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1 ID STUDY PNUMBER sample_id_to_use Case_First_row_INCOMPLETE TP53&PIK3CA YES/NO Gene_Symbol_merged mut non-synonymous YES/NO common SNP YES/NO nonMUTnonSNP Chr__merged Chr__Band_merged location__intron_exon__merged pos_merged Amplicon_ID_merged Amplicon_Start_merged Amplicon_Stop_merged Amplicon_GC_content_merged ampEVAL_cat10_TUMOR_merged ampEVAL_cat10_BLOOD_merged type_merged ref_merged length_merged genotype_merged maf_merged gene_merged location_merged function_merged codon_merged exon_merged protein_merged coding coding_merged sift_merged polyphen_merged cosmic_merged dbsnp_merged pfam_merged phylop_merged sampleIDOriginal_T1 Run_ID_Common_T1 Reads_T1 sample_description_T1 TCC_T1 Mapped_Reads_T1 On_Target_T1 Mean_Depth_T1 Uniformity_T1 barcode_T1 pvalue_T1 coverage_T1 ref_coverage_T1 var1_coverage_T1 freqVAR1_T1 freqVAR1_T1_CAT Age_cat_years_at_50 MenopDiagn
2 97 HE10/00 10961 10-006   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in3-ex4 7579516 AMPL6795075395 7579475 7579618 52 2 3 SNV G 1 G/A   TP53 exonic synonymous GAT 4 WT 171C>T c.171C>T NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,52 10-006 PRO-12-20140408_1000_ 385 tumor 40 153151 67.89 259.3 77.32 IonXpress_001   379 321 58 0.15 10 - 20 <=50 Premenopausal
3 112 HE10/00 7108 10-007   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-007 PRO-12-20140408_1000_ 1172 tumor 45 536118 80.66 1113 81.82 IonXpress_002   1120 631 489 0.44 40 - 50 >50 Premenopausal
4 118 HE10/00 7108 10-007   YES TP53 YES NO other chr17 17p13.1 in9-ex10 7574024 AMPL387899835 7573927 7574055 62.8 1 1 INDEL GC 1 GC/G   TP53 exonic frameshiftDeletion   10 p.Arg335Val 1002_1002delG c.1002_1002delG NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0.68,-0.02 10-007 PRO-12-20140408_1000_ 537 tumor 45 536118 80.66 1113 81.82 IonXpress_002   512 336 176 0.34 30 - 40 >50 Premenopausal
5 132 HE10/00 8377 10-008   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-008 SN2-52-20140311_1000_T1_T2_ 1393 tumor 55 239829 84.85 556.5 70.79 IonXpress_018 1.0E-5 1200 364 836 0.7 70 - 80 >50 Postmenopausal
6 140 HE10/00 8377 10-008   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-008 SN2-52-20140311_1000_T1_T2_ 665 tumor 55 239829 84.85 556.5 70.79 IonXpress_018 1.0E-5 613 35 578 0.94 90 - 100 >50 Postmenopausal
7 163 HE10/00 6660 10-013 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-013 PRO-12-20140408_1000_ 394 tumor 40 1371766 74.36 2602 80.62 IonXpress_003   362 172 190 0.52 50 - 60 >50 Postmenopausal
8 184 HE10/00 12873 10-015 1 NO   NO NO                                                                                             >50 Postmenopausal
9 213 HE10/00 13717 10-016   YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 in5-ex6 7578210 AMPL4392179183 7578209 7578382 58.3 1 2 SNV T 1 T/C 0.007 TP53 exonic synonymous CGG 6 WT 639A>G c.639A>G NA   oligodendroglioma_Grade_II:adenocarcinoma:adenoma:carcinoma rs1800372 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif   10-016 SN2-52-20140311_1000_T1_T2_ 423 tumor 50 577455 81.97 1255 81.78 IonXpress_023 1.0E-5 212 167 45 0.21 20 - 30 >50 Postmenopausal
10 215 HE10/00 13717 10-016   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif   10-016 SN2-52-20140311_1000_T1_T2_ 544 tumor 50 577455 81.97 1255 81.78 IonXpress_023 1.0E-5 494 39 455 0.92 90 - 100 >50 Postmenopausal
11 216 HE10/00 10599 10-017 1 NO   NO NO                                                                                             <=50 Premenopausal
12 245 HE10/00 7115 10-018   YES PIK3CA NO NO nonMUTnonSNP chr03 3q26.3 in1-ex2 178916573 AMPL1786991673 178916463 178916617 30.9 1 1 SNV T 1 T/C   PIK3CA utr_5     2       NA       PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 0,85 10-018 PRO-12-20140408_1000_ 623 tumor 45 533597 65.38 858.5 78.82 IonXpress_004   604 126 478 0.79 70 - 80 <=50 Premenopausal
13 253 HE10/00 7115 10-018   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577118 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/A   TP53 exonic missense TTT 8 p.Val274Phe 820G>T c.820G>T NA 971 angiosarcoma:pleomorphic_carcinoma:astrocytoma_Grade_II:hepatocellular_carcinoma:undifferentiated_adenocarcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:serous_carcinoma:transitiol_cell_carcinoma:adenocarcinoma:adrel_cortical_carcinom   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif   10-018 PRO-12-20140408_1000_ 398 tumor 45 533597 65.38 858.5 78.82 IonXpress_004   360 208 152 0.42 40 - 50 <=50 Premenopausal
14 254 HE10/00 7115 10-018   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in7-ex8 7577265 AMPL1481474315 7577115 7577289 48.1 2 3 SNV G 1 G/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,3 10-018 PRO-12-20140408_1000_ 351 tumor 45 533597 65.38 858.5 78.82 IonXpress_004   310 268 42 0.14 10 - 20 <=50 Premenopausal
15 255 HE10/00 10429 10-019 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-019 PRO-12-20140408_1000_ 138 tumor 40 1433853 87.05 3211 79.54 IonXpress_005   120 25 95 0.79 70 - 80 >50 Postmenopausal
16 270 HE10/00 10844 10-020 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-020 SN2-52-20140311_1000_T1_T2_ 223 tumor 65 149886 71.61 277.4 80.6 IonXpress_033 1.0E-5 207 6 201 0.97 90 - 100 <=50 Premenopausal
17 295 HE10/00 13078 10-022 1 NO   NO NO                                                                                             >50 Postmenopausal
18 296 HE10/00 11082 10-023 1 YES TP53 YES NO other chr17 17p13.1 in4-ex5 7578508 AMPL6326144323 7578407 7578581 61.7 1 3 SNV C 1 C/T   TP53 exonic missense TAC 5 p.Cys141Tyr 422G>A c.422G>A NA   angiosarcoma:lymphoid_neoplasm:oligodendroglioma:hepatocellular_carcinoma:Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour:synovial_sarcoma:intestil_adenocarcinoma:endometrioid_carcinoma:myelodysplastic_syndrome:non_small_cell_carcinoma:diffus   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,43 10-023 PRO-27-20140729_BR05_10_rest_ 4169 tumor 35 3520683 82.26 7516 86.24 IonXpress_024   1995 1702 293 0.15 10 - 20 <=50 Premenopausal
19 308 HE10/00 11082 10-023   YES PIK3CA NO NO nonMUTnonSNP chr03 3q26.3 off target 115118902 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/G                   NA         -1,3 10-023 PRO-27-20140729_BR05_10_rest_ 5400 tumor 35 3520683 82.26 7516 86.24 IonXpress_024   1985 1749 236 0.12 10 - 20 <=50 Premenopausal
20 310 HE10/00 11082 10-023   YES PIK3CA NO YES other chr03 3q26.3 in1 178866408 AMPL4347527835 178866384 178866543 78.2     SNV C 1 C/T 0.149 PIK3CA intronic             NA     rs2699887 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 -0,07 10-023 PRO-27-20140729_BR05_10_rest_ 411 tumor 35 3520683 82.26 7516 86.24 IonXpress_024   321 147 174 0.54 50 - 60 <=50 Premenopausal
21 320 HE10/00 11082 10-023   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-023 PRO-27-20140729_BR05_10_rest_ 3258 tumor 35 3520683 82.26 7516 86.24 IonXpress_024   1971 1099 872 0.44 40 - 50 <=50 Premenopausal
22 325 HE10/00 12420 10-024 1 NO   NO NO                                                                                             <=50 Premenopausal
23 346 HE10/00 14201 10-026 1 NO   NO NO                                                                                             >50 Postmenopausal
24 360 HE10/00 6390 10-028 1 NO   NO NO                                                                                             <=50 Premenopausal
25 368 HE10/00 7304 10-030 1 NO   NO NO                                                                                             <=50 Premenopausal
26 370 HE10/00 12742 10-032 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-032 SN2-52-20140311_1000_T1_T2_ 182 tumor 70 166663 76.35 338.5 86.41 IonXpress_040 1.0E-5 161 6 155 0.96 90 - 100 <=50 Premenopausal
27 409 HE10/00 6374 10-033   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-033 SN2-52-20140311_1000_T1_T2_ 115 tumor 60 146797 83.09 316.9 81.5 IonXpress_041 1.0E-5 109 66 43 0.39 30 - 40 <=50 Premenopausal
28 410 HE10/00 8925 10-034 1 NO   NO NO                                                                                             <=50 Premenopausal
29 426 HE10/00 7660 10-036 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-036 PRO-27-20140729_BR05_10_rest_ 11824 tumor 35 3668005 85.97 8357 85.99 IonXpress_025   1991 1109 882 0.44 40 - 50 >50 Postmenopausal
30 449 HE10/00 7660 10-036   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-036 PRO-27-20140729_BR05_10_rest_ 11824 tumor 35 3668005 85.97 8357 85.99 IonXpress_025   1997 1108 889 0.45 40 - 50 >50 Postmenopausal
31 450 HE10/00 7660 10-036   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-036 PRO-27-20140729_BR05_10_rest_ 3748 tumor 35 3668005 85.97 8357 85.99 IonXpress_025   1994 981 1013 0.51 50 - 60 >50 Postmenopausal
32 451 HE10/00 13835 10-037 1 NO   NO NO                                                                                             >50 Postmenopausal
33 457 HE10/00 13429 10-039 1 NO   NO NO                                                                                             >50 Postmenopausal
34 460 HE10/00 10701 10-041 1 NO   NO NO                                                                                             >50 Postmenopausal
35 485 HE10/00 11372 10-042   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-042 PRO-12-20140408_1000_ 2140 tumor 45 351935 75.72 672.8 78.97 IonXpress_006   1996 1165 831 0.42 40 - 50 >50 Postmenopausal
36 494 HE10/00 10699 10-043 1 NO   NO NO                                                                                             >50 Premenopausal
37 500 HE10/00 6783 10-045 1 NO   NO NO                                                                                             >50 Postmenopausal
38 507 HE10/00 6425 10-046 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-046 SN2-52-20140311_1000_T1_T2_ 205 tumor 65 93607 79.57 201.3 88.88 IonXpress_048 1.0E-5 187 9 178 0.95 90 - 100 >50 Postmenopausal
39 552 HE10/00 10381 10-048   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-048 PRO-12-20140408_1000_ 124 tumor 45 228761 79.31 460.9 69.87 IonXpress_007   108 52 56 0.52 50 - 60 >50 Premenopausal
40 553 HE10/00 10381 10-048   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-048 PRO-12-20140408_1000_ 124 tumor 45 228761 79.31 460.9 69.87 IonXpress_007   116 55 61 0.53 50 - 60 >50 Premenopausal
41 558 HE10/00 13868 10-049 1 NO   NO NO                                                                                             >50 Postmenopausal
42 568 HE10/00 13714 10-051 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-051 PRO-12-20140408_1000_ 205 tumor 40 543670 70.81 994.4 82.04 IonXpress_008   195 34 161 0.83 80 - 90 <=50 Premenopausal
43 583 HE10/00 9715 10-052 1 NO   NO NO                                                                                             >50 Postmenopausal
44 594 HE10/00 7329 10-053 1 NO   NO NO                                                                                             >50 Postmenopausal
45 667 HE10/00 9720 10-055 1 NO   NO NO                                                                                             >50 Postmenopausal
46 670 HE10/00 9994 10-056 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-056 PRO-27-20140729_BR05_10_rest_ 451 tumor 35 2889785 91.65 6624 45.82 IonXpress_026   395 104 291 0.74 70 - 80 <=50 Premenopausal
47 691 HE10/00 10753 10-057 1 NO   NO NO                                                                                             <=50 Premenopausal
48 708 HE10/00 11108 10-058 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-058 PRO-12-20140408_1000_ 717 tumor 40 892618 76.17 1757 49.82 IonXpress_011   663 117 546 0.82 80 - 90 >50 Postmenopausal
49 723 HE10/00 11108 10-058   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-058 PRO-12-20140408_1000_ 186 tumor 40 892618 76.17 1757 49.82 IonXpress_011   180 123 57 0.32 30 - 40 >50 Postmenopausal
50 816 HE10/00 7325 10-060   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936094 AMPL393459515 178935994 178936131 38.6 3 2 SNV C 1 C/A   PIK3CA exonic missense AAG 10 p.Gln546Lys 1636C>A c.1636C>A NA 958 HER-positive_carcinoma:diffuse_adenocarcinoma:Merkel_cell_carcinoma:small_cell_carcinoma:clear_cell_carcinoma:serous_carcinoma:endometrioid_carcinoma:WNT_subtype:adenocarcinoma:squamous_cell_carcinoma:serrated_carcinoma:acute_lymphoblastic_T_cell_leukaemi rs121913286 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-060 PRO-12-20140408_1000_ 418 tumor 40 289153 42.94 297.4 61.6 IonXpress_012   412 327 85 0.21 20 - 30 >50 Postmenopausal
51 885 HE10/00 10608 10-061   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex10-in10 7573849 AMPL1481481122 7573824 7573997 62.3 1 1 SNV G 1 G/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,17 10-061 PRO-27-20140729_BR05_10_rest_ 350 tumor 35 1464168 88.7 3382 76.55 IonXpress_027   316 227 89 0.28 20 - 30 >50 Postmenopausal
52 887 HE10/00 10608 10-061   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-061 PRO-27-20140729_BR05_10_rest_ 567 tumor 35 1464168 88.7 3382 76.55 IonXpress_027   534 295 239 0.45 40 - 50 >50 Postmenopausal
53 888 HE10/00 10004 10-062 1 NO   NO NO                                                                                             >50 Postmenopausal
54 897 HE10/00 8512 10-063 1 NO   NO NO                                                                                             <=50 Premenopausal
55 986 HE10/00 12662 10-064   YES PIK3CA YES NO other chr03 3q26.3 in 10-ex11 178937016 AMPL391535344 178936910 178937071 35.8 3 2 SNV C 1 C/T   PIK3CA exonic missense CTC 11 p.Pro566Leu 1697C>T c.1697C>T NA 999     PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-064 PRO-12-20140408_1000_ 493 tumor 45 250279 63.43 386.8 62.19 IonXpress_013 1.0E-5 478 429 49 0.1 10 - 20 <=50 Premenopausal
56 1007 HE10/00 12662 10-064   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in7-ex8 7577137 AMPL1481474315 7577115 7577289 48.1 2 3 SNV C 1 C/T   TP53 exonic synonymous CGA 8 WT 801G>A c.801G>A NA   lymphoid_neoplasm:neoplasm:ductal_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,21 10-064 PRO-12-20140408_1000_ 167 tumor 45 250279 63.43 386.8 62.19 IonXpress_013   193 149 44 0.23 20 - 30 <=50 Premenopausal
