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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TRPC7 0 genome.wustl.edu 37 5 135692363 135692363 + Missense_Mutation SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 5 135692363 135692363 G T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.713 p.P238H 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 23 0 0.00 21 4 16.00 TMEM132E 0 genome.wustl.edu 37 17 32957125 32957125 + Silent SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 17 32957125 32957125 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known silent c.1167 p.I389 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 39 0 0.00 35 4 10.26 CHDH 0 genome.wustl.edu 37 3 53857394 53857394 + Silent SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 3 53857394 53857394 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.642 p.T214 0.043 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 66 0 0.00 1 66 98.51 PDSS2 0 genome.wustl.edu 37 6 107475958 107475958 + Silent SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 6 107475958 107475958 G A SNP PDSS2 ENST00000369037 human ensembl 74_37 -1 known silent c.1065 p.G355 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 tier1 - - 64 0 0.00 5 35 87.50 MCF2 0 genome.wustl.edu 37 X 138774264 138774264 + Silent SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa X 138774264 138774264 C T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known silent c.21 p.S7 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 48 0 0.00 4 17 80.95 KMT2C 0 genome.wustl.edu 37 7 151962269 151962269 + Silent SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 7 151962269 151962269 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.1038 p.V346 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 136 1 0.73 108 13 10.74 SCN2A 0 genome.wustl.edu 37 2 166152401 166152401 + Missense_Mutation SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 2 166152401 166152401 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.68 p.A23V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 46 0 0.00 37 4 9.76 TGFBRAP1 0 genome.wustl.edu 37 2 105886143 105886143 + Silent SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 2 105886143 105886143 G A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.1992 p.G664 0.540 pfam_Clathrin_H-chain/VPS_repeat pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 41 0 0.00 20 4 16.67 GRP 0 genome.wustl.edu 37 18 56892844 56892844 + Missense_Mutation SNP T T C TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 18 56892844 56892844 T C SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.260 p.L87P 0.088 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 tier1 - - 57 0 0.00 2 45 95.74 SLC24A1 0 genome.wustl.edu 37 15 65943029 65943029 + Missense_Mutation SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 15 65943029 65943029 G T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.2542 p.V848L 0.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 tier1 - - 94 0 0.00 33 4 10.81 ZMYND11 0 genome.wustl.edu 37 10 226039 226039 + Missense_Mutation SNP G G C TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 10 226039 226039 G C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.87 p.K29N 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 tier1 - - 122 0 0.00 8 56 87.50 FCRL5 0 genome.wustl.edu 37 1 157490262 157490262 + Missense_Mutation SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 1 157490262 157490262 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2591 p.A864V 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 16 0 0.00 12 4 25.00 ZNF610 0 genome.wustl.edu 37 19 52857573 52857573 + Missense_Mutation SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 19 52857573 52857573 G A SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.260 p.S87N 0.002 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 tier1 - - 62 0 0.00 37 4 9.76 CAC1H 0 genome.wustl.edu 37 16 1256105 1256105 + Missense_Mutation SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 16 1256105 1256105 G A SNP CAC1H ENST00000348261 human ensembl 74_37 +1 known missense c.2605 p.V869I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CAC1H HGNC ENSG00000196557 tier1 - - 32 0 0.00 0 32 100.00 NTNG2 0 genome.wustl.edu 37 9 135116314 135116314 + Missense_Mutation SNP A A G TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 9 135116314 135116314 A G SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.1258 p.I420V 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 tier1 - - 42 0 0.00 0 55 100.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651210 1651239 + In_Frame_Del DEL GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG - TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 11 1651210 1651239 GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known in_frame_del c.140_169 p.GCAGCGGCGS51in_frame_del 0.818:0.967:0.993:0.997:0.997:0.999:1.000:0.998:0.998:0.991:0.983:0.976:1.000:1.000:0.999:0.995:0.061:0.083:0.113:0.325:0.996:0.999:1.000:1.000:0.999:0.994:0.996:0.995:0.546:0.579 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 IL8 0 genome.wustl.edu 37 4 74607335 74607356 + Frame_Shift_Del DEL ATTTATCAAAGAACTGAGAGTG ATTTATCAAAGAACTGAGAGTG - TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 ATTTATCAAAGAACTGAGAGTG ATTTATCAAAGAACTGAGAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 4 74607335 74607356 ATTTATCAAAGAACTGAGAGTG - DEL IL8 ENST00000307407 human ensembl 74_37 +1 known frame_shift_del c.141_162 p.F48fs 0.497:0.041:0.001:0.007:0.844:0.926:0.923:0.931:0.978:0.993:0.998:0.998:0.984:0.984:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors IL8 HGNC ENSG00000169429 tier1 CXADRP3 0 genome.wustl.edu 37 18 14478302 14478302 + R SNP T T A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 