{"text_format":"3","workbook":"xls","n_sheets":7,"sheets":["Table Legends","Table S1","Table S2","Table S3","Table S4","Table S5","Table S6"],"read":"whole","date_system":"1900","formulas":"cached_only"}

{"sheet":"Table Legends","index":0,"n_rows":7,"n_cols":2,"rows_kept":7,"flags":["formulas_cached_only"]}
["Table ID","Content"]
["Table S1","Clinical Characteristics by Family History"]
["Table S2","Imputation Performance by Info Bins"]
["Table S3","Imputation Performance By MAF Bins"]
["Table S4","PRS Performance"]
["Table S5","Pathogenic Variants Carriers"]
["Table S6","Effects of Removing PV Carriers"]

{"sheet":"Table S1","index":1,"n_rows":36,"n_cols":7,"rows_kept":36,"flags":["formulas_cached_only"]}
[null,null,"Grouped by Has 1st Degree Relative with Breast Cancer","Grouped by Has 1st Degree Relative with Breast Cancer","Grouped by Has 1st Degree Relative with Breast Cancer","Grouped by Has 1st Degree Relative with Breast Cancer","Grouped by Has 1st Degree Relative with Breast Cancer"]
[null,null,"Missing","Overall",false,true,"P-Value"]
["n",null,null,220,177,27]
["Age, mean (SD)",null,16,"47.7 (10.1)","47.7 (10.2)","47.5 (9.6)",0.912]
["ER+, n (%)","Negative",72,"30 (20.3)","27 (20.8)","3 (17.6)",1]
["ER+, n (%)","Positive",null,"118 (79.7)","103 (79.2)","14 (82.4)"]
["PR+, n (%)","Negative",72,"40 (27.0)","36 (27.7)","4 (23.5)",1]
["PR+, n (%)","Positive",null,"108 (73.0)","94 (72.3)","13 (76.5)"]
["HER2+, n (%)","Negative",80,"106 (75.7)","93 (76.2)","13 (76.5)",1]
["HER2+, n (%)","Positive",null,"34 (24.3)","29 (23.8)","4 (23.5)"]
["Histology, n (%)"," Other",16,"11 (5.4)","9 (5.1)","2 (7.4)",0.595]
["Histology, n (%)","Ductal carcinoma in situ",null,"22 (10.8)","18 (10.2)","4 (14.8)"]
["Histology, n (%)","Inflammatory breast cancer",null,"2 (1.0)","2 (1.1)"]
["Histology, n (%)","Invasive ductal carcinoma",null,"137 (67.2)","122 (68.9)","15 (55.6)"]
["Histology, n (%)","Invasive lobular carcinoma",null,"21 (10.3)","16 (9.0)","5 (18.5)"]
["Histology, n (%)","Lobular carcinoma in situ",null,"4 (2.0)","4 (2.3)"]
["Histology, n (%)","Medullary carcinoma Mucinous (colloid) carcinoma",null,"2 (1.0)","2 (1.1)"]
["Histology, n (%)","Papillary carcinoma",null,"2 (1.0)","2 (1.1)"]
["Histology, n (%)","Phyllodes tumors",null,"1 (0.5)","1 (0.6)"]
["Histology, n (%)","Tubular carcinoma",null,"2 (1.0)","1 (0.6)","1 (3.7)"]
["Gene with Pathogenic Variant, n (%)","ATM",0,"4 (1.8)","3 (1.7)","1 (3.7)",0.452]
["Gene with Pathogenic Variant, n (%)","BRCA1",null,"4 (1.8)","3 (1.7)","1 (3.7)"]
["Gene with Pathogenic Variant, n (%)","BRCA2",null,"10 (4.5)","8 (4.5)","2 (7.4)"]
["Gene with Pathogenic Variant, n (%)","FAH",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","FANCA",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","FANCC",null,"1 (0.5)",null,"1 (3.7)"]
["Gene with Pathogenic Variant, n (%)","FANCD2",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","FANCI",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","MPL",null,"2 (0.9)","2 (1.1)"]
["Gene with Pathogenic Variant, n (%)","Multiple",null,"4 (1.8)","2 (1.1)","2 (7.4)"]
["Gene with Pathogenic Variant, n (%)","NF1",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","None",null,"183 (83.2)","147 (83.1)","20 (74.1)"]
["Gene with Pathogenic Variant, n (%)","POLH",null,"1 (0.5)","1 (0.6)"]
["Gene with Pathogenic Variant, n (%)","PTEN",null,"2 (0.9)","2 (1.1)"]
["Gene with Pathogenic Variant, n (%)","SDHB",null,"2 (0.9)","2 (1.1)"]