57 1009 HE10/00 12662 10-064   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in7-ex8 7577199 AMPL1481474315 7577115 7577289 48.1 2 3 SNV C 1 C/T   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,63 10-064 PRO-12-20140408_1000_ 167 tumor 45 250279 63.43 386.8 62.19 IonXpress_013   164 117 47 0.29 20 - 30 <=50 Premenopausal
58 1010 HE10/00 12662 10-064   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in7-ex8 7577243 AMPL1481474315 7577115 7577289 48.1 2 3 SNV C 1 C/T   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,6 10-064 PRO-12-20140408_1000_ 167 tumor 45 250279 63.43 386.8 62.19 IonXpress_013   148 100 48 0.32 30 - 40 <=50 Premenopausal
59 1021 HE10/00 7118 10-065 1 NO   NO NO                                                                                             <=50 Premenopausal
60 1050 HE10/00 6372 10-066   YES TP53 YES NO other chr17 17p13.1 ex5-in5 7578395 AMPL1992796664 7578284 7578458 63.7 1 2 SNV G 1 G/C   TP53 exonic missense GAT 5 p.His179Asp 535C>G c.535C>G   1 lymphoid_neoplasm:hepatocellular_carcinoma:MALT_lymphoma:intestil_adenocarcinoma:Wilms_tumour:lobular_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:malignt_peripheral_nerve_sheath_   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,8 10-066 SN2-50-20140305_1000_T6_T2_ 159 tumor 65 328857 71.57 589.7 86.63 IonXpress_002   144 95 49 0.34 30 - 40 <=50 Premenopausal
61 1051 HE10/00 6372 10-066   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-066 SN2-50-20140305_1000_T6_T2_ 169 tumor 65 328857 71.57 589.7 86.63 IonXpress_002   155 6 149 0.96 90 - 100 <=50 Premenopausal
62 1052 HE10/00 6647 10-067 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-067 SN2-52-20140311_1000_T1_T2_ 151 tumor 60 338533 61 520.4 88.91 IonXpress_049 1.0E-5 141 19 122 0.87 80 - 90 >50 Postmenopausal
63 1077 HE10/00 6647 10-067   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577581 AMPL4981177402 7577472 7577638 53.4 2 3 SNV A 1 A/G   TP53 exonic missense CAC 7 p.Tyr234His 700T>C c.700T>C   997 pterygium:keratoacanthoma:malignt_melanoma:MALT_lymphoma:Wilms_tumour:follicular_lymphoma:Burkitt_lymphoma:serous_carcinoma:endometrioid_carcinoma:acute_myeloid_leukaemia:keratosis:transitiol_cell_carcinoma:adenocarcinoma:diffuse_large_B_cell_lymphoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,07 10-067 SN2-52-20140311_1000_T1_T2_ 416 tumor 60 338533 61 520.4 88.91 IonXpress_049 1.0E-5 382 327 55 0.14 10 - 20 >50 Postmenopausal
64 1079 HE10/00 11109 10-069 1 NO   NO NO                                                                                             >50 Postmenopausal
65 1096 HE10/00 12971 10-071 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-071 SN2-52-20140311_1000_T1_T2_ 129 tumor 50 119279 70.93 220.8 92.1 IonXpress_051 1.0E-5 118 11 107 0.91 90 - 100 >50 Postmenopausal
66 1119 HE10/00 12971 10-071   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577129 AMPL706844244 7576996 7577170 61.6 1 2 SNV A 1 A/G   TP53 exonic missense TCT 8 p.Phe270Ser 809T>C c.809T>C NA   adenocarcinoma:mantle_cell_lymphoma:squamous_cell_carcinoma:astrocytoma_Grade_IV:ductal_carcinoma:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,15 10-071 SN2-52-20140311_1000_T1_T2_ 167 tumor 50 119279 70.93 220.8 92.1 IonXpress_051 1.0E-5 151 101 50 0.33 30 - 40 >50 Postmenopausal
67 1141 HE10/00 8525 10-072   YES TP53 YES NO other chr17 17p13.1 ex7-in7 7577506 AMPL3426752792 7577372 7577532 61 2 3 SNV C 1 C/T   TP53 exonic missense AAC 7 p.Asp259Asn 775G>A c.775G>A NA 6 malignt_melanoma_of_soft_parts-clear_cell_sarcoma:dysplasia:adenocarcinoma:squamous_cell_carcinoma:serous_adenocarcinofibroma:NK-T_cell_lymphoma:neoplasm:non_small_cell_carcinoma:lobular_carcinoma:ductal_carcinoma:neuroblastoma:undifferentiated_carcinom   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,52 10-072 PRO-12-20140408_1000_ 1458 tumor 45 402532 73.26 725.5 77.64 IonXpress_014   1789 1218 571 0.32 30 - 40 <=50 Premenopausal
68 1143 HE10/00 8525 10-072   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in4-ex5 7578513 AMPL6326144323 7578407 7578581 61.7 1 3 SNV C 1 C/T   TP53 exonic synonymous AAA 5 WT 417G>A c.417G>A NA   transitiol_cell_carcinoma:other:low_malignt_potential_(borderline)_tumour:adenocarcinoma:squamous_cell_carcinoma:fibroadenoma:synovial_sarcoma:non_small_cell_carcinoma:plasma_cell_myeloma:ductal_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,77 10-072 PRO-12-20140408_1000_ 189 tumor 45 402532 73.26 725.5 77.64 IonXpress_014   178 124 54 0.3 30 - 40 <=50 Premenopausal
69 1144 HE10/00 8525 10-072   YES TP53 YES NO other chr17 17p13.1 ex4-in4 7579372 AMPL1481773781 7579257 7579411 56.1 2 3 INDEL,SNV GC 1 G/GT   TP53 exonic frameshiftDeletion ,GGA 4 p.Gly105Ala,WT 314_314delG, c.314_314delG, NA , transitiol_cell_carcinoma:squamous_cell_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0.33,2.63 10-072 PRO-12-20140408_1000_ 990 tumor 45 402532 73.26 725.5 77.64 IonXpress_014   849 255 292 0.34 30 - 40 <=50 Premenopausal
70 1148 HE10/00 13574 10-073 1 NO   NO NO                                                                                             >50 Postmenopausal
71 1180 HE10/00 13611 10-074   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952103 AMPL392292511 178952020 178952194 36.3 3 2 INDEL CAAAAATG 1 CAAAAATG/CAAAATG   PIK3CA exonic frameshiftDeletion TGG 21 p.Met1055Trp 3159_3159delA c.3159_3159delA NA       PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2.89,2.33,2.33,2.33,1.14,2.33,2.33,2.89 10-074 PRO-12-20140408_1000_ 736 tumor 45 462395 71.56 849.6 78.15 IonXpress_015   351 284 45 0.13 10 - 20 >50 Postmenopausal
72 1181 HE10/00 13611 10-074   YES PIK3CA NO NO nonMUTnonSNP chr03 3q26.3 ex21 178952164 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA utr_3     21       NA       PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 0,43 10-074 PRO-12-20140408_1000_ 736 tumor 45 462395 71.56 849.6 78.15 IonXpress_015 7.0E-5 513 464 49 0.1 10 - 20 >50 Postmenopausal
73 1187 HE10/00 13611 10-074   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-074 PRO-12-20140408_1000_ 1559 tumor 45 462395 71.56 849.6 78.15 IonXpress_015   1455 719 736 0.51 50 - 60 >50 Postmenopausal
74 1188 HE10/00 13611 10-074   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-074 PRO-12-20140408_1000_ 1559 tumor 45 462395 71.56 849.6 78.15 IonXpress_015   1476 740 736 0.5 50 - 60 >50 Postmenopausal
75 1189 HE10/00 13611 10-074   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in6-ex7-in7 7577558 AMPL4981177402 7577472 7577638 53.4 2 3 SNV G 1 G/A   TP53 exonic synonymous TCT 7 WT 723C>T c.723C>T NA   adenocarcinoma:squamous_cell_carcinoma:basal_cell_carcinoma:carcinoma:serous_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,31 10-074 PRO-12-20140408_1000_ 476 tumor 45 462395 71.56 849.6 78.15 IonXpress_015 6.0E-5 415 373 42 0.1 10 - 20 >50 Postmenopausal
76 1190 HE10/00 9728 10-076 1 YES TP53 YES NO other chr17 17p13.1 in4-ex5 7578535 AMPL6326144323 7578407 7578581 61.7 1 3 SNV T 1 T/C   TP53 exonic missense AGG 5 p.Lys132Arg 395A>G c.395A>G NA   Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour:hepatocellular_carcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:endometrioid_carcinoma:serous_carcinoma:transitiol_cell_carcinoma:acute_lymphoblastic_leukaemia:dysplasia:adenocarcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,02 10-076 PRO-27-20140729_BR05_10_rest_ 2976 tumor 30 3665638 75.24 7012 84.84 IonXpress_028   1997 1460 537 0.27 20 - 30 >50 Postmenopausal
77 1209 HE10/00 9728 10-076   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-076 PRO-27-20140729_BR05_10_rest_ 8986 tumor 30 3665638 75.24 7012 84.84 IonXpress_028   1997 1332 665 0.33 30 - 40 >50 Postmenopausal
78 1222 HE10/00 9728 10-076   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-076 PRO-27-20140729_BR05_10_rest_ 6947 tumor 30 3665638 75.24 7012 84.84 IonXpress_028   1998 1487 511 0.26 20 - 30 >50 Postmenopausal
79 1223 HE10/00 9728 10-076   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-076 PRO-27-20140729_BR05_10_rest_ 6947 tumor 30 3665638 75.24 7012 84.84 IonXpress_028   1998 1521 477 0.24 20 - 30 >50 Postmenopausal
80 1224 HE10/00 9728 10-076   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-076 PRO-27-20140729_BR05_10_rest_ 2222 tumor 30 3665638 75.24 7012 84.84 IonXpress_028   1999 773 1226 0.61 60 - 70 >50 Postmenopausal
81 1226 HE10/00 12389 10-079 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-079b SN2-51-20140306_1000_N_T2_ 176 tumor 50 165391 83.94 380.8 90.81 IonXpress_054 1.0E-5 164 4 160 0.98 90 - 100 >50 Postmenopausal
82 1242 HE10/00 12389 10-079   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-079b SN2-51-20140306_1000_N_T2_ 658 tumor 50 165391 83.94 380.8 90.81 IonXpress_054 1.0E-5 648 474 174 0.27 20 - 30 >50 Postmenopausal
83 1254 HE10/00 6391 10-083 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-083 SN2-51-20140306_1000_N_T2_ 246 tumor 60 283000 74.03 561.4 91.44 IonXpress_056 1.0E-5 230 8 222 0.97 90 - 100 <=50 Premenopausal
84 1269 HE10/00 6391 10-083   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-083 SN2-51-20140306_1000_N_T2_ 1398 tumor 60 283000 74.03 561.4 91.44 IonXpress_056 1.0E-5 1358 675 683 0.5 50 - 60 <=50 Premenopausal
85 1279 HE10/00 7858 10-085 1 NO   NO NO                                                                                             <=50 Premenopausal
86 1307 HE10/00 11470 10-087   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-087 PRO-12-20140408_1000_ 477 tumor 40 221374 80.96 477.3 78.78 IonXpress_016   237 137 100 0.42 40 - 50 <=50 Premenopausal
87 1318 HE10/00 11470 10-087   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-087 PRO-12-20140408_1000_ 969 tumor 40 221374 80.96 477.3 78.78 IonXpress_016   895 534 361 0.4 40 - 50 <=50 Premenopausal
88 1319 HE10/00 11470 10-087   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-087 PRO-12-20140408_1000_ 969 tumor 40 221374 80.96 477.3 78.78 IonXpress_016   923 545 378 0.41 40 - 50 <=50 Premenopausal
89 1367 HE10/00 10090 10-089   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-089 PRO-27-20140729_BR05_10_rest_ 3882 tumor 35 2713463 76.17 5346 70.3 IonXpress_029   1986 1816 170 0.09 <10 >50 Postmenopausal
90 1368 HE10/00 10090 10-089   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-089 PRO-27-20140729_BR05_10_rest_ 3882 tumor 35 2713463 76.17 5346 70.3 IonXpress_029   2000 1825 175 0.09 <10 >50 Postmenopausal
91 1369 HE10/00 10090 10-089   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-089 PRO-27-20140729_BR05_10_rest_ 1430 tumor 35 2713463 76.17 5346 70.3 IonXpress_029   1323 149 1174 0.89 80 - 90 >50 Postmenopausal
92 1370 HE10/00 8936 10-090 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36       tumor                     0.97   <=50 Postmenopausal
93 1398 HE10/00 11717 10-091   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-091 PRO-12-20140408_1000_ 3307 tumor 45 445468 80.98 952.2 78.96 IonXpress_017   1994 1480 514 0.26 20 - 30 >50 Postmenopausal
94 1407 HE10/00 11717 10-091   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-091 PRO-12-20140408_1000_ 798 tumor 45 445468 80.98 952.2 78.96 IonXpress_017   734 463 271 0.37 30 - 40 >50 Postmenopausal
95 1408 HE10/00 11717 10-091   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-091 PRO-12-20140408_1000_ 798 tumor 45 445468 80.98 952.2 78.96 IonXpress_017   747 470 277 0.37 30 - 40 >50 Postmenopausal
96 1419 HE10/00 14428 10-092   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-092 SN2-51-20140306_1000_N_T2_ 329 tumor 60 68717 68.08 122.7 89.79 IonXpress_058 1.0E-5 324 209 115 0.35 30 - 40 <=50 Premenopausal
97 1421 HE10/00 7129 10-093 1 NO   NO NO                                                                                             >50 Postmenopausal
98 1451 HE10/00 14060 10-094 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-094 SN2-51-20140306_1000_N_T2_ 141 tumor 65 213529 81.42 467.5 87.91 IonXpress_059 1.0E-5 136 3 133 0.98 90 - 100 <=50 Premenopausal
99 1463 HE10/00 14060 10-094   YES TP53 YES NO other chr17 17p13.1 in5-ex6 7578236 AMPL4392179183 7578209 7578382 58.3 1 2 SNV A 1 A/T   TP53 exonic missense AAT 6 p.Tyr205Asn 613T>A c.613T>A   997 transitiol_cell_carcinoma:keratosis:diffuse_large_B_cell_lymphoma:adenocarcinoma:squamous_cell_carcinoma:mixed_adenosquamous_carcinoma:Barrett_oesophagus:Burkitt_lymphoma:ductal_carcinoma:serous_carcinoma:astrocytoma:endometrioid_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,18 10-094 SN2-51-20140306_1000_N_T2_ 173 tumor 65 213529 81.42 467.5 87.91 IonXpress_059 1.0E-5 295 214 81 0.27 20 - 30 <=50 Premenopausal
100 1466 HE10/00 14060 10-094   YES TP53 YES NO other chr17 17p13.1 in4-ex5 7578454 AMPL6326144323 7578407 7578581 61.7 1 3 SNV G 1 G/T   TP53 exonic missense GAC 5 p.Ala159Asp 476C>A c.476C>A NA   mixed_carcinoma:medullary_carcinoma:NK-T_cell_lymphoma:hepatocellular_carcinoma:plasma_cell_myeloma:serous_carcinoma:oligoastrocytoma:adenocarcinoma:squamous_cell_carcinoma:mantle_cell_lymphoma:mixed_adenosquamous_carcinoma:primitive_neuroectodermal_tumou   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,36 10-094 SN2-51-20140306_1000_N_T2_ 187 tumor 65 213529 81.42 467.5 87.91 IonXpress_059 1.0E-5 180 125 55 0.31 30 - 40 <=50 Premenopausal
101 1469 HE10/00 6384 10-095 1 NO   NO NO                                                                                             <=50 Premenopausal
102 1476 HE10/00 6459 10-096 1 NO   NO NO                                                                                             <=50 Premenopausal
103 1496 HE10/00 11510 10-097   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-097 SN2-46-20140219_1000_T3_ 426 tumor 50 64214 81.56 138.8 86.54 IonXpress_026 1.0E-5 425 332 93 0.22 20 - 30 >50 Premenopausal
104 1505 HE10/00 9727 10-099 1 NO   NO NO                                                                                             >50 Postmenopausal
105 1516 HE10/00 9729 10-101 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-101 PRO-12-20140408_1000_ 200 tumor 40 381512 72.52 704.8 68.32 IonXpress_019   179 109 70 0.39 30 - 40 >50 Postmenopausal
