.707),-1;KCNMA1,missense_variant,p.R934H,ENST00000640141,NM_001322836.2,c.2801G>A,MODERATE,,tolerated(0.08),benign(0.007),-1;KCNMA1,missense_variant,p.R766H,ENST00000406533,,c.2297G>A,MODERATE,,tolerated(0.24),benign(0.321),-1;KCNMA1,missense_variant,p.R934H,ENST00000639406,NM_001271519.2,c.2801G>A,MODERATE,,tolerated(0.09),benign(0.321),-1;KCNMA1,missense_variant,p.R996H,ENST00000640523,,c.2987G>A,MODERATE,,tolerated(0.08),benign(0),-1;KCNMA1,missense_variant,p.R746H,ENST00000638754,,c.2237G>A,MODERATE,,tolerated(0.22),benign(0),-1;KCNMA1,missense_variant,p.R935H,ENST00000372443,NM_001322835.2&NM_001322837.2,c.2804G>A,MODERATE,,tolerated(0.09),benign(0.007),-1;KCNMA1,missense_variant,p.R869H,ENST00000639498,,c.2606G>A,MODERATE,,tolerated(0.17),benign(0),-1;KCNMA1,missense_variant,p.R993H,ENST00000638848,,c.2978G>A,MODERATE,,deleterious(0.05),benign(0),-1;KCNMA1,missense_variant,p.R938H,ENST00000638223,NM_001322830.2,c.2813G>A,MODERATE,,tolerated(0.09),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000639090,,c.2792G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R935H,ENST00000639489,NM_001014797.3,c.2804G>A,MODERATE,,deleterious(0.05),benign(0.007),-1;KCNMA1,missense_variant,p.R885H,ENST00000639344,,c.2654G>A,MODERATE,,tolerated(0.09),benign(0.007),-1;KCNMA1,missense_variant,p.R960H,ENST00000434208,,c.2879G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.855),-1;KCNMA1,missense_variant,p.R989H,ENST00000404771,,c.2966G>A,MODERATE,YES,tolerated(0.08),benign(0),-1;KCNMA1,missense_variant,p.R989H,ENST00000457953,,c.2966G>A,MODERATE,,tolerated(0.09),benign(0),-1;KCNMA1,missense_variant,p.R992H,ENST00000639591,,c.2975G>A,MODERATE,,tolerated(0.06),benign(0),-1;KCNMA1,missense_variant,p.R938H,ENST00000640605,,c.2813G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R935H,ENST00000638606,,c.2804G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R935H,ENST00000640182,,c.2804G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R934H,ENST00000372440,,c.2801G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R934H,ENST00000638351,,c.2801G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000638203,,c.2792G>A,MODERATE,,tolerated(0.07),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000638306,,c.2792G>A,MODERATE,,tolerated(0.05),benign(0.007),-1;KCNMA1,missense_variant,p.R909H,ENST00000372421,,c.2726G>A,MODERATE,,tolerated(0.19),benign(0.007),-1;KCNMA1,missense_variant,p.R869H,ENST00000372408,,c.2606G>A,MODERATE,,tolerated(0.17),benign(0),-1;KCNMA1,missense_variant,p.R328H,ENST00000639716,,c.983G>A,MODERATE,,tolerated(0.13),probably_damaging(0.988),-1;KCNMA1,missense_variant,p.R933H,ENST00000372437,,c.2798G>A,MODERATE,,tolerated(0.09),benign(0.003),-1;KCNMA1,missense_variant,p.R993H,ENST00000638759,,c.2978G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.52),-1;KCNMA1,missense_variant,p.R992H,ENST00000638575,,c.2975G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.707),-1;KCNMA1,missense_variant,p.R975H,ENST00000638514,,c.2924G>A,MODERATE,,tolerated(0.08),benign(0.001),-1;KCNMA1,missense_variant,p.R989H,ENST00000639544,,c.2966G>A,MODERATE,,deleterious(0.05),benign(0),-1;KCNMA1,missense_variant,p.R924H,ENST00000638895,,c.2771G>A,MODERATE,,tolerated(0.08),benign(0.007),-1;KCNMA1,missense_variant,p.R931H,ENST00000640834,,c.2792G>A,MODERATE,,tolerated(0.08),benign(0.007),-1;KCNMA1,missense_variant,p.R972H,ENST00000626620,NM_001161353.2,c.2915G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.52),-1;KCNMA1,missense_variant,p.R899H,ENST00000639823,,c.2696G>A,MODERATE,,tolerated(0.13),benign(0.007),-1;KCNMA1,missense_variant,p.R914H,ENST00000639370,,c.2741G>A,MODERATE,,tolerated(0.11),benign(0.007),-1;KCNMA1,missense_variant,p.R866H,ENST00000372403,,c.2597G>A,MODERATE,,tolerated(0.21),probably_damaging(0.988),-1;KCNMA1,missense_variant,p.R931H,ENST00000640029,,c.2792G>A,MODERATE,,tolerated(0.1),benign(0),-1;KCNMA1,missense_variant,p.R928H,ENST00000640934,,c.2783G>A,MODERATE,,tolerated(0.12),benign(0),-1;KCNMA1,missense_variant,p.R939H,ENST00000640773,,c.2816G>A,MODERATE,,tolerated(0.1),benign(0.007),-1;KCNMA1,missense_variant,p.R895H,ENST00000404857,NM_001322838.1,c.2684G>A,MODERATE,,tolerated(0.06),probably_damaging(0.984),-1;KCNMA1,missense_variant,p.R838H,ENST00000638283,,c.2513G>A,MODERATE,,tolerated(0.2),benign(0),-1;KCNMA1,missense_variant,p.R881H,ENST00000640807,NM_001271518.2,c.2642G>A,MODERATE,,tolerated(0.07),benign(0.321),-1;KCNMA1,missense_variant,p.R872H,ENST00000638252,,c.2615G>A,MODERATE,,tolerated(0.08),benign(0),-1;KCNMA1,missense_variant,p.R815H,ENST00000640626,,c.2444G>A,MODERATE,,tolerated(0.05),benign(0.007),-1;KCNMA1,missense_variant,p.R720H,ENST00000639730,,c.2159G>A,MODERATE,,tolerated(0.12),benign(0.007),-1;KCNMA1,missense_variant,p.R742H,ENST00000640353,,c.2225G>A,MODERATE,,tolerated(0.06),benign(0.007),-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639069,,n.2428G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639851,,n.3016G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000640570,,n.2415G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638999,,n.1977G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638370,,n.797G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000638751,,c.*1923G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000639968,,c.*1810G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000639483,,c.*1488G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000639995,,c.*696G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000640093,,c.*1615G>A,MODIFIER,,,,-1;KCNMA1,3_prime_UTR_variant,,ENST00000639691,,c.*1671G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000638632,,n.2316G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639657,,n.2794G>A,MODIFIER,,,,-1;KCNMA1,non_coding_transcript_exon_variant,,ENST00000639321,,n.1632G>A,MODIFIER,,,,-1;KCNMA1-AS1,intron_variant,,ENST00000426234,,n.437+10111C>T,MODIFIER,,,,1;KCNMA1-AS1,intron_variant,,ENST00000458661,,n.425+12964C>T,MODIFIER,,,,1;KCNMA1-AS1,intron_variant,,ENST00000600782,,n.205+12964C>T,MODIFIER,,,,1","T","ENSG00000156113","ENST00000286628","Transcript","missense_variant","missense_variant","3132/6261","2966/3711","989/1236","R/H","cGt/cAt","rs369646039",null,-1,"KCNMA1","HGNC","HGNC:6284","protein_coding",null,"CCDS60569.1","ENSP00000286628","Q12791.197",null,"UPI00003519E7","Q12791-1","NM_001161352.2","NM_001161352.2","A2",null,"tolerated(0.05)","benign(0.321)","24/28",null,"PDB-ENSP_mappings:3mt5.A;PDB-ENSP_mappings:3naf.A;PDB-ENSP_mappings:6v22.A;PDB-ENSP_mappings:6v22.B;PDB-ENSP_mappings:6v22.C;PDB-ENSP_mappings:6v22.D;PDB-ENSP_mappings:6v35.A;PDB-ENSP_mappings:6v35.B;PDB-ENSP_mappings:6v35.C;PDB-ENSP_mappings:6v35.D;PDB-ENSP_mappings:6v38.A;PDB-ENSP_mappings:6v38.B;PDB-ENSP_mappings:6v38.C;PDB-ENSP_mappings:6v38.D;PDB-ENSP_mappings:6v3g.A;PDB-ENSP_mappings:6v3g.B;PDB-ENSP_mappings:6v3g.C;PDB-ENSP_mappings:6v3g.D;PANTHER:PTHR10027;PANTHER:PTHR10027:SF28",0.0002,0.0008,0,0,0,0,0,0.0001163,"7.956e-06",0,0,0,0,0,"1.759e-05",0,0,0.0008,"AFR","4.058170088683255e-05","2.433560075587593e-05",0,0.000132590997964143,0,0,0,0,"1.5432100553880446e-05",0.000989119987934827,0,0.000989119987934827,"oth",{"$nulls":9},"MODERATE",null,"SNV",1,null,null,1,"GTTGACGTAAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM1211590;COSM1211591;COSM1965728;COSM4016044;COSM4016045;COSM4016046","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CDHR1",92211,"BI","GRCh38","chr10",84214268,84214268,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2227C>T","p.Arg743Trp","p.R743W","ENST00000623527","17/17",80,57,23,84,null,null,"CDHR1,missense_variant,p.R743W,ENST00000623527,NM_033100.4,c.2227C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.996),1;CDHR1,missense_variant,p.R482W,ENST00000372117,,c.1444C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;CDHR1,intron_variant,,ENST00000332904,NM_001171971.3,c.2040+920C>T,MODIFIER,,,,1;CDHR1,intron_variant,,ENST00000623399,,c.211+920C>T,MODIFIER,,,,1;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,,n.659C>T,MODIFIER,,,,1;CDHR1,downstream_gene_variant,,ENST00000622973,,,MODIFIER,,,,1","T","ENSG00000148600","ENST00000623527","Transcript","missense_variant","missense_variant","2451/6877","2227/2580","743/859","R/W","Cgg/Tgg","COSV60559791",null,1,"CDHR1","HGNC","HGNC:14550","protein_coding","YES","CCDS7372.1","ENSP00000485478","Q96JP9.142","F1T0L2.85","UPI0000161C2F","Q96JP9-1","NM_033100.4","NM_033100.4","P2",null,"deleterious_low_confidence(0)","probably_damaging(0.996)","17/17",null,"PANTHER:PTHR24028;PANTHER:PTHR24028:SF263",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GCAAGCGGCCC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM1967103","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR52I2",143502,"BI","GRCh38","chr11",4587304,4587304,"+","Missense_Mutation","SNP","A","A","T","rs1380674571",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.492A>T","p.Arg164Ser","p.R164S","ENST00000312614","2024-01-01",61,37,24,101,null,null,"OR52I2,missense_variant,p.R138S,ENST00000641896,,c.414A>T,MODERATE,,tolerated(0.26),benign(0.026),1;OR52I2,missense_variant,p.R164S,ENST00000312614,NM_001005170.2,c.492A>T,MODERATE,YES,tolerated(0.26),benign(0.026),1;OR52I2,missense_variant,p.R138S,ENST00000641486,,c.414A>T,MODERATE,,tolerated(0.26),benign(0.026),1","T","ENSG00000226288","ENST00000312614","Transcript","missense_variant","missense_variant","514/1115","492/1053","164/350","R/S","agA/agT","rs1380674571;COSV57044330",null,1,"OR52I2","HGNC","HGNC:15221","protein_coding","YES","CCDS31355.1","ENSP00000308764","Q8NH67.140",null,"UPI00003B2880",null,"NM_001005170.2",{"$nulls":3},"tolerated(0.26)","benign(0.026)","2024-01-01",null,"PROSITE_profiles:PS50262;CDD:cd15950;PANTHER:PTHR26450;PANTHER:PTHR26450:SF177;Gene3D:1.20.1070.10;Pfam:PF13853;Superfamily:SSF81321;Prints:PR00245",{"$nulls":8},"3.982e-06",0,0,0,"5.438e-05",0,0,0,0,"5.438e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"AAGAGAATTCT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4032952","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LMO2",4005,"BI","GRCh38","chr11",33864617,33864617,"+","Missense_Mutation","SNP","C","C","T","rs111991485",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.242G>A","p.Arg81Gln","p.R81Q","ENST00000395833","2024-02-03",27,18,9,29,null,null,"LMO2,missense_variant,p.R150Q,ENST00000257818,NM_005574.4,c.449G>A,MODERATE,YES,tolerated(0.06),probably_damaging(0.923),-1;LMO2,missense_variant,p.R81Q,ENST00000395833,NM_001142315.2&NM_001142316.2,c.242G>A,MODERATE,,tolerated(0.11),probably_damaging(0.991),-1;LMO2,downstream_gene_variant,,ENST00000493667,,,MODIFIER,,,,-1;LMO2,3_prime_UTR_variant,,ENST00000411482,,c.*186G>A,MODIFIER,,,,-1;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,,n.535G>A,MODIFIER,,,,-1;LMO2,downstream_gene_variant,,ENST00000465614,,,MODIFIER,,,,-1","T","ENSG00000135363","ENST00000395833","Transcript","missense_variant","missense_variant","672/1687","242/477","81/158","R/Q","cGg/cAg","rs111991485;COSV57645549",null,-1,"LMO2","HGNC","HGNC:6642","protein_coding",null,"CCDS44567.1","ENSP00000379175","P25791.191",null,"UPI0000000F36","P25791-1","NM_001142315.2;NM_001142316.2",null,"P1",null,"tolerated(0.11)","probably_damaging(0.991)","2024-02-03",null,"PDB-ENSP_mappings:2xjy.A;PDB-ENSP_mappings:2xjz.A;PDB-ENSP_mappings:2xjz.B;PDB-ENSP_mappings:2xjz.C;PDB-ENSP_mappings:2xjz.D;PDB-ENSP_mappings:2xjz.E;PDB-ENSP_mappings:2ypa.C;PDB-ENSP_mappings:4kfz.A;PDB-ENSP_mappings:4kfz.B;PROSITE_profiles:PS50023;CDD:cd09384;PANTHER:PTHR45787;PANTHER:PTHR45787:SF3;Gene3D:2.10.110.10;Pfam:PF00412;SMART:SM00132;Superfamily:SSF57716",{"$nulls":19},"1.35215996124316e-05",0,0,0,0,0,0,0,"3.086320066358894e-05",0,0,"3.086320066358894e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",1,"CTCTCCGGCAG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4032498","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ACCSL",390110,"BI","GRCh38","chr11",44053015,44053015,"+","Missense_Mutation","SNP","T","T","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.895T>A","p.Phe299Ile","p.F299I","ENST00000378832","2024-07-14",79,44,35,93,null,null,"ACCSL,missense_variant,p.F299I,ENST00000378832,NM_001363113.1&NM_001031854.2,c.895T>A,MODERATE,YES,deleterious(0),probably_damaging(0.987),1;ACCSL,3_prime_UTR_variant,,ENST00000527145,,c.