Supplemental Table S1. Details of mutations detected.
Case / Mutation 1 / Mutation 2 / Interp.cDNA change* / Predicted protein change† / cDNA change* / Predicted protein change†
1 / 21C>G / Y7X / Single
2 / 53_54dup / L19fs / 928_930dup / T310dup / Double
3 / 65_68dup / H24fs / Single
4 / 65_68dup / H24fs / 938_939insTCT / K313delinsNL / Double
5 / 67_68dup / H24fs / Single
6 / 68_78del / P23fs / Single
7 / 68_78del / P23fs / Single
8 / 68_78del / P23fs / 949_951dup / L317dup / Double
9 / 68_78del / P23fs / Single
10 / 68_78del / P23fs / Single
11 / 68delC / P23fs / Single
12 / 68delC / P23fs / Single
13 / 68delC / P23fs / Single
14 / 68delC / P23fs / 917_934del / R306_Q311del / Double
15 / 68delC / P23fs / Single
16 / 68delC / P23fs / Single
17 / 68dupC / H24fs / 323dupA / Y108fs / Double
18 / 68dupC / H24fs / Single
19 / 68dupC / H24fs / 905_928dup / K302_E309dup / Double
20 / 68dupC [HOM] / H24fs / Double
21 / 68dupC / H24fs / Single
22 / 68dupC / H24fs / 947_948insCAA / E316delinsDK / Double
23 / 68dupC / H24fs / 950_953delinsACCTTCTGCG / L317_T318delinsHLLR / Double
24 / 68dupC / H24fs / 937_938ins30 / Q312_K313insMKQGNVETQQ / Double
25 / 68dupC / H24fs / Single
26 / 68dupC / H24fs / 944T>C / L315P / Double
27 / 69_78del / H24fs / 931_936del / Q311_Q312del / Double
28 / 73_76dup / P26fs / Single
29 / 85_86del [HOM] / A29fs / Double
30 / 85_86dup / A30fs / 928_972dup / T310_L324dup / Double
31 / 87_89delinsG / A30fs / 949_951dup / L317dup / Double
32 / 87delC / A30fs / Single
33 / 93delinsGGCCTCCT / F31fs / Single
34 / 96_112del / F33fs / 934_939del / Q312_K313del / Double
35 / 107delG / G36fs / Single
36 / 108_109delinsA / A37fs / 934_939dup / Q312_K313dup / Double
37 / 111_121dup / Q41fs / 928_930dup / T310dup / Double
38 / 112_113dup / P39fs / 951_956del / T318_S319del / Double
39 / 113_120del / G38fs / 937_939del / K313del / Double
40 / 113_143dup / E50fs / 226G>T / E76X / Double‡
41 / 125_155del / P42fs / 937_939dup / K313dup / Double
42 / 130_131insG / A44fs / Single
43 / 130_131insGGAG / A44fs / 928_929insGGGACTCCA / E309_T310insRDS / Double
44 / 132_133insGGCG / P45fs / Single
45 / 132_133insGGCG [HOM] / P45fs / Double
46 / 134delC / P45fs / 937_939dup / K313dup / Double
47 / 143_147del / A48fs / 148dupG / E50fs / Double
48 / 146dupC / E50fs / Single
49 / 146dupC / E50fs / Single
50 / 147_148delinsTT / E50X / 338_388del / A113_P129del / Double
51 / 155_168del [HOM] / L52fs / Double
52 / 168_169delinsGCATCTGCA / C56fs / Single
53 / 174_184del / E59fs / 897_935dup / Q311_Q312insHRDKAKQRNVETQ / Double
54 / 175G>T [HOM] / E59X / Double
55 / 175G>T / E59X / 569C>A / S190X / Double
56 / 175G>T / E59X / Single
57 / 175G>T / E59X / Single
58 / 175G>T / E59X / Single
59 / 176_194del / E59fs / 907_951dup / A303_L317dup / Double
60 / 179delinsGT / T60fs / 937_939dup / K313dup / Double
61 / 180dupG / S61fs / 327_330del / G110fs / Double
62 / 180_183del / I62fs / 937_939dup / K313dup / Double
63 / 180_183del / I62fs / 937_939dup / K313dup / Double
64 / 180_183dup / I62fs / Single
65 / 180_189del / I62fs / 310_312del / G104del / Single + Variant
66 / 183_189del / I62fs / 937_939dup / K313dup / Double
67 / 185_203del / I62fs / 926_928dup / E309_T310insK / Double
68 / 197_219dup / N74fs / 917G>C / R306P / Double
69 / 197_219dup / N74fs / 917G>C / R306P / Double
70 / 198_201dup / I68fs / 878_880dup / N293fs / Double
71 / 198_201dup / I68fs / Single
72 / 198_201dup / I68fs / 936_959dup / S319_D320insEKVLELTS / Double
73 / 198dupC / Y67fs / Single
74 / 199_200dup / I68fs / 937_939del / K313del / Double
75 / 201_202insCCTGC / I68fs / 944_945insCCT / L315dup / Double
76 / 209_213dup / A72fs / Single
77 / 209dupC / A71fs / Single
78 / 215_216dup / F73fs / Single
79 / 232delC / L78fs / 436delC / L146fs / Double
80 / 233_234insAGGA / A79fs / 468_471dup / L158fs / Double
81 / 235delG / A79fs / 1066_1069del / N356fs / Double
82 / 238dupG / D80fs / Single
83 / 238dupG / D80fs / Single
84 / 245_246insGG [HOM] / F82fs / Double
85 / 247delC / Q83fs / 937_939dup / K313dup / Double
86 / 247delC / Q83fs / 949_951dup / L317dup / Double
87 / 247delC / Q83fs / 914_916dup / Q305dup / Double