106 1534 HE10/00 9699 10-102 1 NO   NO NO                                                                                             <=50 Premenopausal
107 1544 HE10/00 14848 10-104 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-104 PRO-12-20140408_1000_ 818 tumor 40 1976281 76.03 3793 73.34 IonXpress_020   736 111 625 0.85 80 - 90 <=50 Premenopausal
108 1566 HE10/00 12869 10-105 1 NO   NO NO                                                                                             >50 Postmenopausal
109 1592 HE10/00 12951 10-107 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC,GGC 4 p.Pro72Arg,p.Pro72Gly 215C>G,215C>G c.215C>G,c.215C>G NA , astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-107 SN2-46-20140219_1000_T3_ 234 tumor 65 271624 84.84 613.3 86.89 IonXpress_031 1.0E-5 205 23 182 0.89 80 - 90 >50 Premenopausal
110 1616 HE10/00 12951 10-107   YES TP53 YES NO other chr17 17p13.1 in4-ex5 7578536 AMPL6326144323 7578407 7578581 61.7 1 3 SNV T 1 T/C   TP53 exonic missense GAG 5 p.Lys132Glu 394A>G c.394A>G   995 astrocytoma_Grade_I:lymphoid_neoplasm:aplastic_large_cell_lymphoma:serous_carcinoma:endometrioid_carcinoma:acute_myeloid_leukaemia:transitiol_cell_carcinoma:rhabdomyosarcoma:adenocarcinoma:diffuse_large_B_cell_lymphoma:squamous_cell_carcinoma:astrocyt   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,21 10-107 SN2-46-20140219_1000_T3_ 341 tumor 65 271624 84.84 613.3 86.89 IonXpress_031 1.0E-5 314 208 106 0.34 30 - 40 >50 Premenopausal
111 1618 HE10/00 8927 10-108 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-108 PRO-12-20140408_1000_ 711 tumor 45 1994492 78.43 3928 70.29 IonXpress_021   655 307 348 0.53 50 - 60 <=50 Premenopausal
112 1642 HE10/00 8927 10-108   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-108 PRO-12-20140408_1000_ 6877 tumor 45 1994492 78.43 3928 70.29 IonXpress_021   1999 1811 188 0.09 <10 <=50 Premenopausal
113 1653 HE10/00 12671 10-109 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-109 SN2-46-20140219_1000_T3_ 459 tumor 50 236964 79.94 496.6 81.36 IonXpress_032 1.0E-5 417 289 128 0.31 30 - 40 >50 Postmenopausal
114 1666 HE10/00 12671 10-109   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-109 SN2-46-20140219_1000_T3_ 629 tumor 50 236964 79.94 496.6 81.36 IonXpress_032 1.0E-5 624 540 84 0.13 10 - 20 >50 Postmenopausal
115 1679 HE10/00 10144 10-110 1 NO   NO NO                                                                                             >50 Postmenopausal
116 1688 HE10/00 8945 10-111 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-111 PRO-12-20140408_1000_ 305 tumor 40 952868 76.89 1802 73.34 IonXpress_022   275 140 135 0.49 40 - 50 <=50 Postmenopausal
117 1713 HE10/00 8945 10-111   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-111 PRO-12-20140408_1000_ 2479 tumor 40 952868 76.89 1802 73.34 IonXpress_022   1912 1340 572 0.3 30 - 40 <=50 Postmenopausal
118 1714 HE10/00 8945 10-111   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-111 PRO-12-20140408_1000_ 2479 tumor 40 952868 76.89 1802 73.34 IonXpress_022   1996 1428 568 0.28 20 - 30 <=50 Postmenopausal
119 1715 HE10/00 8945 10-111   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577556 AMPL4981177402 7577472 7577638 53.4 2 3 SNV C 1 C/A   TP53 exonic missense TTC 7 p.Cys242Phe 725G>T c.725G>T NA   HER-positive_carcinoma:mixed_carcinoma:liposarcoma:medullary_carcinoma:hepatocellular_carcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:follicular_lymphoma:endometrioid_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:myelodyspl rs121912655 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,56 10-111 PRO-12-20140408_1000_ 3636 tumor 40 952868 76.89 1802 73.34 IonXpress_022   1990 1308 682 0.34 30 - 40 <=50 Postmenopausal
120 1721 HE10/00 9700 10-113 1 NO   NO NO                                                                                             <=50 Premenopausal
121 1737 HE10/00 10211 10-114 1 NO   NO NO                                                                                             <=50 Premenopausal
122 1760 HE10/00 7309 10-117 1 NO   NO NO                                                                                             <=50 Premenopausal
123 1764 HE10/00 11238 10-119 1 NO   NO NO                                                                                             >50 Postmenopausal
124 1767 HE10/00 12701 10-120 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-120 SN2-46-20140219_1000_T3_ 513 tumor 60 289264 85.79 655.6 79.25 IonXpress_039 1.0E-5 450 226 224 0.5 50 - 60 <=50 Premenopausal
125 1786 HE10/00 12701 10-120   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577548 AMPL4981177402 7577472 7577638 53.4 2 3 SNV C 1 C/T   TP53 exonic missense AGC 7 p.Gly245Ser 733G>A c.733G>A   1 HER-positive_carcinoma:hepatocellular_carcinoma:follicular_lymphoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:glioma:spindle_cell_carcinoma:basal_cell_carcinoma:osteosarcoma:pleomorphic_carcinoma:astrocytoma_Grade_II:serous_carcinoma:rhabdo rs28934575 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,56 10-120 SN2-46-20140219_1000_T3_ 981 tumor 60 289264 85.79 655.6 79.25 IonXpress_039 1.0E-5 906 770 136 0.15 10 - 20 <=50 Premenopausal
126 1787 HE10/00 7649 10-121 1 NO   NO NO                                                                                             <=50 Premenopausal
127 1814 HE10/00 8506 10-127   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-127 PRO-27-20140729_BR05_10_rest_ 2537 tumor 30 1160898 69.49 2041 84.84 IonXpress_030   1654 1049 605 0.37 30 - 40 <=50 Premenopausal
128 1823 HE10/00 8506 10-127   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-127 PRO-27-20140729_BR05_10_rest_ 822 tumor 30 1160898 69.49 2041 84.84 IonXpress_030   774 142 632 0.82 80 - 90 <=50 Premenopausal
129 1829 HE10/00 9713 10-128 1 NO   NO NO                                                                                             >50 Postmenopausal
130 1885 HE10/00 13605 10-129 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-129 PRO-12-20140408_1000_ 722 tumor 40 1707877 81.25 3668 81.81 IonXpress_024   662 116 546 0.82 80 - 90 <=50 Premenopausal
131 1899 HE10/00 13605 10-129   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952018 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense GCC 21 p.Thr1025Ala 3073A>G c.3073A>G NA 998 adenocarcinoma:intestil_adenocarcinoma:aplastic_carcinoma:PRL:serous_carcinoma:endometrioid_carcinoma:carcinoma   PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-129 PRO-12-20140408_1000_ 4417 tumor 40 1707877 81.25 3668 81.81 IonXpress_024   1992 1554 438 0.22 20 - 30 <=50 Premenopausal
132 1904 HE10/00 13183 10-130 1 NO   NO NO                                                                                             >50 Postmenopausal
133 1913 HE10/00 13938 10-131 1 NO   NO NO                                                                                             >50 Postmenopausal
134 1926 HE10/00 10001 10-132   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-132 SN2-46-20140219_1000_T3_ 380 tumor 65 130093 78.55 267.2 88.36 IonXpress_043 1.0E-5 359 182 177 0.49 40 - 50 >50 Postmenopausal
135 1928 HE10/00 10001 10-132   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-132 SN2-46-20140219_1000_T3_ 371 tumor 65 130093 78.55 267.2 88.36 IonXpress_043 1.0E-5 289 196 93 0.32 30 - 40 >50 Postmenopausal
136 1937 HE10/00 10001 10-132   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-132 SN2-46-20140219_1000_T3_ 124 tumor 65 130093 78.55 267.2 88.36 IonXpress_043 1.0E-5 110 5 105 0.95 90 - 100 >50 Postmenopausal
137 1939 HE10/00 14216 10-133 1 NO   NO NO                                                                                             >50 Premenopausal
138 1954 HE10/00 13613 10-134 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-134 SN2-42-20140211_1000_T17_ 517 tumor 50 271747 81.09 599.8 84.1 IonXpress_013 1.0E-5 460 229 229 0.5 50 - 60 >50 Postmenopausal
139 1973 HE10/00 10610 10-136 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-136 SN2-46-20140219_1000_T3_ 155 tumor 50 163243 71.8 303.4 88 IonXpress_045 1.0E-5 137 46 91 0.66 60 - 70 >50 Postmenopausal
140 1995 HE10/00 10610 10-136   YES TP53 YES NO other chr17 17p13.1 in3-ex4 7579550 AMPL6795075395 7579475 7579618 52 2 3 INDEL G 1 G/GA   TP53 exonic frameshiftInsertion   4 p.Ser46Phe 135_136insT c.135_136insT NA   transitiol_cell_carcinoma:NK-T_cell_lymphoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,42 10-136 SN2-46-20140219_1000_T3_ 451 tumor 50 163243 71.8 303.4 88 IonXpress_045 1.0E-5 430 269 161 0.37 30 - 40 >50 Postmenopausal
141 2013 HE10/00 12221 10-137   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC,GGC 4 p.Pro72Arg,p.Pro72Gly 215C>G,215C>G c.215C>G,c.215C>G NA , astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-137 SN2-46-20140219_1000_T3_ 185 tumor 65 310686 77.27 627.9 86.02 IonXpress_046 1.0E-5 166 64 102 0.61 60 - 70 >50 Postmenopausal
142 2014 HE10/00 11153 10-139 1 YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577548 AMPL4981177402 7577472 7577638 53.4 2 3 SNV C 1 C/A   TP53 exonic missense TGC 7 p.Gly245Cys 733G>T c.733G>T   1 HER-positive_carcinoma:hepatocellular_carcinoma:follicular_lymphoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:glioma:spindle_cell_carcinoma:basal_cell_carcinoma:osteosarcoma:pleomorphic_carcinoma:astrocytoma_Grade_II:serous_carcinoma:rhabdo rs28934575 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,56 10-139b SN2-46-20140219_1000_T3_ 113 tumor 65 90083 78.44 180.6 87.29 IonXpress_047 1.0E-5 108 62 46 0.43 40 - 50 >50 Postmenopausal
143 2048 HE10/00 11362 10-141   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-141b SN2-46-20140219_1000_T3_ 468 tumor 60 62999 65.58 103.3 58.55 IonXpress_048 1.0E-5 461 392 69 0.15 10 - 20 <=50 Premenopausal
144 2053 HE10/00 12385 10-144 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-144 PRO-27-20140729_BR05_10_rest_ 1973 tumor 30 1074927 84.13 2368 76.84 IonXpress_031   1801 1092 709 0.39 30 - 40 >50 Premenopausal
145 2074 HE10/00 12385 10-144   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-144 PRO-27-20140729_BR05_10_rest_ 756 tumor 30 1074927 84.13 2368 76.84 IonXpress_031   729 345 384 0.53 50 - 60 >50 Premenopausal
146 2075 HE10/00 12385 10-144   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-144 PRO-27-20140729_BR05_10_rest_ 3159 tumor 30 1074927 84.13 2368 76.84 IonXpress_031   1998 1643 355 0.18 10 - 20 >50 Premenopausal
147 2093 HE10/00 14066 10-147 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-147 SN2-49-20140227_1000_T4_T5_ 288 tumor 65 218173 71.54 419.7 91.56 IonXpress_058   255 125 118 0.46 40 - 50 >50 Postmenopausal
148 2117 HE10/00 14066 10-147   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952146 AMPL392292511 178952020 178952194 36.3 3 2 INDEL G 1 G/GA   PIK3CA exonic frameshiftInsertion AAA 21 p.Asn1068Lys 3201_3202insA c.3201_3202insA NA   adenocarcinoma:hepatocellular_carcinoma:carcinoma   PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,89 10-147 SN2-49-20140227_1000_T4_T5_ 371 tumor 65 218173 71.54 419.7 91.56 IonXpress_058   269 208 61 0.23 20 - 30 >50 Postmenopausal
149 2151 HE10/00 7670 10-150 1 NO   NO NO                                                                                             >50 Postmenopausal
150 2222 HE10/00 12702 10-152 1 NO   NO NO                                                                                             >50 Postmenopausal
151 2247 HE10/00 12333 10-153   YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 ex6-in6 7578210 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C 0.007 TP53 exonic synonymous CGG 6 WT 639A>G c.639A>G NA   oligodendroglioma_Grade_II:adenocarcinoma:adenoma:carcinoma rs1800372 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,16 10-153 PRO-27-20140729_BR05_10_rest_ 277 tumor 30 210295 70.4 366.5 48.31 IonXpress_032   243 162 81 0.33 30 - 40 >50 Postmenopausal
152 2268 HE10/00 9704 10-157 1 NO   NO NO                                                                                             <=50 Premenopausal
153 2286 HE10/00 9706 10-158   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-158 PRO-12-20140408_1000_ 1928 tumor 45 473998 80.62 1007 79.94 IonXpress_025   976 679 297 0.3 30 - 40 >50 Postmenopausal
154 2292 HE10/00 9706 10-158   YES TP53 YES NO other chr17 17p13.1 ex4-in4 7579372 AMPL1481773781 7579257 7579411 56.1 2 3 SNV,INDEL GC 1 G/GA   TP53 exonic frameshiftDeletion ,GGT 4 p.Gly105Ala,WT 314_314delG, c.314_314delG, NA , transitiol_cell_carcinoma:squamous_cell_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0.33,2.63 10-158 PRO-12-20140408_1000_ 1184 tumor 45 473998 80.62 1007 79.94 IonXpress_025   1085 340 398 0.37 30 - 40 >50 Postmenopausal
155 2323 HE10/00 9717 10-159   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577114 AMPL706844244 7576996 7577170 61.6 1 2 INDEL CA 1 CA/C   TP53 exonic frameshiftDeletion   8 p.Cys275Val 823_823delT c.823_823delT NA   medullary_carcinoma:gliosarcoma:malignt_melanoma:hepatocellular_carcinoma:astrocytoma_Grade_II:malignt_fibrous_histiocytoma-pleomorphic_sarcoma:intestil_adenocarcinoma:NS:hairy_cell_leukaemia:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2.56,2.07 10-159 SN2-49-20140227_1000_T4_T5_ 257 tumor 50 231020 77.18 473.4 86.76 IonXpress_063   237 157 80 0.34 30 - 40 >50 Postmenopausal
156 2325 HE10/00 9717 10-159   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-159 SN2-49-20140227_1000_T4_T5_ 117 tumor 50 231020 77.18 473.4 86.76 IonXpress_063   109 9 100 0.92 90 - 100 >50 Postmenopausal
157 2344 HE10/00 10239 10-161   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-161 SN2-49-20140227_1000_T4_T5_ 105 tumor 65 45794 78.27 98.03 88.94 IonXpress_064   104 28 76 0.73 70 - 80 >50 Postmenopausal
158 2353 HE10/00 7110 10-162 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-162 PRO-27-20140729_BR05_10_rest_ 574 tumor 35 1266896 73.78 2381 84.76 IonXpress_033   532 279 253 0.48 40 - 50 <=50 Premenopausal
159 2380 HE10/00 7110 10-162   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-162 PRO-27-20140729_BR05_10_rest_ 2857 tumor 35 1266896 73.78 2381 84.76 IonXpress_033   1781 1581 200 0.11 10 - 20 <=50 Premenopausal
160 2419 HE10/00 8938 10-163 1 NO   NO NO                                                                                             <=50 Postmenopausal
