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{"sheet":"Table S2","index":0,"n_rows":124,"n_cols":75,"rows_kept":124,"merged":[[2,0,2,15],[2,16,2,21],[2,22,2,34],[2,35,2,44],[2,45,2,54],[2,55,2,58],[2,59,2,66],[2,67,2,74]]}
["Supplementary Table S2: Collection of variants used to compare the branch point prediction (n = 120)"]
[]
["General information",{"$nulls":15},"Acceptor consensus score",{"$nulls":5},"Branchpointer scores",{"$nulls":12},"BPP score",{"$nulls":9},"SVM BPfinder score",{"$nulls":9},"HSF3",{"$nulls":3},"LaBranchoR",{"$nulls":7},"RNABPS"]
["ID","chr","strand","gene","transcript","intron","cNomen","gNomen","distSS","varType","nb_analyse","Assay.Method","Author","published","Result","class_effect","MES_wt","MES_mut","delta_MES","SSF_wt","SSF_mut","delta_SSF","to_3prime","BP_num_REF","BP_num_ALT","deleted_n","created_n","max_prob_REF","max_prob_ALT","max_U2_REF","max_U2_ALT","PosPB_Branch","ProbPBarea_Branch","MutInPBarea_Branch","Delta_prob","bps_WT","bps_MUT","bp_pos_WT","bp_pos_MUT","zsc_WT","zsc_MUT","PosPB_BPP","ProbPBarea_BPP","MutInPBarea_BPP","Delta_BPP","ss_dist_WT","ss_dist_MUT","bp_seq_WT","bp_seq_MUT","svm_scr_WT","svm_scr_MUT","PosPB_SVM","ProbPBarea_SVM","MutInPBarea_SVM","Delta_SVM","score_wt","score_mut","delta_HSF","interpretation","LB_pos_WT","LB_pos_MUT","LB_score_WT","LB_score_MUT","PosPB_LB","ProbPBarea_LB","MutInPBarea_LB","Delta_LB","RBPS_posA_WT","RBPS_posA_MUT","RBPS_score_WT","RBPS_score_MUT","PosPB_RBPS","ProbPBarea_RBPS","MutInPBarea_RBPS","Delta_RBPS"]
["ABCC8_c.1672-20A>G","chr11","-","ABCC8","NM_000352","intron 11","c.1672-20",17452526,-20,"substitution",1,"RTPCR","Thomas PM, Wohllk N, Huang E, Kuhnle U, Rabl W, Gagel RF, et al. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet [Internet]. 1996 Sep;59(3):510–8. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914902/","Yes","use of 3 ss 72 nt upstream of physiological ss",1,11.36,10.45,{"$f":"(R5-Q5)/Q5","v":-0.08010563380281692},83.36,83.36,0,20,0,0,0,0,"NA","NA","NA","NA","c.1672-20",{"$f":"IF(FIND(\"-\",AF5)=3,\"c.-\"&MID(AF5,FIND(\"-\",AF5)+1,FIND(\"-\",MID(AF5,FIND(\"-\",AF5)+1,LEN(AF5))))&VALUE(RIGHT(AF5,2))+2&\"_\"&\"c.-\"&MID(AF5,FIND(\"-\",AF5)+1,FIND(\"-\",MID(AF5,FIND(\"-\",AF5)+1,LEN(AF5))))&VALUE(RIGHT(AF5,2))-1,MID(AF5,1,FIND(\"-\",AF5))&VALUE(RIGHT(AF5,2))+2&\"_\"&MID(AF5,1,FIND(\"-\",AF5))&VALUE(RIGHT(AF5,2))-1)","v":"c.1672-22_c.1672-19"},{"$f":"IF(AND(VALUE(RIGHT(G5,2))>=VALUE(RIGHT(AG5,2)),VALUE(RIGHT(G5,2))<=VALUE(MID(AG5,FIND(\"_\",AG5)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G5))),IF(OR(AND(VALUE(RIGHT(G5,2))<VALUE(RIGHT(AG5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(MID(AG5,FIND(\"_\",AG5)-2,2))),AND(VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(RIGHT(AG5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))<=VALUE(MID(AG5,FIND(\"_\",AG5)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(AB5=\"NA\",\"NA\",(AC5-AB5)/AB5)","v":"NA"},"GCCTCAC","GGGCCAC",25,36,7.68055543932868,7.00777865619091,"c.1672-20",{"$f":"IF(FIND(\"-\",AP5)=3,\"c.-\"&MID(AP5,FIND(\"-\",AP5)+1,FIND(\"-\",MID(AP5,FIND(\"-\",AP5)+1,LEN(AP5))))&VALUE(RIGHT(AP5,2))+2&\"_\"&\"c.-\"&MID(AP5,FIND(\"-\",AP5)+1,FIND(\"-\",MID(AP5,FIND(\"-\",AP5)+1,LEN(AP5))))&VALUE(RIGHT(AP5,2))-1,MID(AP5,1,FIND(\"-\",AP5))&VALUE(RIGHT(AP5,2))+2&\"_\"&MID(AP5,1,FIND(\"-\",AP5))&VALUE(RIGHT(AP5,2))-1)","v":"c.1672-22_c.1672-19"},{"$f":"IF(AND(VALUE(RIGHT(G5,2))>=VALUE(RIGHT(AQ5,2)),VALUE(RIGHT(G5,2))<=VALUE(MID(AQ5,FIND(\"_\",AQ5)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G5))),IF(OR(AND(VALUE(RIGHT(G5,2))<VALUE(RIGHT(AQ5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(MID(AQ5,FIND(\"_\",AQ5)-2,2))),AND(VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(RIGHT(AQ5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))<=VALUE(MID(AQ5,FIND(\"_\",AQ5)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"(AO5-AN5)/AN5","v":-0.08759480853334932},27,93,"gcctcactt","ctctcattt",1.3449685,0.85612616,"c.1672-20",{"$f":"IF(FIND(\"-\",AZ5)=3,\"c.-\"&MID(AZ5,FIND(\"-\",AZ5)+1,FIND(\"-\",MID(AZ5,FIND(\"-\",AZ5)+1,LEN(AZ5))))&VALUE(RIGHT(AZ5,2))+2&\"_\"&\"c.-\"&MID(AZ5,FIND(\"-\",AZ5)+1,FIND(\"-\",MID(AZ5,FIND(\"-\",AZ5)+1,LEN(AZ5))))&VALUE(RIGHT(AZ5,2))-1,MID(AZ5,1,FIND(\"-\",AZ5))&VALUE(RIGHT(AZ5,2))+2&\"_\"&MID(AZ5,1,FIND(\"-\",AZ5))&VALUE(RIGHT(AZ5,2))-1)","v":"c.1672-22_c.1672-19"},{"$f":"IF(AND(VALUE(RIGHT(G5,2))>=VALUE(RIGHT(BA5,2)),VALUE(RIGHT(G5,2))<=VALUE(MID(BA5,FIND(\"_\",BA5)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G5))),IF(OR(AND(VALUE(RIGHT(G5,2))<VALUE(RIGHT(BA5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(MID(BA5,FIND(\"_\",BA5)-2,2))),AND(VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(RIGHT(BA5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))<=VALUE(MID(BA5,FIND(\"_\",BA5)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"(AY5-AX5)/AX5","v":-0.3634600661651184},98.37,68.74,{"$f":"IF(BD5=0,0,(BE5-BD5)/BD5)","v":-0.3012097184100845},null,-20,-31,0.938817322254,0.311274170876,"c.1672-20",{"$f":"IF(FIND(\"-\",BL5)=3,\"c.-\"&MID(BL5,FIND(\"-\",BL5)+1,FIND(\"-\",MID(BL5,FIND(\"-\",BL5)+1,LEN(BL5))))&VALUE(RIGHT(BL5,2))+2&\"_\"&\"c.-\"&MID(BL5,FIND(\"-\",BL5)+1,FIND(\"-\",MID(BL5,FIND(\"-\",BL5)+1,LEN(BL5))))&VALUE(RIGHT(BL5,2))-1,MID(BL5,1,FIND(\"-\",BL5))&VALUE(RIGHT(BL5,2))+2&\"_\"&MID(BL5,1,FIND(\"-\",BL5))&VALUE(RIGHT(BL5,2))-1)","v":"c.1672-22_c.1672-19"},{"$f":"IF(AND(VALUE(RIGHT(G5,2))>=VALUE(RIGHT(BM5,2)),VALUE(RIGHT(G5,2))<=VALUE(MID(BM5,FIND(\"_\",BM5)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G5))),IF(OR(AND(VALUE(RIGHT(G5,2))<VALUE(RIGHT(BM5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(MID(BM5,FIND(\"_\",BM5)-2,2))),AND(VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(RIGHT(BM5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))<=VALUE(MID(BM5,FIND(\"_\",BM5)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BJ5=\"\",\"NA\",(BK5-BJ5)/BJ5)","v":-0.6684401070394995},-20,-20,94.54,40.55,"c.1672-20",{"$f":"IF(FIND(\"-\",BT5)=3,\"c.-\"&MID(BT5,FIND(\"-\",BT5)+1,FIND(\"-\",MID(BT5,FIND(\"-\",BT5)+1,LEN(BT5))))&VALUE(RIGHT(BT5,2))+2&\"_\"&\"c.-\"&MID(BT5,FIND(\"-\",BT5)+1,FIND(\"-\",MID(BT5,FIND(\"-\",BT5)+1,LEN(BT5))))&VALUE(RIGHT(BT5,2))-1,MID(BT5,1,FIND(\"-\",BT5))&VALUE(RIGHT(BT5,2))+2&\"_\"&MID(BT5,1,FIND(\"-\",BT5))&VALUE(RIGHT(BT5,2))-1)","v":"c.1672-22_c.1672-19"},{"$f":"IF(AND(VALUE(RIGHT(G5,2))>=VALUE(RIGHT(BU5,2)),VALUE(RIGHT(G5,2))<=VALUE(MID(BU5,FIND(\"_\",BU5)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G5))),IF(OR(AND(VALUE(RIGHT(G5,2))<VALUE(RIGHT(BU5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(MID(BU5,FIND(\"_\",BU5)-2,2))),AND(VALUE(MID(G5,FIND(\"_\",G5)-2,2))>=VALUE(RIGHT(BU5,2)),VALUE(MID(G5,FIND(\"_\",G5)-2,2))<=VALUE(MID(BU5,FIND(\"_\",BU5)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BR5=\"\",\"NA\",(BS5-BR5)/BR5)","v":-0.5710810239052253}]
["ALPL_c.793-33_793-14del","chr1","+","ALPL","NM_000478","intron 7","c.793-33_793-14",21896765,-19,"del",1,"minigene","Mentrup B, Girschick H, Jakob F, Hofmann C. A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. Bone [Internet]. 2017 Jan 1;94:75–83. Available from: http://www.sciencedirect.com/science/article/pii/S8756328216303180","Yes","skipping exon 8",1,3.67,5.21,0.41961852861035426,74.45,74.45,{"$f":"(U6-T6)/T6","v":0},31,0,0,0,0,"NA","NA","NA","NA","c.793-19","c.793-21_c.793-18","Yes","NA","TGCTGAC","TCCCTAG",24,22,4.79583152331272,4.99999999893692,"c.793-19","c.793-21_c.793-18","Yes",0.04257207006370615,26,58,"tgctgacac","ctctgatag",1.8338751,0.98123866,"c.793-19","c.793-21_c.793-18","Yes",-0.4649370286995008,88.96,55.82,-0.3725269784172661,"Site broken",-19,-21,0.857490360737,0.349917650223,"c.793-19","c.793-21_c.793-18","Yes",-0.5919281822337326,-19,-26,94.12,58.28,"c.793-19","c.793-21_c.793-18","Yes",-0.38079048023799406]
["APC_c.221-29G>C","chr5","+","APC","NM_000038","intron 3","c.221-29",112102857,-29,"substitution",1,"minigene","Inserm U1245","No","no effect",0,7.5,7.5,0,83.8,83.8,0,29,1,1,0,1,0.70621228807708,0.70621228807708,1.3,1.3,"c.221-27","c.221-29_c.221-26","Yes",0,"GTATAAA","CTATAAA",29,29,6.58067434853328,6.56624053115593,"c.221-24","c.221-26_c.221-23","No",-2.1933644810377723E-3,73,73,"atataacat","atataacat",-0.011151415,-0.0064018612,"c.221-89","c.221-91_c.221-88","No",-0.4259148995889759,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-27,-25,0.601339578629,0.671222686768,"c.221-27","c.221-29_c.221-26","Yes",0.11621238751376915,-27,-25,74.88,75.87,"c.221-27","c.221-29_c.221-26","Yes",0.01322115384615397]
["APC_c.730-29A>T","chr5","+","APC","NM_000038","intron 7","c.730-29",112136947,-29,"substitution",1,"minigene","Inserm U1245","No","no effect",0,5.97,5.97,0,83.51,83.51,0,29,1,1,1,0,0.718764894980751,0.718764894980751,2.3,2.3,"c.730-21","c.730-23_c.730-20","No",0,"TACTGAT","GGCTAAG",26,56,5.30427234409164,7.07453564771133,"c.730-21","c.730-23_c.730-20","No",0.333742913029638,22,22,"tgttaactc","tgttaactc",1.4786728,1.4786728,"c.730-15","c.730-17_c.730-14","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-21,-21,0.847830832005,0.818218708038,"c.730-21","c.730-23_c.730-20","No",-0.03492692510010692,-21,-21,88.97,88.04,"c.730-21","c.730-23_c.730-20","No",-0.010452961672473785]
["APC_c.835-24A>T","chr5","+","APC","NM_000038","intron 8","c.835-24",112151168,-24,"substitution",1,"minigene","Inserm U1245","No","no effect",0,9.21,9.21,0,83.65,83.65,0,24,0,0,0,0,0.44325620396969,0.44325620396969,"NA","NA","c.835-24","c.835-26_c.835-23","Yes",0,"CTATAAT","CTATAAT",22,22,6.34970728916174,6.03708951537164,"c.835-17","c.835-19_c.835-16","No",-0.04923341495185211,72,72,"ccttaacat","ccttaacat",0.73778892,0.74260938,"c.835-65","c.835-67_c.835-64","No",6.533657350126682E-3,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-27,-33,0.383705615997,0.490602731705,"c.835-27","c.835-29_c.835-26","No",0.27859148068564055,-24,-33,47.96,49.77,"c.835-24","c.835-26_c.835-23","Yes",0.037739783152627236]
["BRCA1_c.135-18T>G","chr17","-","BRCA1","NM_007294","intron 3","c.135-18",41258568,-18,"substitution",1,"RT-PCR+Seq","Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, et al. Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction. PLOS ONE [Internet]. 2012 Dec 11;7(12):e50800. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050800","Yes","skipping exon 5",1,8.19,6.96,-0.15018315018315015,81.18,81.18,0,18,0,0,0,0,0.477534831753235,0.477534831753235,"NA","NA","c.135-30","c.135-32_c.135-29","No",0,"AATTAAA","AATTAAA",35,35,4.908082335989,4.90498156656722,"c.135-30","c.135-32_c.135-29","No",-0.000631768012334024,37,37,"aattaaatt","aattaaatt",0.41754768,0.36087562,"c.135-30","c.135-32_c.135-29","No",-0.13572596068549578,0,0,0,"No Branch Point motif found in this sequence",-30,-30,0.435014039278,0.448226213455,"c.135-30","c.135-32_c.135-29","No",0.03037183397328627,-30,-30,61.4,61.08,"c.135-30","c.135-32_c.135-29","No",-0.005211726384364825]
["BRCA1_c.135-27T>A","chr17","-","BRCA1","NM_007294","intron 3","c.135-27",41258577,-27,"substitution",2,"RT-PCR One Step+Seq+Minigene","CFB + Inserm U1245","No","skipping exon 5",1,8.19,8.19,0,81.18,81.18,0,27,0,0,0,0,0.477534831753235,0.477534831753235,"NA","NA","c.135-30","c.135-32_c.135-29","No",0,"AATTAAA","AATTAAA",35,35,4.908082335989,4.22981885362052,"c.135-30","c.135-32_c.135-29","No",-0.1381931752438311,37,85,"aattaaatt","ttttcatgg",0.41754768,0.34761476,"c.135-30","c.135-32_c.135-29","No",-0.16748487262580397,0,0,0,"No Branch Point motif found in this sequence",-30,-30,0.435014039278,0.755409419537,"c.135-30","c.135-32_c.135-29","No",0.7365173335342592,-30,-30,61.4,76.79,"c.135-30","c.135-32_c.135-29","No",0.25065146579804576]
["BRCA1_c.302-24_302-22del","chr17","-","BRCA1","NM_007294","intron 5","c.302-24_302-22",41256300,-22,"del",1,"RTPCR","Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, et al. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat [Internet]. 2012 Apr 1;132(3):979–92. Available from: https://doi.org/10.1007/s10549-011-1661-5","Yes","no effect",0,11.68,11.68,0,91.36,91.36,0,22,0,0,0,0,"NA","NA","NA","NA","c.302-30","c.302-32_c.302-29","No","NA","CTCTAAC","CTCTAAC",40,37,8.04527153926977,8.3259650980425,"c.302-35","c.302-37_c.302-34","No",0.03488925854182018,42,39,"ctctaactg","ctctaactg",1.4063626,1.6037029,"c.302-35","c.302-37_c.302-34","No",0.14031964445015818,67.69,0,-1,"Site broken",-35,-32,0.366986304522,0.655805110931,"c.302-35","c.302-37_c.302-34","No",0.7870015933842186,-23,-32,39.12,78.16,"c.302-23","c.302-25_c.302-22","Yes",0.9979550102249489]
["BRCA1_c.4097-28A>G","chr17","-","BRCA1","NM_007294","intron 10","c.4097-28",41243077,-28,"substitution",1,"RT-PCR One Step+Seq+Minigene","CFB","No","no effect",0,8.15,8.15,0,88.48,88.48,0,28,3,2,0,0,0.881458413322665,0.890626409631373,1.5,0.3,"c.4097-23","c.4097-25_c.4097-22","No",0.01040094027141811,"ATCTGAA","GTCTGAA",28,28,6.72647544117,6.71600548593579,"c.4097-23","c.4097-25_c.4097-22","No",-0.001556529169812658,30,30,"atctgaacc","gtctgaacc",1.2538542,1.4182794,"c.4097-23","c.4097-25_c.4097-22","No",0.13113582105479263,80.83,83.45,0.03241370778176425,null,-28,-30,0.78123408556,0.524974942207,"c.4097-28","c.4097-30_c.4097-27","Yes",-0.3280183853848487,-28,-23,79.62,62.05,"c.4097-28","c.4097-30_c.4097-27","Yes",-0.22067319768902294]
["BRCA1_c.4097-29C>T","chr17","-","BRCA1","NM_007294","intron 10","c.4097-29",41243078,-29,"substitution",1,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012 ;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.15,8.15,0,88.48,88.48,0,29,3,3,2,1,0.881458413322665,0.881458413322665,1.5,1.5,"c.4097-23","c.4097-25_c.4097-22","No",0,"ATCTGAA","ATCTGAA",28,28,6.72647544117,6.91390702523603,"c.4097-23","c.4097-25_c.4097-22","No",0.027864754090803395,30,30,"atctgaacc","atctgaacc",1.2538542,1.2538542,"c.4097-23","c.4097-25_c.4097-22","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-28,-28,0.78123408556,0.505331218243,"c.4097-28","c.4097-30_c.4097-27","Yes",-0.3531628642639533,-28,-28,79.62,59.24,"c.4097-28","c.4097-30_c.4097-27","Yes",-0.2559658377292138]
["BRCA1_c.4186-41A>C","chr17","-","BRCA1","NM_007294","intron 11","c.4186-41",41234633,-41,"substitution",1,"Paxgene","CFB","No","no effect",0,4.57,4.57,0,78.07,78.07,0,41,0,0,0,0,"NA","NA","NA","NA","c.4186-31","c.4186-33_c.4186-30","No","NA","TTCTCAA","ATTTCAT",46,36,6.80901751610653,5.94487857832018,"c.4186-41","c.4186-43_c.4186-40","Yes",-0.1269109582611962,48,77,"ttctcaaag","gtatgatat",0.5832068,0.22453165,"c.4186-41","c.4186-43_c.4186-40","Yes",-0.6150050891038994,88.49,58.86,-0.3348400949259803,"Site broken",-31,-31,0.833700180054,0.908748149872,"c.4186-31","c.4186-33_c.4186-30","No",0.09001793643985902,-31,-31,80.32,88.3,"c.4186-31","c.4186-33_c.4186-30","No",0.09935258964143433]
["BRCA1_c.4358-31_4358-27del","chr17","-","BRCA1","NM_007294","intron 12","c.4358-31_4358-27",41228658,-31,"del",2,"RT-PCR one step +Seq + minigene","CPS + Inserm U1245","No","skipping exon 14",1,7.21,7.21,0,75.76,75.76,{"$f":"(U16-T16)/T16","v":0},27,0,0,0,0,"NA","NA","NA","NA","c.4358-31","c.4358-33_c.4358-30","Yes","NA","CAGTAAA","GAACAAA",36,39,5.91607591513111,5.90447798595283,"c.4358-31","c.4358-33_c.4358-30","Yes",-1.9604091199399605E-3,70,65,"ttctaacct","ttctaacct",1.6891752,1.6974565,"c.4358-63","c.4358-65_c.4358-62","No",0.00490257020112534,91.22,0,-1,"Site broken",-32,-27,0.57454419136,0.563410580158,"c.4358-32","c.4358-34_c.4358-31","Yes",-0.019378163367461183,-32,-27,66.41,64.81,"c.4358-32","c.4358-34_c.4358-31","Yes",-0.02409275711489225]