*414T>A,MODIFIER,,,,1","A","ENSG00000205126","ENST00000378832","Transcript","missense_variant","missense_variant","951/1820","895/1707","299/568","F/I","Ttc/Atc","COSV66580284",null,1,"ACCSL","HGNC","HGNC:34391","protein_coding","YES","CCDS41636.1","ENSP00000368109","Q4AC99.111",null,"UPI000023785D",null,"NM_001363113.1;NM_001031854.2","NM_001031854.2","P1",null,"deleterious(0)","probably_damaging(0.987)","2024-07-14",null,"CDD:cd00609;PANTHER:PTHR43795;PANTHER:PTHR43795:SF1;Pfam:PF00155;Gene3D:3.90.1150.10;Gene3D:3.40.640.10;Superfamily:SSF53383",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ATCCTTTCCAG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4032795","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR5D13",390142,"BI","GRCh38","chr11",55773711,55773711,"+","Nonsense_Mutation","SNP","A","A","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.274A>T","p.Arg92Ter","p.R92*","ENST00000623930","2024-01-01",222,174,48,176,null,null,"OR5D13,stop_gained,p.R92*,ENST00000623930,NM_001001967.1,c.274A>T,HIGH,YES,,,1","T","ENSG00000279761","ENST00000623930","Transcript","stop_gained","stop_gained","274/945","274/945","92/314","R/*","Aga/Tga","COSV62332827",null,1,"OR5D13","HGNC","HGNC:15280","protein_coding","YES",null,"ENSP00000485428","Q8NGL4.136",null,"UPI0000041C36",null,"NM_001001967.1","NM_001001967.1","P1",{"$nulls":3},"2024-01-01",null,"Gene3D:1.20.1070.10;Pfam:PF13853;PROSITE_profiles:PS50262;PANTHER:PTHR26452;PANTHER:PTHR26452:SF798;Superfamily:SSF81321;CDD:cd15410",{"$nulls":33},1,{"$nulls":7},"HIGH",1,"SNV",null,null,1,null,"AATACAGAACC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4033671","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["GRM5",2915,"BI","GRCh38","chr11",88850054,88850054,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.763C>A","p.Gln255Lys","p.Q255K","ENST00000305447","2024-02-09",62,17,45,70,null,null,"GRM5,missense_variant,p.Q255K,ENST00000455756,NM_000842.4,c.763C>A,MODERATE,,tolerated(1),benign(0.031),-1;GRM5,missense_variant,p.Q255K,ENST00000305447,NM_001143831.2,c.763C>A,MODERATE,YES,tolerated(1),benign(0.192),-1;GRM5,missense_variant,p.Q255K,ENST00000305432,,c.763C>A,MODERATE,,tolerated(1),benign(0.031),-1","T","ENSG00000168959","ENST00000305447","Transcript","missense_variant","missense_variant","913/4571","763/3639","255/1212","Q/K","Cag/Aag","COSV100553329;COSV100554471",null,-1,"GRM5","HGNC","HGNC:4597","protein_coding","YES","CCDS44694.1","ENSP00000306138","P41594.187",null,"UPI000012F081","P41594-1","NM_001143831.2",null,"P4",null,"tolerated(1)","benign(0.192)","2024-02-09",null,"PDB-ENSP_mappings:3lmk.A;PDB-ENSP_mappings:3lmk.B;PDB-ENSP_mappings:6n4x.A;PDB-ENSP_mappings:6n4x.B;PDB-ENSP_mappings:6n4y.A;PDB-ENSP_mappings:6n4y.B;PDB-ENSP_mappings:6n4y.C;PDB-ENSP_mappings:6n4y.D;PDB-ENSP_mappings:6n50.A;PDB-ENSP_mappings:6n50.B;PDB-ENSP_mappings:6n50.C;PDB-ENSP_mappings:6n51.A;PDB-ENSP_mappings:6n51.B;PDB-ENSP_mappings:6n52.A;PDB-ENSP_mappings:6n52.B;CDD:cd06374;Pfam:PF01094;Gene3D:3.40.50.2300;Gene3D:3.40.50.2300;Superfamily:SSF53822;PANTHER:PTHR24060:SF30;PANTHER:PTHR24060",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"GCTCTGCTCCC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,null,"N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FGF6",2251,"BI","GRCh38","chr12",4434270,4434270,"+","Missense_Mutation","SNP","C","C","T","rs372807700",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.572G>A","p.Arg191Gln","p.R191Q","ENST00000228837","2024-03-03",94,50,44,89,null,null,"FGF6,missense_variant,p.R191Q,ENST00000228837,NM_020996.2,c.572G>A,MODERATE,YES,tolerated(0.07),possibly_damaging(0.904),-1;FGF6,intron_variant,,ENST00000543077,,c.88-5867G>A,MODIFIER,,,,-1","T","ENSG00000111241","ENST00000228837","Transcript","missense_variant","missense_variant","616/743","572/627","191/208","R/Q","cGg/cAg","rs372807700",null,-1,"FGF6","HGNC","HGNC:3684","protein_coding","YES","CCDS8527.1","ENSP00000228837","P10767.183",null,"UPI00000411BF",null,"NM_020996.2",null,"P1",null,"tolerated(0.07)","possibly_damaging(0.904)","2024-03-03",null,"CDD:cd00058;PANTHER:PTHR11486:SF25;PANTHER:PTHR11486;Pfam:PF00167;Gene3D:2.80.10.50;SMART:SM00442;Superfamily:SSF50353",{"$nulls":6},0,0.0001163,"2.783e-05",0,0,0,1.087E-4,0,"3.516e-05",0,"3.266e-05",0.0001163,"EA","7.437860040226951e-05","7.29926978237927e-05",0,0,0,2.01532006030902E-4,0,0,"9.258969657821581e-05",0,2.08680998184718E-4,"9.258969657821581e-05","nfe",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TGCCCCGCTTT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM1252416","N","Unknown",{"$nulls":3},"muse;varscan2"]
["KCNA5",3741,"BI","GRCh38","chr12",5045766,5045766,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1619G>A","p.Gly540Asp","p.G540D","ENST00000252321","2024-01-01",46,23,23,62,null,null,"KCNA5,missense_variant,p.G540D,ENST00000252321,NM_002234.4,c.1619G>A,MODERATE,YES,tolerated(0.47),benign(0.055),1","A","ENSG00000130037","ENST00000252321","Transcript","missense_variant","missense_variant","1888/2910","1619/1842","540/613","G/D","gGc/gAc","COSV52904086",null,1,"KCNA5","HGNC","HGNC:6224","protein_coding","YES","CCDS8536.1","ENSP00000252321","P22460.195",null,"UPI000013CD56","P22460-1","NM_002234.4","NM_002234.4","P1",null,"tolerated(0.47)","benign(0.055)","2024-01-01",null,"Prints:PR01512;PANTHER:PTHR11537;PANTHER:PTHR11537:SF250;MobiDB_lite:mobidb-lite",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",null,null,1,1,"GCAGGGCACTC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4042658","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["BCAT1",586,"BI","GRCh38","chr12",24849933,24849933,"+","Missense_Mutation","SNP","T","T","G","rs376524284",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.527A>C","p.Lys176Thr","p.K176T","ENST00000261192","2024-06-11",375,46,329,62,null,null,"BCAT1,missense_variant,p.K176T,ENST00000261192,NM_005504.7,c.527A>C,MODERATE,,tolerated(0.4),benign(0.035),-1;BCAT1,missense_variant,p.K175T,ENST00000538118,NM_001178094.2,c.524A>C,MODERATE,,tolerated(0.42),benign(0.013),-1;BCAT1,missense_variant,p.K115T,ENST00000342945,NM_001178092.2,c.344A>C,MODERATE,,tolerated(0.42),benign(0.038),-1;BCAT1,missense_variant,p.K188T,ENST00000539282,NM_001178093.2,c.563A>C,MODERATE,YES,tolerated(0.38),benign(0.053),-1;BCAT1,missense_variant,p.K139T,ENST00000539780,NM_001178091.2,c.416A>C,MODERATE,,tolerated(0.35),benign(0.038),-1;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,,n.947A>C,MODIFIER,,,,-1;BCAT1,missense_variant,p.K79T,ENST00000612790,,c.236A>C,MODERATE,,tolerated(0.22),benign(0.072),-1","G","ENSG00000060982","ENST00000261192","Transcript","missense_variant","missense_variant","696/9314","527/1161","176/386","K/T","aAg/aCg","rs376524284;COSV53907997",null,-1,"BCAT1","HGNC","HGNC:976","protein_coding",null,"CCDS44845.1","ENSP00000261192","P54687.188","A0A024RAV0.51","UPI0000213DBE","P54687-1","NM_005504.7","NM_005504.7","A1",null,"tolerated(0.4)","benign(0.035)","2024-06-11",null,"PDB-ENSP_mappings:2abj.A;PDB-ENSP_mappings:2abj.D;PDB-ENSP_mappings:2abj.G;PDB-ENSP_mappings:2abj.J;PDB-ENSP_mappings:2cog.A;PDB-ENSP_mappings:2cog.B;PDB-ENSP_mappings:2coi.A;PDB-ENSP_mappings:2coi.B;PDB-ENSP_mappings:2coj.A;PDB-ENSP_mappings:2coj.B;CDD:cd01557;PANTHER:PTHR11825:SF70;PANTHER:PTHR11825;Pfam:PF01063;TIGRFAM:TIGR01123;PIRSF:PIRSF006468;Gene3D:3.30.470.10;Superfamily:SSF56752",{"$nulls":8},0,0,0,0,0,0,0,0,0,0,"gnomAD_AFR;gnomAD_AMR;gnomAD_ASJ;gnomAD_EAS;gnomAD_FIN;gnomAD_NFE;gnomAD_OTH;gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GCTTCTTGACT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM2202396","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LRRK2",120892,"BI","GRCh38","chr12",40304125,40304125,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.3768A>C","p.Lys1256Asn","p.K1256N","ENST00000298910","27/51",86,51,35,70,null,null,"LRRK2,missense_variant,p.K1256N,ENST00000298910,NM_198578.4,c.3768A>C,MODERATE,YES,deleterious(0.04),benign(0.164),1;LRRK2,missense_variant,p.K1256N,ENST00000343742,,c.3768A>C,MODERATE,,tolerated(0.06),benign(0.005),1;LRRK2,3_prime_UTR_variant,,ENST00000430804,,c.*441A>C,MODIFIER,,,,1;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,,n.449A>C,MODIFIER,,,,1","C","ENSG00000188906","ENST00000298910","Transcript","missense_variant","missense_variant","3903/9239","3768/7584","1256/2527","K/N","aaA/aaC","COSV54145189",null,1,"LRRK2","HGNC","HGNC:18618","protein_coding","YES","CCDS31774.1","ENSP00000298910","Q5S007.172",null,"UPI00006C128E",null,"NM_198578.4","NM_198578.4","P1",null,"deleterious(0.04)","benign(0.164)","27/51",null,"Gene3D:3.80.10.10;Pfam:PF12799;SMART:SM00369;Superfamily:SSF52058;PROSITE_profiles:PS51450;PANTHER:PTHR45752;PANTHER:PTHR45752:SF7",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"AATAAACTGAA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4041632;COSM4041633","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["C1QL4",338761,"BI","GRCh38","chr12",49336176,49336176,"+","Missense_Mutation","SNP","G","G","A","rs898765199",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.302C>T","p.Ala101Val","p.A101V","ENST00000334221","2024-01-02",16,13,3,12,null,null,"C1QL4,missense_variant,p.A101V,ENST00000334221,NM_001008223.2,c.302C>T,MODERATE,YES,tolerated(0.95),benign(0),-1;TROAP,downstream_gene_variant,,ENST00000257909,NM_005480.4,,MODIFIER,,,,1;TROAP,downstream_gene_variant,,ENST00000547923,,,MODIFIER,,,,1;TROAP,downstream_gene_variant,,ENST00000551245,,,MODIFIER,YES,,,1","A","ENSG00000186897","ENST00000334221","Transcript","missense_variant","missense_variant","1013/2073","302/717","101/238","A/V","gCg/gTg","rs898765199;COSV57743239",null,-1,"C1QL4","HGNC","HGNC:31416","protein_coding","YES","CCDS31793.1","ENSP00000335285","Q86Z23.121","A0A3B0INP7.13","UPI00000033B3",null,"NM_001008223.2","NM_001008223.2","P1",null,"tolerated(0.95)","benign(0)","2024-01-02",null,"PANTHER:PTHR22923;PANTHER:PTHR22923:SF67;Low_complexity_(Seg):seg",{"$nulls":19},"6.7644400587596465e-06",0,0,0,0,0,0,0,"1.5439200069522485e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CGGGCGCCACC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4042449","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MGAT4C",25834,"BI","GRCh38","chr12",85980086,85980086,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.640G>T","p.Ala214Ser","p.A214S","ENST00000548651","2024-05-05",141,89,52,95,null,null,"MGAT4C,missense_variant,p.A214S,ENST00000611864,NM_001351287.2&NM_001351288.2&NM_001351282.2&NM_001351289.2,c.640G>T,MODERATE,YES,tolerated(0.06),benign(0.432),-1;MGAT4C,missense_variant,p.A214S,ENST00000620241,NM_001351291.2,c.640G>T,MODERATE,,tolerated(0.06),benign(0.432),-1;MGAT4C,missense_variant,p.A214S,ENST00000621808,NM_013244.5&NM_001351286.2&NM_001351285.2,c.640G>T,MODERATE,,tolerated(0.06),benign(0.432),-1;MGAT4C,missense_variant,p.A214S,ENST00000548651,,c.640G>T,MODERATE,,tolerated(0.06),benign(0.432),-1;MGAT4C,missense_variant,p.A214S,ENST00000552808,NM_001351284.2&NM_001351283.2,c.640G>T,MODERATE,,tolerated(0.06),benign(0.432),-1;MGAT4C,missense_variant,p.A214S,ENST00000547225,,c.640G>T,MODERATE,,tolerated(0.08),benign(0.432),-1;MGAT4C,intron_variant,,ENST00000552435,,c.296-291G>T,MODIFIER,,,,-1","A","ENSG00000182050","ENST00000548651","Transcript","missense_variant","missense_variant","818/2159","640/1437","214/478","A/S","Gcc/Tcc","COSV59830301",null,-1,"MGAT4C","HGNC","HGNC:30871","protein_coding",null,"CCDS9030.1","ENSP00000447253","Q9UBM8.146",null,"UPI00001B002C","Q9UBM8-1",null,null,"P1",null,"tolerated(0.06)","benign(0.432)","2024-05-05",null,"PANTHER:PTHR12062:SF14;PANTHER:PTHR12062;Pfam:PF04666",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,null,"ATTGGCACAAA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4045227;COSM4907212","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KSR2",283455,"BI","GRCh38","chr12",117667612,117667612,"+","Missense_Mutation","SNP","C","C","T","rs776051980",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1033G>A","p.Val345Ile","p.V345I","ENST00000339824","2024-05-20",39,24,15,26,null,null,"KSR2,missense_variant,p.V345I,ENST00000339824,NM_173598.6,c.1033G>A,MODERATE,YES,tolerated(0.55),benign(0.229),-1;KSR2,missense_variant,p.V316I,ENST00000425217,,c.946G>A,MODERATE,,tolerated(0.53),benign(0.229),-1;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,,n.179G>A,MODIFIER,,,,-1","T","ENSG00000171435","ENST00000339824","Transcript","missense_variant","missense_variant","1768/17775","1033/2853","345/950","V/I","Gta/Ata","rs776051980;COSV56666620",null,-1,"KSR2","HGNC","HGNC:18610","protein_coding","YES",null,"ENSP00000339952","Q6VAB6.140",null,"UPI000152636C","Q6VAB6-1","NM_173598.6","NM_173598.6","P1",null,"tolerated(0.55)","benign(0.229)","2024-05-20",null,"PANTHER:PTHR23257;PANTHER:PTHR23257:SF775",{"$nulls":8},0.0002972,0,1.879E-3,0,"5.592e-05",0.0002344,"1.8e-05",0,"3.324e-05",1.879E-3,"gnomAD_AMR","5.408180004451424e-05",0,0,0.000198780995560809,0,0,"9.414419764652848e-05",0,"6.173220026539639e-05",0,0,0.000198780995560809,"amr",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",1,"GCCTACGCTGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4039171;COSM4039172;COSM4697080","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["EP400",57634,"BI","GRCh38","chr12",132062111,132062111,"+","Missense_Mutation","SNP","C","C","T","rs1387041475",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.7886C>T","p.Thr2629Met","p.T2629M","ENST00000389561","46/53",48,34,14,58,null,null,"EP400,missense_variant,p.T2629M,ENST00000389561,NM_015409.5,c.7886C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.99),1;EP400,upstream_gene_variant,,ENST00000330386,,,MODIFIER,,,,1;EP400,upstream_gene_variant,,ENST00000611739,,,MODIFIER,,,,1","T","ENSG00000183495","ENST00000389561","Transcript","missense_variant","missense_variant;splice_region_variant","8016/12289","7886/9372","2629/3123","T/M","aCg/aTg","rs1387041475;COSV57764066",null,1,"EP400","HGNC","HGNC:11958","protein_coding","YES","CCDS31929.2","ENSP00000374212","Q96L91.184",null,"UPI00004566BC","Q96L91-2","NM_015409.5","NM_015409.5","P1",null,"deleterious_low_confidence(0)","probably_damaging(0.99)","46/53",null,"PANTHER:PTHR46459",{"$nulls":8},"8.163e-06",0.000131,0,0,0,0,0,0,0,0.000131,"gnomAD_AFR","3.379789995960891e-05",0,0,0,0,0,0,0,"7.715100218774751e-05",0,0,"7.715100218774751e-05","nfe",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"CTAGACGCCGG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4040290;COSM4040291","N","Unknown",{"$nulls":3},"muse;mutect2"]