161 2544 HE10/00 13312 10-164   YES PIK3CA YES NO other chr03 3q26.3 ex21 178951957 AMPL1497305257 178951918 178952092 38.1 3 3 SNV G 1 G/A   PIK3CA exonic missense ATA 21 p.Met1004Ile 3012G>A c.3012G>A NA 16 adenocarcinoma:astrocytoma_Grade_IV:small_cell_carcinoma:carcinoma:endometrioid_carcinoma   PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,89 10-164 PRO-27-20140729_BR05_10_rest_ 1223 tumor 35 1003011 69.08 1769 87.67 IonXpress_034   1070 960 110 0.1 10 - 20 <=50 Premenopausal
162 2558 HE10/00 13312 10-164   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-164 PRO-27-20140729_BR05_10_rest_ 933 tumor 35 1003011 69.08 1769 87.67 IonXpress_034 1.0E-5 864 786 78 0.09 <10 <=50 Premenopausal
163 2560 HE10/00 12861 10-165 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-165 SN2-49-20140227_1000_T4_T5_ 232 tumor 65 305603 74.99 605.3 89.15 IonXpress_066   214 15 199 0.93 90 - 100 >50 Premenopausal
164 2621 HE10/00 10331 10-167 1 NO   NO NO                                                                                             >50 Postmenopausal
165 2643 HE10/00 13871 10-169 1 NO   NO NO                                                                                             >50 Postmenopausal
166 2664 HE10/00 8909 10-170 1 NO   NO NO                                                                                             <=50 Premenopausal
167 2678 HE10/00 12872 10-171 1 NO   NO NO                                                                                             >50 Postmenopausal
168 2756 HE10/00 9724 10-172 1 NO   NO NO                                                                                             >50 Postmenopausal
169 2850 HE10/00 11111 10-173 1 NO   NO NO                                                                                             >50 Postmenopausal
170 2890 HE10/00 14068 10-176 1 NO   NO NO                                                                                             >50 Postmenopausal
171 2954 HE10/00 9688 10-178 1 YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577090 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/G   TP53 exonic missense CCC 8 p.Arg283Pro 848G>C c.848G>C NA   papillary_adenocarcinoma:transitiol_cell_carcinoma:oligoastrocytoma:pleomorphic_carcinoma:acute_lymphoblastic_leukaemia:diffuse_large_B_cell_lymphoma:adenocarcinoma:squamous_cell_carcinoma:NK-T_cell_lymphoma:hepatocellular_carcinoma:non_small_cell_carci   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,32 10-178 PRO-27-20140729_BR05_10_rest_ 6035 tumor 30 4036110 76.76 8074 89.16 IonXpress_035   1983 1383 600 0.3 30 - 40 <=50 Premenopausal
172 2970 HE10/00 9688 10-178   YES PIK3CA NO YES other chr03 3q26.3 in1 178866408 AMPL4347527835 178866384 178866543 78.2     SNV C 1 T/T 0.149 PIK3CA intronic             NA     rs2699887 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 -0,07 10-178 PRO-27-20140729_BR05_10_rest_ 837 tumor 30 4036110 76.76 8074 89.16 IonXpress_035   628   628 1 90 - 100 <=50 Premenopausal
173 2984 HE10/00 7314 10-180 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-180 PRO-12-20140408_1000_ 142 tumor 40 1296520 71.44 2264 76.12 IonXpress_029   117 17 100 0.85 80 - 90 <=50 Premenopausal
174 3000 HE10/00 7314 10-180   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-180 PRO-12-20140408_1000_ 17171 tumor 40 1296520 71.44 2264 76.12 IonXpress_029   1996 935 1061 0.53 50 - 60 <=50 Premenopausal
175 3011 HE10/00 7314 10-180   YES TP53 YES NO other chr17 17p13.1 ex5-in5 7578394 AMPL1992796664 7578284 7578458 63.7 1 2 SNV T 1 T/C   TP53 exonic missense CGT 5 p.His179Arg 536A>G c.536A>G NA   acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS:HER-positive_carcinoma:mixed_carcinoma:lymphoid_neoplasm:ependymoma:hepatocellular_carcinoma:adult_T_cell_lymphoma-leukaemia:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:endo   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,21 10-180 PRO-12-20140408_1000_ 980 tumor 40 1296520 71.44 2264 76.12 IonXpress_029   840 699 141 0.17 10 - 20 <=50 Premenopausal
176 3017 HE10/00 6397 10-181 1 NO   NO NO                                                                                             <=50 Premenopausal
177 3043 HE10/00 7940 10-182 1 NO   NO NO                                                                                             >50 Premenopausal
178 3263 HE10/00 14722 10-183   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-183 SN2-49-20140227_1000_T4_T5_ 318 tumor 60 269680 84.55 608.8 88.5 IonXpress_073   294 17 277 0.94 90 - 100 >50 Postmenopausal
179 3286 HE10/00 14295 10-185 1 NO   NO NO                                                                                             >50 Postmenopausal
180 3344 HE10/00 11586 10-186 1 NO   NO NO                                                                                             <=50 Premenopausal
181 3348 HE10/00 11511 10-187 1 NO   NO NO                                                                                             <=50 Premenopausal
182 3350 HE10/00 12390 10-188 1 NO   NO NO                                                                                             >50 Postmenopausal
183 3387 HE10/00 12926 10-189 1 NO   NO NO                                                                                             >50 Postmenopausal
184 3452 HE10/00 10325 10-192 1 YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577085 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/A   TP53 exonic nonsense TAG 8 p.Glu285* 853G>T c.853G>T NA   hepatocellular_carcinoma:intestil_adenocarcinoma:lobular_carcinoma:adult_T_cell_lymphoma-leukaemia:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:carcinoid-endocrine_tumour:adrel_cortical_carcinoma:tubular_adenocarcinoma:malignt_peripheral rs112431538 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,58 10-192 PRO-27-20140729_BR05_10_rest_ 4856 tumor 35 4004503 76.45 7907 89.6 IonXpress_036   1992 1689 303 0.15 10 - 20 >50 Premenopausal
185 3467 HE10/00 10325 10-192   YES PIK3CA NO YES other chr03 3q26.3 in1 178866408 AMPL4347527835 178866384 178866543 78.2     SNV C 1 C/T 0.149 PIK3CA intronic             NA     rs2699887 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 -0,07 10-192 PRO-27-20140729_BR05_10_rest_ 883 tumor 35 4004503 76.45 7907 89.6 IonXpress_036   602 187 415 0.69 60 - 70 >50 Premenopausal
186 3469 HE10/00 10325 10-192   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-192 PRO-27-20140729_BR05_10_rest_ 8388 tumor 35 4004503 76.45 7907 89.6 IonXpress_036   1994 1498 496 0.25 20 - 30 >50 Premenopausal
187 3481 HE10/00 10325 10-192   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-192 PRO-27-20140729_BR05_10_rest_ 3411 tumor 35 4004503 76.45 7907 89.6 IonXpress_036   1990 176 1814 0.91 90 - 100 >50 Premenopausal
188 3482 HE10/00 11447 10-193 1 NO   NO NO                                                                                             >50 Postmenopausal
189 3499 HE10/00 8923 10-194 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-194b PRO-12-20140408_1000_ 440 tumor 40 1716693 81.83 3630 77.17 IonXpress_031   381 75 306 0.8 80 - 90 <=50 Premenopausal
190 3512 HE10/00 8923 10-194   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-194b PRO-12-20140408_1000_ 4007 tumor 40 1716693 81.83 3630 77.17 IonXpress_031   689 487 202 0.29 20 - 30 <=50 Premenopausal
191 3523 HE10/00 8923 10-194   YES TP53 YES NO other chr17 17p13.1 ex6-in6 7578203 AMPL4574207192 7578114 7578273 53.5 1 1 SNV C 1 C/T   TP53 exonic missense ATG 6 p.Val216Met 646G>A c.646G>A NA   HER-positive_carcinoma:medullary_carcinoma:leiomyosarcoma:hepatocellular_carcinoma:malignt_fibrous_histiocytoma-pleomorphic_sarcoma:serous_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:carcinoid-endocrine_tumour:acute_myeloid_leukae   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,63 10-194b PRO-12-20140408_1000_ 1930 tumor 40 1716693 81.83 3630 77.17 IonXpress_031   1823 828 995 0.55 50 - 60 <=50 Premenopausal
192 4060 HE10/00 8963 10-197   YES PIK3CA NO NO nonMUTnonSNP chr03 3q26.3 off target 115118808 AMPL6795277223 115118748 115118874 48.8 3 3 SNV C 1 C/T                   NA         0,35 10-197a SN2-49-20140227_1000_T4_T5_ 1933 tumor 60 438031 68.34 781 89.25 IonXpress_080   1674 1520 144 0.09 <10 <=50 Postmenopausal
193 4070 HE10/00 8963 10-197   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936089 AMPL393459515 178935994 178936131 38.6 3 2 SNV C 1 C/T   PIK3CA exonic missense ATT 10 p.Thr544Ile 1631C>T c.1631C>T NA 978 adenocarcinoma   PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-197a SN2-49-20140227_1000_T4_T5_ 1409 tumor 60 438031 68.34 781 89.25 IonXpress_080 3.0E-5 1397 1337 60 0.04 <10 <=50 Postmenopausal
194 4071 HE10/00 8963 10-197   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-197a SN2-49-20140227_1000_T4_T5_ 1409 tumor 60 438031 68.34 781 89.25 IonXpress_080   1398 745 653 0.47 40 - 50 <=50 Postmenopausal
195 4073 HE10/00 8963 10-197   YES PIK3CA YES NO other chr03 3q26.3 in 10-ex11 178937016 AMPL391535344 178936910 178937071 35.8 3 2 SNV C 1 C/T   PIK3CA exonic missense CTC 11 p.Pro566Leu 1697C>T c.1697C>T NA 999     PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-197a SN2-49-20140227_1000_T4_T5_ 812 tumor 60 438031 68.34 781 89.25 IonXpress_080   792 714 78 0.1 10 - 20 <=50 Postmenopausal
196 4222 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in9-ex10 7573979 AMPL387899835 7573927 7574055 62.8 1 1 SNV G 1 G/A   TP53 exonic missense TTC 10 p.Leu350Phe 1048C>T c.1048C>T   479     P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,88 10-197a SN2-49-20140227_1000_T4_T5_ 871 tumor 60 438031 68.34 781 89.25 IonXpress_080   853 798 55 0.06 <10 <=50 Postmenopausal
197 4224 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in9-ex10 7573987 AMPL387899835 7573927 7574055 62.8 1 1 SNV G 1 G/A   TP53 exonic missense GTC 10 p.Ala347Val 1040C>T c.1040C>T NA   astrocytoma_Grade_IV   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,55 10-197a SN2-49-20140227_1000_T4_T5_ 871 tumor 60 438031 68.34 781 89.25 IonXpress_080   859 802 57 0.07 <10 <=50 Postmenopausal
198 4225 HE10/00 8963 10-197   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in9-ex10 7574004 AMPL387899835 7573927 7574055 62.8 1 1 SNV G 1 G/A   TP53 exonic synonymous TTT 10 WT 1023C>T c.1023C>T NA   squamous_cell_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,27 10-197a SN2-49-20140227_1000_T4_T5_ 871 tumor 60 438031 68.34 781 89.25 IonXpress_080   856 799 57 0.07 <10 <=50 Postmenopausal
199 4229 HE10/00 8963 10-197   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in7-ex8 7577242 AMPL1481474315 7577115 7577289 48.1 2 3 SNV C 1 C/T   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,02 10-197a SN2-49-20140227_1000_T4_T5_ 569 tumor 60 438031 68.34 781 89.25 IonXpress_080   553 499 54 0.1 10 - 20 <=50 Postmenopausal
200 4230 HE10/00 8963 10-197   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex7-in7 7577395 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,04 10-197a SN2-49-20140227_1000_T4_T5_ 524 tumor 60 438031 68.34 781 89.25 IonXpress_080   437 389 48 0.11 10 - 20 <=50 Postmenopausal
201 4232 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577581 AMPL4981177402 7577472 7577638 53.4 2 3 SNV A 1 A/G   TP53 exonic missense CAC 7 p.Tyr234His 700T>C c.700T>C   997 pterygium:keratoacanthoma:malignt_melanoma:MALT_lymphoma:Wilms_tumour:follicular_lymphoma:Burkitt_lymphoma:serous_carcinoma:endometrioid_carcinoma:acute_myeloid_leukaemia:keratosis:transitiol_cell_carcinoma:adenocarcinoma:diffuse_large_B_cell_lymphoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,07 10-197a SN2-49-20140227_1000_T4_T5_ 640 tumor 60 438031 68.34 781 89.25 IonXpress_080   623 573 50 0.08 <10 <=50 Postmenopausal
202 4242 HE10/00 8963 10-197   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex4-in4 7579285 AMPL1481773781 7579257 7579411 56.1 2 3 SNV G 1 G/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,34 10-197a SN2-49-20140227_1000_T4_T5_ 1126 tumor 60 438031 68.34 781 89.25 IonXpress_080 3.0E-5 1071 1022 49 0.05 <10 <=50 Postmenopausal
203 4244 HE10/00 8963 10-197   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex4-in4 7579369 AMPL1481773781 7579257 7579411 56.1 2 3 SNV G 1 G/A   TP53 exonic synonymous AGT 4 WT 318C>T c.318C>T NA   adenocarcinoma:squamous_cell_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-197a SN2-49-20140227_1000_T4_T5_ 1126 tumor 60 438031 68.34 781 89.25 IonXpress_080 1.0E-5 1062 1011 51 0.05 <10 <=50 Postmenopausal
204 4250 HE10/00 8963 10-197   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-197a SN2-49-20140227_1000_T4_T5_ 529 tumor 60 438031 68.34 781 89.25 IonXpress_080   492 23 469 0.95 90 - 100 <=50 Postmenopausal
205 4253 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in3-ex4 7579512 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T   TP53 exonic missense AGT 4 p.Gly59Ser 175G>A c.175G>A NA 26 transitiol_cell_carcinoma:squamous_cell_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,31 10-197a SN2-49-20140227_1000_T4_T5_ 807 tumor 60 438031 68.34 781 89.25 IonXpress_080 2.0E-5 1266 1210 56 0.04 <10 <=50 Postmenopausal
206 4255 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in3-ex4 7579528 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T   TP53 exonic nonsense TGA 4 p.Trp53* 159G>A c.159G>A NA   blast_phase_chronic_myeloid_leukaemia:squamous_cell_carcinoma:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,18 10-197a SN2-49-20140227_1000_T4_T5_ 807 tumor 60 438031 68.34 781 89.25 IonXpress_080   793 736 57 0.07 <10 <=50 Postmenopausal
207 4256 HE10/00 8963 10-197   YES TP53 YES NO other chr17 17p13.1 in3-ex4 7579536 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T   TP53 exonic missense AAA 4 p.Glu51Lys 151G>A c.151G>A NA 6 adenocarcinoma:squamous_cell_carcinoma:NK-T_cell_lymphoma:basal_cell_carcinoma:serous_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,19 10-197a SN2-49-20140227_1000_T4_T5_ 807 tumor 60 438031 68.34 781 89.25 IonXpress_080   796 745 51 0.06 <10 <=50 Postmenopausal