["Gene with Pathogenic Variant, n (%)","XPC",null,"2 (0.9)","2 (1.1)"]

{"sheet":"Table S2","index":2,"n_rows":11,"n_cols":10,"rows_kept":11,"flags":["formulas_cached_only"]}
["Imputation Quality Score Bins","variant_evaluated","number_of_samples_evaluated","dosage_correlation_mean","dosage_correlation_std","dosage_correlation_min","dosage_correlation_25%","dosage_correlation_50%","dosage_correlation_75%","dosage_correlation_max"]
["(0.0, 0.1]",83762,182,0.0585730290204287,0.170760573609923,{"v":9.95139905304746e-07,"d":"9.95E-07"},{"v":2.47136971971861e-05,"d":"2.47E-05"},{"v":4.93341556051721e-05,"d":"4.93E-05"},0.00112298509171878,0.99607928521641]
["(0.1, 0.2]",25089,213,0.368827468387678,0.213955179035306,0.000522869222132057,0.202904333736203,0.355153680484181,0.534252683322241,0.933106775979877]
["(0.2, 0.3]",21109,215,0.498501707067569,0.124539426126549,0.183486670134513,0.416019296660922,0.496535215978903,0.592886791720118,0.788534439991513]
["(0.3, 0.4]",33568,215,0.520443050280575,0.0678787517302894,0.28370996013032,0.473809112076473,0.521318825576312,0.56334907353456,0.716181382706074]
["(0.4, 0.5]",68026,215,0.564494583476363,0.0526917162740766,0.431851276515481,0.531980571889604,0.565088964602738,0.599503333373745,0.702830599914557]
["(0.5, 0.6]",118680,215,0.610497424357733,0.0418567246408214,0.482589157909419,0.585879399398778,0.61129110244699,0.635108163712567,0.735817918376278]
["(0.6, 0.7]",200170,215,0.679442157419075,0.0283550933020041,0.558795193144294,0.662272214123365,0.67977010603497,0.69878163473725,0.758864939133386]
["(0.7, 0.8]",376761,215,0.750842668961047,0.0211390560654838,0.688033162135973,0.738550706784005,0.750089799912136,0.763203358995546,0.812884386525141]
["(0.8, 0.9]",863447,215,0.84309725233793,0.0131391172287449,0.803570009821198,0.835476848185114,0.844067101982292,0.851524791248578,0.882907445487976]
["(0.9, 1.0]",10968597,215,0.953043093151515,0.00719830272622632,0.924271515995177,0.949246345246847,0.954239251151018,0.957982592293209,0.966371932420444]

{"sheet":"Table S3","index":3,"n_rows":27,"n_cols":10,"rows_kept":27,"flags":["formulas_cached_only"]}
["Filter Status","Cohort Minor Allele Frequency Bins","number_of_samples_evaluated","dosage_correlation_mean","dosage_correlation_std","dosage_correlation_min","dosage_correlation_25%","dosage_correlation_50%","dosage_correlation_75%","dosage_correlation_max"]
["Post-filtered","(0.0, 0.005]",215,0.939413535610797,0.0200874969388567,0.872525702750327,0.928280690058341,0.940585912811916,0.952439258203496,0.98349946545285]
["Post-filtered","(0.005, 0.01]",215,0.935838216926262,0.0196574916327364,0.84130907550507,0.923968204733943,0.937111569813116,0.947364452191794,0.976517114282097]
["Post-filtered","(0.01, 0.02]",215,0.938695057738793,0.0132991670339617,0.896025587867395,0.930567887361249,0.939810472832377,0.947892469058269,0.968844950689735]
["Post-filtered","(0.02, 0.05]",215,0.937808816386161,0.00970456981999331,0.902251147050969,0.9311151563927,0.938607735925195,0.944851650488797,0.959345530067823]
["Post-filtered","(0.05, 0.1]",215,0.943142219531415,0.00775014561566749,0.92095131731257,0.938952106197592,0.943595928501951,0.94826760634462,0.960150529787184]
["Post-filtered","(0.1, 0.15]",215,0.947254743803231,0.00788120334920374,0.920236393952555,0.942325079455698,0.94850363907303,0.952628867207449,0.966720652110355]