["MTUS2",23281,"BI","GRCh38","chr13",29033964,29033964,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2285C>T","p.Ser762Leu","p.S762L","ENST00000612955","2024-04-16",52,28,24,52,null,null,"MTUS2,missense_variant,p.S762L,ENST00000612955,NM_001366650.1&NM_001366651.1&NM_001033602.3,c.2285C>T,MODERATE,YES,deleterious(0),probably_damaging(0.925),1","T","ENSG00000132938","ENST00000612955","Transcript","missense_variant","missense_variant","2864/7430","2285/4110","762/1369","S/L","tCa/tTa","COSV70914059",null,1,"MTUS2","HGNC","HGNC:20595","protein_coding","YES",null,"ENSP00000483729","Q5JR59.136",null,"UPI0000E00F4A","Q5JR59-2","NM_001366650.1;NM_001366651.1;NM_001033602.3",{"$nulls":3},"deleterious(0)","probably_damaging(0.925)","2024-04-16",null,"PANTHER:PTHR24200;PANTHER:PTHR24200:SF14",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,null,"TCGGTCAGCCA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4046937","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NBEA",26960,"BI","GRCh38","chr13",35070810,35070810,"+","Missense_Mutation","SNP","A","A","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1529A>T","p.Asp510Val","p.D510V","ENST00000400445","10/58",101,61,40,121,null,null,"NBEA,missense_variant,p.D510V,ENST00000400445,NM_015678.5,c.1529A>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;NBEA,missense_variant,p.D510V,ENST00000310336,,c.1529A>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;NBEA,missense_variant,p.D510V,ENST00000629018,,c.1529A>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;NBEA,missense_variant,p.D510V,ENST00000379939,NM_001379245.1,c.1529A>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;NBEA,non_coding_transcript_exon_variant,,ENST00000497540,,n.246A>T,MODIFIER,,,,1","T","ENSG00000172915","ENST00000400445","Transcript","missense_variant","missense_variant","2063/11119","1529/8841","510/2946","D/V","gAt/gTt","COSV59762903",null,1,"NBEA","HGNC","HGNC:7648","protein_coding",null,"CCDS45026.1","ENSP00000383295","Q8NFP9.176",null,"UPI00004FF92F",null,"NM_015678.5",null,"P4",null,"deleterious(0)","probably_damaging(0.994)","10/58",null,"Superfamily:SSF48371;Pfam:PF15787;PANTHER:PTHR13743;PANTHER:PTHR13743:SF62",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",5,null,1,1,"ATTGGATAATA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4047174;COSM4047175","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["POSTN",10631,"BI","GRCh38","chr13",37563343,37563343,"+","Missense_Mutation","SNP","C","C","T","rs200287900",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2501G>A","p.Arg834His","p.R834H","ENST00000379747","23/23",56,44,12,51,null,null,"POSTN,missense_variant,p.R834H,ENST00000379747,NM_006475.3,c.2501G>A,MODERATE,YES,deleterious_low_confidence(0),benign(0),-1;POSTN,missense_variant,p.R779H,ENST00000541179,NM_001135935.1,c.2336G>A,MODERATE,,tolerated_low_confidence(0.13),benign(0),-1;POSTN,missense_variant,p.R806H,ENST00000379749,NM_001330517.2,c.2417G>A,MODERATE,,deleterious_low_confidence(0),benign(0),-1;POSTN,missense_variant,p.R807H,ENST00000379743,NM_001286665.2,c.2420G>A,MODERATE,,tolerated_low_confidence(0.12),benign(0),-1;POSTN,missense_variant,p.R747H,ENST00000541481,NM_001286666.1&NM_001286667.2,c.2240G>A,MODERATE,,tolerated_low_confidence(0.16),benign(0),-1;POSTN,missense_variant,p.R777H,ENST00000379742,NM_001135936.2&NM_001135934.2,c.2330G>A,MODERATE,,tolerated_low_confidence(0.17),benign(0),-1;POSTN,non_coding_transcript_exon_variant,,ENST00000478947,,n.513G>A,MODIFIER,,,,-1;POSTN,non_coding_transcript_exon_variant,,ENST00000473823,,n.380G>A,MODIFIER,,,,-1;POSTN,downstream_gene_variant,,ENST00000474646,,,MODIFIER,,,,-1","T","ENSG00000133110","ENST00000379747","Transcript","missense_variant","missense_variant","2543/3301","2501/2511","834/836","R/H","cGt/cAt","rs200287900;COSV65711996",null,-1,"POSTN","HGNC","HGNC:16953","protein_coding","YES","CCDS9364.1","ENSP00000369071","Q15063.177","A0A024RDS2.50","UPI000013CEB8","Q15063-1","NM_006475.3","NM_006475.3","P4",null,"deleterious_low_confidence(0)","benign(0)","23/23",null,null,0.0002,0,0,1E-3,0,0,null,null,"2.001e-05",0.0001235,0,0,1.097E-4,0,"8.841e-06",0,0,1E-3,"EAS","5.415800114860758e-05","7.30460014892742e-05",0,0,0,0.000807103002443909,0,0,"1.5444500604644418e-05",0,0,0.000807103002443909,"eas",null,"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"GAGAACGACCT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4047448","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MTRF1",9617,"BI","GRCh38","chr13",41260747,41260747,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.161G>A","p.Ser54Asn","p.S54N","ENST00000379477","2024-04-12",211,158,53,239,null,null,"MTRF1,missense_variant,p.S54N,ENST00000379480,NM_001354074.1&NM_001354076.1&NM_004294.4,c.161G>A,MODERATE,YES,tolerated(1),benign(0),-1;MTRF1,missense_variant,p.S54N,ENST00000379477,NM_001354073.1,c.161G>A,MODERATE,,tolerated(1),benign(0),-1;MTRF1,missense_variant,p.S54N,ENST00000452359,,c.161G>A,MODERATE,,tolerated(1),benign(0),-1;MTRF1,missense_variant,p.S54N,ENST00000430347,,c.161G>A,MODERATE,,tolerated(1),benign(0),-1;MTRF1,upstream_gene_variant,,ENST00000480434,,,MODIFIER,,,,-1;MTRF1,downstream_gene_variant,,ENST00000492827,,,MODIFIER,,,,-1;MTRF1,downstream_gene_variant,,ENST00000498245,,,MODIFIER,,,,-1;MTRF1,missense_variant,p.S54N,ENST00000239852,,c.161G>A,MODERATE,,tolerated(1),benign(0),-1;MTRF1,missense_variant,p.S54N,ENST00000497679,,c.161G>A,MODERATE,,tolerated(1),benign(0),-1","T","ENSG00000120662","ENST00000379477","Transcript","missense_variant","missense_variant","631/1948","161/1338","54/445","S/N","aGt/aAt","COSV53480806",null,-1,"MTRF1","HGNC","HGNC:7469","protein_coding",null,"CCDS9378.1","ENSP00000368790","O75570.160","A0A024RDT1.45","UPI0000035FC6","O75570-1","NM_001354073.1",null,"P1",null,"tolerated(1)","benign(0)","2024-04-12",null,"PANTHER:PTHR43804;PANTHER:PTHR43804:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"TCTTACTTAAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4047623","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYCBP2",23077,"BI","GRCh38","chr13",77090153,77090153,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.10364C>A","p.Ala3455Glu","p.A3455E","ENST00000357337","61/84",158,78,80,129,null,null,"MYCBP2,missense_variant,p.A3493E,ENST00000544440,NM_015057.5,c.10478C>A,MODERATE,YES,tolerated(0.08),benign(0.431),-1;MYCBP2,missense_variant,p.A3455E,ENST00000357337,,c.10364C>A,MODERATE,,tolerated(0.07),benign(0.166),-1;AC001226.2,intron_variant,,ENST00000638101,,c.170-7772G>T,MODIFIER,,,,1;MYCBP2,upstream_gene_variant,,ENST00000429715,,,MODIFIER,,,,-1;MYCBP2,downstream_gene_variant,,ENST00000485061,,,MODIFIER,,,,-1;AC001226.2,intron_variant,,ENST00000637192,,c.214-19495G>T,MODIFIER,,,,1;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000630676,,n.49G>T,MODIFIER,,,,1;MYCBP2-AS1,intron_variant,,ENST00000593933,,n.100-7772G>T,MODIFIER,,,,1;MYCBP2-AS1,intron_variant,,ENST00000627409,,n.31+13220G>T,MODIFIER,,,,1;MYCBP2-AS1,intron_variant,,ENST00000629771,,n.32-2318G>T,MODIFIER,,,,1;MYCBP2-AS1,downstream_gene_variant,,ENST00000422231,,,MODIFIER,,,,1;MYCBP2-AS1,downstream_gene_variant,,ENST00000448470,,,MODIFIER,,,,1;MYCBP2-AS1,downstream_gene_variant,,ENST00000450627,,,MODIFIER,,,,1","T","ENSG00000005810","ENST00000357337","Transcript","missense_variant","missense_variant","10457/14736","10364/13923","3455/4640","A/E","gCa/gAa","COSV62011215",null,-1,"MYCBP2","HGNC","HGNC:23386","protein_coding",null,null,"ENSP00000349892",null,"A0A499FJI4.5","UPI0000212757",{"$nulls":3},"A2",null,"tolerated(0.07)","benign(0.166)","61/84",null,"PANTHER:PTHR45943;PANTHER:PTHR45943:SF1",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CTCGTGCAGGT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4048439;COSM4048440;COSM4048441","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["FMN1",342184,"BI","GRCh38","chr15",32969447,32969447,"+","Missense_Mutation","SNP","G","G","A","rs1003249173",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2254C>T","p.Arg752Trp","p.R752W","ENST00000616417","2024-08-21",170,93,77,145,null,null,"FMN1,missense_variant,p.R752W,ENST00000616417,NM_001277313.2,c.2254C>T,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;FMN1,missense_variant,p.R529W,ENST00000334528,NM_001103184.4,c.1585C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;FMN1,missense_variant,p.R654W,ENST00000561249,,c.1960C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;FMN1,missense_variant,p.R174W,ENST00000672206,,c.520C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(1),-1;AC018515.1,upstream_gene_variant,,ENST00000391113,,,MODIFIER,YES,,,1","A","ENSG00000248905","ENST00000616417","Transcript","missense_variant","missense_variant","2739/13511","2254/4260","752/1419","R/W","Cgg/Tgg","rs1003249173;CM1514853;COSV57918440",null,-1,"FMN1","HGNC","HGNC:3768","protein_coding","YES","CCDS61581.1","ENSP00000479134","Q68DA7.125",null,"UPI0001AE68B4","Q68DA7-1","NM_001277313.2","NM_001277313.2","P4",null,"deleterious(0)","probably_damaging(0.995)","2024-08-21",null,"PANTHER:PTHR13037;PANTHER:PTHR13037:SF11",{"$nulls":8},"8.033e-06",0,0,0,0,0,"1.772e-05",0,0,"1.772e-05","gnomAD_NFE",{"$nulls":14},"0;0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1;1",null,"GCCCCGGATAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4054019;COSM4054020","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RPAP1",26015,"BI","GRCh38","chr15",41520429,41520429,"+","Missense_Mutation","SNP","C","C","T","rs143725774",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.3757G>A","p.Val1253Met","p.V1253M","ENST00000304330","22/25",59,37,22,38,null,null,"RPAP1,missense_variant,p.V1253M,ENST00000304330,NM_015540.4,c.3757G>A,MODERATE,YES,tolerated(0.07),benign(0.068),-1;RPAP1,intron_variant,,ENST00000561603,,c.3038+1309G>A,MODIFIER,,,,-1;RPAP1,downstream_gene_variant,,ENST00000565035,,,MODIFIER,,,,-1;RPAP1,missense_variant,p.V1253M,ENST00000562303,,c.3757G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.854),-1;RPAP1,non_coding_transcript_exon_variant,,ENST00000565167,,n.773G>A,MODIFIER,,,,-1;RPAP1,downstream_gene_variant,,ENST00000561631,,,MODIFIER,,,,-1;RPAP1,downstream_gene_variant,,ENST00000564934,,,MODIFIER,,,,-1","T","ENSG00000103932","ENST00000304330","Transcript","missense_variant","missense_variant","3872/4663","3757/4182","1253/1393","V/M","Gtg/Atg","rs143725774",null,-1,"RPAP1","HGNC","HGNC:24567","protein_coding","YES","CCDS10079.1","ENSP00000306123","Q9BWH6.139",null,"UPI000013D465","Q9BWH6-1","NM_015540.4","NM_015540.4","P2",null,"tolerated(0.07)","benign(0.068)","22/25",null,"PANTHER:PTHR21483",0.0002,0.0008,0,0,0,0,null,null,"1.598e-05",1.237E-4,"2.896e-05",0,0,0,"8.851e-06",0,0,0.0008,"AFR","4.7321598685812205e-05",1.70225001056678E-4,0,0,0,0,0,0,0,0,0,1.70225001056678E-4,"afr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TCCCACGTGTT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4054516","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MYO5A",4644,"BI","GRCh38","chr15",52375443,52375443,"+","Missense_Mutation","SNP","C","C","A","rs561485938",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2438G>T","p.Arg813Leu","p.R813L","ENST00000399231","20/41",64,41,23,56,null,null,"MYO5A,missense_variant,p.R813L,ENST00000399231,NM_000259.3&NM_001382349.1,c.2438G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.77),-1;MYO5A,missense_variant,p.R813L,ENST00000399233,NM_001382347.1&NM_001382348.1,c.2438G>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.737),-1;MYO5A,missense_variant,p.R813L,ENST00000356338,NM_001142495.2,c.2438G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.796),-1;MYO5A,missense_variant,p.R813L,ENST00000553916,,c.2438G>T,MODERATE,,deleterious(0.02),possibly_damaging(0.622),-1;MYO5A,3_prime_UTR_variant,,ENST00000556196,,c.