Supplementary Table 3. Description of Mutations Confirmed by Sequencing of Breakpoints

Supplementary Table 3. Description of mutations confirmed by sequencing of breakpoints.

sample ID breakpoints flanking sequences mutation BHM8901 46486/46487 48855/48856 AG TSC1.46487-48855del2369 TSC1del e21-e23 NO NO BHM15501 -9466/-9465 14050/14051 63260/63261 63297/63298 C, CCTG [TSC2.-9465_14050del23515; TSC2del 5'1-e12 NO NO NO NO -9466_14051ins37(inv63261_63297)] A22 -6412/-6411 27121/27122 TGCC TSC2.-6411_27121del33532 TSC2del 5'1-e21 NO NO A27 -1066/-1065 773/774 TSC2.-1065_773del1838 TSC2del e1 NO AluSx ONK010-1 1310/1311 35688/35689 GCA TSC2.1311_35688del34378 TSC2del e2-e33.1 NO NO TS00-115* 1649/1650 18854/18855 TGAGCCACC-Alu TSC2.1650_18854del17205 TSC2del e2-e15 AluSx AluJo BHM1501 2524/2525 7091/7092 GGATCACGAGGT TSC2.2525_7091del4567 TSC2del e3-e5 AluSg AluSg CAGGAGTTC-Alu ONK8440* 7935/7936 8610/8611 GGCAG TSC2.7936_8610del675 TSC2del e7-e8 NO NO TS00-226* 8222/8223 12003/12004 GGG [TSC2.8223_12003del3781; TSC2del e8-e9 NO NO 12032_12035dupAGCA] HOU05-05 11524/11525 22875/22876 insAA [TSC2.11525_22875del11351; TSC2del e10-e16 NO NO 22875_22876insAA] TS00-168 11697/11698 13398/13399 TGC TSC211698_13398del1701 TSC2del e10-e11 NO NO BHM4001 11841/11842 12306/12307 TC TSC2.11842_12306del465 TSC2del e10 NO NO BHM14501 13869/13870 13946/13947 CA TSC2.13870_13946del77 TSC2del e12 NO NO BHM17601 16556/16557 18088/18089 insAA [TSC2.16557_18088del1532; TSC2del e15 AluY AluSx 18088_18089insAA] HOU94-45 24213/24214 26739/26740 CTGGC TSC2.24214_26739del2526 TSC2del e20-e21 NO AluY BHM11601* 30042/30043 30185/30186 32931/32932 CCCAGAC...GTCT [TSC2.30043_30185inv143; TSC2del e26-e29 NO NO NO GGG palindrome 30186_32931del2746] ONK024-1 32484/32485 38081/38082 38156/38157 40427/40428 TC, CTG [TSC2.32485_38081del5597; TSC2del e30-e41 MLT1B NO NO NO 38082_38156inv75;38157_40427del2271] ONK7930 33108/33109 38325/38326 GCT TCS2.33109_38325del5217 TSC2del e30-e37 NO NO BHM11701 33532/33533 40363/40364 CCTG TSC2.33533_40363del6831 TSC2del e31-e41 NO NO BHM06801 36523/36524 47831/47832 TGC TSC2.36524_47831del11308 TSC2del e35-3'1 NO MER7A TS00-349 9040/9041 33863/33864 CCACTCCA TSC2.9041_33863dup24823 TSC2dup e9-e30 L2 NO ONK101-1* 38135-38149 39533/39534 40303/40304 insGTTTTC, insGT [TSC2.38148_38149insGTTTTC; TSC2dup e40-e41 NO NO NO 38148_38149ins770(39534_40303); 38148_38149insGT;38136_38148del13] Nucleotide position is described according to TSC1/TSC2 genomic sequences numbered from the 1st nucleotide of exon 1 (>hg18 chr9:134809829 and >hg18 chr16:2038600 for TSC1 and TSC2, respectively). *Mosaic mutations.