["Post-filtered","(0.15, 0.2]",215,0.947121110181765,0.00840934146078624,0.914386703925629,0.94170712811443,0.947667985311162,0.952658139464228,0.967077871087606]
["Post-filtered","(0.2, 0.25]",215,0.944899837548318,0.00900698145739603,0.910029466298416,0.939338583347465,0.945314409738803,0.951146051519468,0.966465670512798]
["Post-filtered","(0.25, 0.3]",215,0.945668374728302,0.0100782107287193,0.898279913570433,0.940641995213417,0.947153530717953,0.952813218788025,0.963662184883388]
["Post-filtered","(0.3, 0.35]",215,0.945043823210097,0.010379385831207,0.89924611921327,0.939236545817955,0.946415526527146,0.952345498225456,0.968842802303374]
["Post-filtered","(0.35, 0.4]",215,0.944730025030823,0.0103575611499047,0.911401672934427,0.938889251182374,0.946061568229445,0.952229454809503,0.964939978650376]
["Post-filtered","(0.4, 0.45]",215,0.942941123581457,0.011566028150817,0.900424643096215,0.936662952172923,0.944999599462725,0.949692521313754,0.963654836450037]
["Post-filtered","(0.45, 0.5]",215,0.943124551894842,0.0114100546117035,0.893771915182778,0.93701398791228,0.944052735240505,0.951343217377923,0.965971174428128]
["Pre-filtered","(0.0, 0.005]",215,0.683002706875958,0.0590334691235557,0.47711103350891,0.648122377211883,0.674343123908481,0.708766298446886,0.836866135100692]
["Pre-filtered","(0.005, 0.01]",215,0.667485305075509,0.048332029066935,0.500519385834993,0.638828593818273,0.665906615468922,0.693701944438577,0.775577361122641]
["Pre-filtered","(0.01, 0.02]",215,0.710002604214339,0.0273506956076877,0.635544006039754,0.692548516331713,0.710239035088856,0.727960272626437,0.793706599236868]
["Pre-filtered","(0.02, 0.05]",215,0.75670389513536,0.0185443400921226,0.710276622479981,0.744917801366031,0.758175547117177,0.76966552406525,0.800456090915889]
["Pre-filtered","(0.05, 0.1]",215,0.791554888276553,0.015478435981147,0.754647509406946,0.780004160752736,0.791080379336823,0.801979956182006,0.838113253001747]
["Pre-filtered","(0.1, 0.15]",215,0.832649757302528,0.0138341782408334,0.796470411200423,0.822798555127759,0.833559154545944,0.842272208707505,0.866111504973924]
["Pre-filtered","(0.15, 0.2]",215,0.847286852544489,0.0136472852559029,0.799018462099581,0.839437608717867,0.848970768764522,0.855424841421698,0.885265825055562]
["Pre-filtered","(0.2, 0.25]",215,0.8575617020357,0.0129520500137649,0.81589968272353,0.849932902733896,0.857457622304959,0.866348354983511,0.886749846454962]
["Pre-filtered","(0.25, 0.3]",215,0.855918885715877,0.0138873458234523,0.804920737061677,0.845752100038277,0.856575153096215,0.865153974604367,0.890345294449099]
["Pre-filtered","(0.3, 0.35]",215,0.873855690537014,0.013708074038022,0.816284191483901,0.86589080660515,0.875487916185157,0.881779472341226,0.908847197318513]
["Pre-filtered","(0.35, 0.4]",215,0.878014778456284,0.0144161446297525,0.834042649342401,0.867606996516244,0.879480950506398,0.8883193872753,0.91500843983164]
["Pre-filtered","(0.4, 0.45]",215,0.883644519368353,0.0143982656444399,0.833668521853063,0.876214769142227,0.884979342687588,0.892919572339204,0.91715922385589]
["Pre-filtered","(0.45, 0.5]",215,0.873387946601352,0.0143401112457678,0.817715288953896,0.864956159738741,0.875166663814167,0.883889404202426,0.906487151967216]

{"sheet":"Table S4","index":4,"n_rows":22,"n_cols":30,"rows_kept":22,"flags":["formulas_cached_only"]}