["BRCA1_c.4358-33T>G","chr17","-","BRCA1","NM_007294","intron 12","c.4358-33",41228664,-33,"substitution",2,"Minigene","CBCS + Inserm U1245","No","skipping exon 14",1,7.21,7.21,0,75.76,75.76,{"$f":"(U17-T17)/T17","v":0},33,0,0,0,0,0.328384151010906,0.328384151010906,"NA","NA","c.4358-31","c.4358-33_c.4358-30","Yes",0,"CAGTAAA","TTCTCAT",36,18,5.91607591513111,5.91607978309543,"c.4358-31","c.4358-33_c.4358-30","Yes",6.5380572796559989E-7,70,70,"ttctaacct","ttctaacct",1.6891752,1.6842064,"c.4358-63","c.4358-65_c.4358-62","No",-0.002941553960773213,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-32,-25,0.57454419136,0.574738264084,"c.4358-32","c.4358-34_c.4358-31","Yes",3.37785547079629E-4,-32,-25,66.41,69.96,"c.4358-32","c.4358-34_c.4358-31","Yes",0.053455804848667327]
["BRCA1_c.4358-37G>A","chr17","-","BRCA1","NM_007294","intron 12","c.4358-37",41228668,-37,"substitution",1,"Paxgene","CFB","No","no effect",0,7.21,7.21,0,75.76,75.76,0,37,0,0,0,0,"NA","NA","NA","NA","c.4358-31","c.4358-33_c.4358-30","No","NA","CAGTAAA","CAGTAAA",36,36,5.91607591513111,5.91607591513111,"c.4358-31","c.4358-33_c.4358-30","No",0,70,70,"ttctaacct","ttctaacct",1.6891752,1.6891752,"c.4358-63","c.4358-65_c.4358-62","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-32,-32,0.57454419136,0.565823674202,"c.4358-32","c.4358-34_c.4358-31","No",-0.015178148677054342,-32,-32,66.41,68.64,"c.4358-32","c.4358-34_c.4358-31","No",0.03357928022888126]
["BRCA1_c.442-25G>A","chr17","-","BRCA1","NM_007294","intron 6","c.442-25",41251922,-25,"substitution",1,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,3.71,3.71,0,66.37,66.37,{"$f":"(U19-T19)/T19","v":0},25,1,1,0,0,0.884692601746986,0.850138705762552,2.1,2.1,"c.442-24","c.442-26_c.442-23","Yes",-0.0390575166065604,"GCTTGAC","GCTTAAC",29,29,7.28670259248706,7.26706718611355,"c.442-24","c.442-26_c.442-23","Yes",-2.6946902421618067E-3,31,31,"gcttgactg","gcttaactg",1.2657509,1.2354493,"c.442-24","c.442-26_c.442-23","Yes",-0.023939623507279385,69.59,62.7,-0.0990084782296307,"Site broken",-24,-25,0.816758334637,0.726557791233,"c.442-24","c.442-26_c.442-23","Yes",-0.11043724879047447,-24,-25,83.42,79.68,"c.442-24","c.442-26_c.442-23","Yes",-0.04483337329177649]
["BRCA1_c.4987-20A>G","chr17","-","BRCA1","NM_007294","intron 15","c.4987-20",41219732,-20,"substitution",1,"RTPCR","Chen X, Truong T-TN, Weaver J, Bove BA, Cattie K, Armstrong BA, et al. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Human Mutation [Internet]. 2006;27(5):427–35. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.20319","Yes","no effect",0,6.69,6.5,-0.02840059790732442,83.98,83.98,0,20,1,2,1,1,0.802957273573286,0.839614460487045,0.8,0.9,"c.4987-30","c.4987-32_c.4987-29","No",0.04565272414885644,"AACTCAT","AACTCAT",35,35,4.18979856363665,4.19372047092827,"c.4987-30","c.4987-32_c.4987-29","No",9.3606106166009779E-4,19,19,"atttgattt","atttgattt",-0.86861441,-0.86861441,"c.4987-12","c.4987-14_c.4987-11","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-30,-30,0.700940608978,0.724748790264,"c.4987-30","c.4987-32_c.4987-29","No",0.03396604645394027,-30,-30,70.33,70.09,"c.4987-30","c.4987-32_c.4987-29","No",-3.4124840039811586E-3]
["BRCA1_c.5153-26A>G","chr17","-","BRCA1","NM_007294","intron 17","c.5153-26",41215416,-26,"substitution",2,"minigenes +\r RT-PCR+Seq","IGR + Inserm U1245","No","skipping exon 19 and skipping exon 18 and 19",1,8.78,8.78,0,82.52,82.52,0,26,3,3,1,0,0.910922394084287,0.910619227919244,2.1,2.1,"c.5153-27","c.5153-29_c.5153-26","Yes",-3.3281228676759143E-4,"ATGTAAC","TTTCTAT",31,18,7.54870982892873,5.91431813078743,"c.5153-26","c.5153-28_c.5153-25","Yes",-0.21651272007805378,78,78,"cgctgacct","cgctgacct",2.5889795,2.5889795,"c.5153-71","c.5153-73_c.5153-70","No",0,0,0,0,"No Branch Point motif found in this sequence",-26,-31,0.738092601299,0.73835080862,"c.5153-26","c.5153-28_c.5153-25","Yes",3.4983052335924351E-4,-26,-27,87.61,79.19,"c.5153-26","c.5153-28_c.5153-25","Yes",-0.09610775025682002]
["BRCA1_c.5153-26A>T","chr17","-","BRCA1","NM_007294","intron 17","c.5153-26",41215416,-26,"substitution",2,"RT-PCR One Step+Seq+Minigene","CFB + Inserm U1245","No","skipping exon 19",1,8.78,8.78,0,82.52,82.52,0,26,3,3,3,0,0.910922394084287,0.910922394084287,2.1,2.1,"c.5153-27","c.5153-29_c.5153-26","Yes",0,"ATGTAAC","CCGTGAA",31,59,7.54870982892873,7.54949237221046,"c.5153-26","c.5153-28_c.5153-25","Yes",1.0366583157441888E-4,78,78,"cgctgacct","cgctgacct",2.5889795,2.5934037,"c.5153-71","c.5153-73_c.5153-70","No",1.7088586448830042E-3,0,0,0,"No Branch Point motif found in this sequence",-26,-31,0.738092601299,0.738315105438,"c.5153-26","c.5153-28_c.5153-25","Yes",3.0145829752046237E-4,-26,-31,87.61,72.5,"c.5153-26","c.5153-28_c.5153-25","Yes",-0.17246889624472092]
["BRCA1_c.5153-27_5153-23del","chr17","-","BRCA1","NM_007294","intron 17","c.5153-27_5153-23",41215413,-27,"del",2,"RT-PCR One Step+Seq+Minigene","CFB + Inserm U1245","No","skipping exon 19",1,8.78,8.78,0,82.52,82.52,0,23,0,0,0,0,"NA","NA","NA","NA","c.5153-27","c.5153-29_c.5153-26","Yes","NA","ATGTAAC","CCGTGAA",31,54,7.54870982892873,7.21078257154102,"c.5153-26","c.5153-28_c.5153-25","Yes",-0.0447662269508201,78,73,"cgctgacct","cgctgacct",2.5889795,2.5896952,"c.5153-71","c.5153-73_c.5153-70","No",2.7644096834284073E-4,0,0,0,"No Branch Point motif found in this sequence",-26,-26,0.738092601299,0.77739584446,"c.5153-26","c.5153-28_c.5153-25","Yes",0.053249745481567703,-26,-26,87.61,83.06,"c.5153-26","c.5153-28_c.5153-25","Yes",-0.05193471064946921]
["BRCA1_c.5153-34T>G","chr17","-","BRCA1","NM_007294","intron 17","c.5153-34",41215424,-34,"substitution",1,"s equence","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.78,8.78,0,82.52,82.52,0,34,3,2,1,0,0.910922394084287,0.911484136983092,2.1,2.1,"c.5153-27","c.5153-29_c.5153-26","No",6.1667481494925727E-4,"ATGTAAC","ATGTAAC",31,31,7.54870982892873,7.5492509937867,"c.5153-26","c.5153-28_c.5153-25","No",7.168971522738552E-5,78,78,"cgctgacct","cgctgacct",2.5889795,2.5845552,"c.5153-71","c.5153-73_c.5153-70","No",-1.7088972701406707E-3,0,0,0,"No Branch Point motif found in this sequence",-26,-26,0.738092601299,0.816466569901,"c.5153-26","c.5153-28_c.5153-25","No",0.10618446582998711,-26,-26,87.61,89.01,"c.5153-26","c.5153-28_c.5153-25","No",0.015979910969067524]
["BRCA1_c.5194-18G>A","chr17","-","BRCA1","NM_007294","intron 18","c.5194-18",41209170,-18,"substitution",1,"RTPCR/minigene","Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine M-P, Killian A, et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. European Journal of Human Genetics [Internet]. 2011 Oct;19(10):1052–8. Available from: https://www.nature.com/articles/ejhg2011100","Yes","no effect",0,9.36,9.18,-0.0192307692307692,90.42,90.42,0,18,2,1,2,0,0.87218890732012,0.890891341148258,0.5,0.1,"c.5194-25","c.5194-27_c.5194-24","No",0.021443099850470354,"TCCTGAT","TCCTGAT",30,30,5.90329558429724,5.57162464182755,"c.5194-25","c.5194-27_c.5194-24","No",-0.05618403106087625,32,32,"tcctgatgg","tcctgatgg",1.4331377,1.2059794,"c.5194-25","c.5194-27_c.5194-24","No",-0.15850416885969865,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-25,-25,0.750548541546,0.785951554775,"c.5194-25","c.5194-27_c.5194-24","No",0.047169518384614924,-25,-25,87.6,86.43,"c.5194-25","c.5194-27_c.5194-24","No",-0.013356164383561502]
["BRCA1_c.5194-18G>T","chr17","-","BRCA1","NM_007294","intron 18","c.5194-18",41209170,-18,"substitution",1,"Paxgene","CFB","No","no effect",0,9.36,9.78,0.044871794871794865,90.42,90.42,0,18,0,0,0,0,"NA","NA","NA","NA","c.5194-25","c.5194-27_c.5194-24","No","NA","TCCTGAT","TCCTGAT",30,30,5.90329558429724,6.56594754104233,"c.5194-25","c.5194-27_c.5194-24","No",0.11225119042111718,32,32,"tcctgatgg","tcctgatgg",1.4331377,1.4916788,"c.5194-25","c.5194-27_c.5194-24","No",0.040848203211736045,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-25,-25,0.750548541546,0.732982218266,"c.5194-25","c.5194-27_c.5194-24","No",-0.02340464647871607,-25,-25,87.6,87.09,"c.5194-25","c.5194-27_c.5194-24","No",-0.005821917808219074]
["BRCA1_c.5278-22C>G","chr17","-","BRCA1","NM_007294","intron 19","c.5278-22",41203156,-22,"substitution",1,"minigene","Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal‐Todd C, et al. Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11. Human Mutation [Internet]. 2018;39(4):515–26. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23390","Yes","no effect",0,13.07,13.07,0,90.72,90.72,{"$f":"(U27-T27)/T27","v":0},22,0,0,0,0,0.267836783920411,0.267836783920411,"NA","NA","c.5278-36","c.5278-38_c.5278-35","No",0,"TTATAAC","TTATAAC",61,61,7.7870748089378,7.78709896498266,"c.5278-56","c.5278-58_c.5278-55","No",3.1020691919724345E-6,63,63,"ttataacta","ttataacta",1.3712941,1.3284622,"c.5278-56","c.5278-58_c.5278-55","No",-0.03123465637312969,70.37,65.44,-0.07005826346454465,"Site broken",-56,-56,0.640423238277,0.639662384987,"c.5278-56","c.5278-58_c.5278-55","No",-1.1880475980961906E-3,-56,-56,56.93,58.84,"c.5278-56","c.5278-58_c.5278-55","No",0.03354997365185322]
["BRCA1_c.5278-27T>G","chr17","-","BRCA1","NM_007294","intron 19","c.5278-27",41203161,-27,"substitution",1,"RT-PCR+Seq","IB","No","no effect",0,13.07,13.07,0,90.72,90.72,{"$f":"(U28-T28)/T28","v":0},27,0,0,0,0,0.267836783920411,0.142300784084946,"NA","NA","c.5278-36","c.5278-38_c.5278-35","No",-0.46870335731319346,"TTATAAC","TTATAAC",61,61,7.7870748089378,7.78708066366925,"c.5278-56","c.5278-58_c.5278-55","No",7.5185247265797e-07,63,63,"ttataacta","ttataacta",1.3712941,1.3191464,"c.5278-56","c.5278-58_c.5278-55","No",-0.038028093317108366,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-56,-56,0.640423238277,0.673482060432,"c.5278-56","c.5278-58_c.5278-55","No",0.051620272624618886,-56,-56,56.93,65.97,"c.5278-56","c.5278-58_c.5278-55","No",0.15879149833128403]
["BRCA1_c.5333-33T>G","chr17","-","BRCA1","NM_007294","intron 20","c.5333-33",41201244,-33,"substitution",1,"RT-PCR+Seq","Inserm U1028","No","no effect",0,8.67,8.67,0,72.46,72.46,{"$f":"(U29-T29)/T29","v":0},33,3,3,0,3,0.632536290073503,0.632536290073503,5.7,5.7,"c.5333-26","c.5333-28_c.5333-25","No",0,"CAGTGAT","CAGTGAT",31,31,5.45610043833347,5.45610618850786,"c.5333-26","c.5333-28_c.5333-25","No",1.0538981924844931E-6,21,21,"atctaaatg","atctaaatg",0.89099216,0.89099216,"c.5333-14","c.5333-16_c.5333-13","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-30,-21,0.562193155289,0.460604667664,"c.5333-30","c.5333-32_c.5333-29","No",-0.18070032811548134,-21,-21,65.92,74.89,"c.5333-21","c.5333-23_c.5333-20","No",0.13607402912621358]
["BRCA1_c.5407-25T>A","chr17","-","BRCA1","NM_007294","intron 21","c.5407-25",41199745,-25,"substitution",2,"RT-PCR One Step+Seq+Minigene","CFB + Inserm U1245","No","skipping exon 23",1,4.86,4.86,0,77.96,77.96,{"$f":"(U30-T30)/T30","v":0},25,1,1,0,0,0.663787022140715,0.663787022140715,0.5,0.5,"c.5407-27","c.5407-29_c.5407-26","No",0,"CTTTGAC","CTTTGAA",40,32,7.28131835413149,5.74456264653803,"c.5407-35","c.5407-37_c.5407-34","No",-0.21105459655139097,42,42,"ctttgacac","ctttgacac",0.77210036,0.62745894,"c.5407-35","c.5407-37_c.5407-34","No",-0.1873349987817646,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-35,-27,0.79682713747,0.440296858549,"c.5407-35","c.5407-37_c.5407-34","No",-0.4474374204335167,-35,-35,88.5,59.31,"c.5407-35","c.5407-37_c.5407-34","No",-0.32983050847457623]
["BRCA1_c.5468-41A>G","chr17","-","BRCA1","NM_007294","intron 22","c.5468-41",41197860,-41,"substitution",1,"Paxgene","CFB","No","no effect",0,9.53,9.53,0,89.06,89.06,0,41,0,0,0,0,"NA","NA","NA","NA","c.5468-27","c.5468-29_c.5468-26","No","NA","CACTAAT","CACTAAT",32,32,6.5848552563244,6.45625114222073,"c.5468-27","c.5468-29_c.5468-26","No",-0.019530287166168527,34,34,"cactaatct","cactaatct",1.8783949,1.8783949,"c.5468-27","c.5468-29_c.5468-26","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-27,-27,0.664311170578,0.690584361553,"c.5468-27","c.5468-29_c.5468-26","No",0.03954952458821412,-27,-27,78.68,76.46,"c.5468-27","c.5468-29_c.5468-26","No",-0.02821555668530774]
["BRCA1_c.548-18T>G","chr17","-","BRCA1","NM_007294","intron 7","c.548-18",41249324,-18,"substitution",1,"RT-PCR One Step+Seq+Minigene","CFB","No","no effect",0,2.82,1.88,-0.3333333333333333,67.7,67.7,{"$f":"(U32-T32)/T32","v":0},18,2,2,0,2,0.680175531683864,0.680175531683864,1.5,1.5,"c.548-24","c.548-26_c.548-23","No",0,"TATTGAT","TTTTAAT",33,52,5.01212408440849,5.1978399351203,"c.548-28","c.548-30_c.548-27","No",0.03705332262014974,63,63,"ttttaaccc","ttttaaccc",1.3674838,1.3619153,"c.548-56","c.548-58_c.548-55","No",-4.0720774900588124E-3,0,0,0,"No Branch Point motif found in this sequence",-28,-28,0.805842459202,0.791762948036,"c.548-28","c.548-30_c.548-27","No",-0.017471791173602993,-28,-28,67.15,62.09,"c.548-28","c.548-30_c.548-27","No",-0.07535368577810873]
["BRCA1_c.594-20A>G","chr17","-","BRCA1","NM_007294","intron 8","c.594-20",41247959,-20,"substitution",1,"RT-PCR+Seq","IC","No","no effect",0,10,9.45,-0.05500000000000007,83.3,83.3,0,20,1,1,0,0,0.944718550100622,0.944718550100622,0.5,0.5,"c.594-26","c.594-28_c.594-25","No",0,"TTCTTAT","TTCTTAT",31,31,5.55928196828166,5.55928342601406,"c.594-26","c.594-28_c.594-25","No",2.6221594962877924E-7,46,46,"atgtaacta","atgtaacta",0.7556291,0.7556291,"c.594-39","c.594-41_c.594-38","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-26,-26,0.962181806564,0.963423371315,"c.594-26","c.594-28_c.594-25","No",1.2903639858185465E-3,-26,-26,97.78,97.7,"c.594-26","c.594-28_c.594-25","No",-8.1816322356308342E-4]
["BRCA1_c.594-34T>C","chr17","-","BRCA1","NM_007294","intron 8","c.594-34",41247973,-34,"substitution",2,"RT PCR One Step + seq","Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, et al. Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction. PLOS ONE [Internet]. 2012 Dec 11;7(12):e50800. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050800","Yes","no effect",0,10,10,0,83.3,83.3,0,34,1,1,0,0,0.944718550100622,0.959186806163763,0.5,0.4,"c.594-26","c.594-28_c.594-25","No",0.015314885117477512,"TTCTTAT","TTCTTAT",31,31,5.55928196828166,5.55928196829235,"c.594-26","c.594-28_c.594-25","No",1.922930968514079e-12,46,46,"atgtaacta","atgtaacta",0.7556291,0.74631325,"c.594-39","c.594-41_c.594-38","No",-0.012328601426281775,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-26,-26,0.962181806564,0.961923539639,"c.594-26","c.594-28_c.594-25","No",-2.6841800919335276E-4,-26,-26,97.78,97.42,"c.594-26","c.594-28_c.594-25","No",-0.003681734506033948]
["BRCA1_c.81-18C>A","chr17","-","BRCA1","NM_007294","intron 2","c.81-18",41267814,-18,"substitution",1,"minigene","Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine M-P, Killian A, et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. European Journal of Human Genetics [Internet]. 2011 Oct;19(10):1052–8. Available from: https://www.nature.com/articles/ejhg2011100","Yes","no effect",0,7.05,6.23,-0.11631205673758857,71.94,71.94,0,18,2,2,0,0,0.751900840564841,0.751900840564841,0.7,0.7,"c.81-35","c.81-37_c.81-34","No",0,"GCCTCAT","GCCTCAT",40,40,4.89684247281991,4.49077078313977,"c.81-35","c.81-37_c.81-34","No",-0.08292520985391182,42,42,"gcctcattt","gcctcattt",1.2680694,1.2220771,"c.81-35","c.81-37_c.81-34","No",-0.03626954486875875,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-41,-41,0.57845813036,0.575637042522,"c.81-41","c.81-43_c.81-40","No",-0.004876909304126075,-35,-35,77.71,75.13,"c.81-35","c.81-37_c.81-34","No",-0.03320036031398788]