*2122G>T,MODIFIER,,,,-1","A","ENSG00000197535","ENST00000399231","Transcript","missense_variant","missense_variant","2682/12225","2438/5568","813/1855","R/L","cGc/cTc","rs561485938;COSV62557059;COSV62561239",null,-1,"MYO5A","HGNC","HGNC:7602","protein_coding",null,"CCDS42037.1","ENSP00000382177","Q9Y4I1.198",null,"UPI0000E445E1","Q9Y4I1-1","NM_000259.3;NM_001382349.1",null,"A1",null,"deleterious(0.02)","possibly_damaging(0.77)","20/41",null,"Gene3D:1.20.5.190;PROSITE_profiles:PS50096;PANTHER:PTHR13140;PANTHER:PTHR13140:SF273;SMART:SM00015;Superfamily:SSF52540;Superfamily:SSF52540",{"$nulls":8},"4.013e-06",0,0,0,0,0,0,0,"3.268e-05","3.268e-05","gnomAD_SAS",{"$nulls":14},"0;1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1;1",1,"TTCTGCGCAGA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4055566;COSM4055567","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CILP",8483,"BI","GRCh38","chr15",65198770,65198770,"+","Missense_Mutation","SNP","G","G","A","rs370038983",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1516C>T","p.Arg506Cys","p.R506C","ENST00000261883","2024-09-09",80,45,35,64,null,null,"CILP,missense_variant,p.R506C,ENST00000261883,NM_003613.4,c.1516C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1","A","ENSG00000138615","ENST00000261883","Transcript","missense_variant","missense_variant","1668/5678","1516/3555","506/1184","R/C","Cgc/Tgc","rs370038983",null,-1,"CILP","HGNC","HGNC:1980","protein_coding","YES","CCDS10203.1","ENSP00000261883","O75339.157",null,"UPI000013D21B",null,"NM_003613.4","NM_003613.4","P1",null,"deleterious(0)","probably_damaging(0.998)","2024-09-09",null,"PANTHER:PTHR15031;PANTHER:PTHR15031:SF3",{"$nulls":6},0,0.0001163,"2.787e-05","6.155e-05","8.675e-05",0,0,0,"1.762e-05",0,"3.267e-05",0.0001163,"EA","4.733179957838729e-05",1.21630997455213E-4,0,0.000132556000608019,0,0,0,0,0,0,0,0.000132556000608019,"amr",{"$nulls":9},"MODERATE",1,"SNV",1,null,null,1,"AAAGCGCATGG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4056277","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["INSYN1",388135,"BI","GRCh38","chr15",73740398,73740398,"+","Missense_Mutation","SNP","C","C","T","rs1470313482",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.401G>A","p.Gly134Glu","p.G134E","ENST00000569673","2024-03-03",152,95,57,117,null,null,"INSYN1,missense_variant,p.G134E,ENST00000569673,NM_001039614.2,c.401G>A,MODERATE,YES,tolerated(0.2),benign(0.001),-1;INSYN1,missense_variant,p.G106E,ENST00000559817,NM_001303254.1,c.317G>A,MODERATE,,tolerated_low_confidence(0.06),benign(0.001),-1;INSYN1,non_coding_transcript_exon_variant,,ENST00000558834,,n.127G>A,MODIFIER,,,,-1","T","ENSG00000205363","ENST00000569673","Transcript","missense_variant","missense_variant","1606/6573","401/882","134/293","G/E","gGg/gAg","rs1470313482;COSV65837183",null,-1,"INSYN1","HGNC","HGNC:33753","protein_coding","YES","CCDS32289.1","ENSP00000457205","Q2T9L4.97",null,"UPI00001D778D",null,"NM_001039614.2",null,"P1",null,"tolerated(0.2)","benign(0.001)","2024-03-03",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR15917;PANTHER:PTHR15917:SF3;Pfam:PF15252",{"$nulls":19},"6.762420071027009e-06",0,0,0,0,0,0,0,"1.5436400644830428e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"CAGCCCCTGGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4056751","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ARNT2",9915,"BI","GRCh38","chr15",80514369,80514369,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.841C>T","p.His281Tyr","p.H281Y","ENST00000303329","2024-08-19",278,166,111,206,null,null,"ARNT2,missense_variant,p.H270Y,ENST00000533983,,c.808C>T,MODERATE,,deleterious(0),probably_damaging(0.939),1;ARNT2,missense_variant,p.H281Y,ENST00000303329,NM_014862.4,c.841C>T,MODERATE,YES,deleterious(0),probably_damaging(0.939),1;ARNT2,missense_variant,p.H281Y,ENST00000622346,,c.841C>T,MODERATE,,deleterious(0),possibly_damaging(0.857),1;ARNT2,missense_variant,p.H270Y,ENST00000527771,,c.808C>T,MODERATE,,deleterious(0),probably_damaging(0.939),1;ARNT2,missense_variant,p.H55Y,ENST00000525103,,c.163C>T,MODERATE,,deleterious(0),probably_damaging(0.939),1","T","ENSG00000172379","ENST00000303329","Transcript","missense_variant","missense_variant","975/6523","841/2154","281/717","H/Y","Cac/Tac","COSV57582067",null,1,"ARNT2","HGNC","HGNC:16876","protein_coding","YES","CCDS32307.1","ENSP00000307479","Q9HBZ2.179","X5DQN9.47","UPI00001FEA05","Q9HBZ2-1","NM_014862.4","NM_014862.4","P4",null,"deleterious(0)","probably_damaging(0.939)","2024-08-19",null,"Gene3D:3.30.450.20;Prints:PR00785;PANTHER:PTHR23042;PANTHER:PTHR23042:SF6;Superfamily:SSF55785",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"TGGTCCACTGT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4057239","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF267",10308,"BI","GRCh38","chr16",31915330,31915331,"+","Frame_Shift_Ins","INS","-","-","T","novel",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1083dup","p.Asn362Ter","p.N362*","ENST00000300870","2024-04-04",132,62,70,180,null,null,"ZNF267,frameshift_variant,p.N362*,ENST00000300870,NM_003414.6,c.1083dup,HIGH,YES,,,1;ZNF267,downstream_gene_variant,,ENST00000394846,,,MODIFIER,,,,1;ZNF267,downstream_gene_variant,,ENST00000562971,NM_001265588.2,,MODIFIER,,,,1;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,,n.3479dup,MODIFIER,,,,1;ZNF267,downstream_gene_variant,,ENST00000561814,,,MODIFIER,,,,1;ZNF267,downstream_gene_variant,,ENST00000566541,,,MODIFIER,,,,1","T","ENSG00000185947","ENST00000300870","Transcript","frameshift_variant","frameshift_variant","1241-1242/3268","1081-1082/2232","361/743","L/LX","ctt/cTtt",null,null,1,"ZNF267","HGNC","HGNC:13060","protein_coding","YES","CCDS32440.1","ENSP00000300870","Q14586.201",null,"UPI000045696F",null,"NM_003414.6","NM_003414.6","P1",{"$nulls":3},"2024-04-04",null,"Gene3D:3.30.160.60;PANTHER:PTHR24376;PANTHER:PTHR24376:SF88",{"$nulls":41},"HIGH",1,"insertion",1,2,null,null,"TTAACCTTAAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,null,"N","Unknown",{"$nulls":3},"mutect2;pindel;varscan2"]
["DNAH2",146754,"BI","GRCh38","chr17",7786328,7786328,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.6334T>G","p.Phe2112Val","p.F2112V","ENST00000389173","39/85",34,12,21,51,null,null,"DNAH2,missense_variant,p.F2112V,ENST00000572933,NM_020877.4,c.6334T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.794),1;DNAH2,missense_variant,p.F2112V,ENST00000389173,,c.6334T>G,MODERATE,,deleterious(0),possibly_damaging(0.794),1;DNAH2,3_prime_UTR_variant,,ENST00000574518,,c.*2710T>G,MODIFIER,,,,1","G","ENSG00000183914","ENST00000389173","Transcript","missense_variant","missense_variant","6348/13505","6334/13284","2112/4427","F/V","Ttc/Gtc","COSV66716842",null,1,"DNAH2","HGNC","HGNC:2948","protein_coding",null,"CCDS32551.1","ENSP00000373825","Q9P225.136",null,"UPI00005B2F0D","Q9P225-1",null,null,"P1",null,"deleterious(0)","possibly_damaging(0.794)","39/85",null,"Gene3D:3.40.50.300;PANTHER:PTHR10676;PANTHER:PTHR10676:SF183;Superfamily:SSF52540",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"CTAACTTCAAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4070229","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF287",57336,"BI","GRCh38","chr17",16567542,16567542,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.190C>G","p.Arg64Gly","p.R64G","ENST00000395824","2024-02-06",80,18,62,120,null,null,"ZNF287,missense_variant,p.R64G,ENST00000395825,NM_020653.4&NM_001346170.1&NM_001346171.1&NM_001346168.1&NM_001346169.1&NM_001346167.1,c.190C>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;ZNF287,missense_variant,p.R64G,ENST00000395824,,c.190C>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;ZNF287,downstream_gene_variant,,ENST00000448349,,,MODIFIER,,,,-1;ZNF287,non_coding_transcript_exon_variant,,ENST00000578303,,n.387C>G,MODIFIER,,,,-1;ZNF287,downstream_gene_variant,,ENST00000461555,,,MODIFIER,,,,-1;ZNF287,upstream_gene_variant,,ENST00000498796,,,MODIFIER,,,,-1","C","ENSG00000141040","ENST00000395824","Transcript","missense_variant","missense_variant","808/3373","190/2286","64/761","R/G","Cga/Gga","COSV67688160;COSV67688733",null,-1,"ZNF287","HGNC","HGNC:13502","protein_coding",null,"CCDS11179.2","ENSP00000379168","Q9HBT7.163",null,"UPI0000200A57",{"$nulls":3},"P1",null,"deleterious(0)","probably_damaging(0.999)","2024-02-06",null,"Gene3D:1.10.4020.10;Pfam:PF02023;PROSITE_profiles:PS50804;SMART:SM00431;Superfamily:SSF47353;CDD:cd07936",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"1;1",null,"CTTTCGAGGAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4064228","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ERBB2",2064,"BI","GRCh38","chr17",39707032,39707032,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.116C>T","p.Pro39Leu","p.P39L","ENST00000269571","2024-02-27",52,17,35,76,null,null,"ERBB2,missense_variant,p.P9L,ENST00000584601,NM_001382782.1&NM_001005862.3,c.26C>T,MODERATE,,tolerated(0.73),benign(0),1;ERBB2,missense_variant,p.P9L,ENST00000406381,,c.26C>T,MODERATE,,tolerated(0.73),benign(0),1;ERBB2,missense_variant,p.P39L,ENST00000269571,NM_001382787.1&NM_001382784.1&NM_001382786.1&NM_001382789.1&NM_001382788.1&NM_001382785.1&NM_004448.4&NM_001382796.1&NM_001382798.1&NM_001382800.1&NM_001382797.1&NM_001382805.1&NM_001382792.1&NM_001382793.1&NM_001382794.1&NM_001382795.1&NM_001382801.1&NM_001382790.1&NM_001382806.1&NM_001382802.1&NM_001382799.1&NM_001382791.1,c.116C>T,MODERATE,YES,tolerated(0.74),benign(0),1;ERBB2,missense_variant,p.P24L,ENST00000541774,NM_001289936.2&NM_001382783.1,c.71C>T,MODERATE,,tolerated(0.74),benign(0.006),1;ERBB2,missense_variant,p.P39L,ENST00000584450,NM_001289937.2&NM_001382803.1,c.116C>T,MODERATE,,tolerated(0.74),possibly_damaging(0.489),1;ERBB2,missense_variant,p.P9L,ENST00000578199,NM_001289938.2,c.26C>T,MODERATE,,tolerated(0.4),benign(0),1;ERBB2,missense_variant,p.P9L,ENST00000578709,,c.26C>T,MODERATE,,tolerated(0.55),benign(0),1;ERBB2,intron_variant,,ENST00000445658,NM_001382804.1,c.74-4896C>T,MODIFIER,,,,1;ERBB2,upstream_gene_variant,,ENST00000578502,,,MODIFIER,,,,1;ERBB2,non_coding_transcript_exon_variant,,ENST00000584099,,n.192C>T,MODIFIER,,,,1;ERBB2,missense_variant,p.P39L,ENST00000578373,,c.116C>T,MODERATE,,tolerated(1),benign(0.076),1;ERBB2,missense_variant,p.P39L,ENST00000582648,,c.116C>T,MODERATE,,tolerated(0.95),possibly_damaging(0.804),1;ERBB2,non_coding_transcript_exon_variant,,ENST00000582788,,n.281C>T,MODIFIER,,,,1;ERBB2,non_coding_transcript_exon_variant,,ENST00000584908,,n.128C>T,MODIFIER,,,,1;ERBB2,upstream_gene_variant,,ENST00000583038,,,MODIFIER,,,,1;ERBB2,upstream_gene_variant,,ENST00000583391,,,MODIFIER,,,,1","T","ENSG00000141736","ENST00000269571","Transcript","missense_variant","missense_variant","291/4557","116/3768","39/1255","P/L","cCc/cTc","COSV54064314",null,1,"ERBB2","HGNC","HGNC:3430","protein_coding","YES","CCDS32642.1","ENSP00000269571","P04626.253","X5DNK3.49","UPI000003F55F","P04626-1","NM_001382787.1;NM_001382784.1;NM_001382786.1;NM_001382789.1;NM_001382788.1;NM_001382785.1;NM_004448.4;NM_001382796.1;NM_001382798.1;NM_001382800.1;NM_001382797.1;NM_001382805.1;NM_001382792.1;NM_001382793.1;NM_001382794.1;NM_001382795.1;NM_001382801.1;NM_001382790.1;NM_001382806.1;NM_001382802.1;NM_001382799.1;NM_001382791.1","NM_004448.4","P1",null,"tolerated(0.74)","benign(0)","2024-02-27",null,"PDB-ENSP_mappings:1n8z.C;PDB-ENSP_mappings:1s78.A;PDB-ENSP_mappings:1s78.B;PDB-ENSP_mappings:2a91.A;Gene3D:3.80.20.20;PDB-ENSP_mappings:3be1.A;PDB-ENSP_mappings:3h3b.A;PDB-ENSP_mappings:3h3b.B;PDB-ENSP_mappings:3mzw.A;PDB-ENSP_mappings:3n85.A;PDB-ENSP_mappings:3wlw.A;PDB-ENSP_mappings:3wlw.B;PDB-ENSP_mappings:3wsq.A;PDB-ENSP_mappings:4hrl.C;PDB-ENSP_mappings:4hrm.A;PDB-ENSP_mappings:4hrm.C;PDB-ENSP_mappings:5k33.C;PDB-ENSP_mappings:5kwg.C;PDB-ENSP_mappings:5my6.A;PDB-ENSP_mappings:5o4g.C;PDB-ENSP_mappings:6att.A;PDB-ENSP_mappings:6bgt.C;PDB-ENSP_mappings:6j71.A;PDB-ENSP_mappings:6oge.A;PIRSF:PIRSF000619;PANTHER:PTHR24416;PANTHER:PTHR24416:SF137",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"CAGTCCCGAGA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4066004","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ERBB2",2064,"BI","GRCh38","chr17",39724745,39724745,"+","Missense_Mutation","SNP","G","G","T","rs144434331",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2327G>T","p.Gly776Val","p.G776V","ENST00000269571","20/27",79,19,60,92,null,null,"ERBB2,missense_variant,p.G746V,ENST00000584601,NM_001382782.1&NM_001005862.3,c.2237G>T,MODERATE,,deleterious(0.02),probably_damaging(0.973),1;ERBB2,missense_variant,p.G746V,ENST00000406381,,c.2237G>T,MODERATE,,deleterious(0.02),probably_damaging(0.973),1;ERBB2,missense_variant,p.G776V,ENST00000269571,NM_001382787.1&NM_001382784.1&NM_001382786.1&NM_001382789.1&NM_001382788.1&NM_001382785.1&NM_004448.4&NM_001382796.1&NM_001382798.1&NM_001382800.1&NM_001382797.1&NM_001382805.1&NM_001382792.1&NM_001382793.1&NM_001382794.1&NM_001382795.1&NM_001382801.1&NM_001382790.1&NM_001382806.1&NM_001382802.1&NM_001382799.1&NM_001382791.1,c.2327G>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.973),1;ERBB2,missense_variant,p.G761V,ENST00000541774,NM_001289936.2&NM_001382783.1,c.2282G>T,MODERATE,,deleterious(0.02),probably_damaging(0.996),1;ERBB2,missense_variant,p.G776V,ENST00000584450,NM_001289937.2&NM_001382803.1,c.2327G>T,MODERATE,,deleterious(0.01),probably_damaging(1),1;ERBB2,missense_variant,p.G500V,ENST00000445658,NM_001382804.1,c.1499G>T,MODERATE,,deleterious(0.01),probably_damaging(0.973),1;ERBB2,missense_variant,p.G145V,ENST00000580074,,c.434G>T,MODERATE,,deleterious(0),probably_damaging(1),1;MIEN1,downstream_gene_variant,,ENST00000394231,NM_032339.5,,MODIFIER,,,,-1;MIEN1,downstream_gene_variant,,ENST00000577810,NM_001330206.1,,MODIFIER,YES,,,-1;ERBB2,downstream_gene_variant,,ENST00000582818,,,MODIFIER,,,,1;MIR4728,upstream_gene_variant,,ENST00000580969,,,MODIFIER,YES,,,1;MIEN1,downstream_gene_variant,,ENST00000474210,,,MODIFIER,,,,-1;ERBB2,upstream_gene_variant,,ENST00000584888,,,MODIFIER,,,,1;ERBB2,3_prime_UTR_variant,,ENST00000578373,,c.