["PRS ID","Number of SNPs in PRS","PRS Derivation Method","AUC_population Validation Database","Total Number of Patients","Total Number of Patients with First-degree Relative with Breast Cancer","Total Number of Patients with Any-degree Relative with Breast Cancer","PRS_raw AUC_fam","PRS_adjusted AUC_fam","PRS_adjusted AUC_fam-any","Change in AUC_fam after adjusting for population","Change in AUC_fam-any after adjusting for population","Total Number of ER+ or PR+ Patients","Total Number of ER+ or PR+ Patients with First-degree Relative with Breast Cancer","Total Number of ER+ or PR+ Patients with Any-degree Relative with Breast Cancer","PRS_raw AUC_fam (ER+ or PR+)","PRS_adjusted AUC_fam (ER+ or PR+)","PRS_adjusted AUC_fam-anyn(ER+ or PR+)","Total Number of HER2+ Patients","Total Number of HER2+ Patients with First-degree Relative with Breast Cancer","Total Number of HER2+ Patients with Any-degree Relative with Breast Cancer","PRS_raw AUC_fam (HER2+ only)","PRS_adjusted AUC_fam (HER2+ only)","PRS_adjusted AUC_fam-any (HER2+ only)","Total Number of TNBC Patients","Total Number of TNBC Patients with First-degree Relative with Breast Cancer","Total Number of TNBC Patients with Any-degree Relative with Breast Cancer","PRS_raw AUC_fam (TNBC only)","PRS_adjusted AUC_fam (TNBC only)","PRS_adjusted AUC_fam-any (TNBC only)"]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608",118388,"Lassosum","MGI",200,25,53,0.649371428571428,0.662628571428571,0.604800410730329,0.0132571428571428,0.00872801950969071,117,13,28,0.644600591715976,0.64792899408284,0.550963081861958,32,3,7,0.379310344827586,0.413793103448275,0.588571428571428,17,1,7,1,1,0.657142857142857]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608",286144,"Lassosum","UKB",200,25,53,0.655771428571428,0.661942857142857,0.586830958798613,0.0061714285714286,-0.000256706456167377,117,13,28,0.65421597633136,0.647189349112426,0.522873194221508,32,3,7,0.367816091954023,0.379310344827586,0.559999999999999,17,1,7,1,1,0.671428571428571]
["PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608",6977,"Lassosum","MGI",200,25,53,0.666171428571428,0.655999999999999,0.579771531254011,-0.0101714285714286,-0.0021820048774227,117,13,28,0.611686390532544,0.585059171597633,0.524478330658105,32,3,7,0.304597701149425,0.28735632183908,0.525714285714285,17,1,7,1,1,0.599999999999999]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608",1116546,"PRS-CS","UKB",200,25,53,0.625028571428571,0.641828571428571,0.563213964831215,0.0167999999999999,0.011808496983699,117,13,28,0.60576923076923,0.599852071005917,0.517656500802568,32,3,7,0.356321839080459,0.379310344827586,0.554285714285714,17,1,7,1,1,0.514285714285714]
["PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608",79,"P&T","UKB",200,25,53,0.573485714285714,0.572571428571428,0.553074059812604,-0.000914285714285756,-0.00320883070209221,117,13,28,0.596153846153846,0.603550295857988,0.515248796147672,32,3,7,0.505747126436781,0.517241379310344,0.405714285714285,17,1,7,0.6875,0.5,0.471428571428571]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608",1682,"P&T","UKB",200,25,53,0.566857142857142,0.579657142857142,0.551277114619432,0.0128,0.000128353228083799,117,13,28,0.539940828402366,0.560650887573964,0.449036918138041,32,3,7,0.413793103448275,0.494252873563218,0.56,17,1,7,1,1,0.671428571428571]
["PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-05_UKB_20200608",105,"P_5e-05","UKB",200,25,53,0.5584,0.549942857142857,0.551020408163265,-0.00845714285714283,-0.0112950840713644,117,13,28,0.534023668639053,0.526627218934911,0.509229534510433,32,3,7,0.540229885057471,0.528735632183908,0.388571428571428,17,1,7,0.9375,0.875,0.757142857142857]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608",3038,"P&T","MGI",200,25,53,0.593028571428571,0.601828571428571,0.550635348479014,0.00880000000000014,-0.00134770889487867,117,13,28,0.576923076923077,0.582100591715976,0.467495987158908,32,3,7,0.517241379310344,0.540229885057471,0.611428571428571,17,1,7,1,1,0.671428571428571]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608",1119140,"PRS-CS","MGI",200,25,53,0.5696,0.575771428571428,0.54562957258375,0.00617142857142849,0.00487742266718016,117,13,28,0.545488165680473,0.534023668639053,0.475922953451043,32,3,7,0.344827586206896,0.344827586206896,0.525714285714285,17,1,7,1,1,0.714285714285714]
["PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608",1120410,"PRS-CS","UKB",200,25,53,0.591085714285714,0.6032,0.544859453215248,0.0121142857142858,0.00301630085996662,117,13,28,0.564349112426035,0.560650887573964,0.458266452648475,32,3,7,0.367816091954023,0.367816091954023,0.525714285714285,17,1,7,1,1,0.7]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608",18356,"Lassosum","MGI",200,25,53,0.625714285714285,0.619885714285714,0.544602746759081,-0.00582857142857151,-0.00808625336927215,117,13,28,0.58284023668639,0.56878698224852,0.493579454253611,32,3,7,0.310344827586206,0.356321839080459,0.508571428571428,17,1,7,1,1,0.428571428571428]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608",1115484,"PRS-CS","MGI",200,25,53,0.616457142857142,0.619657142857142,0.543960980618662,0.00319999999999998,0.00487742266717994,117,13,28,0.592825443786982,0.565828402366864,0.491573033707865,32,3,7,0.344827586206896,0.333333333333333,0.508571428571428,17,1,7,1,1,0.571428571428571]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608",7118,"Lassosum","UKB",200,25,53,0.637942857142857,0.638171428571428,0.541393916056988,0.000228571428571355,-0.010653317930946,117,13,28,0.600591715976331,0.600591715976331,0.499197431781701,32,3,7,0.390804597701149,0.459770114942528,0.611428571428571,17,1,7,1,1,0.442857142857142]
["PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608",1111495,"PRS-CS","MGI",200,25,53,0.563771428571428,0.566628571428571,0.538056732126813,0.00285714285714289,0.00584007187780777,117,13,28,0.498150887573964,0.497041420118343,0.506019261637239,32,3,7,0.183908045977011,0.218390804597701,0.502857142857142,17,1,7,1,1,0.685714285714285]
["PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608",2267,"Lassosum","MGI",200,25,53,0.664914285714285,0.654857142857142,0.536901553074059,-0.0100571428571429,-0.00198947503529722,117,13,28,0.604659763313609,0.594674556213017,0.487961476725521,32,3,7,0.310344827586206,0.28735632183908,0.417142857142857,17,1,7,1,1,0.614285714285714]
["PGS000004",313,"Hard-Thresholding","UKB",200,25,53,0.573714285714285,0.5856,0.529072006160955,0.0118857142857142,0.00263124117571555,117,13,28,0.561390532544378,0.574704142011834,0.462680577849117,32,3,7,0.333333333333333,0.344827586206896,0.548571428571428,17,1,7,1,1,0.428571428571428]
["PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608",4047,"Lassosum","MGI",200,25,53,0.634857142857142,0.632,0.52021563342318,-0.00285714285714289,-0.00160441535104616,117,13,28,0.577292899408284,0.566568047337278,0.465088282504012,32,3,7,0.344827586206896,0.402298850574712,0.485714285714285,17,1,7,1,0.9375,0.742857142857142]
["PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608",84,"P&T","MGI",200,25,53,0.584457142857142,0.584457142857142,0.508150429983314,{"v":1.11022302462515e-16,"d":"1.11E-16"},0.00564754203568218,117,13,28,0.516272189349112,0.524408284023668,0.47191011235955,32,3,7,0.28735632183908,0.402298850574712,0.399999999999999,17,1,7,1,1,0.6]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608",85,"P&T","UKB",200,25,53,0.517485714285714,0.510628571428571,0.49236298292902,-0.00685714285714289,-0.00949813887819278,117,13,28,0.500739644970414,0.493343195266272,0.471107544141251,32,3,7,0.344827586206896,0.356321839080459,0.382857142857142,17,1,7,0.8125,0.8125,0.585714285714285]
["PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608",120,"P&T","MGI",200,25,53,0.534971428571428,0.518171428571428,0.487613913489924,-0.0168000000000001,-0.0111025542292389,117,13,28,0.45784023668639,0.440088757396449,0.467897271268057,32,3,7,0.333333333333333,0.333333333333333,0.497142857142857,17,1,7,1,1,0.628571428571428]
["PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608",363,"P&T","MGI",200,25,53,0.484114285714285,0.481828571428571,0.484533436015915,-0.00228571428571433,0.0010268258246695,117,13,28,0.478550295857988,0.48594674556213,0.437399678972712,32,3,7,0.390804597701149,0.390804597701149,0.48,17,1,7,0.9375,1,0.557142857142857]

{"sheet":"Table S5","index":5,"n_rows":39,"n_cols":7,"rows_kept":39,"flags":["formulas_cached_only"]}
["Carrier","Gene","Pathogenic Variant Type"," Clinvar Significance","Clinvar Submissions","HGVS Codon Change","HGVS Protein Change"]
["BC_P_028","SDHB","missense_variant","Conflicting_interpretations_of_pathogenicity","Likely_pathogenic(1),Uncertain_significance(1)","ENST00000375499.8:c.143A>T","ENSP00000364649.3:p.Asp48Val"]
["BC_P_161","SDHB","missense_variant","Conflicting_interpretations_of_pathogenicity","Likely_pathogenic(1),Uncertain_significance(1)","ENST00000375499.8:c.143A>T","ENSP00000364649.3:p.Asp48Val"]
["BC_P_206","SDHB","missense_variant","Conflicting_interpretations_of_pathogenicity","Likely_pathogenic(1),Uncertain_significance(1)","ENST00000375499.8:c.143A>T","ENSP00000364649.3:p.Asp48Val"]
["BC_P_059","MPL","missense_variant","Pathogenic/Likely_pathogenic","-","ENST00000372470.9:c.317C>T","ENSP00000361548.3:p.Pro106Leu"]
["BC_P_098","MPL","missense_variant","Pathogenic/Likely_pathogenic","-","ENST00000372470.9:c.317C>T","ENSP00000361548.3:p.Pro106Leu"]
["BC_P_137","MPL","missense_variant","Pathogenic/Likely_pathogenic","-","ENST00000372470.9:c.317C>T","ENSP00000361548.3:p.Pro106Leu"]
["BC_P_075","FANCD2","inframe_deletion","Pathogenic","-","ENST00000675286.1:c.813_815del","ENSP00000502379.1:p.Ser272del"]
["BC_P_146","XPC","splice_acceptor_variant","Pathogenic","-","ENST00000285021.12:c.2251-1G>C","-"]
["BC_P_171","XPC","splice_acceptor_variant","Pathogenic","-","ENST00000285021.12:c.2251-1G>C","-"]
["BC_P_129","POLH","stop_gained","-","-","ENST00000372236.9:c.535C>T","ENSP00000361310.4:p.Gln179Ter"]
["BC_P_036","FANCC","stop_gained","Conflicting_interpretations_of_pathogenicity","Likely_pathogenic(2),Uncertain_significance(1)","ENST00000289081.8:c.1663C>T","ENSP00000289081.3:p.Arg555Ter"]
["BC_P_094","XPA","stop_gained","-","-","ENST00000375128.5:c.589C>T","ENSP00000364270.5:p.Gln197Ter"]
["BC_P_046","PTEN","stop_gained","Pathogenic","-","ENST00000371953.8:c.49C>T","ENSP00000361021.3:p.Gln17Ter"]