["BRCA1_c.81-20C>T","chr17","-","BRCA1","NM_007294","intron 2","c.81-20",41267816,-20,"substitution",1,"RTPCR","Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, et al. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation [Internet]. 2011;32(6):678–87. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21495","Yes","no effect",0,7.05,7.05,0,71.94,71.94,0,20,2,2,0,0,0.751900840564841,0.751900840564841,0.7,0.7,"c.81-35","c.81-37_c.81-34","No",0,"GCCTCAT","GCCTCAT",40,40,4.89684247281991,5.13545233910362,"c.81-35","c.81-37_c.81-34","No",0.04872729061800989,42,42,"gcctcattt","gcctcattt",1.2680694,1.2773853,"c.81-35","c.81-37_c.81-34","No",0.007346522201387436,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-41,-35,0.57845813036,0.556043148041,"c.81-41","c.81-43_c.81-40","No",-0.03874953284008688,-35,-35,77.71,77.6,"c.81-35","c.81-37_c.81-34","No",-1.4155192381932755E-3]
["BRCA2_c.-39-26G>A","chr13","+","BRCA2","NM_000059","intron 1","c.-39-26",32890533,-26,"substitution",1,"RTPCR","Garibay GR de, Acedo A, García‐Casado Z, Gutiérrez‐Enríquez S, Tosar A, Romero A, et al. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants. Human Mutation [Internet]. 2014;35(1):53–7. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22456","Yes","no effect",0,9.79,9.79,{"$f":"(R37-Q37)/Q37","v":0},91.36,91.36,0,26,2,3,0,1,0.77611899768824,0.773120029380429,1.7,1.7,"c.-39-27",{"$f":"IF(FIND(\"-\",AF37)=3,\"c.-\"&MID(AF37,FIND(\"-\",AF37)+1,FIND(\"-\",MID(AF37,FIND(\"-\",AF37)+1,LEN(AF37))))&VALUE(RIGHT(AF37,2))+2&\"_\"&\"c.-\"&MID(AF37,FIND(\"-\",AF37)+1,FIND(\"-\",MID(AF37,FIND(\"-\",AF37)+1,LEN(AF37))))&VALUE(RIGHT(AF37,2))-1,MID(AF37,1,FIND(\"-\",AF37))&VALUE(RIGHT(AF37,2))+2&\"_\"&MID(AF37,1,FIND(\"-\",AF37))&VALUE(RIGHT(AF37,2))-1)","v":"c.-39-29_c.-39-26"},{"$f":"IF(AND(VALUE(RIGHT(G37,2))>=VALUE(RIGHT(AG37,2)),VALUE(RIGHT(G37,2))<=VALUE(MID(AG37,FIND(\"_\",AG37)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G37))),IF(OR(AND(VALUE(RIGHT(G37,2))<VALUE(RIGHT(AG37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(MID(AG37,FIND(\"_\",AG37)-2,2))),AND(VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(RIGHT(AG37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))<=VALUE(MID(AG37,FIND(\"_\",AG37)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(AB37=\"NA\",\"NA\",(AC37-AB37)/AB37)","v":-0.003864057337526543},"GTGTAAG","GTGTAAA",32,32,5.91607978309959,7.23513558827706,"c.-39-27",{"$f":"IF(FIND(\"-\",AP37)=3,\"c.-\"&MID(AP37,FIND(\"-\",AP37)+1,FIND(\"-\",MID(AP37,FIND(\"-\",AP37)+1,LEN(AP37))))&VALUE(RIGHT(AP37,2))+2&\"_\"&\"c.-\"&MID(AP37,FIND(\"-\",AP37)+1,FIND(\"-\",MID(AP37,FIND(\"-\",AP37)+1,LEN(AP37))))&VALUE(RIGHT(AP37,2))-1,MID(AP37,1,FIND(\"-\",AP37))&VALUE(RIGHT(AP37,2))+2&\"_\"&MID(AP37,1,FIND(\"-\",AP37))&VALUE(RIGHT(AP37,2))-1)","v":"c.-39-29_c.-39-26"},{"$f":"IF(AND(VALUE(RIGHT(G37,2))>=VALUE(RIGHT(AQ37,2)),VALUE(RIGHT(G37,2))<=VALUE(MID(AQ37,FIND(\"_\",AQ37)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G37))),IF(OR(AND(VALUE(RIGHT(G37,2))<VALUE(RIGHT(AQ37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(MID(AQ37,FIND(\"_\",AQ37)-2,2))),AND(VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(RIGHT(AQ37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))<=VALUE(MID(AQ37,FIND(\"_\",AQ37)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"(AO37-AN37)/AN37","v":0.22296112519401845},76,76,"ttctgagtt","ttctgagtt",0.83842013,0.83842013,"c.-39-69",{"$f":"IF(FIND(\"-\",AZ37)=3,\"c.-\"&MID(AZ37,FIND(\"-\",AZ37)+1,FIND(\"-\",MID(AZ37,FIND(\"-\",AZ37)+1,LEN(AZ37))))&VALUE(RIGHT(AZ37,2))+2&\"_\"&\"c.-\"&MID(AZ37,FIND(\"-\",AZ37)+1,FIND(\"-\",MID(AZ37,FIND(\"-\",AZ37)+1,LEN(AZ37))))&VALUE(RIGHT(AZ37,2))-1,MID(AZ37,1,FIND(\"-\",AZ37))&VALUE(RIGHT(AZ37,2))+2&\"_\"&MID(AZ37,1,FIND(\"-\",AZ37))&VALUE(RIGHT(AZ37,2))-1)","v":"c.-39-71_c.-39-68"},{"$f":"IF(AND(VALUE(RIGHT(G37,2))>=VALUE(RIGHT(BA37,2)),VALUE(RIGHT(G37,2))<=VALUE(MID(BA37,FIND(\"_\",BA37)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G37))),IF(OR(AND(VALUE(RIGHT(G37,2))<VALUE(RIGHT(BA37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(MID(BA37,FIND(\"_\",BA37)-2,2))),AND(VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(RIGHT(BA37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))<=VALUE(MID(BA37,FIND(\"_\",BA37)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},{"$f":"(AY37-AX37)/AX37","v":0},"NA","NA","NA","NA",-27,-27,0.600097119808,0.487603962421,"c.-39-27",{"$f":"IF(FIND(\"-\",BL37)=3,\"c.-\"&MID(BL37,FIND(\"-\",BL37)+1,FIND(\"-\",MID(BL37,FIND(\"-\",BL37)+1,LEN(BL37))))&VALUE(RIGHT(BL37,2))+2&\"_\"&\"c.-\"&MID(BL37,FIND(\"-\",BL37)+1,FIND(\"-\",MID(BL37,FIND(\"-\",BL37)+1,LEN(BL37))))&VALUE(RIGHT(BL37,2))-1,MID(BL37,1,FIND(\"-\",BL37))&VALUE(RIGHT(BL37,2))+2&\"_\"&MID(BL37,1,FIND(\"-\",BL37))&VALUE(RIGHT(BL37,2))-1)","v":"c.-39-29_c.-39-26"},{"$f":"IF(AND(VALUE(RIGHT(G37,2))>=VALUE(RIGHT(BM37,2)),VALUE(RIGHT(G37,2))<=VALUE(MID(BM37,FIND(\"_\",BM37)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G37))),IF(OR(AND(VALUE(RIGHT(G37,2))<VALUE(RIGHT(BM37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(MID(BM37,FIND(\"_\",BM37)-2,2))),AND(VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(RIGHT(BM37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))<=VALUE(MID(BM37,FIND(\"_\",BM37)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BJ37=\"\",\"NA\",(BK37-BJ37)/BJ37)","v":-0.1874582524625213},-27,-27,52.72,32.16,"c.-39-27",{"$f":"IF(FIND(\"-\",BT37)=3,\"c.-\"&MID(BT37,FIND(\"-\",BT37)+1,FIND(\"-\",MID(BT37,FIND(\"-\",BT37)+1,LEN(BT37))))&VALUE(RIGHT(BT37,2))+2&\"_\"&\"c.-\"&MID(BT37,FIND(\"-\",BT37)+1,FIND(\"-\",MID(BT37,FIND(\"-\",BT37)+1,LEN(BT37))))&VALUE(RIGHT(BT37,2))-1,MID(BT37,1,FIND(\"-\",BT37))&VALUE(RIGHT(BT37,2))+2&\"_\"&MID(BT37,1,FIND(\"-\",BT37))&VALUE(RIGHT(BT37,2))-1)","v":"c.-39-29_c.-39-26"},{"$f":"IF(AND(VALUE(RIGHT(G37,2))>=VALUE(RIGHT(BU37,2)),VALUE(RIGHT(G37,2))<=VALUE(MID(BU37,FIND(\"_\",BU37)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G37))),IF(OR(AND(VALUE(RIGHT(G37,2))<VALUE(RIGHT(BU37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(MID(BU37,FIND(\"_\",BU37)-2,2))),AND(VALUE(MID(G37,FIND(\"_\",G37)-2,2))>=VALUE(RIGHT(BU37,2)),VALUE(MID(G37,FIND(\"_\",G37)-2,2))<=VALUE(MID(BU37,FIND(\"_\",BU37)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BR37=\"\",\"NA\",(BS37-BR37)/BR37)","v":-0.38998482549317154}]
["BRCA2_c.-39-36C>G","chr13","+","BRCA2","NM_000059","intron 1","c.-39-36",32890523,-36,"substitution",1,"PAXgene","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,9.79,9.79,0,91.36,91.36,0,36,2,2,0,0,0.77611899768824,0.77611899768824,1.7,1.7,"c.-39-27","c.-39-29_c.-39-26","No",0,"GTGTAAG","GTGTAAG",32,32,5.91607978309959,5.91607978309958,"c.-39-27","c.-39-29_c.-39-26","No",-1.8015546488822742E-15,76,76,"ttctgagtt","ttctgagtt",0.83842013,0.83387126,"c.-39-69","c.-39-71_c.-39-68","No",-0.005425525744473762,"NA","NA","NA","NA",-27,-27,0.600097119808,0.594886004925,"c.-39-27","c.-39-29_c.-39-26","No",-0.008683785858974386,-27,-22,52.72,50.05,"c.-39-27","c.-39-29_c.-39-26","No",-0.05064491654021248]
["BRCA2_c.426-22G>T","chr13","+","BRCA2","NM_000059","intron 4","c.426-22",32900216,-22,"substitution",1,"RT-PCR+Seq","Thomassen M, Blanco A, Montagna M, Hansen TVO, Pedersen IS, Gutiérrez-Enríquez S, et al. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat [Internet]. 2012 Apr 1;132(3):1009–23. Available from: https://doi.org/10.1007/s10549-011-1674-0","Yes","no effect",0,8.99,8.99,0,84.65,84.65,0,22,3,3,0,0,0.88336478231947,0.88336478231947,1.2,1.2,"c.426-25","c.426-27_c.426-24","No",0,"AAATAAC","AAATAAC",35,35,5.68345444675212,5.68345971617505,"c.426-30","c.426-32_c.426-29","No",9.27151432173446e-07,37,37,"aaataacct","aaataacct",0.99806505,1.1440704,"c.426-30","c.426-32_c.426-29","No",0.14628841076040075,0,0,{"$f":"IF(BD39=0,0,(BE39-BD39)/BD39)","v":0},"No difference between mutant and reference sequence was found with this matrice",-25,-30,0.421032428741,0.427479237318,"c.426-25","c.426-27_c.426-24","No",0.015311905062224584,-25,-30,63.99,64.85,"c.426-25","c.426-27_c.426-24","No",0.013439599937490113]
["BRCA2_c.426-24G>A","chr13","+","BRCA2","NM_000059","intron 4","c.426-24",32900214,-24,"substitution",1,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.99,8.99,0,84.65,84.65,0,24,3,3,2,0,0.88336478231947,0.858150118003144,1.2,1.2,"c.426-25","c.426-27_c.426-24","Yes",-0.028543886762294652,"AAATAAC","AAATAAC",35,35,5.68345444675212,5.40123453608711,"c.426-30","c.426-32_c.426-29","No",-0.049656404095274775,37,37,"aaataacct","aaataacct",0.99806505,0.99806505,"c.426-30","c.426-32_c.426-29","No",0,81.2,77.31,-0.0479064039408867,null,-25,-25,0.421032428741,0.56086575985,"c.426-25","c.426-27_c.426-24","Yes",0.33212009708406354,-25,-25,63.99,62.45,"c.426-25","c.426-27_c.426-24","Yes",-0.02406626035318017]
["BRCA2_c.426-37T>A","chr13","+","BRCA2","NM_000059","intron 4","c.426-37",32900201,-37,"substitution",1,"RTPCR","Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, et al. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation [Internet]. 2011;32(6):678–87. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21495","Yes","no effect",0,8.99,8.99,0,84.65,84.65,0,37,3,3,2,0,0.88336478231947,0.896333220562049,1.2,1.2,"c.426-25","c.426-27_c.426-24","No",0.014680728168183787,"AAATAAC","AAATAAC",35,35,5.68345444675212,5.68345444675212,"c.426-30","c.426-32_c.426-29","No",0,37,37,"aaataacct","aaataacct",0.99806505,0.99806505,"c.426-30","c.426-32_c.426-29","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-25,-25,0.421032428741,0.416211009026,"c.426-25","c.426-27_c.426-24","No",-0.01145142128224502,-25,-25,63.99,61.06,"c.426-25","c.426-27_c.426-24","No",-0.04578840443819346]
["BRCA2_c.476-24A>G","chr13","+","BRCA2","NM_000059","intron 5","c.476-24",32900355,-24,"substitution",1,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012 ;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,10.49,10.49,0,90.03,90.03,0,24,2,2,1,0,0.874531621461029,0.874531621461029,2.9,2.9,"c.476-27","c.476-29_c.476-26","No",0,"ACTTAAC","ACTTAAC",32,32,7.23870073091965,5.69883131966314,"c.476-27","c.476-29_c.476-26","No",-0.21272732061971505,34,34,"acttaacaa","acttaacag",0.59027026,0.81824193,"c.476-27","c.476-29_c.476-26","No",0.3862157480202373,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-28,-28,0.580620586872,0.64412176609,"c.476-28","c.476-30_c.476-27","No",0.10936777071598927,-28,-28,76.57,74.68,"c.476-28","c.476-30_c.476-27","No",-0.024683296330155237]
["BRCA2_c.517-19C>T","chr13","+","BRCA2","NM_000059","intron 6","c.517-19",32900617,-19,"substitution",3,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,10,9.82,-0.01799999999999997,95.68,95.68,0,19,0,1,0,1,0.488909954021524,0.535302363671215,"NA",0.2,"c.517-29","c.517-31_c.517-28","No",0.09488947661648262,"AAATAAA","AAATAAA",26,26,6.53651210530508,6.47465393675378,"c.517-21","c.517-23_c.517-20","No",-0.009463482596642859,28,28,"aaataaact","aaataaatt",0.67797322,0.33855195,"c.517-21","c.517-23_c.517-20","No",-0.5006411167685946,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-29,-29,0.754932940006,0.776183247566,"c.517-29","c.517-31_c.517-28","No",0.028148602920719187,-29,-29,86.25,86.63,"c.517-29","c.517-31_c.517-28","No",0.004405797101449223]
["BRCA2_c.517-20A>G","chr13","+","BRCA2","NM_000059","intron 6","c.517-20",32900616,-20,"substitution",2,"RT-PCR One Step +Seq","Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine M-P, Killian A, et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. European Journal of Human Genetics [Internet]. 2011 Oct;19(10):1052–8. Available from: https://www.nature.com/articles/ejhg2011100","Yes","no effect",0,10,8.98,-0.10199999999999995,95.68,95.68,0,20,0,0,0,0,0.488909954021524,0.491542050899751,"NA","NA","c.517-29","c.517-31_c.517-28","No",0.005383602556210469,"AAATAAA","AAATAAG",26,26,6.53651210530508,4.02922412927433,"c.517-21","c.517-23_c.517-20","Yes",-0.3835819372224244,28,28,"aaataaact","aaataagct",0.67797322,0.60174926,"c.517-21","c.517-23_c.517-20","Yes",-0.11242916055002893,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-29,-21,0.754932940006,0.467204064131,"c.517-29","c.517-31_c.517-28","No",-0.3811317014100791,-29,-29,86.25,60.95,"c.517-29","c.517-31_c.517-28","No",-0.2933333333333333]
["BRCA2_c.632-44A>T","chr13","+","BRCA2","NM_000059","intron 7","c.632-44",32903536,-44,"substitution",1,"RT-PCR One Step +Seq","CFB","No","no effect",0,8.03,8.03,0,92.6,92.6,0,44,0,0,0,0,0.44587584880339,0.44587584880339,"NA","NA","c.632-26","c.632-28_c.632-25","No",0,"TGATAAT","TGATAAT",37,37,6.06868891267612,6.06868887981666,"c.632-32","c.632-34_c.632-31","No",-5.4145896279504733E-9,70,70,"gtctgacaa","gtctgacaa",0.79097254,0.84252054,"c.632-63","c.632-65_c.632-62","No",0.06517040401933553,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-23,-28,0.276755839586,0.282514452934,"c.632-23","c.632-25_c.632-22","No",0.020807558592492108,-23,-23,56.16,57.72,"c.632-23","c.632-25_c.632-22","No",0.02777777777777782]
["BRCA2_c.682-30A>C","chr13","+","BRCA2","NM_000059","intron 8","c.682-30",32905026,-30,"substitution",1,"RT-PCR+Seq","IGR","No","no effect",0,7.06,7.06,0,87.51,87.51,0,30,1,1,0,0,0.706539058307857,0.706539058307857,1.3,1.3,"c.682-23","c.682-25_c.682-22","No",0,"TAGTGAT","TAGTGAT",28,28,5.80774143650828,5.80776456567744,"c.682-23","c.682-25_c.682-22","No",3.9824722591955653E-6,17,17,"ctataattt","ctataattt",0.28468078,0.28468078,"c.682-10","c.682-12_c.682-9","No",0,0,0,0,"No Branch Point motif found in this sequence",-27,-23,0.731860101223,0.555989861488,"c.682-27","c.682-29_c.682-26","No",-0.24030581724718428,-27,-27,86.44,68.36,"c.682-27","c.682-29_c.682-26","No",-0.20916242480333178]
["BRCA2_c.682-32A>G","chr13","+","BRCA2","NM_000059","intron 8","c.682-32",32905024,-32,"substitution",1,"RT-PCR+Seq","IB","No","no effect",0,7.06,7.06,0,87.51,87.51,0,32,1,1,0,0,0.706539058307857,0.706539058307857,1.3,1.3,"c.682-23","c.682-25_c.682-22","No",0,"TAGTGAT","TAGTGAT",28,28,5.80774143650828,5.81857920082395,"c.682-23","c.682-25_c.682-22","No",0.001866089328209782,17,17,"ctataattt","ctataattt",0.28468078,0.28468078,"c.682-10","c.682-12_c.682-9","No",0,0,0,0,"No Branch Point motif found in this sequence",-27,-27,0.731860101223,0.762973070145,"c.682-27","c.682-29_c.682-26","No",0.04251218077062487,-27,-27,86.44,88.51,"c.682-27","c.682-29_c.682-26","No",0.023947246645071814]
["BRCA2_c.6842-20T>A","chr13","+","BRCA2","NM_000059","intron 11","c.6842-20",32918675,-20,"substitution",3,"RT-PCR+Seq","Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, et al. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat [Internet]. 2012 Apr 1;132(3):979–92. Available from: https://doi.org/10.1007/s10549-011-1661-5","Yes","no effect",0,8.23,7.44,-0.0959902794653706,89.91,89.91,0,20,1,0,1,0,0.703339422947907,0.400988358981081,0.2,"NA","c.6842-29","c.6842-31_c.6842-28","No",-0.42987930734720053,"CCTTAAA","AAATGAA",33,21,6.55828192348963,5.56423014451437,"c.6842-28","c.6842-30_c.6842-27","No",-0.15157198037109237,50,50,"aactgatat","aactgatat",0.94138017,0.93420305,"c.6842-43","c.6842-45_c.6842-42","No",-0.007624039924274086,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-29,-23,0.480360150337,0.481425702572,"c.6842-29","c.6842-31_c.6842-28","No",2.2182361177388327E-3,-23,-23,58.03,73.59,"c.6842-23","c.6842-25_c.6842-22","No",0.2681371704290884]
["BRCA2_c.6938-26T>C","chr13","+","BRCA2","NM_000059","intron 12","c.6938-26",32920938,-26,"substitution",1,"PAXgene","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,5.54,5.54,0,82.7,82.7,0,26,2,2,0,0,0.850471793169596,0.851331069928565,5.1,5.1,"c.6938-29","c.6938-31_c.6938-28","No",0.001010353036832189,"AACTAAT","AACTAAT",34,34,6.85163197000273,6.81735850942494,"c.6938-29","c.6938-31_c.6938-28","No",-5.002233150852708E-3,64,64,"cagtaacat","cagtaacat",0.96438128,0.96438128,"c.6938-57","c.6938-59_c.6938-56","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-29,-29,0.597389280796,0.751119077206,"c.6938-29","c.6938-31_c.6938-28","No",0.25733604761900075,-29,-29,76.9,78.89,"c.6938-29","c.6938-31_c.6938-28","No",0.025877763328998632]