*2117G>T,MODIFIER,,,,1;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,,n.3461G>T,MODIFIER,,,,1;MIEN1,downstream_gene_variant,,ENST00000469568,,,MODIFIER,,,,-1;MIEN1,downstream_gene_variant,,ENST00000498164,,,MODIFIER,,,,-1;ERBB2,downstream_gene_variant,,ENST00000578630,,,MODIFIER,,,,1;MIEN1,downstream_gene_variant,,ENST00000582963,,,MODIFIER,,,,-1;ERBB2,downstream_gene_variant,,ENST00000584684,,,MODIFIER,,,,1","T","ENSG00000141736","ENST00000269571","Transcript","missense_variant","missense_variant","2502/4557","2327/3768","776/1255","G/V","gGt/gTt","rs144434331;COSV54062853;COSV54063030",null,1,"ERBB2","HGNC","HGNC:3430","protein_coding","YES","CCDS32642.1","ENSP00000269571","P04626.253","X5DNK3.49","UPI000003F55F","P04626-1","NM_001382787.1;NM_001382784.1;NM_001382786.1;NM_001382789.1;NM_001382788.1;NM_001382785.1;NM_004448.4;NM_001382796.1;NM_001382798.1;NM_001382800.1;NM_001382797.1;NM_001382805.1;NM_001382792.1;NM_001382793.1;NM_001382794.1;NM_001382795.1;NM_001382801.1;NM_001382790.1;NM_001382806.1;NM_001382802.1;NM_001382799.1;NM_001382791.1","NM_004448.4","P1",null,"deleterious(0.02)","probably_damaging(0.973)","20/27",null,"Gene3D:3.30.200.20;PDB-ENSP_mappings:3pp0.A;PDB-ENSP_mappings:3pp0.B;PDB-ENSP_mappings:3rcd.A;PDB-ENSP_mappings:3rcd.B;PDB-ENSP_mappings:3rcd.C;PDB-ENSP_mappings:3rcd.D;Pfam:PF07714;PIRSF:PIRSF000619;PROSITE_profiles:PS50011;PANTHER:PTHR24416;PANTHER:PTHR24416:SF137;SMART:SM00219;Superfamily:SSF56112;Transmembrane_helices:TMhelix;CDD:cd05109",{"$nulls":32},"not_provided","0;1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1;1",1,"GGCTGGTGTGG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM18609","Y","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["INTS2",57508,"BI","GRCh38","chr17",61869082,61869082,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.3220C>G","p.Leu1074Val","p.L1074V","ENST00000444766","23/25",62,13,49,64,null,null,"INTS2,missense_variant,p.L1066V,ENST00000251334,NM_001351695.2,c.3196C>G,MODERATE,,deleterious(0),probably_damaging(0.994),-1;INTS2,missense_variant,p.L1074V,ENST00000444766,NM_020748.4,c.3220C>G,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;INTS2,missense_variant,p.L1066V,ENST00000647009,NM_001330417.2,c.3196C>G,MODERATE,,deleterious(0),probably_damaging(0.994),-1;INTS2,missense_variant,p.L1074V,ENST00000617492,,c.3220C>G,MODERATE,,deleterious(0),probably_damaging(0.994),-1;INTS2,3_prime_UTR_variant,,ENST00000646745,,c.*2717C>G,MODIFIER,,,,-1;INTS2,downstream_gene_variant,,ENST00000583822,,,MODIFIER,,,,-1","C","ENSG00000108506","ENST00000444766","Transcript","missense_variant","missense_variant","3296/5878","3220/3615","1074/1204","L/V","Ctt/Gtt","COSV52151145",null,-1,"INTS2","HGNC","HGNC:29241","protein_coding","YES","CCDS45750.1","ENSP00000414237","Q9H0H0.136",null,"UPI0000E5A03A",null,"NM_020748.4",null,"A2",null,"deleterious(0)","probably_damaging(0.994)","23/25",null,"Pfam:PF14750;PANTHER:PTHR28608",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"ACTAAGTGACT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4068424","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AATK",9625,"BI","GRCh38","chr17",81121978,81121978,"+","Missense_Mutation","SNP","G","G","A","rs762845072",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1958C>T","p.Ala653Val","p.A653V","ENST00000326724","2024-11-14",20,12,8,28,null,null,"AATK,missense_variant,p.A550V,ENST00000417379,NM_004920.2,c.1649C>T,MODERATE,,tolerated(0.24),benign(0.163),-1;AATK,missense_variant,p.A653V,ENST00000326724,NM_001080395.3,c.1958C>T,MODERATE,YES,tolerated(0.21),benign(0.163),-1;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.3,,MODIFIER,,,,1;AATK,downstream_gene_variant,,ENST00000572339,,,MODIFIER,,,,-1;AATK,downstream_gene_variant,,ENST00000650574,,,MODIFIER,,,,-1;MIR657,downstream_gene_variant,,ENST00000385003,,,MODIFIER,YES,,,-1;MIR3065,upstream_gene_variant,,ENST00000390137,,,MODIFIER,YES,,,1;MIR338,downstream_gene_variant,,ENST00000636369,,,MODIFIER,YES,,,-1;AATK,intron_variant,,ENST00000573469,,n.432-3656C>T,MODIFIER,,,,-1;AATK,downstream_gene_variant,,ENST00000573441,,,MODIFIER,,,,-1;AATK,missense_variant,p.A617V,ENST00000374792,,c.1850C>T,MODERATE,,tolerated_low_confidence(0.17),benign(0.187),-1;AATK,upstream_gene_variant,,ENST00000570932,,,MODIFIER,,,,-1;AATK,downstream_gene_variant,,ENST00000576053,,,MODIFIER,,,,-1","A","ENSG00000181409","ENST00000326724","Transcript","missense_variant","missense_variant","2187/5461","1958/4125","653/1374","A/V","gCg/gTg","rs762845072;COSV58364450",null,-1,"AATK","HGNC","HGNC:21","protein_coding","YES","CCDS45807.1","ENSP00000324196","Q6ZMQ8.140",null,"UPI000041EA63","Q6ZMQ8-1","NM_001080395.3","NM_001080395.3","P4",null,"tolerated(0.21)","benign(0.163)","2024-11-14",null,"PANTHER:PTHR24417;PANTHER:PTHR24417:SF0;Low_complexity_(Seg):seg",{"$nulls":8},"1.308e-05",0,"5.873e-05",0,0,0,"9.609e-06",0,0,"5.873e-05","gnomAD_AMR","6.757300070603378e-06",0,0,"6.621640204684809e-05",0,0,0,0,0,0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",5,null,"0;1",null,"GGGGCGCCCCT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4070594;COSM4070595","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LAMA1",284217,"BI","GRCh38","chr18",6977749,6977749,"+","Missense_Mutation","SNP","T","T","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.6323A>G","p.Gln2108Arg","p.Q2108R","ENST00000389658","44/63",29,10,19,41,null,null,"LAMA1,missense_variant,p.Q2108R,ENST00000389658,NM_005559.4,c.6323A>G,MODERATE,YES,tolerated(0.05),benign(0.299),-1;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,,n.7338A>G,MODIFIER,,,,-1","C","ENSG00000101680","ENST00000389658","Transcript","missense_variant","missense_variant","6400/9642","6323/9228","2108/3075","Q/R","cAg/cGg","COSV67532758",null,-1,"LAMA1","HGNC","HGNC:6481","protein_coding","YES","CCDS32787.1","ENSP00000374309","P25391.206",null,"UPI00001C1FF9",null,"NM_005559.4","NM_005559.4","P1",null,"tolerated(0.05)","benign(0.299)","44/63",null,"Coiled-coils_(Ncoils):Coil;Pfam:PF06009;PANTHER:PTHR10574;PANTHER:PTHR10574:SF291",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,1,"GGGCCTGGCTG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4073143","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ELOA2",51224,"BI","GRCh38","chr18",47033433,47033433,"+","Missense_Mutation","SNP","A","A","G","rs755404558",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1832T>C","p.Leu611Pro","p.L611P","ENST00000332567","2024-01-01",132,102,29,171,null,null,"ELOA2,missense_variant,p.L611P,ENST00000332567,NM_016427.2,c.1832T>C,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;KATNAL2,intron_variant,,ENST00000245121,NM_001353903.1&NM_031303.3,c.-94-19447A>G,MODIFIER,,,,1;KATNAL2,intron_variant,,ENST00000356157,NM_001353899.1&NM_001353900.1&NM_001353901.1&NM_001353902.1&NM_001367621.1,c.52-13024A>G,MODIFIER,YES,,,1;KATNAL2,intron_variant,,ENST00000585469,,c.-72-12958A>G,MODIFIER,,,,1;KATNAL2,intron_variant,,ENST00000592005,,c.52-41844A>G,MODIFIER,,,,1;ELOA3,upstream_gene_variant,,ENST00000674825,NM_145653.3,,MODIFIER,YES,,,-1","G","ENSG00000206181","ENST00000332567","Transcript","missense_variant","missense_variant","2189/3050","1832/2262","611/753","L/P","cTt/cCt","rs755404558;COSV55294215",null,-1,"ELOA2","HGNC","HGNC:30771","protein_coding","YES","CCDS11932.1","ENSP00000331302","Q8IYF1.156",null,"UPI0000140A82",null,"NM_016427.2",null,"P1",null,"deleterious(0)","probably_damaging(0.998)","2024-01-01",null,"Pfam:PF06881;PANTHER:PTHR15141;PANTHER:PTHR15141:SF7",{"$nulls":8},"3.98e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",null,null,"0;1",null,"CCGGAAGCCGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4072341","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CXXC1",30827,"BI","GRCh38","chr18",50286822,50286822,"+","Missense_Mutation","SNP","C","C","T","rs772822946",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.40G>A","p.Gly14Arg","p.G14R","ENST00000285106","2024-02-15",150,99,51,157,null,null,"CXXC1,missense_variant,p.G14R,ENST00000285106,NM_014593.3,c.40G>A,MODERATE,,tolerated_low_confidence(0.17),probably_damaging(0.992),-1;CXXC1,missense_variant,p.G14R,ENST00000673786,,c.40G>A,MODERATE,,tolerated_low_confidence(0.18),benign(0.101),-1;CXXC1,missense_variant,p.G14R,ENST00000589548,,c.40G>A,MODERATE,,tolerated_low_confidence(0.09),possibly_damaging(0.454),-1;CXXC1,missense_variant,p.G14R,ENST00000412036,NM_001101654.1,c.40G>A,MODERATE,YES,tolerated_low_confidence(0.17),probably_damaging(0.996),-1;CXXC1,missense_variant,p.G14R,ENST00000589940,,c.40G>A,MODERATE,,tolerated_low_confidence(0.08),probably_damaging(0.996),-1;CXXC1,missense_variant,p.G14R,ENST00000586837,,c.40G>A,MODERATE,,tolerated(0.12),probably_damaging(0.992),-1;CXXC1,missense_variant,p.G14R,ENST00000587396,,c.40G>A,MODERATE,,tolerated_low_confidence(0.52),probably_damaging(0.992),-1;CXXC1,intron_variant,,ENST00000591474,,c.3+765G>A,MODIFIER,,,,-1;CXXC1,non_coding_transcript_exon_variant,,ENST00000590901,,n.294G>A,MODIFIER,,,,-1;CXXC1,non_coding_transcript_exon_variant,,ENST00000586365,,n.152G>A,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000586144,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000586502,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000586568,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000587170,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000587342,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000590234,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000591190,,,MODIFIER,,,,-1;CXXC1,upstream_gene_variant,,ENST00000592078,,,MODIFIER,,,,-1","T","ENSG00000154832","ENST00000285106","Transcript","missense_variant","missense_variant","755/2936","40/1971","14/656","G/R","Ggg/Agg","rs772822946;COSV53273351",null,-1,"CXXC1","HGNC","HGNC:24343","protein_coding",null,"CCDS11945.1","ENSP00000285106","Q9P0U4.172",null,"UPI0000037D2E","Q9P0U4-1","NM_014593.3",null,"P1",null,"tolerated_low_confidence(0.17)","probably_damaging(0.992)","2024-02-15",null,"MobiDB_lite:mobidb-lite",{"$nulls":8},"3.977e-06",0,0,0,"5.437e-05",0,0,0,0,"5.437e-05","gnomAD_EAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"CTCCCCGGCAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4072480","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["DCC",1630,"BI","GRCh38","chr18",53459243,53459243,"+","Missense_Mutation","SNP","C","C","T","rs751325930",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.3404C>T","p.Thr1135Ile","p.T1135I","ENST00000442544","24/29",81,61,20,74,null,null,"DCC,missense_variant,p.T1135I,ENST00000442544,NM_005215.4,c.3404C>T,MODERATE,YES,tolerated(0.27),benign(0.101),1;DCC,missense_variant,p.T1112I,ENST00000412726,,c.3335C>T,MODERATE,,tolerated(0.32),possibly_damaging(0.747),1;DCC,missense_variant,p.T770I,ENST00000581580,,c.2309C>T,MODERATE,,tolerated(0.16),possibly_damaging(0.701),1","T","ENSG00000187323","ENST00000442544","Transcript","missense_variant","missense_variant","3995/10181","3404/4344","1135/1447","T/I","aCc/aTc","rs751325930;COSV71426914",null,1,"DCC","HGNC","HGNC:2701","protein_coding","YES","CCDS11952.1","ENSP00000389140","P43146.196",null,"UPI00001AEDC6",null,"NM_005215.4","NM_005215.4","P1",null,"tolerated(0.27)","benign(0.101)","24/29",null,"PANTHER:PTHR44170;PANTHER:PTHR44170:SF8;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.194e-05",0,"8.687e-05",0,0,0,0,0,0,"8.687e-05","gnomAD_AMR","6.76023000778514e-06",0,0,0,0,0,0,0,"1.543160033179447e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"GGCCACCCACA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4072557","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ADAMTSL5",339366,"BI","GRCh38","chr19",1508023,1508023,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.576C>G","p.Phe192Leu","p.F192L","ENST00000330475","2024-07-12",11,7,4,12,null,null,"ADAMTSL5,missense_variant,p.F192L,ENST00000330475,NM_213604.3&NM_001367197.1,c.576C>G,MODERATE,YES,tolerated(0.24),benign(0.003),-1;ADAMTSL5,missense_variant,p.F202L,ENST00000586272,,c.606C>G,MODERATE,,tolerated(0.71),benign(0.001),-1;PLK5,5_prime_UTR_variant,,ENST00000673796,,c.