88 / 247delC / Q83fs / 741_744dup / P249fs / Double
89 / 247delC / Q83fs / 830delC / S277fs / Double
90 / 247dupC [HOM] / Q83fs / Double
91 / 247dupC / Q83fs / Single
92 / 247dupC / Q83fs / 955_956ins51 / T318_S319insKLKQRNVETQQKVLELT / Double
93 / 259C>T / Q87X / Single
94 / 259C>T / Q87X / 945_946insAGG / L315_E316insR / Double
95 / 262C>T / Q88X / Single
96 / 265_266insT / E89fs / 925_931delins10 / E309_Q311delinsLKVK / Double
97 / 275dupA / A93fs / 926_929delinsG / E309_T310delinsG / Double
98 / 275dupA / A93fs / Single
99 / 283delG / V95fs / 513delG / K171fs / Double
100 / 313delG / D105fs / Single
101 / 316_317ins22 / F106fs / Single
102 / 318_319dup / D107fs / 946_948dup / E316dup / Double
103 / 318dupT / D107fs / 932A>C / Q311P / Double
104 / 322_323dup / P109fs / Single
105 / 324C>A / Y108X / Single
106 / 326dupC / A111fs / 937_939dup / K313dup / Double
107 / 332_339del / A111fs / 436dupC / L146fs / Double
108 / 332_339del / A111fs / 934_936dup / Q312dup / Double
109 / 333_334del / P112fs / 934_936dup / Q312dup / Double
110 / 345dupC / G116fs / 943_945dup / L315dup / Double
111 / 345dupC / G116fs / 934_936dup / Q312dup / Double
112 / 358_359dup / M120fs / 944_945insCAC / L315_E316insT / Double
113 / 358_359insA / M120fs / Single
114 / 383dupC / P129fs / Single
115 / 389_390dup / Y131fs / Single
116 / 396delC / C133fs / Single
117 / 435_436dup / L146fs / Single
118 / 436delC / L146fs / Single
119 / 441_442del / Y147X / Single
120 / 451_452insCTTCG / G151fs / Single
121 / 454delG / A152fs / Single
122 / 462_468dup / P157fs / Single
123 / 462_468dup / P157fs / Single
124 / 484dupC / Q162fs / Single
125 / 484dupC / Q162fs / Single
126 / 496G>T / E166X / 921_929del / N307_T310delinsK / Double
127 / 499dupG / E167fs / Single
128 / 529_533dup / F179fs / Single
129 / 542dupA / Y181X / Single
130 / 542dupA / Y181X / Single
131 / 611delC / P204fs / Single
132 / 611delC / P204fs / Single
133 / 611dupC / H205fs / Single
134 / 648dupC / T217fs / Single
135 / 666dupC / G223fs / Single
136 / 704delC / P235fs / Single
137 / 704dupC / H236fs / Single
138 / 707_713dup / A240fs / Single
139 / 726_729dup / A244fs / Single
140 / 735_741del / L246fs / 898C>T / R300C / Double
141 / 747delT / G250fs / Single
142 / 812_813dup / G272fs / 859_862dup / R289fs / Double§
143 / 868G>T [HOM] / E290X / Double
144 / 869_890dup / K298fs / Single
145 / 890G>C / R297P / Single
146 / 892A>C / K298Q / Single
147 / 904A>G / K302E / Single
148 / 915_1054dup / K352fs / Single
149 / 929_932dup / Q311fs / Single
150 / 937_939dup [HOM] / K313dup / Double
151 / 946_951del / E316_L317del / Single
152 / 949_974delinsTGGAA / L317_R325delinsWN / Single
153 / 962A>G / N321S / Single
154 / 967C>T / R323C / Single
155 / 971T>C / L324P / Single
156 / 989A>C / Q330P / Single
157 / 1004T>C / L335P / Single
158 / 1013T>C / L338P / Single
159 / 1027delC / R343fs / 914_916dup / Q305dup / Double
160 / 1073_1074dup / X359fs / Single
161 / 54C>G / H18Q / Variant
162 / 100C>T / P34S / Variant
163 / 225C>G / D75E / Variant¶
164 / 252C>G / H84Q / Variant||
165 / 308_313dup / G103_G104dup / Variant¶
166 / 311_313dup / G104dup / Variant¶
167 / 311_313dup / G104dup / Variant
168 / 311_313dup / G104dup / Variant
169 / 365G>A / G122E / Variant
170 / 527C>T / A176V / Variant
171 / 561_566dup / P188_P189dup / Variant
172 / 667G>A / G223S / Variant
173 / 724G>A / G242S / Variant
174 / 724G>A / G242S / Variant
175 / 751A>G / S251G / Variant
176 / 782C>G / P261R / Variant
177 / 827A>G / K276R / Variant
178 / 827A>G / K276R / Variant
179 / 827A>G / K276R / Variant
* Nucleotide numbering based on NM_004364.3 with nucleotide 1 as the A of the ATG translation initiation codon.
† Protein numbering based on NP_004355.2.
‡ This case harbored three mutations. The third mutation was: c.707_713dup, p.A240fs.
§ This case harbored three mutations. The third mutation was: c.979C>T, p.R327W.
¶ This variant was determined to be germline due to presence in remission specimens.
|| This variant was determined to be somatic due to absence in remission specimen.
del, deletion; delins, deletion + insertion; dup, duplication; fs, frameshift; ins, insertion; HOM, homozygous.