["BRCA2_c.7008-24_7008-23del","chr13","+","BRCA2","NM_000059","intron 13","c.7008-24_7008-23",32928975,-23,"del",1,"RT-PCR+Seq","IGR","No","no effect",0,10.37,10.37,0,84.19,84.19,0,23,0,0,0,0,"NA","NA","NA","NA","c.7008-22","c.7008-24_c.7008-21","Yes","NA","CAATAAA","CAATAAA",32,30,4.5757219536326,6.22989750126316,"c.7008-27","c.7008-29_c.7008-26","No",0.3615113777438626,60,58,"tcctaaata","tcctaaata",0.64168297,0.63680794,"c.7008-53","c.7008-55_c.7008-52","No",-0.007597256321139398,85.55,40.73,-0.5239041496201052,"Site broken",-22,-25,0.64450275898,0.436663240194,"c.7008-22","c.7008-24_c.7008-21","Yes",-0.32248041748483747,-22,-33,79.1,38.46,"c.7008-22","c.7008-24_c.7008-21","Yes",-0.51378002528445]
["BRCA2_c.7008-44A>G","chr13","+","BRCA2","NM_000059","intron 13","c.7008-44",32928954,-44,"substitution",1,"LCL with puromycin","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,10.37,10.37,0,84.19,84.19,0,44,1,2,0,0,0.759872571806532,0.770639800012197,0.8,0.9,"c.7008-22","c.7008-24_c.7008-21","No",0.014169781362244513,"CAATAAA","CAATAAA",32,32,4.5757219536326,4.5757219536326,"c.7008-27","c.7008-29_c.7008-26","No",0,60,60,"tcctaaata","tcctaaata",0.64168297,0.6696305,"c.7008-53","c.7008-55_c.7008-52","No",0.04355348560987999,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-22,-22,0.64450275898,0.634349942207,"c.7008-22","c.7008-24_c.7008-21","No",-0.015752945400990922,-22,-22,79.1,79.76,"c.7008-22","c.7008-24_c.7008-21","No",0.00834386852085981]
["BRCA2_c.7008-44A>T","chr13","+","BRCA2","NM_000059","intron 13","c.7008-44",32928954,-44,"substitution",1,"O, RT PCR One Step + s equence ","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,10.37,10.37,0,84.19,84.19,0,44,1,1,0,0,0.759872571806532,0.759872571806532,0.8,0.8,"c.7008-22","c.7008-24_c.7008-21","No",0,"CAATAAA","CAATAAA",32,32,4.5757219536326,4.5757219536326,"c.7008-27","c.7008-29_c.7008-26","No",0,60,60,"tcctaaata","tcctaaata",0.64168297,0.72208191,"c.7008-53","c.7008-55_c.7008-52","No",0.12529386591013944,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-22,-22,0.64450275898,0.633938968182,"c.7008-22","c.7008-24_c.7008-21","No",-0.016390606014966298,-22,-22,79.1,79.98,"c.7008-22","c.7008-24_c.7008-21","No",0.011125158027813019]
["BRCA2_c.7436-22C>T","chr13","+","BRCA2","NM_000059","intron 14","c.7436-22",32930543,-22,"substitution",1,"Paxgene","CFB","No","no effect",0,5.16,5.16,0,83.71,83.71,0,22,2,2,0,0,0.716894467059219,0.716894467059219,3.2,3.2,"c.7436-19","c.7436-21_c.7436-18","No",0,"TGCTAAG","TGTTAAG",24,24,5.19592764628168,5.14797570681591,"c.7436-19","c.7436-21_c.7436-18","No",-0.009228754272605189,26,26,"tgctaagta","tgttaagta",0.92750271,0.32947512,"c.7436-19","c.7436-21_c.7436-18","No",-0.6447717980252585,79.34,55.5,-0.3004789513486262,"Site broken",-19,-19,0.669894993305,0.571821570396,"c.7436-19","c.7436-21_c.7436-18","No",-0.14640118808045433,-19,-19,80.2,68.27,"c.7436-19","c.7436-21_c.7436-18","No",-0.14875311720698262]
["BRCA2_c.7618-22T>C","chr13","+","BRCA2","NM_000059","intron 15","c.7618-22",32931857,-22,"substitution",1,"RT-PCR one step +Seq","CPS","No","no effect",0,7.11,7.11,0,84.47,84.47,{"$f":"(U54-T54)/T54","v":0},22,1,1,0,0,0.559029714168488,0.524212790786488,0.8,0.9,"c.7618-39","c.7618-41_c.7618-38","No",-0.06228098882684158,"TGTTTAC","TGTTTAC",49,49,6.39724171402867,6.34752998100462,"c.7618-44","c.7618-46_c.7618-43","No",-0.007770807364529567,61,61,"gtgtgatac","gtgtgatac",0.6207079,0.6207079,"c.7618-54","c.7618-56_c.7618-53","No",0,0,0,0,"No Branch Point motif found in this sequence",-39,-39,0.600164473057,0.598952174187,"c.7618-39","c.7618-41_c.7618-38","No",-2.0199444059477603E-3,-39,-39,76.81,76.35,"c.7618-39","c.7618-41_c.7618-38","No",-0.005988803541205676]
["BRCA2_c.7618-37A>G","chr13","+","BRCA2","NM_000059","intron 15","c.7618-37",32931842,-37,"substitution",1,"RT-PCR+Seq","IB","No","no effect",0,7.11,7.11,0,84.47,84.47,{"$f":"(U55-T55)/T55","v":0},37,1,0,1,0,0.559029714168488,0.375402652387324,0.8,"NA","c.7618-39","c.7618-41_c.7618-38","No",-0.328474600056447,"TGTTTAC","TGTTTAC",49,49,6.39724171402867,6.0847475821337,"c.7618-44","c.7618-46_c.7618-43","No",-0.04884826083868215,61,61,"gtgtgatac","gtgtgatac",0.6207079,0.6207079,"c.7618-54","c.7618-56_c.7618-53","No",0,0,0,0,"No Branch Point motif found in this sequence",-39,-39,0.600164473057,0.742453992367,"c.7618-39","c.7618-41_c.7618-38","No",0.2370842089089905,-39,-39,76.81,90.01,"c.7618-39","c.7618-41_c.7618-38","No",0.17185262335633383]
["BRCA2_c.7806-40A>G","chr13","+","BRCA2","NM_000059","intron 16","c.7806-40",32936620,-40,"substitution",3,"O par  etude d UV à distance, RT PCR One Step + s equence + test monoall elique cassette Rouen","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.33,8.33,0,98.6,98.6,{"$f":"(U56-T56)/T56","v":0},40,1,1,0,0,0.594666781361271,0.533155536256166,2.5,2.5,"c.7806-29","c.7806-31_c.7806-28","No",-0.10343817249098343,"TGATAAT","TGATAAT",28,28,6.99509285129323,6.99419289761958,"c.7806-23","c.7806-25_c.7806-22","No",-1.2865500040981314E-4,30,30,"tgataatat","tgataatat",0.72490898,0.72490898,"c.7806-23","c.7806-25_c.7806-22","No",0,67.63,38,-0.43811917787963917,"Site broken",-29,-29,0.52476555109,0.508191406727,"c.7806-29","c.7806-31_c.7806-28","No",-0.03158390318985978,-29,-29,44.15,42.16,"c.7806-29","c.7806-31_c.7806-28","No",-0.045073612684031754]
["BRCA2_c.794-18del","chr13","+","BRCA2","NM_000059","intron 9","c.794-18",32906391,-18,"del",1,"RT-PCR+Seq","IB","No","no effect",0,9.62,8.59,-0.107068607068607,89.21,89.21,{"$f":"(U57-T57)/T57","v":0},18,2,2,0,0,0.863348296075942,0.863348296075942,1.8,1.8,"c.794-27","c.794-29_c.794-26","No",0,"TATTAAT","TATTAAT",32,31,8.03899167602786,7.67940949889192,"c.794-27","c.794-29_c.794-26","No",-0.04472976109780139,34,33,"tattaatgt","tattaatgt",1.1234697,1.091147,"c.794-27","c.794-29_c.794-26","No",-0.0287704243381018,0,0,0,"No Branch Point motif found in this sequence",-27,-26,0.839282631874,0.825404465199,"c.794-27","c.794-29_c.794-26","No",-0.016535748683386878,-27,-26,85.21,83.51,"c.794-27","c.794-29_c.794-26","No",-0.01995071001056201]
["BRCA2_c.8633-26A>G","chr13","+","BRCA2","NM_000059","intron 20","c.8633-26",32950781,-26,"substitution",1,"Paxgene","CFB","No","no effect",0,6.97,6.97,0,86.09,86.09,0,26,2,2,0,1,0.654081891143966,0.654081891143966,2.5,2.5,"c.8633-21","c.8633-23_c.8633-20","No",0,"AATTAAT","GATTAAT",26,26,4.69447916292254,4.74615837816615,"c.8633-21","c.8633-23_c.8633-20","No",0.011008508814306402,25,25,"taataatcc","taataatcc",1.0921396,1.0921396,"c.8633-18","c.8633-20_c.8633-17","No",0,0,0,0,"No Branch Point motif found in this sequence",-26,-25,0.562173783779,0.517733991146,"c.8633-26","c.8633-28_c.8633-25","Yes",-0.07904991999852833,-26,-21,50.05,60.02,"c.8633-26","c.8633-28_c.8633-25","Yes",0.19920079920079933]
["BRCA2_c.8633-30A>G","chr13","+","BRCA2","NM_000059","intron 20","c.8633-30",32950777,-30,"substitution",1,"RT-PCR+Seq","Inserm U1028","No","no effect",0,6.97,6.97,0,86.09,86.09,{"$f":"(U59-T59)/T59","v":0},30,2,2,0,1,0.654081891143966,0.893867858767907,2.5,2.6,"c.8633-21","c.8633-23_c.8633-20","No",0.366599306402695,"AATTAAT","AATTAAT",26,26,4.69447916292254,5.04468269344589,"c.8633-21","c.8633-23_c.8633-20","No",0.07459901692381389,25,25,"taataatcc","taataatcc",1.0921396,1.0921396,"c.8633-18","c.8633-20_c.8633-17","No",0,0,0,0,"No Branch Point motif found in this sequence",-26,-25,0.562173783779,0.413260549307,"c.8633-26","c.8633-28_c.8633-25","No",-0.2648882583442209,-26,-26,50.05,48.53,"c.8633-26","c.8633-28_c.8633-25","No",-0.030369630369630293]
["BRCA2_c.9257-18C>A","chr13","+","BRCA2","NM_000059","intron 24","c.9257-18",32968808,-18,"substitution",1,"RTPCR","Chen X, Truong T-TN, Weaver J, Bove BA, Cattie K, Armstrong BA, et al. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Human Mutation [Internet]. 2006;27(5):427–35. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.20319","Yes","no effect",0,13.32,13.17,-0.011261261261261288,90.93,90.93,{"$f":"(U60-T60)/T60","v":0},"NA","NA","NA","NA","NA","NA","NA","NA","NA","c.9257-NA","NA","NA","NA","TAATAAC","TAATAAC",33,33,7.68868536354385,8.48839463230126,"c.9257-28","c.9257-30_c.9257-27","No",0.10401118408996907,35,35,"taataacat","taataacat",1.52267,1.4746409,"c.9257-28","c.9257-30_c.9257-27","No",-0.03154268488904355,0,0,0,"No Branch Point motif found in this sequence",-28,-28,0.409978628159,0.428164660931,"c.9257-28","c.9257-30_c.9257-27","No",0.04435848974290187,-28,-28,57.01,58.09,"c.9257-28","c.9257-30_c.9257-27","No",0.01894404490440283]
["BRCA2_c.9649-20C>T","chr13","+","BRCA2","NM_000059","intron 26","c.9649-20",32972279,-20,"substitution",3,"RTPCR","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.54,8.8,0.030444964871194566,91.4,91.4,{"$f":"(U61-T61)/T61","v":0},20,1,1,1,0,0.636084902454437,0.603133512431461,1.1,1.1,"c.9649-28",{"$f":"IF(FIND(\"-\",AF61)=3,\"c.-\"&MID(AF61,FIND(\"-\",AF61)+1,FIND(\"-\",MID(AF61,FIND(\"-\",AF61)+1,LEN(AF61))))&VALUE(RIGHT(AF61,2))+2&\"_\"&\"c.-\"&MID(AF61,FIND(\"-\",AF61)+1,FIND(\"-\",MID(AF61,FIND(\"-\",AF61)+1,LEN(AF61))))&VALUE(RIGHT(AF61,2))-1,MID(AF61,1,FIND(\"-\",AF61))&VALUE(RIGHT(AF61,2))+2&\"_\"&MID(AF61,1,FIND(\"-\",AF61))&VALUE(RIGHT(AF61,2))-1)","v":"c.9649-30_c.9649-27"},{"$f":"IF(AND(VALUE(RIGHT(G61,2))>=VALUE(RIGHT(AG61,2)),VALUE(RIGHT(G61,2))<=VALUE(MID(AG61,FIND(\"_\",AG61)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G61))),IF(OR(AND(VALUE(RIGHT(G61,2))<VALUE(RIGHT(AG61,2)),VALUE(MID(G61,FIND(\"_\",G61)-2,2))>=VALUE(MID(AG61,FIND(\"_\",AG61)-2,2))),AND(VALUE(MID(G61,FIND(\"_\",G61)-2,2))>=VALUE(RIGHT(AG61,2)),VALUE(MID(G61,FIND(\"_\",G61)-2,2))<=VALUE(MID(AG61,FIND(\"_\",AG61)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},-0.05180344620007139,"ACATAAT","ACATAAT",39,39,4.19023165110316,4.282491082552,"c.9649-34","c.9649-36_c.9649-33","No",0.022017740099059067,66,66,"ctttgattt","ctttgattt",0.44434315,0.44434315,"c.9649-59","c.9649-61_c.9649-58","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-28,-28,0.724114060402,0.736264824867,"c.9649-28","c.9649-30_c.9649-27","No",0.016780180263664998,-28,-28,54.96,58.26,"c.9649-28","c.9649-30_c.9649-27","No",0.06004366812227069]
["BRCA2_c.9649-37A>C","chr13","+","BRCA2","NM_000059","intron 26","c.9649-37",32972262,-37,"substitution",1,"PAXgene","Houdayer C, Caux‐Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Human Mutation [Internet]. 2012;33(8):1228–38. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22101","Yes","no effect",0,8.54,8.54,0,91.4,91.4,{"$f":"(U62-T62)/T62","v":0},37,1,1,0,1,0.636084902454437,0.659437138665969,1.1,1.5,"c.9649-28","c.9649-30_c.9649-27","No",0.03671245162622714,"ACATAAT","ACCTAAT",39,39,4.19023165110316,5.58473990072891,"c.9649-34","c.9649-36_c.9649-33","No",0.3327997986122364,66,66,"ctttgattt","ctttgattt",0.44434315,0.44963776,"c.9649-59","c.9649-61_c.9649-58","No",0.011915588211498202,0,0,0,"No Branch Point motif found in this sequence",-28,-28,0.724114060402,0.736754834652,"c.9649-28","c.9649-30_c.9649-27","No",0.017456882749911414,-28,-28,54.96,50.42,"c.9649-28","c.9649-30_c.9649-27","No",-0.08260553129548762]
["BRCA2_c.9649-37A>G","chr13","+","BRCA2","NM_000059","intron 26","c.9649-37",32972262,-37,"substitution",1,"Paxgene","CFB","No","no effect",0,8.54,8.54,0,91.4,91.4,0,37,1,0,0,0,0.636084902454437,0.436621449632837,1.1,"NA","c.9649-28","c.9649-30_c.9649-27","No",-0.31357991999485896,"ACATAAT","ACGTAAT",39,39,4.19023165110316,4.35617543394467,"c.9649-34","c.9649-36_c.9649-33","No",0.03960253195018999,66,66,"ctttgattt","ctttgattt",0.44434315,0.44434315,"c.9649-59","c.9649-61_c.9649-58","No",0,0,0,0,"No Branch Point motif found in this sequence",-28,-28,0.724114060402,0.610344648361,"c.9649-28","c.9649-30_c.9649-27","No",-0.15711531961945283,-28,-28,54.96,51.12,"c.9649-28","c.9649-30_c.9649-27","No",-0.06986899563318784]
["C21orf2_c.643-23A>T","chr21","-","C21orf2","NM_004928","intron 6","c.643-23",45750232,-23,"substitution",1,"LCLs","Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, et al. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLOS ONE [Internet]. 2016 Mar 14;11(3):e0150555. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150555","Yes","retention intron 6",1,9.1,9.1,0,82.68,82.68,{"$f":"(U64-T64)/T64","v":0},23,1,1,1,0,0.922515262678174,0.840532784164266,0.9,2.2,"c.643-23","c.643-25_c.643-22","Yes",-0.0888684250880607,"GGCTTAG","CCGTGCC",28,40,5.56776436283002,7.40481698447995,"c.643-23","c.643-25_c.643-22","Yes",0.32994439095051453,30,"NA","ggcttagtc","NA",0.26692072,0,"c.643-23","c.643-25_c.643-22","Yes",-1,79.24,49.61,-0.3739273094396769,"Site broken",-23,-35,0.944257080555,0.339722186327,"c.643-23","c.643-25_c.643-22","Yes",-0.6402227811441735,-23,-47,91.14,54.98,"c.643-23","c.643-25_c.643-22","Yes",-0.3967522492868115]
["CDH1_c.532-18C>T","chr16","+","CDH1","NM_004360","intron 4","c.532-18",68842578,-18,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.59,10.98,0.03682719546742215,91.62,91.62,{"$f":"(U65-T65)/T65","v":0},18,3,3,2,0,0.930121481296627,0.930121481296627,4,4,"c.532-27","c.532-29_c.532-26","No",0,"TACTAAT","TACTAAT",32,32,7.60607406473787,7.60769297569923,"c.532-27","c.532-29_c.532-26","No",2.1284449080841755E-4,34,34,"tactaattc","tactaattc",1.7837941,1.79311,"c.532-27","c.532-29_c.532-26","No",0.005222519796427202,68.9,67.37,-0.022206095791001464,null,-27,-27,0.662236273289,0.657381951809,"c.532-27","c.532-29_c.532-26","No",-0.007330195695700818,-27,-27,88.23,89.2,"c.532-27","c.532-29_c.532-26","No",0.010993992972911695]
["CFTR_c.1117-26_1117-25del","chr7","+","CFTR","NM_000492","intron 8","c.1117-26_1117-25",117182044,-25,"del",1,"minigene","Inserm U1078","No","no effect",0,9.65,9.65,0,83.22,83.22,0,26,0,0,0,0,"NA","NA","NA","NA","c.1117-29","c.1117-31_c.1117-28","No","NA","TTCTGAT","TTCTGAT",41,39,7.7364123153271,7.73283734487516,"c.1117-36","c.1117-38_c.1117-35","No",-4.620966807646822E-4,54,52,"cattaatgc","cattaatgc",1.3030257,1.3048488,"c.1117-47","c.1117-49_c.1117-46","No",0.001399128198315633,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-29,-27,0.566037535667,0.539723157883,"c.1117-29","c.1117-31_c.1117-28","No",-0.04648875052604424,-29,-34,57.57,63.23,"c.1117-29","c.1117-31_c.1117-28","No",0.09831509466736141]
["CFTR_c.1393-18G>A","chr7","+","CFTR","NM_000492","intron 10","c.1393-18",117199500,-18,"substitution",1,"minigene","Inserm U1078","No","no effect",0,6.56,6.46,-0.015243902439024336,89.86,89.86,0,18,2,2,1,0,0.817667856614485,0.817667856614485,3.1,3.1,"c.1393-23","c.1393-25_c.1393-22","No",0,"ACCTAAT","ACCTAAT",28,28,4.55391370054007,4.43473201371855,"c.1393-23","c.1393-25_c.1393-22","No",-0.026171266005191433,24,24,"taatgatgg","taataatgg",0.7448887,0.8075334,"c.1393-17","c.1393-19_c.1393-16","Yes",0.08409940975074531,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-23,-23,0.484120845795,0.478395313025,"c.1393-23","c.1393-25_c.1393-22","No",-0.011826660264128456,-23,-23,63.02,58.85,"c.1393-23","c.1393-25_c.1393-22","No",-0.06616947000952081]
["CFTR_c.1585-22A>C","chr7","+","CFTR","NM_000492","intron 11","c.1585-22",117227771,-22,"substitution",1,"minigene","Inserm U1078","No","no effect",0,7.86,7.86,0,80.92,80.92,0,22,2,2,0,0,0.747981253194568,0.747981253194568,2,2,"c.1585-29","c.1585-31_c.1585-28","No",0,"AAGTGAC","AAGTGAC",34,34,4.72610597778427,5.15374913559235,"c.1585-29","c.1585-31_c.1585-28","No",0.09048530858560458,36,36,"aagtgactc","aagtgactc",1.4228608,1.4705426,"c.1585-29","c.1585-31_c.1585-28","No",0.03351121908762957,80.91,92.74,0.14621184031640092,null,-29,-29,0.667250692844,0.758631587029,"c.1585-29","c.1585-31_c.1585-28","No",0.1369513665029112,-29,-29,76.46,72.43,"c.1585-29","c.1585-31_c.1585-28","No",-0.05270729793355986]