208 4318 HE10/00 13321 10-198   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-198a SN2-48-20140220_1000_T5_T6_ 159 tumor 50 158620 76.77 321.6 91.44 IonXpress_056 1.0E-5 152 8 144 0.95 90 - 100 >50 Postmenopausal
209 4321 HE10/00 11747 10-200 1 NO   NO NO                                                                                             >50 Postmenopausal
210 4347 HE10/00 11361 10-201   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-201 SN2-48-20140220_1000_T5_T6_ 302 tumor 65 63440 83.73 142.4 83.52 IonXpress_054 1.0E-5 275 188 87 0.32 30 - 40 <=50 Premenopausal
211 4372 HE10/00 7313 10-202   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-202 PRO-27-20140729_BR05_10_rest_ 115 tumor 35 394433 78.52 795.3 80.53 IonXpress_037   107 28 79 0.74 70 - 80 <=50 Premenopausal
212 4380 HE10/00 12353 10-203   YES PIK3CA NO NO nonMUTnonSNP chr03 3q26.3 off target 115118822 AMPL6795277223 115118748 115118874 48.8 3 3 SNV G 1 G/A                   NA         0,57 10-203 SN2-48-20140220_1000_T5_T6_ 888 tumor 55 142516 82.26 303.3 83.64 IonXpress_053 1.0E-5 525 404 121 0.23 20 - 30 >50 Postmenopausal
213 4396 HE10/00 7327 10-204 1 NO   NO NO                                                                                             >50 Premenopausal
214 4408 HE10/00 13716 10-205 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-205 PRO-12-20140408_1000_ 122 tumor 40 867844 82.94 1868 78.21 IonXpress_032   113 15 98 0.87 80 - 90 <=50 Premenopausal
215 4433 HE10/00 13716 10-205   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577538 AMPL4981177402 7577472 7577638 53.4 2 3 SNV C 1 C/T   TP53 exonic missense CAG 7 p.Arg248Gln 743G>A c.743G>A   1 HER-positive_carcinoma:oligodendroglioma:medullary_carcinoma:SHH_subtype:hepatocellular_carcinoma:Wilms_tumour:Merkel_cell_carcinoma:follicular_lymphoma:lobular_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:glioma:benign_melanocytic_n rs11540652 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,31 10-205 PRO-12-20140408_1000_ 937 tumor 40 867844 82.94 1868 78.21 IonXpress_032   813 481 332 0.41 40 - 50 <=50 Premenopausal
216 4434 HE10/00 6408 10-206 1 YES TP53 YES NO other chr17 17p13.1 in9-ex10 7574018 AMPL387899835 7573927 7574055 62.8 1 1 SNV G 1 G/A   TP53 exonic missense TGC 10 p.Arg337Cys 1009C>T c.1009C>T NA 999 acute_myeloid_leukaemia:acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS:peritoneal_serous_surface_carcinoma:chromophobe_rel_cell_carcinoma:adenocarcinoma:squamous_cell_carcinoma:neoplasm:hepatocellular_carcinoma:astrocytoma_Grade_IV   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,62 10-206 SN2-48-20140220_1000_T5_T6_ 386 tumor 65 270017 83.21 596 85.56 IonXpress_051 1.0E-5 378 247 131 0.35 30 - 40 >50 Postmenopausal
217 4470 HE10/00 7123 10-207   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-207 SN2-48-20140220_1000_T5_T6_ 920 tumor 60 161348 84.31 360.5 82.9 IonXpress_050 1.0E-5 905 499 406 0.45 40 - 50 >50 Premenopausal
218 4481 HE10/00 14795 10-209 1 NO   NO NO                                                                                             >50 Postmenopausal
219 4511 HE10/00 11083 10-210   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 T/T 0.066                 NA     rs9821873   -2,3 10-210 SN2-48-20140220_1000_T5_T6_ 199 tumor 65 62639 80.12 136 87 IonXpress_001 1.0E-5 188   188 1 90 - 100 <=50 Premenopausal
220 4548 HE10/00 7324 10-211   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-211 SN2-48-20140220_1000_T5_T6_ 376 tumor 50 369069 80 780.6 84.47 IonXpress_002 1.0E-5 321 173 148 0.46 40 - 50 >50 Premenopausal
221 4549 HE10/00 7324 10-211   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-211 SN2-48-20140220_1000_T5_T6_ 376 tumor 50 369069 80 780.6 84.47 IonXpress_002 1.0E-5 340 186 154 0.45 40 - 50 >50 Premenopausal
222 4550 HE10/00 7324 10-211   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-211 SN2-48-20140220_1000_T5_T6_ 344 tumor 50 369069 80 780.6 84.47 IonXpress_002 1.0E-5 314 124 163 0.52 50 - 60 >50 Premenopausal
223 4570 HE10/00 10960 10-212   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-212T PRO-12-20140408_1000_ 218 tumor 40 181017 79.28 371.9 78.05 IonXpress_033   198 62 136 0.69 60 - 70 <=50 Premenopausal
224 4571 HE10/00 10960 10-212   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-212T PRO-12-20140408_1000_ 218 tumor 40 181017 79.28 371.9 78.05 IonXpress_033   199 64 135 0.68 60 - 70 <=50 Premenopausal
225 4573 HE10/00 8958 10-213 1 NO   NO NO                                                                                             >50 Postmenopausal
226 4607 HE10/00 10279 10-216 1 NO   NO NO                                                                                             >50 Postmenopausal
227 4630 HE10/00 11203 10-217 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-217 PRO-27-20140729_BR05_10_rest_ 321 tumor 30 691029 86.51 1514 81.05 IonXpress_038   311 152 159 0.51 50 - 60 >50 Postmenopausal
228 4655 HE10/00 14761 10-218 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-218 PRO-27-20140729_BR05_10_rest_ 3136 tumor 35 3008669 84.08 6583 83.09 IonXpress_039   1998 171 1827 0.91 90 - 100 >50 Postmenopausal
229 4684 HE10/00 14761 10-218   YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 ex10-in10 7573897 AMPL1481481122 7573824 7573997 62.3 1 1 SNV T 1 T/A 0.003 TP53 intronic             NA   squamous_cell_carcinoma rs17880847 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,75 10-218 PRO-27-20140729_BR05_10_rest_ 1273 tumor 35 3008669 84.08 6583 83.09 IonXpress_039   1197 610 587 0.49 40 - 50 >50 Postmenopausal
230 4685 HE10/00 12290 10-219 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-219T PRO-12-20140408_1000_ 193 tumor 45 745328 84.24 1663 80.44 IonXpress_035   176 30 146 0.83 80 - 90 <=50 Premenopausal
231 4700 HE10/00 12290 10-219   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-219T PRO-12-20140408_1000_ 4568 tumor 45 745328 84.24 1663 80.44 IonXpress_035   1997 1709 288 0.14 10 - 20 <=50 Premenopausal
232 4701 HE10/00 12290 10-219   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-219T PRO-12-20140408_1000_ 2759 tumor 45 745328 84.24 1663 80.44 IonXpress_035   414 368 46 0.11 10 - 20 <=50 Premenopausal
233 4712 HE10/00 13352 10-221 1 NO   NO NO                                                                                             <=50 Premenopausal
234 4739 HE10/00 14860 10-222   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/C   PIK3CA exonic missense CAG 10 p.Glu545Gln 1633G>C c.1633G>C NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-222 SN2-48-20140220_1000_T5_T6_ 1343 tumor 60 205404 77.5 408.9 78.51 IonXpress_007 1.0E-5 1295 1044 251 0.19 10 - 20 >50 Postmenopausal
235 4749 HE10/00 14459 10-223 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-223c SN2-48-20140220_1000_T5_T6_ 198 tumor 60 385501 73.83 746 88.94 IonXpress_008 1.0E-5 175 86 71 0.41 40 - 50 >50 Postmenopausal
236 4783 HE10/00 14527 10-224 1 NO   NO NO                                                                                             >50 Premenopausal
237 4804 HE10/00 14485 10-237 1 YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-237b SN2-48-20140220_1000_T5_T6_ 1129 tumor 50 195556 74.75 381.7 84.52 IonXpress_010 1.0E-5 1068 688 380 0.36 30 - 40 >50 Postmenopausal
238 4826 HE10/00 14485 10-237   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577539 AMPL4981177402 7577472 7577638 53.4 2 3 SNV G 1 G/C   TP53 exonic missense GGG 7 p.Arg248Gly 742C>G c.742C>G   1 HER-positive_carcinoma:oligodendroglioma:hepatocellular_carcinoma:Merkel_cell_carcinoma:follicular_lymphoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:superficial_spreading:hyperplasia:basal_cell_carcinoma:osteosarcoma:astrocytoma:pleomorphi rs121912651 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,64 10-237b SN2-48-20140220_1000_T5_T6_ 171 tumor 50 195556 74.75 381.7 84.52 IonXpress_010 1.0E-5 159 105 54 0.34 30 - 40 >50 Postmenopausal
239 4839 HE10/00 14797 10-238   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-238 SN2-48-20140220_1000_T5_T6_ 564 tumor 60 180985 81.66 383 79.17 IonXpress_011 1.0E-5 538 201 337 0.63 60 - 70 >50 Postmenopausal
240 4850 HE10/00 14807 10-239 1 YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-239 SN2-48-20140220_1000_T5_T6_ 649 tumor 65 126342 76.67 251.5 88.46 IonXpress_012 1.0E-5 617 313 304 0.49 40 - 50 >50 Premenopausal
241 4870 HE10/00 13473 10-240 1 YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex6-in6 7578142 AMPL4574207192 7578114 7578273 53.5 1 1 SNV C 1 C/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,4 10-240 SN2-48-20140220_1000_T5_T6_ 161 tumor 60 74568 74.49 145.9 87.96 IonXpress_013 1.0E-5 138 65 73 0.53 50 - 60 >50 Postmenopausal
242 4884 HE10/00 14539 10-241 1 NO   NO NO                                                                                             >50 Postmenopausal
243 4903 HE10/00 14849 10-242 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-242 SN2-42-20140211_1000_T17_ 510 tumor 60 461762 85.8 1098 86.47 IonXpress_018 1.0E-5 483 191 292 0.6 60 - 70 <=50 Premenopausal
244 4914 HE10/00 14849 10-242   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-242 SN2-42-20140211_1000_T17_ 3963 tumor 60 461762 85.8 1098 86.47 IonXpress_018 1.0E-5 2000 923 1077 0.54 50 - 60 <=50 Premenopausal
245 4927 HE10/00 14849 10-242   YES TP53 YES NO other chr17 17p13.1 ex5-in5 7578382 AMPL1992796664 7578284 7578458 63.7 1 2 SNV G 1 G/T   TP53 exonic nonsense TAA 5 p.Ser183* 548C>A c.548C>A NA   transitiol_cell_carcinoma:peripheral_T_cell_lymphoma_unspecified:diffuse_large_B_cell_lymphoma:adenocarcinoma:squamous_cell_carcinoma:neoplasm:small_cell_carcinoma:serous_carcinoma:astrocytoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,44 10-242 SN2-42-20140211_1000_T17_ 652 tumor 60 461762 85.8 1098 86.47 IonXpress_018 1.0E-5 647 450 197 0.3 30 - 40 <=50 Premenopausal
246 4928 HE10/00 9992 10-245 1 NO   NO NO                                                                                             <=50 Premenopausal
247 4942 HE10/00 9726 10-246 1 NO   NO NO                                                                                             <=50 Postmenopausal
248 4957 HE10/00 10968 10-249 1 NO   NO NO                                                                                             >50 Postmenopausal
249 4959 HE10/00 10904 10-250 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-250 PRO-12-20140408_1000_ 750 tumor 45 1600250 82.84 3521 81.75 IonXpress_036   681 95 586 0.86 80 - 90 <=50 Postmenopausal
250 4977 HE10/00 7344 10-251 1 NO   NO NO                                                                                             >50 Postmenopausal
251 4994 HE10/00 12820 10-252   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-252 SN2-50-20140305_1000_T6_T2_ 187 tumor 70 90913 83.77 211.6 85.14 IonXpress_019   178 83 95 0.53 50 - 60 >50 Postmenopausal
252 4995 HE10/00 12820 10-252   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/C   PIK3CA exonic missense CAG 10 p.Glu545Gln 1633G>C c.1633G>C NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-252 SN2-50-20140305_1000_T6_T2_ 241 tumor 70 90913 83.77 211.6 85.14 IonXpress_019   230 176 54 0.23 20 - 30 >50 Postmenopausal
253 5002 HE10/00 6419 10-253 1 YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-253 SN2-50-20140305_1000_T6_T2_ 628 tumor 60 109875 78.05 229 85.47 IonXpress_020 1.0E-5 593 292 301 0.51 50 - 60 >50 Postmenopausal
254 5025 HE10/00 13041 10-254 1 NO   NO NO                                                                                             >50 Postmenopausal
255 5041 HE10/00 6659 10-256 1 NO   NO NO                                                                                             >50 Postmenopausal
256 5051 HE10/00 13937 10-257 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-257 SN2-50-20140305_1000_T6_T2_ 136 tumor 50 45851 76.02 93.94 89.26 IonXpress_024   121 42 79 0.65 60 - 70 >50 Postmenopausal
257 5068 HE10/00 13937 10-257   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-257 SN2-50-20140305_1000_T6_T2_ 136 tumor 50 45851 76.02 93.94 89.26 IonXpress_024   119 42 77 0.65 60 - 70 >50 Postmenopausal
258 5069 HE10/00 7339 10-258 1 NO   NO NO                                                                                             >50 Postmenopausal
259 5107 HE10/00 13940 10-259   YES TP53 YES NO other chr17 17p13.1 ex4-in4 7579377 AMPL1481773781 7579257 7579411 56.1 2 3 SNV G 1 G/A   TP53 exonic nonsense TAG 4 p.Gln104* 310C>T c.310C>T NA   transitiol_cell_carcinoma:acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS:adenocarcinoma:squamous_cell_carcinoma:intestil_adenocarcinoma:small_cell_carcinoma:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,63 10-259 SN2-42-20140211_1000_T17_ 353 tumor 60 191138 74.75 370.8 84.67 IonXpress_019 1.0E-5 341 253 88 0.26 20 - 30 <=50 Postmenopausal
260 5109 HE10/00 12816 10-260 1 NO   NO NO                                                                                             >50 Postmenopausal
261 5132 HE10/00 8940 10-261   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-261 PRO-12-20140408_1000_ 4875 tumor 45 614933 78.3 1217 74.65 IonXpress_037   1992 1546 446 0.22 20 - 30 >50 Postmenopausal
262 5138 HE10/00 7322 10-263 1 NO   NO NO                                                                                             >50 Postmenopausal
263 5167 HE10/00 13612 10-265 1 NO   NO NO                                                                                             >50 Postmenopausal
264 5184 HE10/00 13606 10-269 1 YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577121 AMPL706844244 7576996 7577170 61.6 1 2 SNV G 1 G/A   TP53 exonic missense TGT 8 p.Arg273Cys 817C>T c.817C>T   1 gliosarcoma:oligodendroglioma:Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour:hepatocellular_carcinoma:yolk_sac_tumour:follicular_lymphoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:carcinoid-endocrine_tumour:lymphoepithelioma_lik rs121913343 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,3 10-269 PRO-12-20140408_1000_ 1625 tumor 40 702102 84.05 1542 58.96 IonXpress_038   1445 1076 369 0.26 20 - 30 <=50 Premenopausal
265 5204 HE10/00 11150 10-272 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-272T SN2-50-20140305_1000_T6_T2_ 352 tumor 50 260622 78.27 543.6 90.73 IonXpress_028   334 25 309 0.93 90 - 100 <=50 Premenopausal
