Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ASXL1 0 genome.wustl.edu 37 20 31023102 31023102 + Missense_Mutation SNP G G C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 20 31023102 31023102 G C SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known missense c.2587 p.D863H 0.035 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 178 0 0.00 486 70 12.57 - - - ASXL1 0 genome.wustl.edu 37 20 31023531 31023531 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 20 31023531 31023531 G A SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known missense c.3016 p.E1006K 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 92 0 0.00 221 37 14.34 - - - ASXL1 0 genome.wustl.edu 37 20 31024108 31024108 + Missense_Mutation SNP G G T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 20 31024108 31024108 G T SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known missense c.3593 p.G1198V 0.056 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 92 0 0.00 145 20 12.12 - - - CC2D1B 0 genome.wustl.edu 37 1 52824769 52824769 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 1 52824769 52824769 C T SNP CC2D1B ENST00000371586 human ensembl 69_37n -1 known missense c.1187 p.R396H 0.248 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 28 0 0.00 50 8 13.79 - - - CYP26B1 0 genome.wustl.edu 37 2 72371201 72371201 + Nonsense_Mutation SNP C C A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 2 72371201 72371201 C A SNP CYP26B1 ENST00000001146 human ensembl 69_37n -1 known nonsense c.346 p.E116* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 16 0 0.00 7 7 50.00 - - - ECM1 0 genome.wustl.edu 37 1 150485271 150485271 + Missense_Mutation SNP T T C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 1 150485271 150485271 T C SNP ECM1 ENST00000369049 human ensembl 69_37n +1 known missense c.1456 p.C486R 1.000 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 160 0 0.00 269 81 23.14 - - - GYS1 0 genome.wustl.edu 37 19 49489210 49489210 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 19 49489210 49489210 C T SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known missense c.575 p.R192H 0.994 pfam_Glycogen_synth,pfam_Starch_synth_cat_dom pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 30 0 0.00 28 15 34.88 - - - IQGAP1 0 genome.wustl.edu 37 15 91019954 91019954 + Missense_Mutation SNP G G T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 15 91019954 91019954 G T SNP IQGAP1 ENST00000268182 human ensembl 69_37n +1 known missense c.2844 p.M948I 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 282 0 0.00 93 139 59.91 - - - KANK4 0 genome.wustl.edu 37 1 62740107 62740107 + Silent SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 1 62740107 62740107 C T SNP KANK4 ENST00000371153 human ensembl 69_37n -1 known silent c.669 p.R223 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 37 0 0.00 45 13 22.41 - - - KANSL3 0 genome.wustl.edu 37 2 97278595 97278595 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 2 97278595 97278595 C T SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known missense c.872 p.R291H 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 19 0 0.00 21 8 27.59 - - - KIAA0895 0 genome.wustl.edu 37 7 36366445 36366445 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 7 36366445 36366445 C T SNP KIAA0895 ENST00000297063 human ensembl 69_37n -1 known missense c.1487 p.G496D 0.003 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 151 0 0.00 153 51 25.00 - - - LPA 0 genome.wustl.edu 37 6 161022000 161022000 + Missense_Mutation SNP C C G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 6 161022000 161022000 C G SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.3076 p.V1026L 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 224 0 0.00 171 69 28.75 - - - LRIG2 0 genome.wustl.edu 37 1 113616247 113616248 + Frame_Shift_Ins INS - - C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 1 113616247 113616248 - C INS LRIG2 ENST00000361127 human ensembl 69_37n +1 known frame_shift_ins c.219_220 p.D75fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 21 0 0.00 29 4 12.12 - - - MLL2 0 genome.wustl.edu 37 12 49436351 49436351 + Missense_Mutation SNP C C G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 12 49436351 49436351 C G SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.5860 p.D1954H 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 57 0 0.00 80 26 24.53 - - - MYH14 0 genome.wustl.edu 37 19 50750310 50750310 + Silent SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 19 50750310 50750310 C T SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known silent c.1260 p.S420 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 13 0 0.00 11 12 52.17 - - - MYO5B 0 genome.wustl.edu 37 18 47463624 47463624 + Silent SNP A A G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 18 47463624 47463624 A G SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known silent c.1896 p.V632 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 191 0 0.00 231 59 20.27 - - - NBPF10 0 genome.wustl.edu 37 1 145319647 145319647 + Missense_Mutation SNP T T C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 1 145319647 145319647 T C SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.2834 p.V945A 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 37 0 0.00 45 5 10.00 - - - NEDD4L 0 genome.wustl.edu 37 18 56010162 56010162 + Missense_Mutation SNP C C G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 18 56010162 56010162 C G SNP NEDD4L ENST00000400345 human ensembl 69_37n +1 known missense c.1402 p.R468G 0.997 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 127 0 0.00 123 28 18.54 - - - NOTCH3 0 genome.wustl.edu 37 19 15271757 15271758 + Frame_Shift_Del DEL TG TG - TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 19 15271757 15271758 TG - DEL NOTCH3 ENST00000263388 human ensembl 69_37n -1 known frame_shift_del c.6682_6681 p.H2227fs 0.005:0.002 pfam_DUF3454_notch,pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 14 0 0.00 11 4 26.67 - - - NOTCH4 0 genome.wustl.edu 37 6 32180644 32180644 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 6 32180644 32180644 