-828G>C,MODIFIER,,,,1;ADAMTSL5,5_prime_UTR_variant,,ENST00000395467,,c.-118C>G,MODIFIER,,,,-1;ADAMTSL5,downstream_gene_variant,,ENST00000585804,,,MODIFIER,,,,-1;ADAMTSL5,upstream_gene_variant,,ENST00000590090,,,MODIFIER,,,,-1;ADAMTSL5,downstream_gene_variant,,ENST00000590562,,,MODIFIER,,,,-1;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,,n.614C>G,MODIFIER,,,,-1;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,,n.654C>G,MODIFIER,,,,-1;ADAMTSL5,downstream_gene_variant,,ENST00000589839,,,MODIFIER,,,,-1;ADAMTSL5,upstream_gene_variant,,ENST00000591077,,,MODIFIER,,,,-1;ADAMTSL5,upstream_gene_variant,,ENST00000590682,,,MODIFIER,,,,-1;AC027307.1,upstream_gene_variant,,ENST00000590252,,,MODIFIER,YES,,,1","C","ENSG00000185761","ENST00000330475","Transcript","missense_variant","missense_variant","850/2683","576/1416","192/471","F/L","ttC/ttG","COSV57860151",null,-1,"ADAMTSL5","HGNC","HGNC:27912","protein_coding","YES","CCDS12071.1","ENSP00000327608",null,"X6R4H8.50","UPI00001D8216",null,"NM_213604.3;NM_001367197.1","NM_213604.3","P1",null,"tolerated(0.24)","benign(0.003)","2024-07-12",null,"Gene3D:2.60.120.830;PANTHER:PTHR13723;PANTHER:PTHR13723:SF173",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",2,null,1,null,"TGCACGAAAAG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4074902","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["OR2Z1",284383,"BI","GRCh38","chr19",8731062,8731062,"+","Missense_Mutation","SNP","T","T","A","rs1402400964",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.34T>A","p.Phe12Ile","p.F12I","ENST00000641125","2024-03-03",55,35,19,86,null,null,"OR2Z1,missense_variant,p.F12I,ENST00000641125,NM_001004699.2,c.34T>A,MODERATE,YES,deleterious(0),probably_damaging(0.967),1;RPL23AP78,upstream_gene_variant,,ENST00000599928,,,MODIFIER,YES,,,-1","A","ENSG00000181733","ENST00000641125","Transcript","missense_variant","missense_variant","657/1755","34/945","12/314","F/I","Ttc/Atc","rs1402400964;COSV60691763",null,1,"OR2Z1","HGNC","HGNC:15391","protein_coding","YES","CCDS32895.1","ENSP00000493322","Q8NG97.145","A0A126GVT8.28","UPI000003F225",null,"NM_001004699.2",null,"P1",null,"deleterious(0)","probably_damaging(0.967)","2024-03-03",null,"PANTHER:PTHR26453;PANTHER:PTHR26453:SF96;Superfamily:SSF81321",{"$nulls":19},"6.761049917258788e-06",0,0,0,0,0,0,0,"1.5435400200658478e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",null,null,"0;1",null,"CAGACTTCATT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4083128","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CALR3",125972,"BI","GRCh38","chr19",16479192,16479192,"+","Missense_Mutation","SNP","G","G","A","rs768015132",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1094C>T","p.Ser365Leu","p.S365L","ENST00000269881","2024-09-09",91,58,33,133,null,null,"CALR3,missense_variant,p.S365L,ENST00000269881,NM_145046.5,c.1094C>T,MODERATE,YES,tolerated(0.32),benign(0),-1;CALR3,downstream_gene_variant,,ENST00000600762,,,MODIFIER,,,,-1;CALR3,downstream_gene_variant,,ENST00000602234,,,MODIFIER,,,,-1;AC008764.1,3_prime_UTR_variant,,ENST00000409035,,c.*897C>T,MODIFIER,YES,,,-1","A","ENSG00000269058","ENST00000269881","Transcript","missense_variant","missense_variant","1132/1263","1094/1155","365/384","S/L","tCg/tTg","rs768015132;COSV54168273",null,-1,"CALR3","HGNC","HGNC:20407","protein_coding","YES","CCDS12344.1","ENSP00000269881","Q96L12.170","A0A140VJF7.23","UPI000013D85C",null,"NM_145046.5","NM_145046.5","P1",null,"tolerated(0.32)","benign(0)","2024-09-09",null,"Coiled-coils_(Ncoils):Coil;PANTHER:PTHR11073;PANTHER:PTHR11073:SF3;PIRSF:PIRSF002356",{"$nulls":8},"3.579e-05",0,0.0002024,0,0,0,"1.758e-05",0,0,0.0002024,"gnomAD_AMR","1.3540399777411949e-05",0,0,"6.650699651800096e-05",0,0,0,0,"1.5435900422744453e-05",0,0,{"$nulls":3},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",1,"TTCCCGACAGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4075156","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["PAK4",10298,"BI","GRCh38","chr19",39173991,39173991,"+","Missense_Mutation","SNP","G","G","A","rs777017835",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1079G>A","p.Arg360His","p.R360H","ENST00000358301","2024-04-09",15,7,8,12,null,null,"PAK4,missense_variant,p.R207H,ENST00000599386,NM_001014835.2,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.986),1;PAK4,missense_variant,p.R360H,ENST00000593690,NM_001014831.3,c.1079G>A,MODERATE,YES,deleterious(0),probably_damaging(0.98),1;PAK4,missense_variant,p.R360H,ENST00000360442,,c.1079G>A,MODERATE,,deleterious(0),probably_damaging(0.98),1;PAK4,missense_variant,p.R360H,ENST00000358301,NM_005884.4&NM_001014832.2,c.1079G>A,MODERATE,,deleterious(0),probably_damaging(0.98),1;PAK4,missense_variant,p.R270H,ENST00000321944,,c.809G>A,MODERATE,,deleterious(0),probably_damaging(0.974),1;PAK4,missense_variant,p.R207H,ENST00000599470,NM_001014834.3,c.620G>A,MODERATE,,deleterious(0),probably_damaging(0.986),1;PAK4,downstream_gene_variant,,ENST00000593480,,,MODIFIER,,,,1;PAK4,upstream_gene_variant,,ENST00000597715,,,MODIFIER,,,,1;PAK4,downstream_gene_variant,,ENST00000599657,,,MODIFIER,,,,1;PAK4,downstream_gene_variant,,ENST00000602004,,,MODIFIER,,,,1;PAK4,upstream_gene_variant,,ENST00000600350,,,MODIFIER,,,,1","A","ENSG00000130669","ENST00000358301","Transcript","missense_variant","missense_variant","1219/2739","1079/1776","360/591","R/H","cGc/cAc","rs777017835;COSV58943876",null,1,"PAK4","HGNC","HGNC:16059","protein_coding",null,"CCDS12528.1","ENSP00000351049","O96013.211","A0A024R0J1.54","UPI0000001281","O96013-1","NM_005884.4;NM_001014832.2",null,"P1",null,"deleterious(0)","probably_damaging(0.98)","2024-04-09",null,"PDB-ENSP_mappings:2bva.A;PDB-ENSP_mappings:2bva.B;PDB-ENSP_mappings:2cdz.A;PDB-ENSP_mappings:2j0i.A;PDB-ENSP_mappings:2q0n.A;PDB-ENSP_mappings:2x4z.A;PDB-ENSP_mappings:4app.A;PDB-ENSP_mappings:4fie.A;PDB-ENSP_mappings:4fie.B;PDB-ENSP_mappings:4fif.A;PDB-ENSP_mappings:4fif.B;PDB-ENSP_mappings:4fig.A;PDB-ENSP_mappings:4fig.B;PDB-ENSP_mappings:4fih.A;PDB-ENSP_mappings:4fii.A;PDB-ENSP_mappings:4fij.A;PDB-ENSP_mappings:4jdh.A;PDB-ENSP_mappings:4jdi.A;PDB-ENSP_mappings:4jdj.A;PDB-ENSP_mappings:4jdk.A;PDB-ENSP_mappings:4l67.A;PDB-ENSP_mappings:4njd.A;PDB-ENSP_mappings:4o0v.A;PDB-ENSP_mappings:4o0x.A;PDB-ENSP_mappings:4o0y.A;PDB-ENSP_mappings:4xbr.A;PDB-ENSP_mappings:4xbu.A;PDB-ENSP_mappings:5bms.A;PDB-ENSP_mappings:5i0b.A;PDB-ENSP_mappings:5upk.B;PDB-ENSP_mappings:5upl.A;PDB-ENSP_mappings:5ved.A;PDB-ENSP_mappings:5vee.A;PDB-ENSP_mappings:5vef.A;PDB-ENSP_mappings:5xva.A;PDB-ENSP_mappings:5xvf.A;PDB-ENSP_mappings:5xvg.A;PDB-ENSP_mappings:5zjw.A;PROSITE_profiles:PS50011;CDD:cd06657;PANTHER:PTHR45832;PANTHER:PTHR45832:SF9;Pfam:PF00069;Gene3D:3.30.200.20;Superfamily:SSF56112",{"$nulls":8},"1.361e-05","7.384e-05",0,0,"5.893e-05",0,"1.025e-05",0,0,"7.384e-05","gnomAD_AFR",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"GAGGCGCGAGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4077909","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZC3H4",23211,"BI","GRCh38","chr19",47094446,47094446,"+","Missense_Mutation","SNP","C","C","G",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.324G>C","p.Lys108Asn","p.K108N","ENST00000253048","2024-03-15",463,352,111,441,null,null,"ZC3H4,missense_variant,p.K108N,ENST00000253048,NM_015168.2,c.324G>C,MODERATE,YES,deleterious(0),benign(0.327),-1;ZC3H4,non_coding_transcript_exon_variant,,ENST00000594019,,n.245G>C,MODIFIER,,,,-1;ZC3H4,non_coding_transcript_exon_variant,,ENST00000597069,,n.325G>C,MODIFIER,,,,-1;ZC3H4,non_coding_transcript_exon_variant,,ENST00000595341,,n.42G>C,MODIFIER,,,,-1","G","ENSG00000130749","ENST00000253048","Transcript","missense_variant","missense_variant","386/6143","324/3912","108/1303","K/N","aaG/aaC","COSV53410800",null,-1,"ZC3H4","HGNC","HGNC:17808","protein_coding","YES","CCDS42582.1","ENSP00000253048","Q9UPT8.160",null,"UPI00001C2000",null,"NM_015168.2","NM_015168.2","P1",null,"deleterious(0)","benign(0.327)","2024-03-15",null,"PANTHER:PTHR13119;PANTHER:PTHR13119:SF33;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TCTTTCTTCCG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4079690","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["RCN3",57333,"BI","GRCh38","chr19",49528635,49528635,"+","Missense_Mutation","SNP","G","G","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.163G>A","p.Asp55Asn","p.D55N","ENST00000270645","2024-02-07",110,53,57,146,null,null,"RCN3,missense_variant,p.D55N,ENST00000270645,NM_020650.3,c.163G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),1;RCN3,missense_variant,p.D4N,ENST00000598833,,c.10G>A,MODERATE,,deleterious(0.02),probably_damaging(0.999),1;RCN3,missense_variant,p.D55N,ENST00000597801,,c.163G>A,MODERATE,,deleterious(0.03),probably_damaging(0.995),1;FCGRT,downstream_gene_variant,,ENST00000221466,NM_001136019.3,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000426395,NM_004107.5,,MODIFIER,YES,,,1;FCGRT,downstream_gene_variant,,ENST00000593381,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000596975,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598076,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000599988,,,MODIFIER,,,,1;RCN3,non_coding_transcript_exon_variant,,ENST00000593644,,n.92G>A,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000594823,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000452439,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000593431,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000595881,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000596147,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598319,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598927,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598936,,,MODIFIER,,,,1","A","ENSG00000142552","ENST00000270645","Transcript","missense_variant","missense_variant","225/1469","163/987","55/328","D/N","Gac/Aac","COSV54541242",null,1,"RCN3","HGNC","HGNC:21145","protein_coding","YES","CCDS12771.1","ENSP00000270645","Q96D15.153",null,"UPI000000D8C5",null,"NM_020650.3","NM_020650.3","P1",null,"deleterious(0)","probably_damaging(0.995)","2024-02-07",null,"CDD:cd16230;PANTHER:PTHR10827;PANTHER:PTHR10827:SF47;Gene3D:1.10.238.10;Superfamily:SSF47473",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"AGTACGACCAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4080076","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["VN1R2",317701,"BI","GRCh38","chr19",53259070,53259070,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.695C>A","p.Thr232Asn","p.T232N","ENST00000341702","2024-01-01",82,46,36,79,null,null,"VN1R2,missense_variant,p.T232N,ENST00000341702,NM_173856.2,c.695C>A,MODERATE,YES,deleterious(0.04),possibly_damaging(0.665),1;ZNF677,upstream_gene_variant,,ENST00000594517,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000594681,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000598513,NM_182609.3&NM_001317998.1,,MODIFIER,YES,,,-1;ZNF677,upstream_gene_variant,,ENST00000598806,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000599012,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000601413,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000601828,,,MODIFIER,,,,-1;ZNF677,upstream_gene_variant,,ENST00000595293,,,MODIFIER,,,,-1;VN1R2,upstream_gene_variant,,ENST00000598458,,,MODIFIER,,,,1","A","ENSG00000196131","ENST00000341702","Transcript","missense_variant","missense_variant","779/1311","695/1188","232/395","T/N","aCt/aAt","COSV59037247",null,1,"VN1R2","HGNC","HGNC:19872","protein_coding","YES","CCDS12862.1","ENSP00000351244","Q8NFZ6.124",null,"UPI0000062046",null,"NM_173856.2","NM_173856.2","P1",null,"deleterious(0.04)","possibly_damaging(0.665)","2024-01-01",null,"Superfamily:SSF81321;Gene3D:1.20.1070.10;Pfam:PF03402;PANTHER:PTHR24062;PANTHER:PTHR24062:SF80;CDD:cd13949;PROSITE_profiles:PS50262",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"TACAACTGGCA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4081022","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["CNOT3",4849,"BI","GRCh38","chr19",54155350,54155352,"+","In_Frame_Del","DEL","GAA","GAA","-","novel",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.2209_2211del","p.Lys737del","p.K737del","ENST00000221232","18/18",22,12,10,30,null,null,"CNOT3,inframe_deletion,p.K737del,ENST00000358389,,c.2209_2211del,MODERATE,YES,,,1;CNOT3,inframe_deletion,p.K737del,ENST00000221232,NM_014516.4,c.2209_2211del,MODERATE,,,,1;CNOT3,inframe_deletion,p.K72del,ENST00000471126,,c.214_216del,MODERATE,,,,1;CNOT3,3_prime_UTR_variant,,ENST00000617930,,c.*1603_*1605del,MODIFIER,,,,1;CNOT3,3_prime_UTR_variant,,ENST00000447684,,c.*381_*383del,MODIFIER,,,,1;LENG1,3_prime_UTR_variant,,ENST00000222224,NM_024316.3,c.*369_*371del,MODIFIER,YES,,,-1;CNOT3,downstream_gene_variant,,ENST00000457463,,,MODIFIER,,,,1;TMC4,downstream_gene_variant,,ENST00000617472,NM_001145303.3,,MODIFIER,YES,,,-1;TMC4,downstream_gene_variant,,ENST00000619895,NM_144686.4,,MODIFIER,,,,-1;CNOT3,3_prime_UTR_variant,,ENST00000613073,,c.*2132_*2134del,MODIFIER,,,,1;CNOT3,3_prime_UTR_variant,,ENST00000496327,,c.*381_*383del,MODIFIER,,,,1;CNOT3,3_prime_UTR_variant,,ENST00000647082,,c.*135_*137del,MODIFIER,,,,1;CNOT3,non_coding_transcript_exon_variant,,ENST00000618939,,n.4211_4213del,MODIFIER,,,,1;TMC4,downstream_gene_variant,,ENST00000611183,,,MODIFIER,,,,-1;TMC4,downstream_gene_variant,,ENST00000613723,,,MODIFIER,,,,-1;TMC4,downstream_gene_variant,,ENST00000615945,,,MODIFIER,,,,-1;CNOT3,downstream_gene_variant,,ENST00000644707,,,MODIFIER,,,,1","-","ENSG00000088038","ENST00000221232","Transcript","inframe_deletion","inframe_deletion","2487-2489/2818","2205-2207/2262","735-736/753","RK/R","cgGAAg/cgg",null,null,1,"CNOT3","HGNC","HGNC:7879","protein_coding",null,"CCDS12880.1","ENSP00000221232","O75175.172","A0A024R4R3.49","UPI00000729AD",null,"NM_014516.4","NM_014516.4","P1",{"$nulls":3},"18/18",null,"Gene3D:2.30.30.1020;PDB-ENSP_mappings:4c0d.C;PDB-ENSP_mappings:4c0g.A;PDB-ENSP_mappings:4c0g.B;PDB-ENSP_mappings:4c0g.C;PDB-ENSP_mappings:4c0g.D;PDB-ENSP_mappings:4c0g.E;PDB-ENSP_mappings:4c0g.F;PDB-ENSP_mappings:5fu6.C;PDB-ENSP_mappings:5fu6.F;PDB-ENSP_mappings:5fu7.C;PDB-ENSP_mappings:5fu7.G;Pfam:PF04153;PIRSF:PIRSF005290;PANTHER:PTHR23326;PANTHER:PTHR23326:SF1",{"$nulls":41},"MODERATE",null,"deletion",1,4,null,1,"CCAGCGGAAGAAGG","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,null,"N","Unknown",{"$nulls":3},"pindel;varscan2"]