266 5219 HE10/00 11150 10-272   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-272T SN2-50-20140305_1000_T6_T2_ 587 tumor 50 260622 78.27 543.6 90.73 IonXpress_028   498 366 132 0.27 20 - 30 <=50 Premenopausal
267 5227 HE10/00 10140 10-273 1 NO   NO NO                                                                                             <=50 Premenopausal
268 5239 HE10/00 7111 10-276 1 NO   NO NO                                                                                             >50 Postmenopausal
269 5252 HE10/00 11214 10-277 1 NO   NO NO                                                                                             <=50 Premenopausal
270 5253 HE10/00 6375 10-281 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-281T SN2-50-20140305_1000_T6_T2_ 130 tumor 60 131520 71.29 238 78.81 IonXpress_004   115 6 109 0.95 90 - 100 <=50 Premenopausal
271 5265 HE10/00 6375 10-281   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-281T SN2-50-20140305_1000_T6_T2_ 394 tumor 60 131520 71.29 238 78.81 IonXpress_004   338 256 82 0.24 20 - 30 <=50 Premenopausal
272 5270 HE10/00 6375 10-281   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in6-ex7-in7 7577492 AMPL4981177402 7577472 7577638 53.4 2 3 INDEL TCCTGA 5 TCCTGA/T   TP53 splicesite_3     7       NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0.73,-1.35,2.3,1.16,-0.38,1.95 10-281T SN2-50-20140305_1000_T6_T2_ 406 tumor 60 131520 71.29 238 78.81 IonXpress_004   390 289 101 0.26 20 - 30 <=50 Premenopausal
273 5272 HE10/00 9694 10-282 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-282 SN2-50-20140305_1000_T6_T2_ 715 tumor 60 483571 79.07 1016 82.19 IonXpress_008   666 463 203 0.3 30 - 40 >50 Premenopausal
274 5303 HE10/00 9694 10-282   YES TP53 YES NO other chr17 17p13.1 in5-ex6 7578265 AMPL4392179183 7578209 7578382 58.3 1 2 SNV A 1 A/T   TP53 exonic missense AAC 6 p.Ile195Asn 584T>A c.584T>A NA   medullary_carcinoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:serous_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:endometrioid_carcinoma:acute_myeloid_leukaemia:transitiol_c   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,46 10-282 SN2-50-20140305_1000_T6_T2_ 824 tumor 60 483571 79.07 1016 82.19 IonXpress_008   756 431 325 0.43 40 - 50 >50 Premenopausal
275 5305 HE10/00 8372 10-283 1 YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 ex6-in6 7578210 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C 0.007 TP53 exonic synonymous CGG 6 WT 639A>G c.639A>G NA   oligodendroglioma_Grade_II:adenocarcinoma:adenoma:carcinoma rs1800372 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,16 10-283 SN2-44-20140214_1000_T7_T18 215 tumor 55 123674 72.58 239.7 50.28 IonXpress_049 1.0E-5 212 125 87 0.41 40 - 50 <=50 Premenopausal
276 5309 HE10/00 8372 10-283   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-283 SN2-44-20140214_1000_T7_T18 661 tumor 55 123674 72.58 239.7 50.28 IonXpress_049 1.0E-5 641 374 267 0.42 40 - 50 <=50 Premenopausal
277 5310 HE10/00 8372 10-283   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-283 SN2-44-20140214_1000_T7_T18 1312 tumor 55 123674 72.58 239.7 50.28 IonXpress_049 1.0E-5 1300 1141 159 0.12 10 - 20 <=50 Premenopausal
278 5317 HE10/00 13030 10-284 1 NO   NO NO                                                                                             <=50 Premenopausal
279 5346 HE10/00 7856 10-285   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-285 SN2-44-20140214_1000_T7_T18 439 tumor 60 34591 58.81 51.11 49.43 IonXpress_051 1.0E-5 435 288 147 0.34 30 - 40 <=50 Premenopausal
280 5361 HE10/00 8930 10-287 1 NO   NO NO                                                                                             <=50 Postmenopausal
281 5400 HE10/00 10478 10-288   YES TP53 YES NO other chr17 17p13.1 ex6-in6 7578205 AMPL4574207192 7578114 7578273 53.5 1 1 SNV C 1 C/A   TP53 exonic missense ATT 6 p.Ser215Ile 644G>T c.644G>T NA   transitiol_cell_carcinoma:chromophobe_rel_cell_carcinoma:adenocarcinoma:squamous_cell_carcinoma:mantle_cell_lymphoma:hepatocellular_carcinoma:neoplasm:astrocytoma_Grade_IV:follicular_lymphoma:small_cell_carcinoma:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,63 10-288 SN2-44-20140214_1000_T7_T18 121 tumor 60 80009 61.84 114.9 72.56 IonXpress_054 1.0E-5 102 60 42 0.41 40 - 50 >50 Postmenopausal
282 5417 HE10/00 8944 10-289   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-289 PRO-12-20140408_1000_ 4866 tumor 40 941192 87.98 2162 73.96 IonXpress_039   1989 987 1002 0.5 50 - 60 >50 Postmenopausal
283 5418 HE10/00 8944 10-289   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-289 PRO-12-20140408_1000_ 5741 tumor 40 941192 87.98 2162 73.96 IonXpress_039   418 285 133 0.32 30 - 40 >50 Postmenopausal
284 5427 HE10/00 8944 10-289   YES TP53 YES NO other chr17 17p13.1 in6-ex7-in7 7577580 AMPL4981177402 7577472 7577638 53.4 2 3 SNV T 1 T/C   TP53 exonic missense TGC 7 p.Tyr234Cys 701A>G c.701A>G NA   HER-positive_carcinoma:lymphoid_neoplasm:follicular_lymphoma:lobular_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:mucinous_carcinoma:adrel_cortical_carcinoma:mantle_cell_lymphoma:adenoma:non_small_cell_carcinoma:astrocytoma:astrocy   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,84 10-289 PRO-12-20140408_1000_ 1854 tumor 40 941192 87.98 2162 73.96 IonXpress_039   1701 1211 490 0.29 20 - 30 >50 Postmenopausal
285 5428 HE10/00 9718 10-290 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-290 SN2-44-20140214_1000_T7_T18 448 tumor 60 75982 70.69 135.6 49.53 IonXpress_055 1.0E-5 368 299 69 0.19 10 - 20 >50 Postmenopausal
286 5441 HE10/00 9718 10-290   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-290 SN2-44-20140214_1000_T7_T18 448 tumor 60 75982 70.69 135.6 49.53 IonXpress_055 1.0E-5 372 300 72 0.19 10 - 20 >50 Postmenopausal
287 5442 HE10/00 10493 10-291 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-291 PRO-12-20140408_1000_ 791 tumor 40 1768112 81.28 3794 81.65 IonXpress_040   716 95 621 0.87 80 - 90 >50 Postmenopausal
288 5456 HE10/00 10493 10-291   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-291 PRO-12-20140408_1000_ 3970 tumor 40 1768112 81.28 3794 81.65 IonXpress_040   1464 1271 193 0.13 10 - 20 >50 Postmenopausal
289 5463 HE10/00 11698 10-292 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-292 SN2-44-20140214_1000_T7_T18 259 tumor 65 540483 76.41 1090 75.62 IonXpress_056 1.0E-5 227 147 80 0.35 30 - 40 >50 Postmenopausal
290 5479 HE10/00 11698 10-292   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-292 SN2-44-20140214_1000_T7_T18 1239 tumor 65 540483 76.41 1090 75.62 IonXpress_056 1.0E-5 182 136 46 0.25 20 - 30 >50 Postmenopausal
291 5494 HE10/00 10700 10-294 1 YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex7-in7 7577432 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A   TP53 intronic             NA       P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,13 10-294 SN2-44-20140214_1000_T7_T18 194 tumor 65 27089 78.35 55.52 50.62 IonXpress_058 1.0E-5 159 43 75 0.47 40 - 50 <=50 Premenopausal
292 5517 HE10/00 10214 10-295   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-295 PRO-12-20140408_1000_ 3269 tumor 40 495656 81.78 1074 78.37 IonXpress_041   1998 1150 848 0.42 40 - 50 <=50 Premenopausal
293 5527 HE10/00 13466 10-301 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-301T PRO-12-20140408_1000_ 263 tumor 40 1055409 84.04 2357 81.8 IonXpress_042   239 43 196 0.82 80 - 90 >50 Postmenopausal
294 5545 HE10/00 13466 10-301   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-301T PRO-12-20140408_1000_ 2855 tumor 40 1055409 84.04 2357 81.8 IonXpress_042   700 241 459 0.66 60 - 70 >50 Postmenopausal
295 5555 HE10/00 13466 10-301   YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 ex6-in6 7578210 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C 0.007 TP53 exonic synonymous CGG 6 WT 639A>G c.639A>G NA   oligodendroglioma_Grade_II:adenocarcinoma:adenoma:carcinoma rs1800372 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,16 10-301T PRO-12-20140408_1000_ 926 tumor 40 1055409 84.04 2357 81.8 IonXpress_042   903 679 224 0.25 20 - 30 >50 Postmenopausal
296 5557 HE10/00 14852 10-303 1 YES TP53 YES NO other chr17 17p13.1 ex6-in6 7578190 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C   TP53 exonic missense TGT 6 p.Tyr220Cys 659A>G c.659A>G NA   acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS:lymphoid_neoplasm:medullary_carcinoma:hepatocellular_carcinoma:intestil_adenocarcinoma:undifferentiated_adenocarcinoma:adult_T_cell_lymphoma-leukaemia:chronic_lymphocytic_leukaemia-sma rs121912666 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,13 10-303 PRO-12-20140408_1000_ 296 tumor 40 700532 83.83 1536 82.36 IonXpress_043   275 156 119 0.43 40 - 50 >50 Postmenopausal
297 5570 HE10/00 14852 10-303   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-303 PRO-12-20140408_1000_ 1966 tumor 40 700532 83.83 1536 82.36 IonXpress_043   928 437 491 0.53 50 - 60 >50 Postmenopausal
298 5577 HE10/00 14637 10-304 1 NO   NO NO                                                                                             <=50 Premenopausal
299 5600 HE10/00 14427 10-305 1 NO   NO NO                                                                                             <=50 Premenopausal
300 5669 HE10/00 14052 10-306   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-306T SN2-44-20140214_1000_T7_T18 258 tumor 60 58375 70.06 107.4 81.78 IonXpress_065 1.0E-5 225 99 126 0.56 50 - 60 <=50 Premenopausal
301 5670 HE10/00 14052 10-306   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-306T SN2-44-20140214_1000_T7_T18 258 tumor 60 58375 70.06 107.4 81.78 IonXpress_065 1.0E-5 231 101 130 0.56 50 - 60 <=50 Premenopausal
302 5703 HE10/00 14819 10-307   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-307 SN2-44-20140214_1000_T7_T18 1623 tumor 65 169346 73.38 323.2 78.24 IonXpress_066 1.0E-5 1611 1069 542 0.34 30 - 40 <=50 Premenopausal
303 5724 HE10/00 7301 10-309 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-309 SN2-53-20140312_r1000_rerun 1042 tumor 60 1389373 88.24 3291 80.41 IonXpress_068 1.0E-5 1004 521 483 0.48 40 - 50 <=50 Premenopausal
304 5742 HE10/00 7301 10-309   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-309 SN2-53-20140312_r1000_rerun 3987 tumor 60 1389373 88.24 3291 80.41 IonXpress_068 1.0E-5 1996 1087 909 0.46 40 - 50 <=50 Premenopausal
305 5744 HE10/00 7301 10-309   YES PIK3CA NO YES other chr03 3q26.3 in1 178866408 AMPL4347527835 178866384 178866543 78.2     SNV C 1 C/T 0.149 PIK3CA intronic             NA     rs2699887 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 -0,07 10-309 SN2-53-20140312_r1000_rerun 557 tumor 60 1389373 88.24 3291 80.41 IonXpress_068 1.0E-5 317 111 206 0.65 60 - 70 <=50 Premenopausal
306 5758 HE10/00 7301 10-309   YES TP53 YES NO other chr17 17p13.1 in9-ex10 7574002 AMPL387899835 7573927 7574055 62.8 1 1 SNV C 1 C/G   TP53 exonic missense CCA 10 p.Arg342Pro 1025G>C c.1025G>C NA   acute_myeloid_leukaemia:glioma:squamous_cell_carcinoma:adenoma:hepatocellular_carcinoma:neoplasm:serous_carcinoma:endometrioid_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,27 10-309 SN2-53-20140312_r1000_rerun 2137 tumor 60 1389373 88.24 3291 80.41 IonXpress_068 1.0E-5 1986 1760 226 0.11 10 - 20 <=50 Premenopausal
307 5760 HE10/00 7301 10-309   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577120 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/T   TP53 exonic missense CAT 8 p.Arg273His 818G>A c.818G>A NA   HER-positive_carcinoma:hepatocellular_carcinoma:Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour:yolk_sac_tumour:Merkel_cell_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:carcinoid-endocrine_tumour:mantle_cell_lymphoma:margi rs28934576 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,56 10-309 SN2-53-20140312_r1000_rerun 3001 tumor 60 1389373 88.24 3291 80.41 IonXpress_068 1.0E-5 2000 1599 401 0.2 20 - 30 <=50 Premenopausal
308 5764 HE10/00 11363 10-311 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-311 SN2-44-20140214_1000_T7_T18 266 tumor 60 63574 79.05 131.8 68.8 IonXpress_070 1.0E-5 217 118 99 0.46 40 - 50 <=50 Premenopausal
309 5787 HE10/00 11363 10-311   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-311 SN2-44-20140214_1000_T7_T18 266 tumor 60 63574 79.05 131.8 68.8 IonXpress_070 1.0E-5 220 119 101 0.46 40 - 50 <=50 Premenopausal
310 5789 HE10/00 11236 10-313 1 NO   NO NO                                                                                             >50 Postmenopausal
311 5814 HE10/00 14616 10-315   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-315 PRO-12-20140408_1000_ 3485 tumor 40 523872 83.34 1151 77.47 IonXpress_045   1991 1636 355 0.18 10 - 20 >50 Postmenopausal
312 5820 HE10/00 8898 10-316 1 NO   NO NO                                                                                             <=50 Premenopausal
313 5851 HE10/00 12561 10-321   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-321 SN2-28-20140109_1000_T8_ 297 tumor 70 308124 86.33 686.3 50.58 IonXpress_028 1.0E-5 281 14 267 0.95 90 - 100 <=50 Premenopausal
314 5852 HE10/00 14851 10-322 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-322 SN2-28-20140109_1000_T8_ 383 tumor 60 280601 78.47 565.7 72.8 IonXpress_029 1.0E-5 355 27 328 0.92 90 - 100 <=50 Premenopausal
315 5871 HE10/00 14851 10-322   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-322 SN2-28-20140109_1000_T8_ 305 tumor 60 280601 78.47 565.7 72.8 IonXpress_029 1.0E-5 268 183 85 0.32 30 - 40 <=50 Premenopausal
316 5883 HE10/00 14851 10-322   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in5-ex6 7578297 AMPL4392179183 7578209 7578382 58.3 1 2 INDEL CAATCAGTGAGG 11 CAATCAGTGAGG/C   TP53 intronic             NA     rs76962868:rs66654862 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0.29,0.06,1.59,-0.23,-0.31,-0.23,-0.97,-0.29,0.2,2.0,-0.37,-0.19 10-322 SN2-28-20140109_1000_T8_ 255 tumor 60 280601 78.47 565.7 72.8 IonXpress_029 1.0E-5 229 137 92 0.4 40 - 50 <=50 Premenopausal
317 5884 HE10/00 13449 10-324 1 NO   NO NO                                                                                             <=50 Premenopausal