G A SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.2483 p.P828L 0.936 pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 22 0 0.00 22 19 46.34 - - - PSMA7 0 genome.wustl.edu 37 20 60714888 60714888 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 20 60714888 60714888 C T SNP PSMA7 ENST00000442551 human ensembl 69_37n -1 known missense c.74 p.R25K 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMA7 HGNC ENSG00000101182 13 0 0.00 20 10 33.33 - - - RABGAP1 0 genome.wustl.edu 37 9 125863868 125863868 + Silent SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 9 125863868 125863868 G A SNP RABGAP1 ENST00000373647 human ensembl 69_37n +1 known silent c.2913 p.R971 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 78 0 0.00 67 14 17.28 - - - RBM15B 0 genome.wustl.edu 37 3 51431352 51431353 + Frame_Shift_Ins INS - - G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 3 51431352 51431353 - G INS RBM15B ENST00000323686 human ensembl 69_37n +1 novel frame_shift_ins c.2522_2523 p.S844fs 1.000:1.000 pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 40 0 0.00 26 3 10.34 - - - REXO2 0 genome.wustl.edu 37 11 114320615 114320615 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 11 114320615 114320615 G A SNP REXO2 ENST00000265881 human ensembl 69_37n +1 known missense c.632 p.R211Q 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC ENSG00000076043 207 0 0.00 197 86 30.39 - - - RNF213 0 genome.wustl.edu 37 17 78321232 78321232 + Missense_Mutation SNP G G C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 17 78321232 78321232 G C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.9097 p.E3033Q 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 43 0 0.00 26 32 55.17 - - - RYR1 0 genome.wustl.edu 37 19 39018962 39018962 + Missense_Mutation SNP A A G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 19 39018962 39018962 A G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.10841 p.K3614R 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 46 0 0.00 37 23 38.33 - - - SCAMP2 0 genome.wustl.edu 37 15 75146427 75146427 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 15 75146427 75146427 G A SNP SCAMP2 ENST00000268099 human ensembl 69_37n -1 known missense c.160 p.L54F 0.334 NULL pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 14 0 0.00 13 12 48.00 - - - SGCD 0 genome.wustl.edu 37 5 156074477 156074477 + Missense_Mutation SNP C C T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 5 156074477 156074477 C T SNP SGCD ENST00000337851 human ensembl 69_37n +1 known missense c.506 p.A169V 0.999 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 14 0 0.00 15 7 31.82 - - - SIPA1 0 genome.wustl.edu 37 11 65413699 65413701 + In_Frame_Del DEL GGA GGA - TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 11 65413699 65413701 GGA - DEL SIPA1 ENST00000394224 human ensembl 69_37n +1 known in_frame_del c.1271_1273 p.RK424in_frame_delQ 1.000:1.000:1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC ENSG00000213445 68 0 0.00 67 30 29.70 - - - SLC22A14 0 genome.wustl.edu 37 3 38348770 38348771 + Frame_Shift_Del DEL CG CG - TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 3 38348770 38348771 CG - DEL SLC22A14 ENST00000273173 human ensembl 69_37n +1 known frame_shift_del c.542_543 p.T181fs 0.000:0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 54 0 0.00 48 7 12.73 - - - TAS2R43 0 genome.wustl.edu 37 12 11244488 11244488 + Missense_Mutation SNP G G C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 12 11244488 11244488 G C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known missense c.341 p.S114C 0.139 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 337 0 0.00 601 216 26.37 - - - TMPRSS15 0 genome.wustl.edu 37 21 19666646 19666646 + Silent SNP G G C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 21 19666646 19666646 G C SNP TMPRSS15 ENST00000284885 human ensembl 69_37n -1 known silent c.2427 p.L809 0.102 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 80 0 0.00 68 36 34.62 - - - TP53 0 genome.wustl.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 17 7577106 7577106 G T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.832 p.P278T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 55 0 0.00 40 39 49.37 - - - USP12 0 genome.wustl.edu 37 13 27679970 27679970 + Missense_Mutation SNP G G T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 13 27679970 27679970 G T SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.241 p.L81I 0.998 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 138 0 0.00 233 57 19.66 - - - USP36 0 genome.wustl.edu 37 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 17 76799860 76799861 - G INS USP36 ENST00000312010 human ensembl 69_37n -1 known frame_shift_ins c.2417_2416 p.Q806fs 0.000:0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 14 0 0.00 29 5 14.71 - - - WWC3 0 genome.wustl.edu 37 X 10102551 10102551 + Frame_Shift_Del DEL C C - TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a X 10102551 10102551 C - DEL WWC3 ENST00000380861 human ensembl 69_37n +1 known frame_shift_del c.2678 p.R894fs 0.075 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 176 0 0.00 109 71 36.41 - - - XKR4 0 genome.wustl.edu 37 8 56435863 56435863 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 8 56435863 56435863 G A SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known missense c.1030 p.V344M 0.999 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 86 0 0.00 119 45 27.44 - - - ZFPM2 0 genome.wustl.edu 37 8 106814408 106814408 + Missense_Mutation SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 8 106814408 106814408 G A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.2098 p.E700K 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 88 0 0.00 91 33 26.61 - - - ZNF655 0 genome.wustl.edu 37 7 99158245 99158245 + Silent SNP G G A TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c57595bb-7953-4611-b0d1-3c2c40feb3b9 02613b8d-b01c-401a-a0be-71f258dea92a 7 99158245 99158245 G A SNP ZNF655 ENST00000424881 human ensembl 69_37n +1 known silent c.63 p.E21 0.315 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 52 0 0.00 67 33 33.00 - - -