["CFTR_c.2620-22A>G","chr7","+","CFTR","NM_000492","intron 15","c.2620-22",117242858,-22,"substitution",1,"minigene","Inserm U1078","No","no effect",0,12.6,12.6,{"$f":"(R69-Q69)/Q69","v":0},95.65,95.65,0,22,0,1,0,1,0.428719720709538,0.643348409723027,"NA",2,"c.2620-23","c.2620-25_c.2620-22","Yes",{"$f":"IF(AB69=\"NA\",\"NA\",(AC69-AB69)/AB69)","v":0.5006270499016818},"AAATCAA","AAATCAG",28,28,5.98963989112923,5.56776436283002,"c.2620-23",{"$f":"IF(FIND(\"-\",AP69)=3,\"c.-\"&MID(AP69,FIND(\"-\",AP69)+1,FIND(\"-\",MID(AP69,FIND(\"-\",AP69)+1,LEN(AP69))))&VALUE(RIGHT(AP69,2))+2&\"_\"&\"c.-\"&MID(AP69,FIND(\"-\",AP69)+1,FIND(\"-\",MID(AP69,FIND(\"-\",AP69)+1,LEN(AP69))))&VALUE(RIGHT(AP69,2))-1,MID(AP69,1,FIND(\"-\",AP69))&VALUE(RIGHT(AP69,2))+2&\"_\"&MID(AP69,1,FIND(\"-\",AP69))&VALUE(RIGHT(AP69,2))-1)","v":"c.2620-25_c.2620-22"},{"$f":"IF(AND(VALUE(RIGHT(G69,2))>=VALUE(RIGHT(AQ69,2)),VALUE(RIGHT(G69,2))<=VALUE(MID(AQ69,FIND(\"_\",AQ69)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G69))),IF(OR(AND(VALUE(RIGHT(G69,2))<VALUE(RIGHT(AQ69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(MID(AQ69,FIND(\"_\",AQ69)-2,2))),AND(VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(RIGHT(AQ69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))<=VALUE(MID(AQ69,FIND(\"_\",AQ69)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"(AO69-AN69)/AN69","v":-0.07043420572312138},30,30,"aaatcaact","aaatcagct",-0.016530517,0.030216361,"c.2620-23",{"$f":"IF(FIND(\"-\",AZ69)=3,\"c.-\"&MID(AZ69,FIND(\"-\",AZ69)+1,FIND(\"-\",MID(AZ69,FIND(\"-\",AZ69)+1,LEN(AZ69))))&VALUE(RIGHT(AZ69,2))+2&\"_\"&\"c.-\"&MID(AZ69,FIND(\"-\",AZ69)+1,FIND(\"-\",MID(AZ69,FIND(\"-\",AZ69)+1,LEN(AZ69))))&VALUE(RIGHT(AZ69,2))-1,MID(AZ69,1,FIND(\"-\",AZ69))&VALUE(RIGHT(AZ69,2))+2&\"_\"&MID(AZ69,1,FIND(\"-\",AZ69))&VALUE(RIGHT(AZ69,2))-1)","v":"c.2620-25_c.2620-22"},{"$f":"IF(AND(VALUE(RIGHT(G69,2))>=VALUE(RIGHT(BA69,2)),VALUE(RIGHT(G69,2))<=VALUE(MID(BA69,FIND(\"_\",BA69)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G69))),IF(OR(AND(VALUE(RIGHT(G69,2))<VALUE(RIGHT(BA69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(MID(BA69,FIND(\"_\",BA69)-2,2))),AND(VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(RIGHT(BA69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))<=VALUE(MID(BA69,FIND(\"_\",BA69)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"(AY69-AX69)/AX69","v":-2.8279138516962297},0,0,0,"No Branch Point motif found in this sequence",-23,-23,0.720938742161,0.903151869774,"c.2620-23",{"$f":"IF(FIND(\"-\",BL69)=3,\"c.-\"&MID(BL69,FIND(\"-\",BL69)+1,FIND(\"-\",MID(BL69,FIND(\"-\",BL69)+1,LEN(BL69))))&VALUE(RIGHT(BL69,2))+2&\"_\"&\"c.-\"&MID(BL69,FIND(\"-\",BL69)+1,FIND(\"-\",MID(BL69,FIND(\"-\",BL69)+1,LEN(BL69))))&VALUE(RIGHT(BL69,2))-1,MID(BL69,1,FIND(\"-\",BL69))&VALUE(RIGHT(BL69,2))+2&\"_\"&MID(BL69,1,FIND(\"-\",BL69))&VALUE(RIGHT(BL69,2))-1)","v":"c.2620-25_c.2620-22"},{"$f":"IF(AND(VALUE(RIGHT(G69,2))>=VALUE(RIGHT(BM69,2)),VALUE(RIGHT(G69,2))<=VALUE(MID(BM69,FIND(\"_\",BM69)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G69))),IF(OR(AND(VALUE(RIGHT(G69,2))<VALUE(RIGHT(BM69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(MID(BM69,FIND(\"_\",BM69)-2,2))),AND(VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(RIGHT(BM69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))<=VALUE(MID(BM69,FIND(\"_\",BM69)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BJ69=\"\",\"NA\",(BK69-BJ69)/BJ69)","v":0.25274425822479685},-23,-23,70.52,77.79,"c.2620-23",{"$f":"IF(FIND(\"-\",BT69)=3,\"c.-\"&MID(BT69,FIND(\"-\",BT69)+1,FIND(\"-\",MID(BT69,FIND(\"-\",BT69)+1,LEN(BT69))))&VALUE(RIGHT(BT69,2))+2&\"_\"&\"c.-\"&MID(BT69,FIND(\"-\",BT69)+1,FIND(\"-\",MID(BT69,FIND(\"-\",BT69)+1,LEN(BT69))))&VALUE(RIGHT(BT69,2))-1,MID(BT69,1,FIND(\"-\",BT69))&VALUE(RIGHT(BT69,2))+2&\"_\"&MID(BT69,1,FIND(\"-\",BT69))&VALUE(RIGHT(BT69,2))-1)","v":"c.2620-25_c.2620-22"},{"$f":"IF(AND(VALUE(RIGHT(G69,2))>=VALUE(RIGHT(BU69,2)),VALUE(RIGHT(G69,2))<=VALUE(MID(BU69,FIND(\"_\",BU69)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G69))),IF(OR(AND(VALUE(RIGHT(G69,2))<VALUE(RIGHT(BU69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(MID(BU69,FIND(\"_\",BU69)-2,2))),AND(VALUE(MID(G69,FIND(\"_\",G69)-2,2))>=VALUE(RIGHT(BU69,2)),VALUE(MID(G69,FIND(\"_\",G69)-2,2))<=VALUE(MID(BU69,FIND(\"_\",BU69)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},{"$f":"IF(BR69=\"\",\"NA\",(BS69-BR69)/BR69)","v":0.10309132161089068}]
["CFTR_c.2620-26A>G","chr7","+","CFTR","NM_000492","intron 15","c.2620-26",117242854,-26,"substitution",1,"minigene","Inserm U1078","No","no effect",0,12.6,12.6,0,95.65,95.65,0,26,0,1,0,1,0.428719720709538,0.546215691036962,"NA",2,"c.2620-23","c.2620-25_c.2620-22","No",0.27406243438712424,"AAATCAA","AAGTCAA",28,28,5.98963989112923,5.65949438681457,"c.2620-23","c.2620-25_c.2620-22","No",-0.05511942459238858,30,30,"aaatcaact","aagtcaact",-0.016530517,0.054822773,"c.2620-23","c.2620-25_c.2620-22","No",-4.316458462853884,0,0,0,"No Branch Point motif found in this sequence",-23,-23,0.720938742161,0.776091039181,"c.2620-23","c.2620-25_c.2620-22","No",0.07650067029922969,-23,-23,70.52,79.98,"c.2620-23","c.2620-25_c.2620-22","No",0.13414634146341475]
["CFTR_c.3140-33A>G","chr7","+","CFTR","NM_000492","intron 19","c.3140-33",117251602,-33,"substitution",1,"minigene","Inserm U1078","No","no effect",0,4.35,4.35,0,77.84,77.84,0,33,1,1,0,1,0.752550737883701,0.784416179245326,3.8,3.8,"c.3140-27","c.3140-29_c.3140-26","No",0.04234324645170906,"AAATTAC","AAATTAC",56,56,7.06580304053587,7.30008623393182,"c.3140-51","c.3140-53_c.3140-50","No",0.033157334283433745,94,94,"ttctaattt","ttctaattt",1.1846727,1.1846727,"c.3140-87","c.3140-89_c.3140-86","No",0,0,0,{"$f":"IF(BD71=0,0,(BE71-BD71)/BD71)","v":0},"No Branch Point motif found in this sequence",-27,-38,0.57344353199,0.529458105564,"c.3140-27","c.3140-29_c.3140-26","No",-0.07670402397487858,-38,-38,59.94,53.65,"c.3140-38","c.3140-40_c.3140-37","No",-0.10493827160493827]
["CFTR_c.3469-20T>C","chr7","+","CFTR","NM_000492","intron 21","c.3469-20",117267556,-20,"substitution",1,"minigene","Inserm U1078","No","no effect",0,9.83,9.64,-0.01932858596134278,94.94,94.94,0,20,1,1,0,0,0.562187768692659,0.562187768692659,0.5,0.5,"c.3469-31","c.3469-33_c.3469-30","No",0,"TCTTAAA","TCTTAAA",35,35,7.60073849230419,7.59083561335376,"c.3469-30","c.3469-32_c.3469-29","No",-1.3028837869447577E-3,62,62,"aactaattg","aactaattg",0.71168009,0.71168009,"c.3469-55","c.3469-57_c.3469-54","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-31,-31,0.803879797459,0.787331521511,"c.3469-31","c.3469-33_c.3469-30","No",-0.020585510421219297,-31,-31,72.61,62.2,"c.3469-31","c.3469-33_c.3469-30","No",-0.14336868199972452]
["CFTR_c.4243-20A>G","chr7","+","CFTR","NM_000492","intron 26","c.4243-20",117306942,-20,"substitution",1,"minigene","Inserm U1078","No","no effect",0,4.63,3.47,-0.25053995680345564,0,0,0,20,1,1,0,0,0.8993157553183,0.8993157553183,0,0,"c.4243-20","c.4243-22_c.4243-19","Yes",0,"CACTAAC","CGCTAAC",21,21,4.66968252203805,4.69041573305192,"c.4243-16","c.4243-18_c.4243-15","No",4.4399615854016136E-3,50,50,"gtctgacct","gtctgacct",2.2220184,2.2220184,"c.4243-43","c.4243-45_c.4243-42","No",0,92.38,62.76,-0.3206321714656852,"Site broken",-20,-16,0.541965126991,0.583704471588,"c.4243-20","c.4243-22_c.4243-19","Yes",0.07701481611692915,-16,-16,72.66,88.32,"c.4243-16","c.4243-18_c.4243-15","No",0.21552436003303052]
["COL4A5_c.2245-40A>G","chrX","+","COL4A5","NM_000495","intron 28","c.2245-40",107849932,-40,"substitution",1,"minigene","Chiereghin C, Robusto M, Mastrangelo A, Castorina P, Montini G, Giani M, et al. Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. PLOS ONE [Internet]. 2017 Jun 1;12(6):e0178630. Available from: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178630","Yes","skipping exon 29",1,3.87,3.87,0,75.87,75.87,0,40,0,0,0,0,0.317519190930225,0.0652661002137971,"NA","NA","c.2245-40","c.2245-42_c.2245-39","Yes",-0.7944499038858431,"AAGTCAT","TTGTCAT",45,20,6.55743837549593,6.557438524302,"c.2245-40","c.2245-42_c.2245-39","Yes",2.2692713534729022E-8,82,82,"cattaaatt","cattaaatt",0.4056495,0.4056495,"c.2245-75","c.2245-77_c.2245-74","No",0,0,0,0,"No Branch Point motif found in this sequence",-40,-35,0.965183734894,0.402329325676,"c.2245-40","c.2245-42_c.2245-39","Yes",-0.5831577852685372,-40,-35,98.35,57.37,"c.2245-40","c.2245-42_c.2245-39","Yes",-0.4166751398068124]
["COL5A1_c.2701-25T>G","chr9","+","COL5A1","NM_000093","intron 32","c.2701-25",137686903,-25,"substitution",1,"fibroblast","Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JRW, et al. A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families. The American Journal of Human Genetics [Internet]. 1998 Aug 1;63(2):390–8. Available from: http://www.sciencedirect.com/science/article/pii/S0002929707614827","Yes","skipping exon 33",1,8.04,8.04,0,87.11,87.11,{"$f":"(U75-T75)/T75","v":0},25,2,2,1,0,0.966160940336981,0.958295913823603,5,5,"c.2701-23","c.2701-25_c.2701-22","Yes",-0.008140493146653969,"GACTGAC","GAGTGAC",28,32,4.99550926898604,5.29150226675071,"c.2701-23","c.2701-25_c.2701-22","Yes",0.05925181634679441,30,34,"gactgacca","gagtgacgg",2.1266558,1.2534861,"c.2701-23","c.2701-25_c.2701-22","Yes",-0.41058346160201387,86.57,71.48,-0.17430980709252616,null,-23,-27,0.896344721317,0.640439629555,"c.2701-23","c.2701-25_c.2701-22","Yes",-0.2854985204643125,-23,-27,90.13,63.41,"c.2701-23","c.2701-25_c.2701-22","Yes",-0.29646066792410963]
["DYSF_c.3443-33A>G","chr2","+","DYSF","NM_003494","intron 31","c.3443-33",71817308,-33,"substitution",1,"RTPCR","Sinnreich M, Therrien C, Karpati G. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology [Internet]. 2006 Apr 11;66(7):1114–6. Available from: https://insights.ovid.com/neurology/neur/2006/04/110/lariat-branch-point-mutation-dysferlin-gene-mild/35/00006114","Yes","retention intron 33",1,4.44,4.44,0,75.37,75.37,0,33,2,2,1,1,0.922264790347396,0.749450882071197,2,2,"c.3443-33","c.3443-35_c.3443-32","Yes",-0.18737992611764337,"CACTCAC","CAGCCAC",38,42,6.99979685656962,6.76760188744621,"c.3443-33","c.3443-35_c.3443-32","Yes",-0.03317167253296565,40,56,"cactcactc","tcttaacca",1.4955534,0.65309574,"c.3443-33","c.3443-35_c.3443-32","Yes",-0.5633083111575955,93.13,63.15,-0.3219156018468807,"Site broken",-33,-25,0.96850913763,0.292186141014,"c.3443-33","c.3443-35_c.3443-32","Yes",-0.6983134906408864,-33,-25,95.94,53.06,"c.3443-33","c.3443-35_c.3443-32","Yes",-0.44694600792161765]
["ENG_c.1742-22T>C","chr9","-","ENG","NM_001114753","intron 13","c.1742-22",130578354,-22,"substitution",1,"RTPCR","Harrison Rachel E., Berger Rolf, Haworth Sheila G., Tulloh Robert, Mache Christoph J., Morrell Nicholas W., et al. Transforming Growth Factor-β Receptor Mutations and Pulmonary Arterial Hypertension in Childhood. Circulation [Internet]. 2005 Feb 1;111(4):435–41. Available from: https://www.ahajournals.org/doi/full/10.1161/01.CIR.0000153798.78540.87","Yes","skipping exon 14",1,6.82,6.82,0,80.73,80.73,0,22,0,0,0,0,"NA","NA","NA","NA","c.1742-20","c.1742-22_c.1742-19","Yes","NA","TGCTGAT","TGCCGAT",25,25,5.91607978309962,5.91607978309611,"c.1742-20","c.1742-22_c.1742-19","Yes",-5.933119976985593e-13,27,"NA","tgctgatgg","NA",1.4356812,0,"c.1742-20","c.1742-22_c.1742-19","Yes",-1,85.07,76.04,-0.10614787821793803,null,-20,-20,0.814423620701,0.670770585537,"c.1742-20","c.1742-22_c.1742-19","Yes",-0.17638613555971447,-20,-27,87.39,64.71,"c.1742-20","c.1742-22_c.1742-19","Yes",-0.2595262615859939]
["FBN2_c.3974-26T>G","chr5","-","FBN2","NM_001999","intron 30","c.3974-26",127670562,-26,"substitution",1,"fibroblast","Maslen C, Babcock D, Raghunath M, Steinmann B. A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly. The American Journal of Human Genetics [Internet]. 1997 Jun 1;60(6):1389–98. Available from: http://www.sciencedirect.com/science/article/pii/S0002929707642311","Yes","skipping exon 31",1,3.29,3.29,0,68.64,68.64,{"$f":"(U78-T78)/T78","v":0},26,2,2,0,0,0.8790947000954,0.8790947000954,3.9,3.9,"c.3974-24","c.3974-26_c.3974-23","Yes",0,"TACTAAG","TATTGAA",29,21,4.83260990545399,5.65667243092529,"c.3974-24","c.3974-26_c.3974-23","Yes",0.17052121764293016,17,17,"aaataaatt","aaataaatt",0.073969625,0.073969625,"c.3974-10","c.3974-12_c.3974-9","No",0,77.06,61.97,-0.19582143784064368,"Site broken",-24,-25,0.82653182745,0.472131460905,"c.3974-24","c.3974-26_c.3974-23","Yes",-0.4287800599746886,-24,-25,91.23,48.91,"c.3974-24","c.3974-26_c.3974-23","Yes",-0.46388249479337945]
["FGD1_c.2016-35del","chrX","-","FGD1","NM_004463","intron 12","c.2016-35",54476769,-35,"del",1,"LCL","Aten E, Sun Y, Almomani R, Santen GWE, Messemaker T, Maas SM, et al. Exome Sequencing Identifies A Branch Point Variant in Aarskog–Scott Syndrome. Human Mutation [Internet]. 2013;34(3):430–4. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22252","Yes","skipping exon 13",1,6.66,6.66,0,75.79,75.79,{"$f":"(U79-T79)/T79","v":0},35,1,0,0,0,0.795310245242557,0.238731579827153,3.3,"NA","c.2016-35","c.2016-37_c.2016-34","Yes",-0.699825846259099,"ACCTAAC","TTCTGAC",40,90,10.2458232569871,8.01754184077338,"c.2016-35","c.2016-37_c.2016-34","Yes",-0.2174819299848992,93,92,"ttctgactc","ttctgactc",1.7904728,1.7930461,"c.2016-86","c.2016-88_c.2016-85","No",1.4372181470725996E-3,83.92,54.3,-0.3529551954242136,"Site broken",-35,-32,0.863163352013,0.36281388998,"c.2016-35","c.2016-37_c.2016-34","Yes",-0.579669492299604,-35,-35,94.73,64.98,"c.2016-35","c.2016-37_c.2016-34","Yes",-0.3140504591998311]
["ITGB4_c.1762-25T>A","chr17","+","ITGB4","NM_000213","intron 14","c.1762-25",73732344,-25,"substitution",1,"Blood","Masunaga T, Niizeki H, Yasuda F, Yoshida K, Amagai M, Ishiko A. Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. Journal of Dermatological Science [Internet]. 2015 Apr 1;78(1):61–6. Available from: https://www.jdsjournal.com/article/S0923-1811(15)00041-9/abstract","Yes","intron retention",1,8.2,8.2,0,85.64,85.64,{"$f":"(U80-T80)/T80","v":0},25,1,1,0,0,0.968191109545729,0.968191109545729,0.9,0.9,"c.1762-23","c.1762-25_c.1762-22","Yes",0,"GGCTCAC","TGGTGCC",28,21,6.32455532033676,6.31119800745403,"c.1762-23","c.1762-25_c.1762-22","Yes",-0.00211197660644675,30,"NA","ggctcactg","NA",1.2909094,0,"c.1762-23","c.1762-25_c.1762-22","Yes",-1,93.79,78.7,-0.16089135302271035,null,-23,-25,0.972097218037,0.77511203289,"c.1762-23","c.1762-25_c.1762-22","Yes",-0.20263938780195376,-17,-19,85.4,69.89,"c.1762-17","c.1762-19_c.1762-16","No",-0.18161592505854807]
["ITGB4_c.3977-19T>A","chr17","+","ITGB4","NM_000213","intron 31","c.3977-19",73748508,-19,"substitution",1,"keratinocytes","Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, et al. Splicing Modulation of Integrin (β4 Pre-mRNA Carrying a Branch Point Mutation Underlies Epidermolysis Bullosa with Pyloric Atresia Undergoing Spontaneous Amelioration With Ageing. Hum Mol Genet [Internet]. 1999 Oct 1;8(11):2097–105. Available from: https://academic.oup.com/hmg/article/8/11/2097/2527136","Yes","use of 3 ss 38 nt downstream of physiological ss",1,8.74,8.3,-0.05034324942791756,80.41,80.41,0,19,0,1,0,1,0.241515567179634,0.613735941740537,"NA",0,"c.3977-30","c.3977-32_c.3977-29","No",1.5411858494572885,"GGCTCAC","CAGCCAG",22,35,6.16440728773514,6.16441400291102,"c.3977-17","c.3977-19_c.3977-16","Yes",1.0893465609772067E-6,24,74,"ggctcactc","aggtgaggg",1.5608381,-3.0679616,"c.3977-17","c.3977-19_c.3977-16","Yes",-2.9655860527751083,93.79,78.7,-0.16089135302271035,null,-17,-19,0.850685834885,0.483326882124,"c.3977-17","c.3977-19_c.3977-16","Yes",-0.43183856800749654,-23,-25,94.5,63.8,"c.3977-23","c.3977-25_c.3977-22","No",-0.3248677248677249]