["ZNF71",58491,"BI","GRCh38","chr19",56621846,56621846,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.559G>T","p.Ala187Ser","p.A187S","ENST00000328070","2024-03-03",60,26,34,72,null,null,"ZNF71,missense_variant,p.A187S,ENST00000328070,NM_021216.4&NM_001370214.1,c.559G>T,MODERATE,,tolerated(0.06),benign(0.026),1;ZNF71,missense_variant,p.A247S,ENST00000599599,NM_001370215.1,c.739G>T,MODERATE,YES,deleterious(0.03),benign(0.061),1;ZIM2-AS1,intron_variant,,ENST00000650950,,n.201+20255G>T,MODIFIER,YES,,,1","T","ENSG00000197951","ENST00000328070","Transcript","missense_variant","missense_variant","793/5428","559/1470","187/489","A/S","Gcc/Tcc","COSV60146683",null,1,"ZNF71","HGNC","HGNC:13141","protein_coding",null,"CCDS12947.1","ENSP00000328245","Q9NQZ8.166",null,"UPI00000437FA",null,"NM_021216.4;NM_001370214.1",{"$nulls":3},"tolerated(0.06)","benign(0.026)","2024-03-03",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_profiles:PS50157;PANTHER:PTHR24384;PANTHER:PTHR24384;PANTHER:PTHR24384:SF213;PANTHER:PTHR24384:SF213;SMART:SM00355;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",1,null,1,null,"CCTATGCCTGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4081860","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["ZNF329",79673,"BI","GRCh38","chr19",58128551,58128551,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.953A>C","p.Asn318Thr","p.N318T","ENST00000358067","2024-02-02",130,88,41,119,null,null,"ZNF329,missense_variant,p.N318T,ENST00000597186,,c.953A>C,MODERATE,YES,deleterious(0.03),possibly_damaging(0.871),-1;ZNF329,missense_variant,p.N318T,ENST00000598312,NM_024620.4,c.953A>C,MODERATE,,deleterious(0.03),possibly_damaging(0.871),-1;ZNF329,missense_variant,p.N318T,ENST00000358067,,c.953A>C,MODERATE,,deleterious(0.03),possibly_damaging(0.871),-1;ZNF329,downstream_gene_variant,,ENST00000601887,,,MODIFIER,,,,-1;ZNF329,missense_variant,p.N318T,ENST00000500161,,c.953A>C,MODERATE,,deleterious(0.03),possibly_damaging(0.871),-1","G","ENSG00000181894","ENST00000358067","Transcript","missense_variant","missense_variant","1069/3290","953/1626","318/541","N/T","aAc/aCc","COSV63771767",null,-1,"ZNF329","HGNC","HGNC:14209","protein_coding",null,"CCDS12972.1","ENSP00000350773","Q86UD4.148","A0A024R4Q4.45","UPI0000246E79",{"$nulls":3},"P1",null,"deleterious(0.03)","possibly_damaging(0.871)","2024-02-02",null,"Gene3D:3.30.160.60;Pfam:PF00096;PROSITE_patterns:PS00028;PROSITE_profiles:PS50157;PANTHER:PTHR24381;PANTHER:PTHR24381:SF118;SMART:SM00355;Superfamily:SSF57667;Superfamily:SSF57667",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",2,null,1,null,"ATTCGTTACAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4082341","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["LZTS3",9762,"BI","GRCh38","chr20",3166243,3166243,"+","Missense_Mutation","SNP","G","G","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.577C>G","p.Pro193Ala","p.P193A","ENST00000329152","2024-02-03",30,23,7,26,null,null,"LZTS3,missense_variant,p.P193A,ENST00000329152,,c.577C>G,MODERATE,YES,tolerated(0.16),benign(0.189),-1;LZTS3,missense_variant,p.P193A,ENST00000337576,NM_001367609.1&NM_001365618.1,c.577C>G,MODERATE,,tolerated(0.16),benign(0.189),-1;LZTS3,missense_variant,p.P193A,ENST00000360342,NM_001282533.2,c.577C>G,MODERATE,,tolerated(0.29),benign(0.348),-1;LZTS3,missense_variant,p.P193A,ENST00000645462,,c.577C>G,MODERATE,,tolerated(0.29),benign(0.348),-1","C","ENSG00000088899","ENST00000329152","Transcript","missense_variant","missense_variant","1975/5257","577/2022","193/673","P/A","Cct/Gct","COSV61277081;COSV61277875",null,-1,"LZTS3","HGNC","HGNC:30139","protein_coding","YES",null,"ENSP00000332123","O60299.148",null,"UPI0000139A8C","O60299-1",null,null,"P1",null,"tolerated(0.16)","benign(0.189)","2024-02-03",null,"PANTHER:PTHR19354;PANTHER:PTHR19354:SF6;MobiDB_lite:mobidb-lite;Low_complexity_(Seg):seg",{"$nulls":33},"1;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"1;1",null,"ACCAGGGCCCT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4097620","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SHLD1",149840,"BI","GRCh38","chr20",5863305,5863305,"+","Missense_Mutation","SNP","C","C","T","rs140278441",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.460C>T","p.Arg154Trp","p.R154W","ENST00000303142","2024-03-03",78,58,19,82,null,null,"SHLD1,missense_variant,p.R154W,ENST00000303142,NM_001303477.1&NM_001303478.1&NM_152504.4,c.460C>T,MODERATE,YES,deleterious(0.01),benign(0.029),1;SHLD1,downstream_gene_variant,,ENST00000442185,,,MODIFIER,,,,1;SHLD1,downstream_gene_variant,,ENST00000445603,,,MODIFIER,,,,1","T","ENSG00000171984","ENST00000303142","Transcript","missense_variant","missense_variant","543/1633","460/618","154/205","R/W","Cgg/Tgg","rs140278441",null,1,"SHLD1","HGNC","HGNC:26318","protein_coding","YES","CCDS13091.1","ENSP00000305875","Q8IYI0.112",null,"UPI0000074251","Q8IYI0-1","NM_001303477.1;NM_001303478.1;NM_152504.4","NM_152504.4","P1",null,"deleterious(0.01)","benign(0.029)","2024-03-03",null,"Pfam:PF15021;PANTHER:PTHR36863",{"$nulls":6},0.0004539,0,"2.787e-05",0.0001234,"5.783e-05",0,0,0,"8.807e-06",0.0003263,0,0.0004539,"AA","3.379660120117478e-05","7.295009709196165e-05",0,0,0,0,0,0,"1.5429699487867765e-05",0,0.000208419995033182,"7.295009709196165e-05","afr",{"$nulls":9},"MODERATE",1,"SNV",1,{"$nulls":3},"TCAACCGGGAC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM3740203","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["KCNG1",3755,"BI","GRCh38","chr20",51009870,51009870,"+","Missense_Mutation","SNP","C","C","T","rs944101242",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.469G>A","p.Ala157Thr","p.A157T","ENST00000371571","2024-02-03",103,69,34,99,null,null,"KCNG1,missense_variant,p.A157T,ENST00000371571,NM_002237.4,c.469G>A,MODERATE,YES,deleterious(0),benign(0.22),-1;KCNG1,missense_variant,p.A157T,ENST00000439216,,c.469G>A,MODERATE,,deleterious(0.04),benign(0.22),-1;KCNG1,missense_variant,p.A157T,ENST00000424171,,c.469G>A,MODERATE,,deleterious(0.01),benign(0.22),-1;KCNG1,downstream_gene_variant,,ENST00000433903,,,MODIFIER,,,,-1;KCNG1,downstream_gene_variant,,ENST00000447736,,,MODIFIER,,,,-1;KCNG1,upstream_gene_variant,,ENST00000506387,,,MODIFIER,,,,-1;AL050404.1,non_coding_transcript_exon_variant,,ENST00000424566,,n.653C>T,MODIFIER,YES,,,1","T","ENSG00000026559","ENST00000371571","Transcript","missense_variant","missense_variant","733/2189","469/1542","157/513","A/T","Gcg/Acg","rs944101242;COSV65368054",null,-1,"KCNG1","HGNC","HGNC:6248","protein_coding","YES","CCDS13436.1","ENSP00000360626","Q9UIX4.169",null,"UPI000012DC99","Q9UIX4-1","NM_002237.4","NM_002237.4","P1",null,"deleterious(0)","benign(0.22)","2024-02-03",null,"Gene3D:3.30.710.10;Pfam:PF02214;Prints:PR01492;PANTHER:PTHR11537;PANTHER:PTHR11537:SF88;SMART:SM00225;Superfamily:SSF54695;CDD:cd18421",{"$nulls":33},"0;1",{"$nulls":7},"MODERATE",1,"SNV",1,null,"0;1",null,"CTCCGCGATGC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4099380;COSM4099381","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["TOM1",10043,"BI","GRCh38","chr22",35347078,35347078,"+","Missense_Mutation","SNP","C","C","T","rs776007349",null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1348C>T","p.Arg450Trp","p.R450W","ENST00000449058","15/15",59,17,41,95,null,null,"TOM1,missense_variant,p.R451W,ENST00000411850,NM_001135732.1,c.1351C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;TOM1,missense_variant,p.R418W,ENST00000447733,NM_001135729.1,c.1252C>T,MODERATE,,deleterious(0),probably_damaging(1),1;TOM1,missense_variant,p.R450W,ENST00000449058,NM_005488.3,c.1348C>T,MODERATE,,deleterious(0),probably_damaging(1),1;TOM1,missense_variant,p.R405W,ENST00000425375,NM_001135730.1,c.1213C>T,MODERATE,,deleterious(0),benign(0.03),1;TOM1,intron_variant,,ENST00000382034,,c.*177-461C>T,MODIFIER,,,,1;TOM1,3_prime_UTR_variant,,ENST00000404284,,c.*1444C>T,MODIFIER,,,,1;TOM1,3_prime_UTR_variant,,ENST00000424387,,c.*1185C>T,MODIFIER,,,,1;TOM1,non_coding_transcript_exon_variant,,ENST00000492723,,n.1663C>T,MODIFIER,,,,1","T","ENSG00000100284","ENST00000449058","Transcript","missense_variant","missense_variant","1383/2278","1348/1479","450/492","R/W","Cgg/Tgg","rs776007349;COSV65897461",null,1,"TOM1","HGNC","HGNC:11982","protein_coding",null,"CCDS13913.1","ENSP00000394466","O60784.185",null,"UPI0000137118","O60784-1","NM_005488.3","NM_005488.3","P3",null,"deleterious(0)","probably_damaging(1)","15/15",null,"PDB-ENSP_mappings:6j56.C;PDB-ENSP_mappings:6j56.D;PIRSF:PIRSF036948;PANTHER:PTHR13856;PANTHER:PTHR13856:SF32;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite",{"$nulls":8},"1.201e-05",0,"2.914e-05",0,0,0,"8.847e-06",0,"3.283e-05","3.283e-05","gnomAD_SAS",{"$nulls":14},"0;1",{"$nulls":7},"MODERATE",null,"SNV",1,null,"0;1",null,"AAGAACGGGCC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4103755;COSM4103756","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SCML2",10389,"BI","GRCh38","chrX",18334062,18334062,"+","Missense_Mutation","SNP","T","T","G",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.10A>C","p.Thr4Pro","p.T4P","ENST00000251900","2024-02-15",17,2,15,44,null,null,"SCML2,missense_variant,p.T4P,ENST00000251900,NM_006089.3,c.10A>C,MODERATE,YES,deleterious(0.05),possibly_damaging(0.852),-1","G","ENSG00000102098","ENST00000251900","Transcript","missense_variant","missense_variant","131/4162","10/2103","4/700","T/P","Aca/Cca","COSV52618780",null,-1,"SCML2","HGNC","HGNC:10581","protein_coding","YES","CCDS14185.1","ENSP00000251900","Q9UQR0.171",null,"UPI0000071E54","Q9UQR0-1","NM_006089.3","NM_006089.3","P1",null,"deleterious(0.05)","possibly_damaging(0.852)","2024-02-15",null,"PDB-ENSP_mappings:2biv.A;PDB-ENSP_mappings:2biv.B;PDB-ENSP_mappings:2biv.C;MobiDB_lite:mobidb-lite;PANTHER:PTHR12247;PANTHER:PTHR12247:SF84",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"CACTGTTTGTC","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4108457","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["MAGEB4",4115,"BI","GRCh38","chrX",30243151,30243151,"+","Missense_Mutation","SNP","C","C","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.1016C>T","p.Ser339Phe","p.S339F","ENST00000378982","2024-01-01",22,3,19,37,null,null,"MAGEB4,missense_variant,p.S339F,ENST00000378982,NM_002367.4,c.1016C>T,MODERATE,YES,tolerated(0.21),benign(0.007),1;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.5,,MODIFIER,YES,,,1;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.3,,MODIFIER,,,,1;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2,,MODIFIER,,,,1","T","ENSG00000120289","ENST00000378982","Transcript","missense_variant","missense_variant","1152/2188","1016/1041","339/346","S/F","tCc/tTc","COSV66775262",null,1,"MAGEB4","HGNC","HGNC:6811","protein_coding","YES","CCDS14221.1","ENSP00000368266","O15481.136",null,"UPI000012F055",null,"NM_002367.4","NM_002367.4","P1",null,"tolerated(0.21)","benign(0.007)","2024-01-01",null,"Low_complexity_(Seg):seg;MobiDB_lite:mobidb-lite;MobiDB_lite:mobidb-lite;PANTHER:PTHR11736:SF75;PANTHER:PTHR11736",{"$nulls":33},1,{"$nulls":7},"MODERATE",null,"SNV",null,null,1,null,"CACATCCAGTA","