18 14478302 14478302 T A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 60 0 0.00 0 50 100.00 IGSF3 0 genome.wustl.edu 37 1 117142613 117142613 + Missense_Mutation SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 1 117142613 117142613 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.2039 p.R680Q 0.716 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 rs76151115 - 45 0 0.00 50 15 23.08 EHD2 0 genome.wustl.edu 37 19 48220051 48220051 + Missense_Mutation SNP T T G TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 19 48220051 48220051 T G SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.182 p.V61G 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 tier1 - - 83 0 0.00 6 69 92.00 NPSR1-AS1 0 genome.wustl.edu 37 7 34800738 34800738 + R SNP T T G TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 7 34800738 34800738 T G SNP NPSR1-AS1 ENST00000419766 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NPSR1-AS1 HGNC ENSG00000197085 tier1 - - 92 0 0.00 27 45 62.50 TNXB 0 genome.wustl.edu 37 6 32064925 32064925 + Silent SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 6 32064925 32064925 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.705 p.C235 0.052 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 40 0 0.00 27 4 12.90 TP53 0 genome.wustl.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 17 7577105 7577105 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.833 p.P278H 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 29 0 0.00 1 37 97.37 TAS2R64P 0 genome.wustl.edu 37 12 11230465 11230465 + R SNP C C T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 12 11230465 11230465 C T SNP TAS2R64P ENST00000534866 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TAS2R64P HGNC ENSG00000256274 tier1 rs78048403 - 72 0 0.00 34 9 20.93 ENSG00000188971 0 genome.wustl.edu 37 2 69688632 69688632 + R DEL A A - TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 2 69688632 69688632 A - DEL ENSG00000188971 ENST00000339092 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-427H3.3 Clone_based_vega_gene ENSG00000188971 tier1 14 0 0.00 11 2 15.38 FAT3 0 genome.wustl.edu 37 11 92615944 92615944 + Nonsense_Mutation SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 11 92615944 92615944 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.12322 p.E4108* 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 35 0 0.00 41 4 8.89 NF1 0 genome.wustl.edu 37 17 29527470 29527471 + Frame_Shift_Ins INS - - T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 17 29527470 29527471 - T INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.919_920 p.A308fs 0.968:0.970 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 120 0 0.00 11 63 85.14 DH3 0 genome.wustl.edu 37 16 21049179 21049179 + Silent SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 16 21049179 21049179 G T SNP DH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4854 p.L1618 0.990 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 65 0 0.00 44 4 8.33 WDFY4 0 genome.wustl.edu 37 10 49984994 49984994 + Silent SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 10 49984994 49984994 G T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.3063 p.S1021 0.003 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 53 0 0.00 45 4 8.16 MYO15A 0 genome.wustl.edu 37 17 18023246 18023246 + Missense_Mutation SNP G G A TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 17 18023246 18023246 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1132 p.V378I 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 83 0 0.00 50 8 13.79 EED 0 genome.wustl.edu 37 11 85977214 85977214 + Frame_Shift_Del DEL T T - TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 11 85977214 85977214 T - DEL EED ENST00000263360 human ensembl 74_37 +1 known frame_shift_del c.816 p.N272fs 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 tier1 152 0 0.00 15 88 85.44 TSC22D1 0 genome.wustl.edu 37 13 45008959 45008959 + Missense_Mutation SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 13 45008959 45008959 G T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.3025 p.Q1009K 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 tier1 - - 49 0 0.00 41 4 8.89 NBPF14 0 genome.wustl.edu 37 1 148023129 148023129 + Missense_Mutation SNP C C G TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 1 148023129 148023129 C G SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.363 p.E121D 0.924 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 tier1 rs202128472 - 22 0 0.00 6 4 40.00 LINC00943 0 genome.wustl.edu 37 12 127229808 127229809 + R INS - - T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 12 127229808 127229809 - T INS LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.004 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 30 0 0.00 20 3 13.04 RNF215 0 genome.wustl.edu 37 22 30783220 30783221 + In_Frame_Ins INS - - GCAGCAGCA TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 22 30783220 30783221 - GCAGCAGCA INS RNF215 ENST00000382363 human ensembl 74_37 -1 known in_frame_ins c.83_82 p.28in_frame_insLLL 0.968:0.994 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF215 HGNC ENSG00000099999 tier1 HUNK 0 genome.wustl.edu 37 21 33371479 33371479 + Silent SNP G G T TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 21 33371479 33371479 G T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known silent c.2127 p.G709 0.048 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 62 0 0.00 7 52 86.67 ADAM21P1 0 genome.wustl.edu 37 14 70714300 70714300 + R SNP A A G TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f4dc9363-c6af-4262-99fd-ad58bf716936 c3be8a1b-e675-4781-b908-2ca544764caa 14 70714300 70714300 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 rs112607032 - 33 0 0.00 35 4 10.26