318 5892 HE10/00 8907 10-325 1 NO   NO NO                                                                                             <=50 Premenopausal
319 5898 HE10/00 13572 10-326 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-326 PRO-12-20140408_1000_ 109 tumor 40 333051 65.15 550.8 80.23 IonXpress_046   102 15 87 0.85 80 - 90 <=50 Premenopausal
320 5914 HE10/00 13572 10-326   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-326 PRO-12-20140408_1000_ 904 tumor 40 333051 65.15 550.8 80.23 IonXpress_046   870 407 463 0.53 50 - 60 <=50 Premenopausal
321 5915 HE10/00 13572 10-326   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-326 PRO-12-20140408_1000_ 1759 tumor 40 333051 65.15 550.8 80.23 IonXpress_046   1722 1287 435 0.25 20 - 30 <=50 Premenopausal
322 5925 HE10/00 13046 10-331 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-331 SN2-28-20140109_1000_T8_ 149 tumor 60 134382 67.91 234.4 52.01 IonXpress_034 1.0E-5 139 7 132 0.95 90 - 100 >50 Postmenopausal
323 5938 HE10/00 13182 10-334 1 NO   NO NO                                                                                             >50 Postmenopausal
324 5978 HE10/00 8507 10-335   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952049 AMPL1497305257 178951918 178952092 38.1 3 3 SNV C 1 C/T   PIK3CA exonic missense GTT 21 p.Ala1035Val 3104C>T c.3104C>T NA 1 adenocarcinoma:endometrioid_carcinoma:carcinoma   PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,89 10-335 SN2-28-20140109_1000_T8_ 809 tumor 60 312474 75.23 605 62.26 IonXpress_037 1.0E-5 807 750 57 0.07 <10 <=50 Premenopausal
325 5995 HE10/00 9999 10-336 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-336 SN2-28-20140109_1000_T8_ 320 tumor 65 233593 77.13 472.3 85.22 IonXpress_038 1.0E-5 271 129 132 0.49 40 - 50 >50 Postmenopausal
326 6010 HE10/00 9999 10-336   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-336 SN2-28-20140109_1000_T8_ 436 tumor 65 233593 77.13 472.3 85.22 IonXpress_038 1.0E-5 418 220 198 0.47 40 - 50 >50 Postmenopausal
327 6019 HE10/00 14798 10-337 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-337 SN2-28-20140109_1000_T8_ 315 tumor 65 148193 77.04 295.1 65.03 IonXpress_039 1.0E-5 289 20 269 0.93 90 - 100 >50 Postmenopausal
328 6036 HE10/00 14798 10-337   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-337 SN2-28-20140109_1000_T8_ 291 tumor 65 148193 77.04 295.1 65.03 IonXpress_039 1.0E-5 256 122 134 0.52 50 - 60 >50 Postmenopausal
329 6063 HE10/00 13153 10-338   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-338 SN2-28-20140109_1000_T8_ 252 tumor 60 148941 70.46 244 71.38 IonXpress_040 1.0E-5 241 132 109 0.45 40 - 50 >50 Postmenopausal
330 6074 HE10/00 13153 10-338   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-338 SN2-28-20140109_1000_T8_ 180 tumor 60 148941 70.46 244 71.38 IonXpress_040 1.0E-5 137 7 130 0.95 90 - 100 >50 Postmenopausal
331 6079 HE10/00 9988 10-347 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-347 SN2-28-20140109_1000_T8_ 336 tumor 60 264605 78.59 541 80.33 IonXpress_045 1.0E-5 293 162 120 0.41 40 - 50 <=50 Premenopausal
332 6096 HE10/00 9988 10-347   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-347 SN2-28-20140109_1000_T8_ 414 tumor 60 264605 78.59 541 80.33 IonXpress_045 1.0E-5 356 274 82 0.23 20 - 30 <=50 Premenopausal
333 6132 HE10/00 13837 10-348   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-348 SN2-28-20140109_1000_T8_ 124 tumor 70 146547 73.9 283.7 85.48 IonXpress_046 1.0E-5 117 5 112 0.96 90 - 100 >50 Postmenopausal
334 6133 HE10/00 13029 10-349 1 NO   NO NO                                                                                             <=50 Premenopausal
335 6150 HE10/00 14665 10-350 1 NO   NO NO                                                                                             <=50 Premenopausal
336 6177 HE10/00 6377 10-355 1 NO   NO NO                                                                                             <=50 Premenopausal
337 6192 HE10/00 14202 10-360 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-360 SN2-32-20140116_1000_T9_ 557 tumor 50 421321 86.53 952.6 85.89 IonXpress_051 1.0E-5 490 27 463 0.94 90 - 100 >50 Postmenopausal
338 6212 HE10/00 14202 10-360   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in6-ex7-in7 7577610 AMPL4981177402 7577472 7577638 53.4 2 3 SNV T 1 T/C   TP53 splicesite_5     7       NA   adenocarcinoma:squamous_cell_carcinoma:hepatocellular_carcinoma:non_small_cell_carcinoma:small_cell_carcinoma:ductal_carcinoma:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,75 10-360 SN2-32-20140116_1000_T9_ 1361 tumor 50 421321 86.53 952.6 85.89 IonXpress_051 1.0E-5 1240 700 540 0.44 40 - 50 >50 Postmenopausal
339 6213 HE10/00 13761 10-361 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-361 SN2-32-20140116_1000_T9_ 535 tumor 65 253809 81.25 536.3 85.5 IonXpress_052 1.0E-5 473 34 439 0.93 90 - 100 <=50 Premenopausal
340 6236 HE10/00 12672 10-364 1 NO   NO NO                                                                                             >50 Postmenopausal
341 6240 HE10/00 14533 10-365 1 NO   NO NO                                                                                             <=50 Premenopausal
342 6254 HE10/00 9995 10-376 1 NO   NO NO                                                                                             >50 Premenopausal
343 6262 HE10/00 6780 10-377   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-377 SN2-32-20140116_1000_T9_ 248 tumor 60 46725 75.96 84.37 71.83 IonXpress_059 1.0E-5 244 160 84 0.34 30 - 40 >50 Premenopausal
344 6265 HE10/00 13036 10-382 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-382 SN2-32-20140116_1000_T9_ 460 tumor 60 240677 84.47 516.3 54.81 IonXpress_062 1.0E-5 396 28 368 0.93 90 - 100 >50 Postmenopausal
345 6280 HE10/00 13036 10-382   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 in8-ex9-in9 7576927 AMPL1516620128 7576812 7576978 50 1 2 SNV C 1 C/A   TP53 splicesite_5     9       NA   adenocarcinoma:squamous_cell_carcinoma:neoplasm:hepatocellular_carcinoma:astrocytoma_Grade_IV:serous_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,46 10-382 SN2-32-20140116_1000_T9_ 584 tumor 60 240677 84.47 516.3 54.81 IonXpress_062 1.0E-5 520 431 89 0.17 10 - 20 >50 Postmenopausal
346 6282 HE10/00 14538 10-384 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-384 PRO-12-20140408_1000_ 398 tumor 45 1868843 87.3 4370 80.75 IonXpress_047   343 165 178 0.52 50 - 60 <=50 Premenopausal
347 6297 HE10/00 14538 10-384   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-384 PRO-12-20140408_1000_ 6759 tumor 45 1868843 87.3 4370 80.75 IonXpress_047   1361 1115 246 0.18 10 - 20 <=50 Premenopausal
348 6305 HE10/00 14538 10-384   YES TP53 YES NO other chr17 17p13.1 in4-ex5 7578550 AMPL6326144323 7578407 7578581 61.7 1 3 SNV G 1 G/T   TP53 exonic missense TAC 5 p.Ser127Tyr 380C>A c.380C>A NA   hamartoma:malignt_melanoma:astrocytoma_Grade_II:hepatocellular_carcinoma:intestil_adenocarcinoma:NS:oligoastrocytoma_Grade_II:endometrioid_carcinoma:serous_carcinoma:in_situ_epithelial_neoplasm:transitiol_cell_carcinoma:diffuse_large_B_cell_lymphoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,45 10-384 PRO-12-20140408_1000_ 1732 tumor 45 1868843 87.3 4370 80.75 IonXpress_047   1626 1228 398 0.24 20 - 30 <=50 Premenopausal
349 6345 HE10/00 10426 10-386   YES TP53 NO YES other chr17 17p13.1 in8-ex9-in9 7576841 AMPL1516620128 7576812 7576978 50 1 2 SNV A 1 A/G 0.017 TP53 intronic             NA     rs1800899 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,12 10-386   164 tumor                     0.59 50 - 60 >50 Premenopausal
350 6346 HE10/00 10426 10-386   YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-386   339 tumor                     0.44 40 - 50 >50 Premenopausal
351 6349 HE10/00 13024 10-388 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-388   178 tumor                     0.95   <=50 Premenopausal
352 6363 HE10/00 13024 10-388   YES PIK3CA NO YES other chr03 3q26.3 in1-ex2 178916519 AMPL1786991673 178916463 178916617 30.9 1 1 SNV T 1 T/C 0.03 PIK3CA intronic             NA     rs11709323 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 0,03 10-388   354 tumor                     0.5 50 - 60 <=50 Premenopausal
353 6371 HE10/00 12827 10-391 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-391 SN2-32-20140116_1000_T9_ 191 tumor 55 229494 85.03 508.2 86.6 IonXpress_067 1.0E-5 172 112 60 0.35 30 - 40 >50 Postmenopausal
354 6380 HE10/00 12827 10-391   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-391 SN2-32-20140116_1000_T9_ 1130 tumor 55 229494 85.03 508.2 86.6 IonXpress_067 1.0E-5 1111 970 141 0.13 10 - 20 >50 Postmenopausal
355 6390 HE10/00 12827 10-391   YES TP53 YES NO other chr17 17p13.1 in7-ex8 7577149 AMPL1481474315 7577115 7577289 48.1 2 3 INDEL AT 1 AT/A   TP53 exonic frameshiftDeletion   8 p.Asn263Ile 788_788delA c.788_788delA NA   adenocarcinoma:squamous_cell_carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -3.28,0.07 10-391 SN2-32-20140116_1000_T9_ 374 tumor 55 229494 85.03 508.2 86.6 IonXpress_067 1.0E-5 343 284 59 0.17 10 - 20 >50 Postmenopausal
356 6392 HE10/00 12827 10-391   YES TP53 NO NO nonMUTnonSNP chr17 17p13.1 ex6-in6 7578146 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C   TP53 intronic             NA   diffuse_large_B_cell_lymphoma rs34949160 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,3 10-391 SN2-32-20140116_1000_T9_ 208 tumor 55 229494 85.03 508.2 86.6 IonXpress_067 1.0E-5 171 59 110 0.64 60 - 70 >50 Postmenopausal
357 6393 HE10/00 14850 10-392 1 NO   NO NO                                                                                             <=50 Premenopausal
358 6417 HE10/00 10236 10-393 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-393 SN2-32-20140116_1000_T9_ 290 tumor 60 439628 88.01 1001 81.15 IonXpress_068 1.0E-5 249 132 117 0.47 40 - 50 <=50 Premenopausal
359 6430 HE10/00 10236 10-393   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-393 SN2-32-20140116_1000_T9_ 1296 tumor 60 439628 88.01 1001 81.15 IonXpress_068 1.0E-5 1229 668 561 0.46 40 - 50 <=50 Premenopausal
360 6444 HE10/00 10236 10-393   YES TP53 YES NO other chr17 17p13.1 in9-ex10 7574002 AMPL387899835 7573927 7574055 62.8 1 1 SNV C 1 C/G   TP53 exonic missense CCA 10 p.Arg342Pro 1025G>C c.1025G>C NA   acute_myeloid_leukaemia:glioma:squamous_cell_carcinoma:adenoma:hepatocellular_carcinoma:neoplasm:serous_carcinoma:endometrioid_carcinoma:carcinoma   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,27 10-393 SN2-32-20140116_1000_T9_ 673 tumor 60 439628 88.01 1001 81.15 IonXpress_068 1.0E-5 654 568 86 0.13 10 - 20 <=50 Premenopausal
361 6446 HE10/00 10236 10-393   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577120 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/T   TP53 exonic missense CAT 8 p.Arg273His 818G>A c.818G>A NA   HER-positive_carcinoma:hepatocellular_carcinoma:Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour:yolk_sac_tumour:Merkel_cell_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:carcinoid-endocrine_tumour:mantle_cell_lymphoma:margi rs28934576 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 2,56 10-393 SN2-32-20140116_1000_T9_ 886 tumor 60 439628 88.01 1001 81.15 IonXpress_068 1.0E-5 790 647 143 0.18 10 - 20 <=50 Premenopausal
362 6447 HE10/00 14382 10-396 1 NO   NO NO                                                                                             >50 Postmenopausal
363 6471 HE10/00 10562 10-397   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-397 SN2-42-20140211_1000_T17_ 160 tumor 60 27087 73.02 52.83 84.82 IonXpress_022 1.0E-5 149 61 88 0.59 50 - 60 >50 Postmenopausal
364 6475 HE10/00 11062 10-401 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-401 PRO-12-20140408_1000_ 917 tumor 45 2450345 82.74 5405 81.29 IonXpress_048   830 509 321 0.39 30 - 40 <=50 Premenopausal
365 6495 HE10/00 11062 10-401   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-401 PRO-12-20140408_1000_ 9872 tumor 45 2450345 82.74 5405 81.29 IonXpress_048   1985 1031 954 0.48 40 - 50 <=50 Premenopausal
366 6496 HE10/00 11062 10-401   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-401 PRO-12-20140408_1000_ 9872 tumor 45 2450345 82.74 5405 81.29 IonXpress_048   1996 1057 939 0.47 40 - 50 <=50 Premenopausal
367 6497 HE10/00 10000 10-402 1 NO   NO NO                                                                                             >50 Postmenopausal
368 6512 HE10/00 7345 10-404 1 NO   NO NO                                                                                             >50 Postmenopausal
369 6517 HE10/00 13027 10-406 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-406 SN2-31-20140114_1000_T10_ 262 tumor 55 176462 71.13 333.3 88.48 IonXpress_073 1.0E-5 242 97 145 0.6 60 - 70 <=50 Premenopausal
370 6538 HE10/00 13027 10-406   YES TP53 YES NO other chr17 17p13.1 ex4-in4 7579358 AMPL1481773781 7579257 7579411 56.1 2 3 SNV C 1 C/G   TP53 exonic missense CCT 4 p.Arg110Pro 329G>C c.329G>C NA   HER-positive_carcinoma:leiomyosarcoma:hepatocellular_carcinoma:large_cell_carcinoma:NS:serous_carcinoma:transitiol_cell_carcinoma:adenocarcinoma:squamous_cell_carcinoma:malignt_peripheral_nerve_sheath_tumour:neoplasm:acute_lymphoblastic_T_cell_leukaem rs11540654 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,19 10-406 SN2-31-20140114_1000_T10_ 600 tumor 55 176462 71.13 333.3 88.48 IonXpress_073 1.0E-5 551 394 157 0.28 20 - 30 <=50 Premenopausal
371 6557 HE10/00 8501 10-407   YES TP53 NO YES nonMUTnonSNP chr17 17p13.1 ex6-in6 7578210 AMPL4574207192 7578114 7578273 53.5 1 1 SNV T 1 T/C 0.007 TP53 exonic synonymous CGG 6 WT 639A>G c.639A>G NA   oligodendroglioma_Grade_II:adenocarcinoma:adenoma:carcinoma rs1800372 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -0,16 10-407 PRO-27-20140729_BR05_10_rest_ 1308 tumor 35 844889 75.28 1606 53.98 IonXpress_040   1267 903 364 0.29 20 - 30 >50 Premenopausal
372 6568 HE10/00 6656 10-409   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-409 SN2-31-20140114_1000_T10_ 249 tumor 60 79330 84.06 179.5 83.72 IonXpress_074 1.0E-5 245 168 77 0.31 30 - 40 >50 Premenopausal