["KCNH2_c.2399-28A>G","chr7","-","KCNH2","NM_000238","intron 9","c.2399-28",150646165,-28,"substitution",1,"minigene","Crotti L, Lewandowska MA, Schwartz PJ, Insolia R, Pedrazzini M, Bussani E, et al. A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm [Internet]. 2009 Feb 1;6(2):212–8. Available from: http://www.sciencedirect.com/science/article/pii/S1547527108010813","Yes","use of 3 ss 147 upstream of physiological ss",1,6.64,6.64,0,85.75,85.75,{"$f":"(U82-T82)/T82","v":0},28,1,1,0,0,0.920825805369465,0.920825805369465,1.9,1.9,"c.2399-28","c.2399-30_c.2399-27","Yes",0,"GGCTGAG","TCTCCAT",33,16,5.99999999988216,8.48496739592068,"c.2399-28","c.2399-30_c.2399-27","Yes",0.41416123268122085,35,"NA","ggctgagct","NA",1.2452021,0,"c.2399-28","c.2399-30_c.2399-27","Yes",-1,86.13,56.5,-0.34401486125624053,"Site broken",-28,-23,0.80617916584,0.637689054012,"c.2399-28","c.2399-30_c.2399-27","Yes",-0.20899834548867482,-28,-47,92.96,52.3,"c.2399-28","c.2399-30_c.2399-27","Yes",-0.43739242685025814]
["L1CAM_c.2432-19A>C","chrX","-","L1CAM","NM_000425","intron 18","c.2432-19",153131293,-19,"substitution",1,"lymphocytes","Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus. Nature Genetics [Internet]. 1992 Oct;2(2):107–12. Available from: https://www.nature.com/articles/ng1092-107","Yes","use of 3 ss 69 nt upstream of physiological ss",1,3.72,6.1,0.6397849462365589,80.61,80.61,0,19,0,0,0,0,"NA","NA","NA","NA","c.2432-24","c.2432-26_c.2432-23","No","NA","AAGTCAC","ACGTCAC",20,20,5.19583905288587,5.55262342413689,"c.2432-15","c.2432-17_c.2432-14","No",0.0686673254539812,22,46,"aagtcactg","gggtgagag",-0.69387728,-0.45981615,"c.2432-15","c.2432-17_c.2432-14","No",-0.33732352498989454,68.8,39.17,-0.43066860465116275,"Site broken",-24,-24,0.678853988647,0.611497282982,"c.2432-24","c.2432-26_c.2432-23","No",-0.09922119747612626,-24,-24,81.35,77.67,"c.2432-24","c.2432-26_c.2432-23","No",-0.04523663183773808]
["LCAT_c.524-19C>A","chr16","-","LCAT","NM_000229","intron 4","c.524-19",67976509,-19,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","intron 4 retention",1,8.3,6.97,-0.16024096385542178,86.2,86.2,{"$f":"(U84-T84)/T84","v":0},19,2,2,1,0,0.894748744586972,0.895924794770987,4.8,6.6,"c.524-20","c.524-22_c.524-19","Yes",1.3143915441400146E-3,"CCCTGAC","CCCTGAA",25,25,6.16440390501795,6.16433422684907,"c.524-20","c.524-22_c.524-19","Yes",-1.1303310093506215E-5,27,27,"ccctgaccc","ccctgaacc",2.4620276,1.5163543,"c.524-20","c.524-22_c.524-19","Yes",-0.3841034519678008,95.07,88.45,-0.06963290207215726,null,-25,-25,0.752279162407,0.801946699619,"c.524-25","c.524-27_c.524-24","No",0.06602274753042908,-20,-30,62.94,37.16,"c.524-20","c.524-22_c.524-19","Yes",-0.409596441054973]
["LCAT_c.524-20A>C","chr16","-","LCAT","NM_000229","intron 4","c.524-20",67976510,-20,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","intron 4 retention",1,8.3,8.65,0.042168674698795136,86.2,86.2,0,20,2,1,0,0,0.894748744586972,0.733938331450279,4.8,4.8,"c.524-20","c.524-22_c.524-19","Yes",-0.17972689440422207,"CCCTGAC","ACCCCAG",25,35,6.16440390501795,4.61021738815862,"c.524-20","c.524-22_c.524-19","Yes",-0.25212275847048093,27,87,"ccctgaccc","cggtgagtg",2.4620276,0.81974053,"c.524-20","c.524-22_c.524-19","Yes",-0.6670465716956219,95.07,65.44,-0.3116650888818765,"Site broken",-25,-25,0.752279162407,0.803368747234,"c.524-25","c.524-27_c.524-24","No",0.0679130665583415,-20,-30,62.94,71.88,"c.524-20","c.524-22_c.524-19","Yes",0.14204003813155383]
["LCAT_c.524-21G>C","chr16","-","LCAT","NM_000229","intron 4","c.524-21",67976511,-21,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","intron 4 retention",1,8.3,8.3,0,86.2,86.2,0,21,2,1,0,1,0.894748744586972,0.894748744586972,4.8,3.3,"c.524-20","c.524-22_c.524-19","Yes",0,"CCCTGAC","CCCTCAC",25,25,6.16440390501795,6.16425178671393,"c.524-20","c.524-22_c.524-19","Yes",-2.4676887881552425E-5,27,27,"ccctgaccc","ccctcaccc",2.4620276,2.0069241,"c.524-20","c.524-22_c.524-19","Yes",-0.1848490650551602,95.07,100,0.05185652676974868,null,-25,-25,0.752279162407,0.815563321114,"c.524-25","c.524-27_c.524-24","No",0.0841232375817979,-20,-20,62.94,68.27,"c.524-20","c.524-22_c.524-19","Yes",0.084683825865904]
["LCAT_c.524-22T>C","chr16","-","LCAT","NM_000229","intron 4","c.524-22",67976512,-22,"substitution",1,"minigene","Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, et al. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). J Clin Invest [Internet]. 1996 Jul 15;98(2):358–64. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC507438/","Yes","intron 4 retention",1,8.3,8.3,0,86.2,86.2,0,22,2,2,0,0,0.894748744586972,0.894748744586972,4.8,4.8,"c.524-20","c.524-22_c.524-19","Yes",0,"CCCTGAC","CCCCGAC",25,25,6.16440390501795,6.14533851828144,"c.524-20","c.524-22_c.524-19","Yes",-0.00309281919716375,27,87,"ccctgaccc","cggtgagtg",2.4620276,0.81580187,"c.524-20","c.524-22_c.524-19","Yes",-0.66864633442777,95.07,86.03,-0.09508783001998519,null,-25,-25,0.752279162407,0.838022470474,"c.524-25","c.524-27_c.524-24","No",0.11397804478945672,-20,-30,62.94,63.93,"c.524-20","c.524-22_c.524-19","Yes",0.01572926596758821]
["LCAT_c.524-23C>A","chr16","-","LCAT","NM_000229","intron 4","c.524-23",67976513,-23,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","intron 4 retention",1,8.3,8.3,0,86.2,86.2,0,23,2,3,0,1,0.894748744586972,0.946524114701838,4.8,4.8,"c.524-20","c.524-22_c.524-19","No",0.057865820352468,"CCCTGAC","CCATGAC",25,25,6.16440390501795,6.16425658624486,"c.524-20","c.524-22_c.524-19","No",-2.3898299877915116E-5,27,27,"ccctgaccc","ccatgaccc",2.4620276,1.6280772,"c.524-20","c.524-22_c.524-19","No",-0.33872504110027035,95.07,69.34,-0.2706426843378562,null,-25,-25,0.752279162407,0.780136287212,"c.524-25","c.524-27_c.524-24","No",0.037030302309408764,-20,-23,62.94,75.55,"c.524-20","c.524-22_c.524-19","No",0.20034953924372417]
["LCAT_c.524-24C>A","chr16","-","LCAT","NM_000229","intron 4","c.524-24",67976514,-24,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","no effect",0,8.3,8.3,0,86.2,86.2,0,24,2,2,1,0,0.894748744586972,0.894748744586972,4.8,4.8,"c.524-20","c.524-22_c.524-19","No",0,"CCCTGAC","CACTGAC",25,25,6.16440390501795,6.16441229369476,"c.524-20","c.524-22_c.524-19","No",1.3608253025668116E-6,27,27,"ccctgaccc","cactgaccc",2.4620276,2.4304063,"c.524-20","c.524-22_c.524-19","No",-0.012843600940947962,95.07,88.2,-0.07226254338908163,null,-25,-24,0.752279162407,0.778383016586,"c.524-25","c.524-27_c.524-24","Yes",0.03469969059820534,-20,-24,62.94,76.06,"c.524-20","c.524-22_c.524-19","No",0.20845249443914848]
["LCAT_c.524-25C>A","chr16","-","LCAT","NM_000229","intron 4","c.524-25",67976515,-25,"substitution",1,"minigene","Li M, Pritchard PH. Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase Gene. J Biol Chem [Internet]. 2000 Jun 16;275(24):18079–84. Available from: http://www.jbc.org/content/275/24/18079","Yes","no effect",0,8.3,8.3,0,86.2,86.2,0,25,2,2,1,1,0.894748744586972,0.895924794770987,4.8,6.6,"c.524-20","c.524-22_c.524-19","No",1.3143915441400146E-3,"CCCTGAC","AGCTGAC",25,30,6.16440390501795,5.86518782692279,"c.524-20","c.524-22_c.524-19","No",-0.04853933692625041,27,32,"ccctgaccc","agctgacct",2.4620276,2.0686032,"c.524-20","c.524-22_c.524-19","No",-0.15979690885674872,95.07,90.82,-0.044703902387714316,null,-25,-25,0.752279162407,0.772851288319,"c.524-25","c.524-27_c.524-24","Yes",0.02734639870414221,-20,-25,62.94,86.15,"c.524-20","c.524-22_c.524-19","No",0.3687639021290119]
["LDLR_c.1359-30C>T","chr19","+","LDLR","NM_000527","intron 9","c.1359-30",11224181,-30,"substitution",1,"LCL","Webb JC, Patel DD, Shoulders CC, Knight BL, Soutar AK. Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism. Hum Mol Genet [Internet]. 1996 Sep 1;5(9):1325–31. Available from: https://academic.oup.com/hmg/article/5/9/1325/606661","Yes","no effect",0,6.76,6.76,0,81.72,81.72,0,30,1,1,0,0,0.921133865223576,0.921133865223576,2.5,2.5,"c.1359-25","c.1359-27_c.1359-24","No",0,"CGCTGAT","TGCTGAT",30,30,6.99821044889856,6.9979333128133,"c.1359-25","c.1359-27_c.1359-24","No",-3.9600993323035967E-5,32,32,"cgctgatgc","tgctgatgc",2.4191642,2.2088309,"c.1359-25","c.1359-27_c.1359-24","No",-0.08694461500380993,86.59,85.07,-0.017553990068137317,null,-25,-25,0.847269594669,0.76581788063,"c.1359-25","c.1359-27_c.1359-24","No",-0.09613435269186126,-25,-25,93.13,94.77,"c.1359-25","c.1359-27_c.1359-24","No",0.01760979276280469]
["LDLR_c.1359-31_1359-23delinsCGGCT","chr19","+","LDLR","NM_000527","intron 9","c.1359-31_1359-23",11224180,-23,"delins",1,"LCL","Webb JC, Patel DD, Shoulders CC, Knight BL, Soutar AK. Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism. Hum Mol Genet [Internet]. 1996 Sep 1;5(9):1325–31. Available from: https://academic.oup.com/hmg/article/5/9/1325/606661","Yes","retention intron 9",1,6.76,6.76,0,81.72,81.72,0,31,0,0,0,0,"NA","NA","NA","NA","c.1359-25","c.1359-27_c.1359-24","Yes","NA","CGCTGAT","AGATGAG",30,42,6.99821044889856,6.51954811060621,"c.1359-25","c.1359-27_c.1359-24","Yes",-0.0683978199551982,32,85,"cgctgatgc","aggtgagcg",2.4191642,0.42977161,"c.1359-25","c.1359-27_c.1359-24","Yes",-0.8223470692894679,95.64,0,-1,"Site broken",-25,-22,0.847269594669,0.424442440271,"c.1359-25","c.1359-27_c.1359-24","Yes",-0.4990467698338502,-25,-26,93.13,68.47,"c.1359-25","c.1359-27_c.1359-24","Yes",-0.2647911521529045]
["LMX1B_c.140-33_140-29del","chr9","+","LMX1B","NM_002316","intron 1","c.140-33_140-29",129377629,-29,"del",1,"fibroblasts","Hamlington JD, Clough MV, Dunston JA, McIntosh I. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. European Journal of Human Genetics [Internet]. 2000 Apr;8(4):311–4. Available from: https://www.nature.com/articles/5200448","Yes","skipping exon 2",1,7.91,7.91,0,86.13,86.13,0,33,0,0,0,0,"NA","NA","NA","NA","c.140-30",{"$f":"IF(FIND(\"-\",AF93)=3,\"c.-\"&MID(AF93,FIND(\"-\",AF93)+1,FIND(\"-\",MID(AF93,FIND(\"-\",AF93)+1,LEN(AF93))))&VALUE(RIGHT(AF93,2))+2&\"_\"&\"c.-\"&MID(AF93,FIND(\"-\",AF93)+1,FIND(\"-\",MID(AF93,FIND(\"-\",AF93)+1,LEN(AF93))))&VALUE(RIGHT(AF93,2))-1,MID(AF93,1,FIND(\"-\",AF93))&VALUE(RIGHT(AF93,2))+2&\"_\"&MID(AF93,1,FIND(\"-\",AF93))&VALUE(RIGHT(AF93,2))-1)","v":"c.140-32_c.140-29"},{"$f":"IF(AND(VALUE(RIGHT(G93,2))>=VALUE(RIGHT(AG93,2)),VALUE(RIGHT(G93,2))<=VALUE(MID(AG93,FIND(\"_\",AG93)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G93))),IF(OR(AND(VALUE(RIGHT(G93,2))<VALUE(RIGHT(AG93,2)),VALUE(MID(G93,FIND(\"_\",G93)-2,2))>=VALUE(MID(AG93,FIND(\"_\",AG93)-2,2))),AND(VALUE(MID(G93,FIND(\"_\",G93)-2,2))>=VALUE(RIGHT(AG93,2)),VALUE(MID(G93,FIND(\"_\",G93)-2,2))<=VALUE(MID(AG93,FIND(\"_\",AG93)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"Yes"},"NA","CGCTGAC","GTGCGAC",35,63,9.53939198157445,7.63380571852626,"c.140-30","c.140-32_c.140-29","Yes",-0.19975971914445623,37,"NA","cgctgacgg","NA",1.8547702,0,"c.140-30","c.140-32_c.140-29","Yes",-1,90.49,22.26,-0.7540059675102221,"Site broken",-30,-58,0.915253221989,0.170635670424,"c.140-30","c.140-32_c.140-29","Yes",-0.8135645236482426,-30,-58,85.85,16.61,"c.140-30","c.140-32_c.140-29","Yes",-0.8065230052417006]
["MLH1_c.117-44_117-40del","chr3","+","MLH1","NM_000249","intron 1","c.117-44_117-40",37038066,-40,"del",1,"minigene","Inserm U1245","No","no effect",0,7.22,7.22,0,80.4,80.4,{"$f":"(U94-T94)/T94","v":0},44,0,0,0,0,"NA","NA","NA","NA","c.117-28","c.117-30_c.117-27","No","NA","GACTGAT","GACTGAT",33,33,6.44767992001226,6.44770589833212,"c.117-28","c.117-30_c.117-27","No",4.0290957649899083E-6,35,35,"gactgataa","gactgataa",0.89895965,0.89895965,"c.117-28","c.117-30_c.117-27","No",0,82.67,6.23,-0.9246401354784081,"Site broken",-28,-28,0.678044319153,0.745852291584,"c.117-28","c.117-30_c.117-27","No",0.10000522165823088,-28,-28,81.12,76.26,"c.117-28","c.117-30_c.117-27","No",-0.05991124260355028]
["MLH1_c.1559-36C>T","chr3","+","MLH1","NM_000249","intron 13","c.1559-36",37081641,-36,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.44,10.44,0,92.68,92.68,0,36,1,1,0,0,0.662005623104516,0.662005623104516,1.3,1.3,"c.1559-33","c.1559-35_c.1559-32","No",0,"TACTTAC","TATTTAC",38,38,7.45628323496319,7.39127537006797,"c.1559-33","c.1559-35_c.1559-32","No",-0.008718534804363671,40,40,"tacttacct","tatttacct",1.5771712,0.82395042,"c.1559-33","c.1559-35_c.1559-32","No",-0.4775770569485418,79.78,55.94,-0.29882175983955883,"Site broken",-33,-33,0.949981570244,0.955596148968,"c.1559-33","c.1559-35_c.1559-32","No",0.005910197523682459,-33,-33,97.25,96.28,"c.1559-33","c.1559-35_c.1559-32","No",-0.009974293059125953]
["MLH1_c.1668-19A>G","chr3","+","MLH1","NM_000249","intron 14","c.1668-19",37083740,-19,"substitution",1,"minigene","Inserm U1245","No","no effect",0,8.17,8.76,0.07221542227662177,92.78,92.78,0,19,2,2,0,1,0.890203921761327,0.890203921761327,0.9,0.9,"c.1668-25","c.1668-27_c.1668-24","No",0,"AAGTCAC","CCTTAAA",24,29,4.93641457096449,4.91635476387599,"c.1668-19","c.1668-21_c.1668-18","Yes",-4.063639064370665E-3,26,31,"aagtcactt","ccttaaagt",0.47340942,0.46115534,"c.1668-19","c.1668-21_c.1668-18","Yes",-0.02588474052755435,68.02,70.64,0.03851808291678925,null,-25,-25,0.883522808552,0.909961283207,"c.1668-25","c.1668-27_c.1668-24","No",0.0299239299756503,-25,-25,90.76,93.94,"c.1668-25","c.1668-27_c.1668-24","No",0.0350374614367562]
["MLH1_c.1732-19T>A","chr3","+","MLH1","NM_000249","intron 15","c.1732-19",37088991,-19,"substitution",1,"minigene","Inserm U1245","No","skipping exon 16",1,9.34,6.35,-0.3201284796573876,86.28,86.28,0,19,0,0,0,0,0.425313645989635,0.425313645989635,"NA","NA","c.1732-20","c.1732-22_c.1732-19","Yes",0,"CGTTAAA","CCTTCAA",39,25,4.68243546338057,5.19311324791669,"c.1732-34","c.1732-36_c.1732-33","No",0.10906242884283698,41,41,"cgttaaagc","cgttaaagc",1.1069924,0.78128226,"c.1732-34","c.1732-36_c.1732-33","No",-0.2942297887501305,72.27,69.54,-0.03777501037774996,null,-20,-20,0.703593671322,0.738981962204,"c.1732-20","c.1732-22_c.1732-19","Yes",0.05029648833467768,-34,-20,45.8,85.79,"c.1732-34","c.1732-36_c.1732-33","No",0.8731441048034937]
["MLH1_c.1732-19T>C","chr3","+","MLH1","NM_000249","intron 15","c.1732-19",37088991,-19,"substitution",1,"minigene","Inserm U1245","No","no effect",0,9.34,9.15,-0.02034261241970016,86.28,86.28,0,19,0,0,0,0,0.425313645989635,0.425313645989635,"NA","NA","c.1732-20","c.1732-22_c.1732-19","Yes",0,"CGTTAAA","CCTTCAC",39,25,4.68243546338057,5.78835447539054,"c.1732-34","c.1732-36_c.1732-33","No",0.23618457118286293,41,27,"cgttaaagc","ccttcacgt",1.1069924,1.2507871,"c.1732-34","c.1732-36_c.1732-33","No",0.12989673641842522,72.27,76.16,0.05382593053825931,null,-20,-20,0.703593671322,0.772870540619,"c.1732-20","c.1732-22_c.1732-19","Yes",0.09846147303575638,-34,-20,45.8,56.35,"c.1732-34","c.1732-36_c.1732-33","No",0.23034934497816606]
["MLH1_c.1732-22T>C","chr3","+","MLH1","NM_000249","intron 15","c.1732-22",37088988,-22,"substitution",1,"minigene","Inserm U1245","No","no effect",0,9.34,9.34,0,86.28,86.28,0,22,0,1,0,0,0.425313645989635,0.663510649565246,"NA",0.9,"c.1732-20","c.1732-22_c.1732-19","Yes",0.5600502260428669,"CGTTAAA","CGTTAAA",39,39,4.68243546338057,6.38979182727245,"c.1732-34","c.1732-36_c.1732-33","No",0.36462998310268707,41,41,"cgttaaagc","cgttaaagc",1.1069924,1.0976765,"c.1732-34","c.1732-36_c.1732-33","No",-0.008415504930295857,72.27,63.23,-0.1250864812508648,"Site broken",-20,-25,0.703593671322,0.366819262505,"c.1732-20","c.1732-22_c.1732-19","Yes",-0.4786490023200834,-34,-34,45.8,56.86,"c.1732-34","c.1732-36_c.1732-33","No",0.2414847161572053]