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4108911","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["NRK",203447,"BI","GRCh38","chrX",105946459,105946459,"+","Missense_Mutation","SNP","A","A","C",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.4348A>C","p.Lys1450Gln","p.K1450Q","ENST00000243300","26/29",87,13,74,57,null,null,"NRK,missense_variant,p.K1450Q,ENST00000243300,NM_198465.4,c.4348A>C,MODERATE,YES,deleterious(0.02),benign(0.033),1;NRK,upstream_gene_variant,,ENST00000540278,,,MODIFIER,,,,1","C","ENSG00000123572","ENST00000243300","Transcript","missense_variant","missense_variant","4655/8066","4348/4749","1450/1582","K/Q","Aag/Cag","COSV54590765",null,1,"NRK","HGNC","HGNC:25391","protein_coding","YES","CCDS65305.1","ENSP00000434830","Q7Z2Y5.140",null,"UPI0000418886","Q7Z2Y5-1","NM_198465.4","NM_198465.4","P1",null,"deleterious(0.02)","benign(0.033)","26/29",null,"PROSITE_profiles:PS50219;Pfam:PF00780;SMART:SM00036",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"TGCCAAAGAAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4105594","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["SPANXN3",139067,"BI","GRCh38","chrX",143509027,143509027,"+","Missense_Mutation","SNP","G","G","T",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.214C>A","p.Gln72Lys","p.Q72K","ENST00000370503","2024-02-02",235,22,213,120,null,null,"SPANXN3,missense_variant,p.Q72K,ENST00000370503,NM_001009609.4,c.214C>A,MODERATE,YES,deleterious(0.03),benign(0.104),-1;AC239727.1,intron_variant,,ENST00000431432,,n.269-582G>T,MODIFIER,YES,,,1","T","ENSG00000189252","ENST00000370503","Transcript","missense_variant","missense_variant","298/590","214/426","72/141","Q/K","Cag/Aag","COSV65140037",null,-1,"SPANXN3","HGNC","HGNC:33176","protein_coding","YES","CCDS35418.1","ENSP00000359534","Q5MJ09.105",null,"UPI0000DA7993",null,"NM_001009609.4","NM_001009609.4","P1",null,"deleterious(0.03)","benign(0.104)","2024-02-02",null,"MobiDB_lite:mobidb-lite;PANTHER:PTHR23425;PANTHER:PTHR23425:SF5;Pfam:PF07458",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",1,null,1,null,"GGACTGTTCAT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4107214","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]
["AFF2",2334,"BI","GRCh38","chrX",148662315,148662315,"+","Missense_Mutation","SNP","C","C","A",null,null,"TCGA-IN-8663","TCGA-IN-8663-10A-01D-2394-08",{"$nulls":8},"Somatic",{"$nulls":6},"2d623764-e721-4047-95f9-0dd043773c44","4a5a7732-c13b-4cc3-8243-02024427c433","c.588C>A","p.Phe196Leu","p.F196L","ENST00000370460","2024-03-21",303,16,287,135,null,null,"AFF2,missense_variant,p.F196L,ENST00000370460,NM_002025.4&NM_001169123.2,c.588C>A,MODERATE,YES,tolerated(1),benign(0.001),1;AFF2,missense_variant,p.F192L,ENST00000342251,NM_001169122.2,c.576C>A,MODERATE,,tolerated(1),benign(0),1;AFF2,missense_variant,p.F196L,ENST00000370457,NM_001169124.2&NM_001169125.2,c.588C>A,MODERATE,,tolerated(1),benign(0),1;AFF2,missense_variant,p.F192L,ENST00000370458,,c.576C>A,MODERATE,,tolerated(1),benign(0),1","A","ENSG00000155966","ENST00000370460","Transcript","missense_variant","missense_variant","1069/13748","588/3936","196/1311","F/L","ttC/ttA","COSV60655918",null,1,"AFF2","HGNC","HGNC:3776","protein_coding","YES","CCDS14684.1","ENSP00000359489","P51816.159",null,"UPI000049E130","P51816-1","NM_002025.4;NM_001169123.2","NM_002025.4","P1",null,"tolerated(1)","benign(0.001)","2024-03-21",null,"PANTHER:PTHR10528;PANTHER:PTHR10528:SF18;Pfam:PF05110",{"$nulls":33},1,{"$nulls":7},"MODERATE",1,"SNV",5,null,1,1,"GACTTCTTTGT","a1259ab4-477f-4a51-9b7d-ee00e113bdb8","c9bba10c-47be-461a-9e1b-65b77f1c9081","d5550422-dc4b-4ebf-acb5-aa5243fff49f",null,"COSM4107296;COSM4107297","N","Unknown",{"$nulls":3},"muse;mutect2;varscan2"]

{"sheet":"table S14 ","index":13,"n_rows":451,"n_cols":15,"rows_kept":451,"merged":[[0,0,0,14]],"flags":["strings_cut"]}
[]
[]
[{"$nulls":4},"IFNG"]
["TCGA-FP-7998-01A-11R-2203-13",false,false,0.24,2028.35,0,473.83,79.75,86.21,true,0.24,-0.01,0,0.01,-0.04]
["TCGA-D7-6522-01A-11R-1802-13",false,false,0.23,775.98,0,298.5,3.37,21.8,true,0.23,0.28,0,0.04,0]
["TCGA-VQ-A8PQ-01A-11R-A414-31",false,false,0.21,694.96,0,230.3,7,31.15,true,0.21,0.32,0,0.05,-0.01]
["TCGA-BR-6706-01A-11R-1884-13",false,false,0.19,691.15,0,314.43,239.1,42.64,true,0.19,0.05,0,0.01,-0.03]
["TCGA-CD-5803-01A-11R-1602-13",false,false,0.17,812.66,0,340.27,7.55,53,true,0.17,0.98,0.02,0.15,-0.02]
["TCGA-BR-6564-11A-01R-1884-13",false,false,0.17,395.62,1,148.73,3.51,8.96,true,0.17,-0.03,0,0,-0.01]
["TCGA-CG-5734-01A-11R-1602-13",false,false,0.14,276.23,0,123.77,3.42,4.7,true,0.14,-0.01,0,0,-0.01]
["TCGA-HU-A4GJ-01A-11R-A251-31",false,false,0.14,496.34,0,142.88,2.89,25.71,true,0.14,-0.02,0,0,0]
["TCGA-CD-8531-01A-11R-2343-13",false,false,0.13,2115.45,1,344.16,1.76,2.07,true,0.13,0.09,0,0,0.01]
["TCGA-BR-6852-01A-11R-1884-13",false,false,0.13,1008.73,1,370.28,21.87,53.97,true,0.13,0.06,0,0.01,-0.04]
["TCGA-BR-6454-11A-01R-1802-13",false,false,0.13,185.83,1,93.39,1.78,7.02,true,0.13,-0.05,0,0,-0.01]
["TCGA-FP-8209-01A-11R-2343-13",false,false,0.13,437.76,0,158.29,4.81,36.05,true,0.13,1.04,0.01,0.14,0]
["TCGA-BR-7704-11A-01R-2055-13",false,false,0.13,209.38,1,105.25,3.03,13.23,true,0.13,0.46,0,0.08,-0.02]
["TCGA-CG-5728-11A-01R-1602-13",false,false,0.13,212.95,0,95.84,1.68,8.75,true,0.13,-0.06,0,-0.01,0]
["TCGA-BR-6457-11A-01R-1802-13",false,false,0.13,283.93,1,99.22,1.01,11.87,true,0.13,-0.04,0,0,0]
["TCGA-MX-A5UG-01A-21R-A31P-31",false,false,0.13,404.41,0,136.14,6.16,13.02,true,0.13,0.4,0,0.06,-0.01]
["TCGA-BR-7715-11A-01R-2055-13",false,false,0.12,554.23,1,143.84,3.19,17.96,true,0.12,-0.03,0,0,0]
["TCGA-BR-6564-01A-12R-1884-13",false,false,0.12,324.64,0,149.73,1.92,8.27,true,0.12,0.79,0.02,0.1,0]
["TCGA-BR-7717-11A-01R-2055-13",false,false,0.12,582.75,1,136.58,3.12,15.2,true,0.12,0,0,0,0]
["TCGA-CG-5720-11A-01R-1602-13",false,false,0.12,277.11,1,104.57,1.09,4.95,true,0.12,-0.06,0,-0.01,-0.01]
["TCGA-FP-8210-01A-11R-2343-13",false,false,0.11,487.06,0,141.45,4.34,29.3,true,0.11,0.77,0.01,0.11,0]
["TCGA-BR-6457-01A-21R-1802-13",false,false,0.11,310.07,0,145.12,1.28,9.05,true,0.11,0.37,0,0.05,0]
["TCGA-BR-6852-11A-01R-1884-13",false,false,0.11,307.51,1,99.37,1.75,8.08,true,0.11,-0.05,0,-0.01,0]
["TCGA-BR-7703-11A-01R-2055-13",false,false,0.11,248.65,1,88.3,1.52,9.63,true,0.11,-0.07,0,-0.01,0]
["TCGA-BR-6705-01A-12R-1884-13",false,false,0.1,156.31,0,104.39,2.13,6.06,true,0.1,1.47,0.03,0.2,0]
["TCGA-CG-5721-11A-01R-1602-13",false,false,0.1,169.11,0.18,80.89,0.91,10.13,true,0.1,-0.07,0,-0.01,0]
["TCGA-CG-5733-11A-01R-1602-13",false,false,0.1,153.05,0,73.89,0.82,7.22,true,0.1,-0.07,0,-0.01,0]
["TCGA-CG-5722-11A-02R-1602-13",false,false,0.09,231.16,1,120.86,1.56,16.54,true,0.09,-0.05,0,0,-0.01]
["TCGA-BR-6563-01A-13R-2055-13",false,false,0.09,461.78,0,170.32,2.08,22.01,true,0.09,0.25,0.01,0.03,0]
["TCGA-D7-6518-01A-11R-1802-13",false,false,0.09,183.21,0,89.5,2.1,1.99,true,0.09,0.17,0,0.02,0]
["TCGA-CG-5716-01A-21R-1802-13",false,false,0.09,127.36,1,63.3,1.26,3.94,true,0.09,-0.04,0,-0.01,0]
["TCGA-BR-6802-01A-11R-1884-13",false,false,0.09,974.81,1,362.26,25.24,22.91,true,0.09,0.24,0.03,0.03,-0.03]
["TCGA-BR-6803-01A-11R-1884-13",false,false,0.09,312.79,0,118.73,1.45,12.95,true,0.09,0.46,0.01,0.06,0.01]
["TCGA-CD-5813-01A-11R-1602-13",false,false,0.09,384.13,0,176.24,2.43,16.88,true,0.09,0.35,0,0.05,0]
["TCGA-VQ-A8PF-01A-11R-A414-31",false,false,0.09,1232.9,0,374.47,8.81,36.4,true,0.09,-0.01,0,0.01,-0.02]
["TCGA-CG-5721-01A-11R-1602-13",false,false,0.09,1343.43,1,428.21,27.7,40.48,true,0.09,0.22,0.02,0.03,-0.03]
["TCGA-RD-A8N0-01A-12R-A36D-31",false,false,0.09,363.61,0,100.31,3.64,18.66,true,0.09,-0.02,0,0,0]
["TCGA-BR-6458-11A-01R-1802-13",false,false,0.08,163.43,1,73.82,1.28,8.66,true,0.08,-0.06,0,-0.01,0]
["TCGA-D7-8574-01A-13R-2343-13",false,false,0.08,410.75,0,124,2.59,28.65,true,0.08,0.3,0,0.04,0]
["TCGA-CD-8532-01A-11R-2343-13",false,false,0.08,533.9,0,154.54,3.99,21.11,true,0.08,0.01,0,0.01,-0.02]
["TCGA-HU-8608-01A-11R-2402-13",false,false,0.08,1812.36,0,466.59,532.28,50.4,true,0.08,-0.03,0,0.01,-0.04]
["TCGA-BR-8366-01A-11R-2343-13",false,false,0.08,871.25,0,289.02,28.28,31.12,true,0.08,0.13,0,0.02,-0.02]
["TCGA-CD-8529-01A-11R-2343-13",false,false,0.08,581.61,0,194.94,3.95,11.69,true,0.08,0.06,0,0.02,-0.02]
["TCGA-BR-7716-11A-01R-2055-13",false,false,0.08,306.85,1,128.19,2.45,16.02,true,0.08,-0.04,0,0,-0.01]
["TCGA-HU-A4GY-01A-21R-A24K-31",false,false,0.08,600.02,0,179.49,4.87,19.19,true,0.08,0.59,-0.01,0.09,0]
["TCGA-BR-6453-01A-11R-1802-13",false,false,0.08,524.86,0,156.25,1.45,10.46,true,0.08,0.23,0.01,0.03,0]
["TCGA-BR-A4IY-01A-11R-A251-31",false,false,0.08,555.33,0,169.51,18.15,12.49,true,0.08,0.31,0.01,0.05,-0.02]
["TCGA-CG-5734-11A-01R-1602-13",false,false,0.07,152.57,1,60.36,1.16,2.43,true,0.07,-0.03,0,0,0]
["TCGA-BR-8060-11A-01R-2343-13",false,false,0.07,60.02,1,32.34,1.12,7.8,true,0.07,0.02,0,0.01,0]
["TCGA-KB-A93G-01A-11R-A39E-31",false,false,0.07,206.43,0,90.65,12.95,1.39,true,0.07,1.67,0.02,0.27,-0.03]
["TCGA-BR-6710-01A-11R-1884-13",false,false,0.07,62.78,1,45.91,0.98,4.99,true,0.07,-0.03,0,0,0]
["TCGA-B7-5816-01A-21R-1602-13",false,false,0.07,850.08,1,261.75,27.5,5.96,true,0.07,0.68,0.02,0.12,-0.05]
["TCGA-BR-6709-01A-11R-1884-13",false,false,0.07,1211.12,0,328.61,9.03,39.37,true,0.07,0.12,0,0.02,-0.03]
["TCGA-KB-A93J-01A-11R-A39E-31",false,false,0.07,813.34,0,225.83,8.83,7.93,true,0.07,0.08,0,0.02,-0.02]
["TCGA-FP-7916-01A-11R-2203-13",false,false,0.07,861.78,0,282.09,8.54,30.44,true,0.07,0.03,0,0.01,-0.02]
["TCGA-VQ-A91K-01A-11R-A414-31",false,false,0.07,261.48,1,137.96,4.65,5.85,true,0.07,0.47,0.02,0.06,-0.01]
["TCGA-BR-6456-01A-11R-1802-13",false,false,0.07,252.56,0,127.27,4.35,9.95,true,0.07,1.05,0.03,0.14,-0.01]
["TCGA-BR-8364-01A-11R-2343-13",false,false,0.07,397.76,0,108.11,2.11,15.74,true,0.07,1.35,0.01,0.2,0]
["TCGA-BR-6453-11A-01R-1802-13",false,false,0.07,273.05,1,76.4,1.53,4.61,true,0.07,-0.04,0,-0.01,0]
["TCGA-BR-7958-01A-21R-2343-13",false,false,0.07,1559.83,0,480.6,15.23,68.48,true,0.07,0.11,0,0.02,-0.02]
["TCGA-BR-8058-01A-31R-2343-13",false,false,0.07,680.34,0,199.05,4.78,29.99,true,0.07,0.12,-0.01,0.03,-0.02]
["TCGA-B7-A5TK-01A-12R-A36D-31",false,false,0.06,1799.21,0,450.17,60.84,66.16,true,0.06,0.24,0.01,0.05,-0.04]
["TCGA-IN-7808-01A-11R-2203-13",false,false,0.06,486.42,0,129.38,3.29,20.2,true,0.06,0.03,0,0,0]
["TCGA-D7-8578-01A-21R-2343-13",false,false,0.06,138.01,0,70.12,3.14,7.78,true,0.06,1.05,0.02,0.17,-0.01]
["TCGA-VQ-A8PD-01A-11R-A414-31",false,false,0.06,339.74,0,129.45,5.64,15.4,true,0.06,0.1,0,0.02,-0.01]
["TCGA-CG-5719-01A-11R-1602-13",false,false,0.06,242.18,0,121.67,1.38,1.94,true,0.06,0.8,0.02,0.11,-0.01]
["TCGA-BR-A44T-01A-32R-A24K-31",false,false,0.06,518.18,0,123.19,3.94,12.39,true,0.06,0.59,0.02,0.05,0.01]
["TCGA-VQ-A923-01A-11R-A414-31",false,false,0.06,632.03,0,234.83,8.84,39.44,true,0.06,0.05,0,0.01,-0.03]
["TCGA-D7-6524-01A-11R-1802-13",false,false,0.06,192.23,0,94.49,6.46,3.41,true,0.06,1.21,0.03,0.17,-0.02]
["TCGA-D7-5577-01A-01R-1602-13",false,false,0.05,1083.75,0,369.2,11.59,27.02,true,0.05,0.19,0.02,0.02,-0.02]
["TCGA-D7-6818-01A-11R-1884-13",false,false,0.05,307.37,0,132.87,2.25,1.39,true,0.05,0.63,0.01,0.09,-0.01]
["TCGA-BR-8384-01A-21R-2402-13",false,false,0.05,303.99,0,123.82,3.5,22.24,true,0.05,1.15,0.01,0.16,0]
["TCGA-D7-6521-01A-11R-1802-13",false,false,0.05,259.12,0,112.23,2.05,12.62,true,0.05,0.26,0,0.04,0]
["TCGA-BR-7196-01A-11R-2055-13",false,false,0.05,535.02,0,224.05,3.84,18.97,true,0.05,0.13,0,0.02,-0.02]
["TCGA-FP-7829-11A-01R-2055-13",false,false,0.05,68.17,1,45.25,1.94,0.38,true,0.05,1.03,0.01,0.13,0.01]
["TCGA-CD-5798-01A-11R-1602-13",false,false,0.05,236.48,0,97.57,1.96,5.47,true,0.05,1.03,0.03,0.13,0]
["TCGA-BR-7704-01A-11R-2055-13",false,false,0.05,1081.58,0,455.21,4.63,19.21,true,0.05,0.17,0.01,0.02,-0.02]
["TCGA-CG-5722-01A-21R-1602-13",false,false,0.05,739.42,0,249.43,23.02,37.11,true,0.05,0.05,0.01,0,0]
["TCGA-HU-A4HB-01A-12R-A251-31",false,false,0.05,449.7,0,127.17,3.42,13.61,true,0.05,-0.01,0,0,-0.01]
["TCGA-CD-A4MI-01A-21R-A251-31",false,false,0.05,816.04,0,227.16,6.57,18.46,true,0.05,0.49,0.01,0.08,-0.02]
["TCGA-BR-6458-01A-11R-1802-13",false,false,0.05,628.97,0,240.7,5.29,19.02,true,0.05,0.73,0.02,0.1,-0.01]
["TCGA-HF-7132-01A-11R-2055-13",false,false,0.05,374.07,1,133.58,6.41,17.67,true,0.05,0.04,0,0.01,-0.01]
["TCGA-VQ-A8PC-01A-11R-A39E-31",false,false,0.05,252.39,0,113.04,3.59,5.55,true,0.05,0.1,0.01,0.02,-0.02]
["TCGA-CG-5730-11A-01R-1602-13",false,false,0.05,173.02,1,53.27,1.59,2.59,true,0.05,-0.02,0,0,0]
["TCGA-BR-8291-01A-11R-2343-13",false,false,0.05,460.55,0,108.15,1.4,16.77,true,0.05,0.86,0,0.13,-0.01]
["TCGA-VQ-A927-01A-12R-A414-31",false,false,0.05,120.03,1,61.14,2.08,2.17,true,0.05,0.03,0,0,-0.01]
["TCGA-CG-5717-01A-11R-1602-13",false,false,0.05,248.04,1,93.41,9.14,8.67,true,0.05,-0.09,0,0.01,-0.03]
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