373 6577 HE10/00 6656 10-409   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577102 AMPL706844244 7576996 7577170 61.6 1 2 SNV C 1 C/T   TP53 exonic missense GAG 8 p.Gly279Glu 836G>A c.836G>A NA   HER-positive_carcinoma:other:oligodendroglioma:malignt_fibrous_histiocytoma-pleomorphic_sarcoma:Barrett_oesophagus:serous_carcinoma:chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma:transitiol_cell_carcinoma:ductal_carcinoma_in_situ:adenocarcin   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,39 10-409 SN2-31-20140114_1000_T10_ 110 tumor 60 79330 84.06 179.5 83.72 IonXpress_074 1.0E-5 104 56 48 0.46 40 - 50 >50 Premenopausal
374 6595 HE10/00 6651 10-411   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL392292511 178952020 178952194 36.3 3 2 SNV A 1 A/T   PIK3CA exonic missense CTT 21 p.His1047Leu 3140A>T c.3140A>T NA 957 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-411 PRO-12-20140408_1000_ 858 tumor 45 215231 80.39 458.9 79.39 IonXpress_049   418 303 115 0.28 20 - 30 >50 Premenopausal
375 6655 HE10/00 8382 10-412   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577091 AMPL706844244 7576996 7577170 61.6 1 2 SNV G 1 G/A   TP53 exonic missense TGC 8 p.Arg283Cys 847C>T c.847C>T   995 transitiol_cell_carcinoma:chronic_myeloid_leukaemia:gastrointestil_stromal_tumour:ependymoma:adenocarcinoma:adrel_cortical_carcinoma:squamous_cell_carcinoma:neoplasm:ER-PR-positive_carcinoma:carcinoma rs149633775 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,28 10-412p SN2-36-20140128_1000_T11_Te 179 tumor 70 214504 81.98 462.3 87.83 IonXpress_094 6.19E-6 170 81 89 0.52 50 - 60 >50 Postmenopausal
376 6656 HE10/00 8382 10-412   YES TP53 YES NO other chr17 17p13.1 ex8-in8 7577091 AMPL706844244 7576996 7577170 61.6 1 2 SNV G 1 G/A   TP53 exonic missense TGC 8 p.Arg283Cys 847C>T c.847C>T   995 transitiol_cell_carcinoma:chronic_myeloid_leukaemia:gastrointestil_stromal_tumour:ependymoma:adenocarcinoma:adrel_cortical_carcinoma:squamous_cell_carcinoma:neoplasm:ER-PR-positive_carcinoma:carcinoma rs149633775 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,28 10-412p SN2-31-20140114_1000_T10_ 330 tumor 70 225422 88.26 531.1 86.31 IonXpress_075 1.0E-5 314 149 165 0.53 50 - 60 >50 Postmenopausal
377 6658 HE10/00 8382 10-412   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-412p SN2-36-20140128_1000_T11_Te 222 tumor 70 174480 88.09 411.8 87.07 IonXpress_091 6.19E-6 213 11 202 0.95 90 - 100 >50 Postmenopausal
378 6659 HE10/00 8382 10-412   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-412p SN2-31-20140114_1000_T10_ 324 tumor 70 225422 88.26 531.1 86.31 IonXpress_075 1.0E-5 307 27 280 0.91 90 - 100 >50 Postmenopausal
379 6660 HE10/00 8453 10-413 1 NO   NO NO                                                                                             <=50 Premenopausal
380 6674 HE10/00 6414 10-415 1 YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-415 PRO-12-20140408_1000_ 1303 tumor 45 190540 81.79 411.5 44.4 IonXpress_051   1228 503 725 0.59 50 - 60 >50 Postmenopausal
381 6680 HE10/00 6414 10-415   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-415 PRO-12-20140408_1000_ 2034 tumor 45 190540 81.79 411.5 44.4 IonXpress_051   1953 1023 930 0.48 40 - 50 >50 Postmenopausal
382 6687 HE10/00 7802 10-417 1 NO   NO NO                                                                                             <=50 Premenopausal
383 6697 HE10/00 7113 10-418 1 NO   NO NO                                                                                             >50 Premenopausal
384 6737 HE10/00 11365 10-419   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-419 SN2-31-20140114_1000_T10_ 376 tumor 50 56087 76.24 112.7 85.57 IonXpress_076 1.0E-5 373 271 102 0.27 20 - 30 >50 Premenopausal
385 6748 HE10/00 12948 10-420 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-420 SN2-31-20140114_1000_T10_ 193 tumor 60 168151 85.12 391 86.9 IonXpress_077 1.0E-5 181 63 118 0.65 60 - 70 <=50 Premenopausal
386 6787 HE10/00 14779 10-421   YES TP53 NO YES other chr17 17p13.1 in3-ex4 7579579 AMPL6795075395 7579475 7579618 52 2 3 SNV C 1 C/T 0.012 TP53 exonic synonymous CCA 4 WT 108G>A c.108G>A NA   adenocarcinoma rs1800370 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,05 10-421 SN2-31-20140114_1000_T10_ 117 tumor 60 54339 80.09 116.8 86.26 IonXpress_078 1.0E-5 113 48 65 0.58 50 - 60 >50 Premenopausal
387 6818 HE10/00 14572 10-422   YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-422 SN2-31-20140114_1000_T10_ 187 tumor 65 211978 62.26 347.7 88.96 IonXpress_079 1.0E-5 173 68 105 0.61 60 - 70 >50 Postmenopausal
388 6820 HE10/00 14336 10-423 1 NO   NO NO                                                                                             >50 Postmenopausal
389 6831 HE10/00 13317 10-429 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-429 PRO-12-20140408_1000_ 130 tumor 40 227428 77.6 474.8 75.98 IonXpress_053   116 68 48 0.41 40 - 50 >50 Postmenopausal
390 6851 HE10/00 10602 10-432 1 NO   NO NO                                                                                             <=50 Premenopausal
391 6856 HE10/00 10324 10-436 1 NO   NO NO                                                                                             >50 Premenopausal
392 6884 HE10/00 10382 10-439   YES PIK3CA NO YES nonMUTnonSNP chr03 3q26.3 off target 115118838 AMPL6795277223 115118748 115118874 48.8 3 3 SNV T 1 T/C 0.002                 NA     rs191214851   0,44 10-439 SN2-31-20140114_1000_T10_ 1171 tumor 50 81935 81.23 176.6 51.24 IonXpress_082 1.0E-5 906 550 356 0.39 30 - 40 >50 Postmenopausal
393 6890 HE10/00 10054 10-441 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-441 PRO-12-20140408_1000_ 450 tumor 40 167279 87.46 401.3 74.11 IonXpress_054   423 287 136 0.32 30 - 40 <=50 Premenopausal
394 6905 HE10/00 10054 10-441   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936082 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAA 10 p.Glu542Lys 1624G>A c.1624G>A NA 998 HER-positive_carcinoma:liposarcoma:hepatocellular_carcinoma:intestil_adenocarcinoma:carcinosarcoma-malignt_mesodermal_mixed_tumour:undifferentiated_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:mucinous_carcinoma:dysemb rs121913273 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-441 PRO-12-20140408_1000_ 1331 tumor 40 167279 87.46 401.3 74.11 IonXpress_054   1309 1022 287 0.22 20 - 30 <=50 Premenopausal
395 6912 HE10/00 10054 10-441   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-441 PRO-12-20140408_1000_ 450 tumor 40 167279 87.46 401.3 74.11 IonXpress_054   425 292 133 0.31 30 - 40 <=50 Premenopausal
396 6913 HE10/00 10032 10-442 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-442 SN2-31-20140114_1000_T10_ 266 tumor 65 58930 87.98 140.8 51.05 IonXpress_084 1.0E-5 246 73 173 0.7 70 - 80 >50 Postmenopausal
397 6930 HE10/00 11155 10-447 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-447 SN2-31-20140114_1000_T10_ 126 tumor 55 123386 73.49 236.2 82.65 IonXpress_086 1.0E-5 120 29 91 0.76 70 - 80 >50 Postmenopausal
398 6946 HE10/00 11155 10-447   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 C/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-447 SN2-31-20140114_1000_T10_ 207 tumor 55 123386 73.49 236.2 82.65 IonXpress_086 1.0E-5 178 3 175 0.98 90 - 100 >50 Postmenopausal
399 6947 HE10/00 11155 10-447   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 A/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-447 SN2-31-20140114_1000_T10_ 207 tumor 55 123386 73.49 236.2 82.65 IonXpress_086 1.0E-5 180 2 178 0.99 90 - 100 >50 Postmenopausal
400 6965 HE10/00 10278 10-452   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-452 PRO-12-20140408_1000_ 426 tumor 40 297411 89.04 705.7 76.64 IonXpress_055   391 247 144 0.37 30 - 40 >50 Premenopausal
401 6966 HE10/00 10278 10-452   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-452 PRO-12-20140408_1000_ 426 tumor 40 297411 89.04 705.7 76.64 IonXpress_055   402 254 148 0.37 30 - 40 >50 Premenopausal
402 6967 HE10/00 11759 10-456 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-456b SN2-31-20140114_1000_T10_ 890 tumor 60 377165 72.46 713.6 88.42 IonXpress_087 1.0E-5 797 620 177 0.22 20 - 30 >50 Postmenopausal
403 6996 HE10/00 11759 10-456   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-456b SN2-31-20140114_1000_T10_ 890 tumor 60 377165 72.46 713.6 88.42 IonXpress_087 1.0E-5 816 629 187 0.23 20 - 30 >50 Postmenopausal
404 6997 HE10/00 14532 10-457 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-457T SN2-31-20140114_1000_T10_ 342 tumor 60 271994 75.71 552.3 89.95 IonXpress_088 1.0E-5 316 115 201 0.64 60 - 70 <=50 Premenopausal
405 7025 HE10/00 14532 10-457   YES TP53 YES NO other chr17 17p13.1 in5-ex6 7578275 AMPL4392179183 7578209 7578382 58.3 1 2 SNV G 1 G/A   TP53 exonic nonsense TAG 6 p.Gln192* 574C>T c.574C>T NA   HER-positive_carcinoma:other:hepatocellular_carcinoma:intestil_adenocarcinoma:adult_T_cell_lymphoma-leukaemia:Bowen_disease:myelodysplastic_syndrome:actinic_keratosis:malignt_melanoma:large_cell_carcinoma:diffuse_adenocarcinoma:endocervical_adenocarci   P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,73 10-457T SN2-31-20140114_1000_T10_ 333 tumor 60 271994 75.71 552.3 89.95 IonXpress_088 1.0E-5 309 248 61 0.2 20 - 30 <=50 Premenopausal
406 7037 HE10/00 12214 10-462   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-462T   293 tumor                     0.24 20 - 30 <=50 Premenopausal
407 7048 HE10/00 11370 10-463   YES TP53 NO YES other chr17 17p13.1 in8-ex9-in9 7576841 AMPL1516620128 7576812 7576978 50 1 2 SNV A 1 A/G 0.017 TP53 intronic             NA     rs1800899 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,12 10-463 SN2-31-20140114_1000_T10_ 126 tumor 55 45358 88.46 107.7 53.75 IonXpress_090 1.0E-5 117 30 87 0.74 70 - 80 >50 Postmenopausal
408 7051 HE10/00 10427 10-464 1 NO   NO NO                                                                                             >50 Postmenopausal
409 7072 HE10/00 14059 10-467 1 NO   NO NO                                                                                             <=50 Premenopausal
410 7078 HE10/00 7120 10-468 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-468T SN2-31-20140114_1000_T10_ 351 tumor 60 175739 68.46 315.4 67.02 IonXpress_092 1.0E-5 332 127 205 0.62 60 - 70 <=50 Premenopausal
411 7100 HE10/00 7331 10-469 1 NO   NO NO                                                                                             <=50 Postmenopausal
412 7116 HE10/00 14073 10-470 1 NO   NO NO                                                                                             >50 Postmenopausal
413 7136 HE10/00 13151 10-471 1 NO   NO NO                                                                                             <=50 Premenopausal
414 7154 HE10/00 14074 10-473 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-473 SN2-31-20140114_1000_T10_ 299 tumor 50 154372 78.63 328.8 83.18 IonXpress_094 1.0E-5 284 135 149 0.52 50 - 60 >50 Postmenopausal
415 7179 HE10/00 11234 10-477 1 NO   NO NO                                                                                             >50 Postmenopausal
416 7199 HE10/00 14737 10-478   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-478 PRO-12-20140408_1000_ 134 tumor 40 41398 84.16 93.42 74.07 IonXpress_058   131 71 60 0.46 40 - 50 >50 Postmenopausal
417 7206 HE10/00 14556 10-479 1 YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577407 AMPL3426752792 7577372 7577532 61 2 3 SNV A 1 A/C 0.163 TP53 intronic             NA     rs12951053 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif -1,68 10-479 PRO-12-20140408_1000_ 531 tumor 40 107053 85.86 244 46.88 IonXpress_059   482 262 220 0.46 40 - 50 >50 Premenopausal
418 7218 HE10/00 14556 10-479   YES PIK3CA NO YES other chr03 3q26.3 off target 115118900 AMPL6795279620 115118832 115118979 44.9 2 1 SNV C 1 C/T 0.066                 NA     rs9821873   -2,3 10-479 PRO-12-20140408_1000_ 629 tumor 40 107053 85.86 244 46.88 IonXpress_059   604 208 396 0.66 60 - 70 >50 Premenopausal
419 7224 HE10/00 14556 10-479   YES TP53 NO YES other chr17 17p13.1 ex7-in7 7577427 AMPL3426752792 7577372 7577532 61 2 3 SNV G 1 G/A 0.163 TP53 intronic             NA     rs12947788 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 0,16 10-479 PRO-12-20140408_1000_ 531 tumor 40 107053 85.86 244 46.88 IonXpress_059   492 268 224 0.46 40 - 50 >50 Premenopausal
420 7226 HE10/00 8929 10-480 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397 TP53 exonic missense CGC 4 p.Pro72Arg 215C>G c.215C>G NA   astrocytoma_Grade_IV:carcinoma rs1042522 P53 D-binding domain:P53 transactivation motif:P53 tetramerisation motif 1,36 10-480p SN2-36-20140128_1000_T11_Te 320 tumor 55 217789 69.82 403.5 83.17 IonXpress_095 6.19E-6 305 12 293 0.96 90 - 100 >50 Postmenopausal
421 7248 HE10/00 8929 10-480   YES PIK3CA YES NO other chr03 3q26.3 ex 10 178936091 AMPL393459515 178935994 178936131 38.6 3 2 SNV G 1 G/A   PIK3CA exonic missense AAG 10 p.Glu545Lys 1633G>A c.1633G>A NA 946 HER-positive_carcinoma:intestil_adenocarcinoma:Merkel_cell_carcinoma:lobular_carcinoma:endometrioid_carcinoma:carcinoid-endocrine_tumour:mucinous_carcinoma:adenoid_cystic_carcinoma:serrated_carcinoma:adenoma:sopharyngeal_carcinoma:basal_cell_carcinoma rs104886003 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,72 10-480p SN2-36-20140128_1000_T11_Te 538 tumor 55 117192 70.95 220.6 86.86 IonXpress_092 6.19E-6 532 351 181 0.34 30 - 40 >50 Postmenopausal
422 7277 HE10/00 13869 10-481   YES PIK3CA YES NO other chr03 3q26.3 ex21 178952085 AMPL1497305257 178951918 178952092 38.1 3 3 SNV A 1 A/G   PIK3CA exonic missense CGT 21 p.His1047Arg 3140A>G c.3140A>G NA 926 HER-positive_carcinoma:ductal_epithelial_hyperplasia-hyperplasia_of_usual_type:hepatocellular_carcinoma:SHH_subtype:Merkel_cell_carcinoma:lobular_carcinoma:mixed_endometrioid_and_clear_cell_carcinoma:sopharyngeal_carcinoma:endometriosis:papilloma:mixed_ rs121913279 PI3-kise family:Phosphatidylinositol 3- and 4-kise:Phosphoinositide 3-kise family:Phosphoinositide 3-kise C2 2,33 10-481 SN2-36-20140128_1000_T11_Te 356 tumor 50 163750 65.84 280.8 86.35 IonXpress_025 1.0E-5 152 111 41 0.27 20 - 30 >50 Postmenopausal
423 7283 HE10/00 14054 10-483 1 YES TP53 NO YES other chr17 17p13.1 ex4 (intraexonic) 7579472 AMPL6794971662 7579363 7579535 66.4 1 2 SNV G 1 G/C 0.397