["MLH1_c.1732-38G>A","chr3","+","MLH1","NM_000249","intron 15","c.1732-38",37088972,-38,"substitution",1,"minigene","Inserm U1245","No","no effect",0,9.34,9.34,0,86.28,86.28,0,38,0,1,0,1,0.425313645989635,0.530218064714706,"NA",4.5,"c.1732-20","c.1732-22_c.1732-19","No",0.24665189963744438,"CGTTAAA","CATTAAA",39,39,4.68243546338057,5.30529934245472,"c.1732-34","c.1732-36_c.1732-33","No",0.13302134838703406,41,41,"cgttaaagc","cattaaagc",1.1069924,0.95105659,"c.1732-34","c.1732-36_c.1732-33","No",-0.14086439075823828,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-20,-20,0.703593671322,0.600419402122,"c.1732-20","c.1732-22_c.1732-19","No",-0.14663899549599885,-34,-34,45.8,51.94,"c.1732-34","c.1732-36_c.1732-33","No",0.13406113537117906]
["MLH1_c.1897-34T>C","chr3","+","MLH1","NM_000249","intron 16","c.1897-34",37089974,-34,"substitution",1,"minigene","Inserm U1245","No","no effect",0,6.53,6.53,{"$f":"(R101-Q101)/Q101","v":0},86.55,86.55,0,34,0,0,0,0,0.505684766675949,0.505684766675949,"NA","NA","c.1897-35","c.1897-37_c.1897-34","Yes",{"$f":"IF(AB101=\"NA\",\"NA\",(AC101-AB101)/AB101)","v":0},"CTATGAC","CTATGAC",48,48,6.85815362029722,6.12913961560053,"c.1897-43",{"$f":"IF(FIND(\"-\",AP101)=3,\"c.-\"&MID(AP101,FIND(\"-\",AP101)+1,FIND(\"-\",MID(AP101,FIND(\"-\",AP101)+1,LEN(AP101))))&VALUE(RIGHT(AP101,2))+2&\"_\"&\"c.-\"&MID(AP101,FIND(\"-\",AP101)+1,FIND(\"-\",MID(AP101,FIND(\"-\",AP101)+1,LEN(AP101))))&VALUE(RIGHT(AP101,2))-1,MID(AP101,1,FIND(\"-\",AP101))&VALUE(RIGHT(AP101,2))+2&\"_\"&MID(AP101,1,FIND(\"-\",AP101))&VALUE(RIGHT(AP101,2))-1)","v":"c.1897-45_c.1897-42"},{"$f":"IF(AND(VALUE(RIGHT(G101,2))>=VALUE(RIGHT(AQ101,2)),VALUE(RIGHT(G101,2))<=VALUE(MID(AQ101,FIND(\"_\",AQ101)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G101))),IF(OR(AND(VALUE(RIGHT(G101,2))<VALUE(RIGHT(AQ101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(MID(AQ101,FIND(\"_\",AQ101)-2,2))),AND(VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(RIGHT(AQ101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))<=VALUE(MID(AQ101,FIND(\"_\",AQ101)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},{"$f":"(AO101-AN101)/AN101","v":-0.10629887358298869},50,50,"ctatgacag","ctatgacag",1.0101493,1.0008335,"c.1897-43",{"$f":"IF(FIND(\"-\",AZ101)=3,\"c.-\"&MID(AZ101,FIND(\"-\",AZ101)+1,FIND(\"-\",MID(AZ101,FIND(\"-\",AZ101)+1,LEN(AZ101))))&VALUE(RIGHT(AZ101,2))+2&\"_\"&\"c.-\"&MID(AZ101,FIND(\"-\",AZ101)+1,FIND(\"-\",MID(AZ101,FIND(\"-\",AZ101)+1,LEN(AZ101))))&VALUE(RIGHT(AZ101,2))-1,MID(AZ101,1,FIND(\"-\",AZ101))&VALUE(RIGHT(AZ101,2))+2&\"_\"&MID(AZ101,1,FIND(\"-\",AZ101))&VALUE(RIGHT(AZ101,2))-1)","v":"c.1897-45_c.1897-42"},{"$f":"IF(AND(VALUE(RIGHT(G101,2))>=VALUE(RIGHT(BA101,2)),VALUE(RIGHT(G101,2))<=VALUE(MID(BA101,FIND(\"_\",BA101)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G101))),IF(OR(AND(VALUE(RIGHT(G101,2))<VALUE(RIGHT(BA101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(MID(BA101,FIND(\"_\",BA101)-2,2))),AND(VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(RIGHT(BA101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))<=VALUE(MID(BA101,FIND(\"_\",BA101)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},{"$f":"(AY101-AX101)/AX101","v":-0.009222201114231318},0,0,0,"No Branch Point motif found in this sequence",-38,-31,0.6597443223,0.5646443367,"c.1897-38",{"$f":"IF(FIND(\"-\",BL101)=3,\"c.-\"&MID(BL101,FIND(\"-\",BL101)+1,FIND(\"-\",MID(BL101,FIND(\"-\",BL101)+1,LEN(BL101))))&VALUE(RIGHT(BL101,2))+2&\"_\"&\"c.-\"&MID(BL101,FIND(\"-\",BL101)+1,FIND(\"-\",MID(BL101,FIND(\"-\",BL101)+1,LEN(BL101))))&VALUE(RIGHT(BL101,2))-1,MID(BL101,1,FIND(\"-\",BL101))&VALUE(RIGHT(BL101,2))+2&\"_\"&MID(BL101,1,FIND(\"-\",BL101))&VALUE(RIGHT(BL101,2))-1)","v":"c.1897-40_c.1897-37"},{"$f":"IF(AND(VALUE(RIGHT(G101,2))>=VALUE(RIGHT(BM101,2)),VALUE(RIGHT(G101,2))<=VALUE(MID(BM101,FIND(\"_\",BM101)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G101))),IF(OR(AND(VALUE(RIGHT(G101,2))<VALUE(RIGHT(BM101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(MID(BM101,FIND(\"_\",BM101)-2,2))),AND(VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(RIGHT(BM101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))<=VALUE(MID(BM101,FIND(\"_\",BM101)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},{"$f":"IF(BJ101=\"\",\"NA\",(BK101-BJ101)/BJ101)","v":-0.14414672833933986},-38,-38,78.66,70.92,"c.1897-38",{"$f":"IF(FIND(\"-\",BT101)=3,\"c.-\"&MID(BT101,FIND(\"-\",BT101)+1,FIND(\"-\",MID(BT101,FIND(\"-\",BT101)+1,LEN(BT101))))&VALUE(RIGHT(BT101,2))+2&\"_\"&\"c.-\"&MID(BT101,FIND(\"-\",BT101)+1,FIND(\"-\",MID(BT101,FIND(\"-\",BT101)+1,LEN(BT101))))&VALUE(RIGHT(BT101,2))-1,MID(BT101,1,FIND(\"-\",BT101))&VALUE(RIGHT(BT101,2))+2&\"_\"&MID(BT101,1,FIND(\"-\",BT101))&VALUE(RIGHT(BT101,2))-1)","v":"c.1897-40_c.1897-37"},{"$f":"IF(AND(VALUE(RIGHT(G101,2))>=VALUE(RIGHT(BU101,2)),VALUE(RIGHT(G101,2))<=VALUE(MID(BU101,FIND(\"_\",BU101)-2,2))),\"Yes\",IF(NOT(ISERROR(FIND(\"_\",G101))),IF(OR(AND(VALUE(RIGHT(G101,2))<VALUE(RIGHT(BU101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(MID(BU101,FIND(\"_\",BU101)-2,2))),AND(VALUE(MID(G101,FIND(\"_\",G101)-2,2))>=VALUE(RIGHT(BU101,2)),VALUE(MID(G101,FIND(\"_\",G101)-2,2))<=VALUE(MID(BU101,FIND(\"_\",BU101)-2,2)))),\"Yes\",\"No\"),\"No\"))","v":"No"},{"$f":"IF(BR101=\"\",\"NA\",(BS101-BR101)/BR101)","v":-0.09839816933638437}]
["MLH1_c.307-19A>G","chr3","+","MLH1","NM_000249","intron 3","c.307-19",37045873,-19,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.9,11.67,0.07064220183486235,87.72,87.72,0,19,1,1,0,1,0.716684330865868,0.716684330865868,0.5,0.5,"c.307-24","c.307-26_c.307-23","No",0,"CTTTCAG","CTTTCAG",29,29,5.64044820092243,5.65685424949237,"c.307-24","c.307-26_c.307-23","No",0.002908642715175892,54,54,"gggtgaccc","gggtgaccc",1.3882753,1.3882753,"c.307-47","c.307-49_c.307-46","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-24,-24,0.727055728436,0.773851573467,"c.307-24","c.307-26_c.307-23","No",0.06436349127138367,-24,-24,86.19,89.77,"c.307-24","c.307-26_c.307-23","No",0.041536141083652375]
["MLH1_c.307-29C>A","chr3","+","MLH1","NM_000249","intron 3","c.307-29",37045863,-29,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.9,10.9,0,87.72,87.72,0,29,1,1,0,0,0.716684330865868,0.716684330865868,0.5,0.5,"c.307-24","c.307-26_c.307-23","No",0,"CTTTCAG","TTTTTAT",29,34,5.64044820092243,5.32094708614482,"c.307-24","c.307-26_c.307-23","No",-0.05664463237608664,54,85,"gggtgaccc","agataacct",1.3882753,1.1667507,"c.307-47","c.307-49_c.307-46","No",-0.1595682066806203,70.07,65.82,{"$f":"IF(BD103=0,0,(BE103-BD103)/BD103)","v":-0.060653632082203514},"Site broken",-24,-29,0.727055728436,0.768411397934,"c.307-24","c.307-26_c.307-23","No",0.05688101734231842,-24,-24,86.19,84.78,"c.307-24","c.307-26_c.307-23","No",-0.016359206404455234]
["MLH1_c.381-43C>G","chr3","+","MLH1","NM_000249","intron 4","c.381-43",37048439,-43,"substitution",1,"minigene","Inserm U1245","No","no effect",0,7.22,7.22,0,84.08,84.08,0,43,1,2,0,1,0.768523438668955,0.750924953796045,1.5,0.5,"c.381-22","c.381-24_c.381-21","No",-0.022899086725825517,"TATTAAT","TATTAAT",27,27,7.4800049344101,7.48000299684957,"c.381-22","c.381-24_c.381-21","No",-2.5903198551157895E-7,84,84,"tgttgatat","tgttgatat",0.76498603,0.76089779,"c.381-77","c.381-79_c.381-76","No",-0.005344202167979414,0,0,0,"No Branch Point motif found in this sequence",-22,-22,0.835442066193,0.830349385738,"c.381-22","c.381-24_c.381-21","No",-0.006095791271567968,-22,-22,89.24,89.42,"c.381-22","c.381-24_c.381-21","No",0.002017032720753102]
["MLH1_c.589-25G>A","chr3","+","MLH1","NM_000249","intron 7","c.589-25",37053477,-25,"substitution",1,"minigene","Inserm U1245","No","no effect",0,7.35,7.35,0,86.51,86.51,0,25,0,1,0,1,0.311019040962712,0.73089997101122,"NA",0.1,"c.589-32","c.589-34_c.589-31","No",1.350016798807014,"CAATAAA","CAATAAA",37,37,6.89536940286472,6.49219730830869,"c.589-32","c.589-34_c.589-31","No",-0.05846997760388734,39,39,"caataaatc","caataaatc",0.94450049,0.94450049,"c.589-32","c.589-34_c.589-31","No",0,0,0,0,"No Branch Point motif found in this sequence",-33,-25,0.410271376371,0.902496933937,"c.589-33","c.589-35_c.589-32","No",1.1997560295819678,-33,-25,57.43,91.28,"c.589-33","c.589-35_c.589-32","No",0.5894131986766499]
["MLH1_c.885-24T>A","chr3","+","MLH1","NM_000249","intron 10","c.885-24",37061777,-24,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.46,10.46,0,89.4,89.4,0,24,2,2,0,0,0.825057349560514,0.825057349560514,1.5,1.5,"c.885-26","c.885-28_c.885-25","No",0,"AGGTAAT","AGGTAAT",31,31,5.99383350902388,5.44232818052801,"c.885-26","c.885-28_c.885-25","No",-0.0920121200673265,33,33,"aggtaattg","aggtaatag",1.0217749,0.74464868,"c.885-26","c.885-28_c.885-25","No",-0.2712204224237648,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-26,-24,0.616342008114,0.549009799957,"c.885-26","c.885-28_c.885-25","No",-0.10924487909405325,-26,-26,73.07,74.26,"c.885-26","c.885-28_c.885-25","No",0.01628575338716316]
["MSH2_c.1662-43C>T","chr2","+","MSH2","NM_000251","intron 10","c.1662-43",47698061,-43,"substitution",1,"minigene","Inserm U1245","No","no effect",0,8.01,8.01,0,85.46,85.46,0,43,1,1,0,0,0.687624244087857,0.687624244087857,0.8,0.8,"c.1662-25","c.1662-27_c.1662-24","No",0,"TTTTAAT","TTTTAAT",39,39,6.5376952393131,6.53769623112747,"c.1662-34","c.1662-36_c.1662-33","No",1.5170703634759315E-7,41,41,"ttttaatat","ttttaatat",0.41767524,0.41767524,"c.1662-34","c.1662-36_c.1662-33","No",0,72.63,48.78,-0.3283767038413878,"Site broken",-25,-25,0.507043659687,0.563860595226,"c.1662-25","c.1662-27_c.1662-24","No",0.11205531210877032,-25,-25,56.71,61.33,"c.1662-25","c.1662-27_c.1662-24","No",0.08146711338388286]
["MSH6_c.3173-18T>A","chr2","+","MSH6","NM_000179","intron 4","c.3173-18",48030541,-18,"substitution",1,"minigene","Inserm U1245","No","no effect",0,12.58,11.67,-0.07233704292527823,88.43,88.43,0,18,1,2,0,0,0.901082937111426,0.869192770394674,0.2,2,"c.3173-23","c.3173-25_c.3173-22","No",-0.03539093395662476,"GCCTCAC","CTTTAAC",28,22,5.73317602282743,4.54083007552542,"c.3173-23","c.3173-25_c.3173-22","No",-0.20797302272850512,30,24,"gcctcactt","ctttaaccc",1.5063536,1.5531974,"c.3173-23","c.3173-25_c.3173-22","No",0.03109747937004963,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-23,-23,0.91985809803,0.894324958324,"c.3173-23","c.3173-25_c.3173-22","No",-0.027757694105952392,-23,-23,93.98,91.7,"c.3173-23","c.3173-25_c.3173-22","No",-0.02426048095339435]
["MSH6_c.3557-40T>A","chr2","+","MSH6","NM_000179","intron 6","c.3557-40",48032717,-40,"substitution",1,"minigene","Inserm U1245","No","no effect",0,10.29,10.29,0,89.4,89.4,0,40,1,1,1,0,0.889330386774497,0.889330386774497,0.5,0.5,"c.3557-24","c.3557-26_c.3557-23","No",0,"TTGTGAT","TTGTGAT",22,22,4.2682710789355,4.2682993559607,"c.3557-17","c.3557-19_c.3557-16","No",6.6249365789198848E-6,24,24,"ttgtgattt","ttgtgattt",0.73875692,0.73875692,"c.3557-17","c.3557-19_c.3557-16","No",0,0,0,0,"No Branch Point motif found in this sequence",-24,-24,0.941805183887,0.940591514111,"c.3557-24","c.3557-26_c.3557-23","No",-1.288663299761189E-3,-24,-24,97.03,96.67,"c.3557-24","c.3557-26_c.3557-23","No",-3.7101927238998187E-3]
["NPC1_c.882-28A>G","chr18","-","NPC1","NM_000271","intron 6","c.882-28",21137182,-28,"substitution",1,"minigene","Leo ED, Panico F, Tarugi P, Battisti C, Federico A, Calandra S. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. Human Mutation [Internet]. 2004;24(5):440–440. Available from: https://www.onlinelibrary.wiley.com/doi/abs/10.1002/humu.9287","Yes","skipping exon 7",1,9.58,9.58,0,91.36,91.36,0,28,1,1,0,0,0.862055648489182,0.862055648489182,5.2,5.2,"c.882-28","c.882-30_c.882-27","Yes",0,"CACTAAT","TCTTCAC",33,20,6.69672778225515,6.07860816443309,"c.882-28","c.882-30_c.882-27","Yes",-0.09230173868795144,35,22,"cactaatgc","tcttcactt",2.1183852,0.66092579,"c.882-28","c.882-30_c.882-27","Yes",-0.6880049058122197,77.41,47.79,-0.3826379020798346,"Site broken",-28,-23,0.839570045471,0.710686922073,"c.882-28","c.882-30_c.882-27","Yes",-0.15351086439213824,-28,-23,93.22,76.76,"c.882-28","c.882-30_c.882-27","Yes",-0.17657155116927692]
["NTRK1_c.851-33T>A","chr1","+","NTRK1","NM_002529","intron 7","c.851-33",156843392,-33,"substitution",1,"minigene","Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, et al. Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Hum Genet [Internet]. 2000 Jan 1;106(1):116–24. Available from: https://doi.org/10.1007/s004399900205","Yes","use of 3 ss 137 nt upstream of physiological ss",1,9.07,9.07,0,84.48,84.48,0,33,1,2,1,1,0.912394822467113,0.868489459001389,3.3,3.3,"c.851-31","c.851-33_c.851-30","Yes",-0.04812101338651185,"CCCTGAC","CGCCCAG",36,38,7.14142842647546,6.40312423682,"c.851-31","c.851-33_c.851-30","Yes",-0.10338326530282656,38,"NA","ccctgacct","NA",2.5896148,0,"c.851-31","c.851-33_c.851-30","Yes",-1,95.07,79.98,-0.15872514988955497,null,-31,-27,0.932640612125,0.526290476322,"c.851-31","c.851-33_c.851-30","Yes",-0.435698521509953,-31,-31,93.8,61.52,"c.851-31","c.851-33_c.851-30","Yes",-0.34413646055437097]
["PALB2_c.2515-39A>G","chr16","-","PALB2","NM_024675","intron 5","c.2515-39",23640635,-39,"substitution",1,"Paxgene","CFB","No","no effect",0,9.47,9.47,0,93.46,93.46,{"$f":"(U112-T112)/T112","v":0},39,2,2,1,0,0.957487924297546,0.957487924297546,3.3,3.3,"c.2515-24","c.2515-26_c.2515-23","No",0,"GACTAAT","GACTAAT",29,29,5.89156439138974,5.89157354146012,"c.2515-24","c.2515-26_c.2515-23","No",1.553079924404591E-6,23,23,"atgtgactt","atgtgactt",1.0656345,1.0656345,"c.2515-16","c.2515-18_c.2515-15","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-24,-24,0.913100242615,0.912070393562,"c.2515-24","c.2515-26_c.2515-23","No",-1.1278597956020815E-3,-24,-24,93.99,94.11,"c.2515-24","c.2515-26_c.2515-23","No",0.001276731567188047]
["PALB2_c.2587-36A>G","chr16","-","PALB2","NM_024675","intron 6","c.2587-36",23637754,-36,"substitution",1,"paxgene","CFB","No","no effect",0,3.31,3.31,0,76.19,76.19,{"$f":"(U113-T113)/T113","v":0},36,2,2,0,0,0.829104805970538,0.880376045416744,3.2,3.2,"c.2587-24","c.2587-26_c.2587-23","No",0.061839274211163885,"CTTTAAC","CTTTAAC",29,29,5.47492697707799,5.47492697707799,"c.2587-24","c.2587-26_c.2587-23","No",0,31,31,"ctttaacag","ctttaacag",0.63247539,0.63247539,"c.2587-24","c.2587-26_c.2587-23","No",0,0,0,0,"No Branch Point motif found in this sequence",-24,-24,0.782648026943,0.782464981079,"c.2587-24","c.2587-26_c.2587-23","No",-2.3388018329893094E-4,-24,-24,81.49,80.13,"c.2587-24","c.2587-26_c.2587-23","No",-0.016689164314639827]
["PTEN_c.210-39A>G","chr10","+","PTEN","NM_000314","intron 3","c.210-39",89690764,-39,"substitution",1,"minigene","Inserm U1245","No","no effect",0,8.39,8.39,0,80.88,80.88,{"$f":"(U114-T114)/T114","v":0},39,1,1,0,1,0.577421391705303,0.577522207778476,0.8,0.8,"c.210-26","c.210-28_c.210-25","No",1.7459705272638906E-4,"AGATAAC","AGATAAC",36,36,6.52454842773894,6.52454814390253,"c.210-31","c.210-33_c.210-30","No",-4.3502843550109064E-8,21,21,"ttttaaact","ttttaaact",0.55824981,0.55824981,"c.210-14","c.210-16_c.210-13","No",0,0,0,0,"No difference between mutant and reference sequence was found with this matrice",-31,-26,0.492138564587,0.520809531212,"c.210-31","c.210-33_c.210-30","No",0.058257914920893335,-31,-31,74.07,64.04,"c.210-31","c.210-33_c.210-30","No",-0.1354124476846225]
["RAD51C_c.572-23_572-20del","chr17","+","RAD51C","NM_058216","intron 3","c.572-23_572-20",56780534,-23,"del",1,"Paxgene","CFB","No","skipping Exon 4 ",1,7.43,7.43,0,94.73,94.73,{"$f":"(U115-T115)/T115","v":0},23,0,0,0,0,"NA","NA","NA","NA","c.572-24","c.572-26_c.572-23","Yes","NA","AACTAAT","AACTAAG",29,25,5.08862730596594,4.48487945746983,"c.572-24","c.572-26_c.572-23","Yes",-0.11864650566730876,31,27,"aactaatta","aactaagag",0.44195572,0.48304916,"c.572-24","c.572-26_c.572-23","Yes",0.09298089862939206,68.44,4.25,-0.9379018118059614,"Site broken",-24,-20,0.898183166981,0.697565674782,"c.572-24","c.572-26_c.572-23","Yes",-0.22335922067357533,-24,-20,96.63,81.75,"c.572-24","c.572-26_c.572-23","Yes",-0.15398944427196518]