["BC_P_132","PTEN","stop_gained","Pathogenic","-","ENST00000371953.8:c.1003C>T","ENSP00000361021.3:p.Arg335Ter"]
["BC_P_145","ATM","frameshift_variant","-","-","ENST00000675843.1:c.1904_1905del","ENSP00000501606.1:p.His635ProfsTer5"]
["BC_P_007","ATM","frameshift_variant","Pathogenic/Likely_pathogenic","-","ENST00000675843.1:c.3279_3282del","ENSP00000501606.1:p.Asn1094AspfsTer14"]
["BC_P_081","ATM","frameshift_variant","-","-","ENST00000675843.1:c.9066del","ENSP00000501606.1:p.Gly3023AlafsTer10"]
["BC_P_044","BRCA2","stop_gained","Pathogenic","-","ENST00000380152.8:c.414T>A","ENSP00000369497.3:p.Cys138Ter"]
["BC_P_001","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_009","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_010","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_028","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_059","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_073","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_130","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_136","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_178","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_183","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_185","BRCA2","frameshift_variant","Pathogenic","-","ENST00000380152.8:c.2808_2811del","ENSP00000369497.3:p.Ala938ProfsTer21"]
["BC_P_003","BRCA2","frameshift_variant","-","-","ENST00000380152.8:c.6262_6278del","ENSP00000369497.3:p.Thr2088LeufsTer6"]
["BC_P_166","FAH","stop_gained,splice_region_variant","Pathogenic","-","ENST00000561421.6:c.709C>T","ENSP00000453347.2:p.Arg237Ter"]
["BC_P_014","FANCI","splice_acceptor_variant","-","-","ENST00000310775.12:c.2292-1G>C","-"]
["BC_P_073","NF1","start_lost","Pathogenic","-","ENST00000358273.9:c.1A>G","ENSP00000351015.4:p.Met1?"]
["BC_P_088","BRCA1","frameshift_variant","Pathogenic","-","ENST00000357654.9:c.4658del","ENSP00000350283.3:p.Leu1553CysfsTer6"]
["BC_P_123","BRCA1","stop_gained","Pathogenic","-","ENST00000357654.9:c.4524G>A","ENSP00000350283.3:p.Trp1508Ter"]
["BC_P_082","BRCA1","frameshift_variant","Pathogenic","-","ENST00000357654.9:c.3083del","ENSP00000350283.3:p.Arg1028LeufsTer20"]
["BC_P_170","BRCA1","stop_gained","Pathogenic","-","ENST00000357654.9:c.1066C>T","ENSP00000350283.3:p.Gln356Ter"]
["BC_P_094","BRCA1","frameshift_variant","Pathogenic","-","ENST00000357654.9:c.411dup","ENSP00000350283.3:p.Leu138SerfsTer4"]

{"sheet":"Table S6","index":6,"n_rows":5,"n_cols":14,"rows_kept":5,"flags":["formulas_cached_only"]}
["label","num_case_entire_cohort","num_control_entire_cohort","num_total_entire_cohort","auc_entire_cohort","num_case_non_PV_carriers_only","num_control_non_PV_carriers_only","num_total_non_PV_carriers_only","auc_non_PV_carriers_only","auc_diff","auc_diff_relative","failed_trial","total_trial","pval"]
["Any cancer occurence in up to 2nd degree relative",86,114,200,0.546511627906976,66,100,166,0.591060606060606,0.0445489781536293,0.0815151515151515,131,10000,0.0131]
["Any cancer occurence in 1st degree relative",45,155,200,0.589534050179211,36,130,166,0.65042735042735,0.0608933002481389,0.103290556719545,145,10000,0.0145]
["Any cancer occurence in 1st degree relative",45,155,200,0.589534050179211,36,130,166,0.65042735042735,0.0608933002481389,0.103290556719545,149,10000,0.0149]
["BC occurence in 1st degree relative",25,175,200,0.662628571428571,18,148,166,0.772522522522522,0.109893951093951,0.165845476383592,136,10000,0.0136]