["RAD51C_c.838-25A>G","chr17","+","RAD51C","NM_058216","intron 5","c.838-25",56798082,-25,"substitution",1,"Paxgene","CFB","No","no effect",0,10.17,10.17,0,91.79,91.79,{"$f":"(U116-T116)/T116","v":0},25,2,2,1,0,0.874274074127462,0.870558338029537,1.6,1.6,"c.838-30","c.838-32_c.838-29","No",-0.004250081533795269,"ACCTAAT","GACTCAC",30,35,4.70773814038903,5.74305736171606,"c.838-25","c.838-27_c.838-24","Yes",0.21991860856591205,37,37,"gactcacct","gactcacct",1.9764705,1.9764705,"c.838-30","c.838-32_c.838-29","No",0,80.03,50.4,-0.37023616143946025,"Site broken",-30,-30,0.766939520836,0.950052559376,"c.838-30","c.838-32_c.838-29","No",0.23875812051046494,-30,-30,88.09,97.61,"c.838-30","c.838-32_c.838-29","No",0.10807129072539444]
["RB1_c.2326-26A>C","chr13","+","RB1","NM_000321","intron 22","c.2326-26",49039315,-26,"substitution",1,"LCL","Houdayer C, Dehainault C, Mattler C, Michaux D, Caux‐Moncoutier V, Pagès‐Berhouet S, et al. Evaluation of in silico splice tools for decision-making in molecular diagnosis. Human Mutation [Internet]. 2008;29(7):975–82. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.20765","Yes","skipping Exon 24",1,9.26,9.26,0,84.58,84.58,0,26,1,0,0,1,0.520518948690189,0.484982287506464,0,"NA","c.2326-25","c.2326-27_c.2326-24","Yes",-0.0682715994742322,"AAATAAT","CATTAAA",30,38,8.35164819717773,6.49936072866037,"c.2326-25","c.2326-27_c.2326-24","Yes",-0.22178705625355516,32,36,"aaataatct","aaataaatc",1.0151518,0.67392832,"c.2326-25","c.2326-27_c.2326-24","Yes",-0.33613049792159155,0,0,0,"No Branch Point motif found in this sequence",-33,-25,0.300201237202,0.427970409393,"c.2326-33","c.2326-35_c.2326-32","No",0.425611744248164,-25,-25,46.59,48.78,"c.2326-25","c.2326-27_c.2326-24","Yes",0.04700579523502892]
["RHD_c.1154-31T>C","chr1","+","RHD","NM_016124","intron 8","c.1154-31",25648349,-31,"substitution",1,"minigene","Inserm U1078","No","no effect",0,6.15,6.15,0,76.54,76.54,0,31,2,2,0,0,0.769314632511785,0.769314632511785,3,3,"c.1154-24","c.1154-26_c.1154-23","No",0,"GATTAAA","GATTAAT",54,66,6.81854275915348,5.71891604773673,"c.1154-49","c.1154-51_c.1154-48","No",-0.1612700470258939,56,56,"gattaaaaa","gattaaaaa",-0.025100142,-0.025100142,"c.1154-49","c.1154-51_c.1154-48","No",0,67.67,71.56,0.057484852962908235,null,-24,-24,0.806923210621,0.791767954826,"c.1154-24","c.1154-26_c.1154-23","No",-0.018781534098314828,-24,-24,84.98,86.97,"c.1154-24","c.1154-26_c.1154-23","No",0.023417274652859435]
["SLC40A1_c.112-28del","chr2","-","SLC40A1","NM_014585","intron 2","c.112-28",190440074,-28,"del",1,"minigene","Inserm U1078","No","no effect",0,9.41,9.41,0,87.62,87.62,0,28,0,0,0,0,"NA","NA","NA","NA","c.112-28","c.112-30_c.112-27","Yes","NA","CCATCAA","TCCTCAA",30,30,7.17764084081351,7.27171495368213,"c.112-25","c.112-27_c.112-24","No",0.013106550599982085,32,32,"ccatcaaaa","tcctcaaaa",-0.46016428,0.41829289,"c.112-25","c.112-27_c.112-24","No",-1.9090077352375112,67.66,48.68,-0.2805202483003251,"Site broken",-28,-25,0.738606214523,0.8456351161,"c.112-28","c.112-30_c.112-27","Yes",0.14490658144017973,-28,-25,89.03,81.32,"c.112-28","c.112-30_c.112-27","Yes",-0.08660002246433796]
["TH_c.1198-24T>A","chr11","-","TH","NM_199292","intron 11","c.1198-24",2187017,-24,"substitution",1,"fibroblasts","Janssen RJRJ, Wevers RA, Häussler M, Luyten J a. FM, Steenbergen‐Spanjers GCH, Hoffmann GF, et al. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Annals of Human Genetics [Internet]. 2000;64(5):375–82. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1046/j.1469-1809.2000.6450375.x","Yes","use of 3 ss 36 nt upstream of physiological ss and skipping exon 12",1,8.59,8.59,0,80.46,80.46,{"$f":"(U120-T120)/T120","v":0},24,0,0,0,0,"NA","NA","NA","NA","c.1198-22","c.1198-24_c.1198-21","Yes","NA","GGCTGAT","TGCTGCC",27,21,6.78232998312526,5.54282824037678,"c.1198-22","c.1198-24_c.1198-21","Yes",-0.18275456160824022,29,69,"ggctgatgc","gggtgacca",1.6290138,-1.2512133,"c.1198-22","c.1198-24_c.1198-21","Yes",-1.7680802335744483,84.96,69.88,-0.17749529190207156,null,-22,-16,0.856147110462,0.764705598354,"c.1198-22","c.1198-24_c.1198-21","Yes",-0.10680584094789003,-22,-15,89.93,42.37,"c.1198-22","c.1198-24_c.1198-21","Yes",-0.528855776715223]
["TSC2_c.4760-18A>G","chr16","+","TSC2","NM_001318827","intron 36","c.4760-18",2138031,-18,"substitution",1,"LCL","Mayer K, Ballhausen W, Leistner W, Rott H-D. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences11Accession numbers and URLs for data in this article are as follows: Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/omim. For TSC1 (MIM 191100) and TSC2 (MIM 191092). The Human Gene Mutation Data Base, Cardiff (HGMD): http://www.uwcm.acuk/uwcm/mg. For TSC1 120735 and for TSC2 120466. TSC Variation Database: http://www.expmed.bwh.harvard.edu/projects/tsc_database. GenBank: http://www.ncbi.nlm.nih.gov/Genbank. For TSC2 cDNA X75621 and TSC2 complete genomic sequence AC005600. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease [Internet]. 2000 Nov 15;1502(3):495–507. Available from: http://www.sciencedirect.com/science/article/pii/S0925443900000727","Yes","retention intron 38 and use of 3 ss 74 nt downstream of physiological ss",1,1.19,0.36,-0.6974789915966386,0,0,0,18,1,1,1,0,0.832537195337928,0.832537195337928,1.5,1.5,"c.4760-18","c.4760-20_c.4760-17","Yes",0,"GCGTGAC","CACCAAG",23,16,4.3585151265936,3.47487059457167,"c.4760-18","c.4760-20_c.4760-17","Yes",-0.20273981077416686,25,"NA","gcgtgacca","NA",0.016293255,0,"c.4760-18","c.4760-20_c.4760-17","Yes",-1,67.71,38.08,-0.43760153596219165,"Site broken",-18,-15,0.884150266647,0.190765947104,"c.4760-18","c.4760-20_c.4760-17","Yes",-0.7842380935681333,-18,-15,90.38,22.39,"c.4760-18","c.4760-20_c.4760-17","Yes",-0.7522682009294092]
["UROS_c.661-31T>G","chr10","-","UROS","NM_000375","intron 9","c.661-31",127477605,-31,"substitution",1,"LCL","Bishop DF, Schneider-Yin X, Clavero S, Yoo H-W, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood [Internet]. 2010 Feb 4;115(5):1062–9. Available from: http://www.bloodjournal.org/content/115/5/1062","Yes","multiple effect increase alternative splicing",1,10.29,10.29,0,82.76,82.76,{"$f":"(U122-T122)/T122","v":0},31,0,0,0,0,"NA","NA","NA","NA","c.661-29","c.661-31_c.661-28","Yes","NA","TGCTGAA","GTGTGCG",34,37,6,5.9428428805686,"c.661-29","c.661-31_c.661-28","Yes",-0.0095261865719,36,90,"tgctgaagc","ggctgacgg",1.4685099,0.83415491,"c.661-29","c.661-31_c.661-28","Yes",-0.4319718852423126,82.34,67.26,-0.18314306533883892,null,-28,-29,0.75240534544,0.403576761484,"c.661-28","c.661-30_c.661-27","No",-0.463617897015349,-29,-29,84.09,50.63,"c.661-29","c.661-31_c.661-28","Yes",-0.39790700440004756]
["VWF_c.6599-20A>T","chr12","-","VWF","NM_000552","intron 37","c.6599-20",6101204,-20,"substitution",1,"Blood","Hawke L, Bowman ML, Poon M-C, Scully M-F, Rivard G-E, James PD. Characterization of aberrant splicing of von Willebrand factor (VWF) in von Willebrand disease (VWD): an under-recognized mechanism. Blood [Internet]. 2016 Jan 1;blood-2015-10-678052. Available from: http://www.bloodjournal.org/content/early/2016/06/17/blood-2015-10-678052","Yes","skipping exon 38",1,11.17,10.91,-0.023276633840644566,89.06,89.06,{"$f":"(U123-T123)/T123","v":0},20,2,1,0,0,0.727435644993529,0.70542614446014,2.8,2.8,"c.6599-20","c.6599-22_c.6599-19","Yes",-0.030256285466441234,"AAGTGAC","TTGCAAG",25,29,5.65685149327864,5.65685424947371,"c.6599-20","c.6599-22_c.6599-19","Yes",4.87231293533476e-07,27,84,"aagtgacct","gattaacca",1.566012,0.43190937,"c.6599-20","c.6599-22_c.6599-19","Yes",-0.7241979180236167,0,0,0,"No Branch Point motif found in this sequence",-20,-25,0.715206980705,0.658259510994,"c.6599-20","c.6599-22_c.6599-19","Yes",-0.07962376101931389,-20,-25,84.47,64.56,"c.6599-20","c.6599-22_c.6599-19","Yes",-0.23570498401799453]
["XPC_c.413-24A>G","chr3","-","XPC","NM_004628","intron 3","c.413-24",14209904,-24,"substitution",1,"LCL","Khan SG, Yamanegi K, Zheng Z-M, Boyle J, Imoto K, Oh K-S, et al. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients. Human Mutation [Internet]. 2010;31(2):167–75. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21166","Yes","skipping Exon 4 ",1,3.09,3.09,0,71.97,71.97,0,24,0,0,0,0,"NA","NA","NA","NA","c.413-24","c.413-26_c.413-23","Yes","NA","TACTGAT","TTATTAC",29,39,7.65762547310235,4.64404671410404,"c.413-24","c.413-26_c.413-23","Yes",-0.3935395860745083,31,77,"tactgattt","ccttgattc",1.0276313,0.76640625,"c.413-24","c.413-26_c.413-23","Yes",-0.25420114198545724,82.78,53.15,-0.3579366996859145,"Site broken",-24,-31,0.762867152691,0.531989693642,"c.413-24","c.413-26_c.413-23","Yes",-0.3026443834088071,-24,-31,82.97,82.12,"c.413-24","c.413-26_c.413-23","Yes",-0.010244666747016925]

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1015874,0],[1015875,0,1015882,0],[1032192,0,1032207,0],[1032208,0,1032213,0],[1032214,0,1032226,0],[1032227,0,1032236,0],[1032237,0,1032246,0],[1032247,0,1032250,0],[1032251,0,1032258,0],[1032259,0,1032266,0]]}
["General information","ID","Name of variant"]
[null,"chr","Chromosome"]
[null,"strand","Strand of transcript (+: forward, -: reverse)"]
[null,"gene","Gene Name"]
[null,"transcript","Transcript ID (RefSeq)"]
[null,"intron","Intron number"]
[null,"cNomen","Transcriptomic coordinate"]
[null,"gNomen","Genomic coordinate (hg19)"]
[null,"distSS","Distance between variant and Acceptor site"]
[null,"varType","Type of mutation"]
[null,"nb_analyse","Number of study for the variant"]
[null,"Assay.Method","Materiel and Method used"]
[null,"Authora","The contributor"]
[null,"published","If the RNA studies were published or not"]
[null,"Result","Overall impact of variant on splicing"]
[null,"class_effect","Class of splicing alteration (0: no impact, 1: splicing alteration)"]
["Acceptor consensus score","MES_wt","MES score of acceptor splice site (wildType)"]
[null,"MES_mut","MES score of acceptor splice site (mutated)"]
[null,"delta_MES","Delta MES score"]
[null,"SSF_wt","SSF-like score of acceptor splice site (wildType)"]
[null,"SSF_mut","SSF-like score of acceptor splice site (mutated)"]
[null,"delta_SSF","Delta SSF-like score"]
["Branchpointer scores","to_3prime","Distance between variant and Acceptor site"]
[null,"BP_num_REF","Number of branch point found by branchpointer (wildType)"]
[null,"BP_num_ALT","Number of branch point found by branchpointer (mutated)"]
[null,"deleted_n","Number of deleted branch points (branchpointer)"]
[null,"created_n","Number of created branch points (branchpointer)"]
[null,"max_prob_REF","Branchpointer score, maximal value (wildType) "]
[null,"max_prob_ALT","Branchpointer score, maximal value (mutated) "]
[null,"max_U2_REF","U2 score (acceptor site, wildType)"]
[null,"max_U2_ALT","U2 score (acceptor site, mutated)"]
[null,"PosPB_Branch","Position of branch point with maximal score"]
[null,"ProbPBarea_Branch","Interval of 4-mer motif of branch point"]
[null,"MutInPBarea_Branch","If variant was in the 4-mer of branch point"]
[null,"Delta_prob","Delta Branchpointer score"]
["BPP score","bps_WT","Sequence of wildType Branch point with maximal score"]
[null,"bps_MUT","Sequence of mutated Branch point with maximal score"]
[null,"bp_pos_WT","Relative position of branch point to the acceptor site (wildType)"]
[null,"bp_pos_MUT","Relative position of branch point to the acceptor site (mutated)"]
[null,"zsc_WT","BPP score (wildType)"]
[null,"zsc_MUT","BPP score (mutated)"]
[null,"PosPB_BPP","Position of branch point with maximal score"]
[null,"ProbPBarea_BPP","Interval of 4-mer motif of branch point"]
[null,"MutInPBarea_BPP","If variant was in the 4-mer of branch point"]
[null,"Delta_BPP","Delta score of BPP"]
["SVM BPfinder score","ss_dist_WT","Relative position of branch point to the acceptor site (wildType)"]
[null,"ss_dist_MUT","Relative position of branch point to the acceptor site (mutated)"]
[null,"bp_seq_WT","Sequence of wildType Branch point with maximal score"]
[null,"bp_seq_MUT","Sequence of mutated Branch point with maximal score"]
[null,"svm_scr_WT","SVM-BPfinder score (wildType)"]
[null,"svm_scr_MUT","SVM-BPfinder score (mutated)"]
[null,"PosPB_SVM","Position of branch point with maximal score"]
[null,"ProbPBarea_SVM","Interval of 4-mer motif of branch point"]
[null,"MutInPBarea_SVM","If variant was in the 4-mer of branch point"]
[null,"Delta_SVM","Delta score of SVM-BPfinder"]
["HSF3","score_wt","HSF score (wildType)"]
[null,"score_mut","HSF score (mutated)"]
[null,"delta_HSF","Delta score of HSF"]
[null,"interpret","Overall prediction of HSF"]
["LaBranchoR","LB_pos_WT","Relative position of branch point to the acceptor site (wildType)"]
[null,"LB_pos_MUT","Relative position of branch point to the acceptor site (mutated)"]
[null,"LB_score_WT","LaBranchoR score (wildType)"]
[null,"LB_score_MUT","LaBranchoR score (mutated)"]
[null,"PosPB_LB","Position of branch point with maximal score"]
[null,"ProbPBarea_LB","Interval of 4-mer motif of branch point"]
[null,"MutInPBarea_LB","If variant was in the 4-mer of branch point"]
[null,"Delta_LB","Delta score of LaBranchor"]
["RNABPS","RBPS_posA_WT","Relative position of branch point to the acceptor site (wildType)"]
[null,"RBPS_posA_MUT","Relative position of branch point to the acceptor site (mutated)"]
[null,"RBPS_score_WT","RNABPS score (wildType)"]
[null,"RBPS_score_MUT","RNABPS score (mutated)"]
[null,"PosPB_RBPS","Position of branch point with maximal score"]
[null,"ProbPBarea_RBPS","Interval of 4-mer motif of branch point"]
[null,"MutInPBarea_RBPS","If variant was in the 4-mer of branch point"]
[null,"Delta_RBPS","Delta score of RNABPS"]
[]
["a Authors:","CBCS","Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"]
[null,"CFB","Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, France"]
[null,"CPS","Laboratoire d’Oncogénétique, Centre Paul Strauss, Strasbourg, France"]
[null,"IB","Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, Bordeaux, France"]
[null,"IC","Service de Génétique, Institut Curie, Paris, France"]
[null,"IGR","Service de Génétique, Institut Gustave Roussy, Villejuif, France"]
[null,"Inserm U1028","Lyon Neuroscience Research Center–CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, Lyon, France"]
[null,"Inserm U1078","Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France"]
[null,"Inserm U1245","Genetics Department, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France"]
{"$rows_empty":16299}
["General information"]
{"$rows_empty":15}
["Acceptor consensus score"]
[]
[]
[]
[]
[]
["Branchpointer scores"]
{"$rows_empty":12}
["BPP score"]
{"$rows_empty":9}
["SVM BPfinder score"]
{"$rows_empty":9}
["HSF3"]
[]
[]
[]
["LaBranchoR"]
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[]
[]
[]
[]
[]
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["BPP score"]
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["SVM BPfinder score"]
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[]
[]
[]
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[]
[]
[]
[]
[]
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[]
[]
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[]
[]
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[]
[]
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[]
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[]
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[]
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[]
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[]
[]
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[]
[]
[]
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