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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val TTN 0 genome.wustl.edu 37 2 179584492 179584492 + Missense_Mutation SNP C C A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 2 179584492 179584492 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19995 p.E6665D 0.097 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom 0 no_errors 0 0 0 16 0 0 9 14 60.87 323 0 0.00 91 101 52.60 SCN5A 0 genome.wustl.edu 37 3 38622694 38622694 + Missense_Mutation SNP G G A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 3 38622694 38622694 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.2956 p.R986W 0.262 pfam_Na_trans_assoc,prints_Na_channel_a5su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu 0 no_errors rs561547165 G->A 0.9996,0.0003994 47 0 0 14 19 57.58 23 0 0.00 6 7 53.85 RHOA 0 genome.wustl.edu 37 3 49400049 49400049 + Missense_Mutation SNP T T G TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 3 49400049 49400049 T G SNP RHOA ENST00000454011 human ensembl 74_37 -1 putative missense c.167 p.Q56P 1 smart_Small_GTPase_Rho pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom 0 no_errors 0 0 0 104 0 0 34 28 44.44 287 0 0.00 111 69 38.33 HIST1H3F 0 genome.wustl.edu 37 6 26250543 26250543 + Silent SNP G G A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 6 26250543 26250543 G A SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known silent c.291 p.C97 1 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 0 no_errors 0 0 0 110 0 0 37 39 51.32 73 0 0.00 15 11 42.31 NOTCH4 0 genome.wustl.edu 37 6 32185850 32185850 + Missense_Mutation SNP C C G TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 6 32185850 32185850 C G SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1546 p.E516Q 1 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom 0 no_errors 0 0 0 56 0 0 20 11 35.48 116 0 0.00 25 23 47.92 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 312 0 0 271 204 42.86 142 1 0.69 52 40 43.48 NEFM 0 genome.wustl.edu 37 8 24774812 24774812 + Missense_Mutation SNP G G T TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 8 24774812 24774812 G T SNP NEFM ENST00000221166 human ensembl 74_37 1 known missense c.1444 p.V482F 0.001 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I 0 no_errors 0 0 0 30 0 0 51 36 41.38 136 0 0.00 75 40 34.78 FER1L6 0 genome.wustl.edu 37 8 125107171 125107171 + Silent SNP C C A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 8 125107171 125107171 C A SNP FER1L6 ENST00000399018 human ensembl 74_37 1 known silent c.4587 p.L1529 1 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom 0 no_errors 0 0 0 53 0 0 23 22 48.89 191 0 0.00 49 56 53.33 HRAS 0 genome.wustl.edu 37 11 533877 533877 + Missense_Mutation SNP C C A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 11 533877 533877 C A SNP HRAS ENST00000311189 human ensembl 74_37 -1 known missense c.179 p.G60V 1 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom 0 no_errors 0 0 0 40 0 0 12 20 60.61 219 0 0.00 54 67 55.37 TRPM5 0 genome.wustl.edu 37 11 2443403 2443403 + Missense_Mutation SNP C C T TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 11 2443403 2443403 C T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.266 p.R89H 0.999 NULL superfamily_Ankyrin_rpt-contain_dom 0 no_errors 0 0 0 42 0 0 14 11 44 66 0 0.00 18 12 40.00 COLCA2 0 genome.wustl.edu 37 11 111179016 111179016 + Missense_Mutation SNP G G A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 11 111179016 111179016 G A SNP COLCA2 ENST00000398035 human ensembl 74_37 1 known missense c.319 p.A107T 0.025 NULL NULL 0 no_errors 0 0 0 22 0 0 15 9 37.5 102 0 0.00 31 18 36.00 RNF6 0 genome.wustl.edu 37 13 26789705 26789705 + Missense_Mutation SNP G G A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 13 26789705 26789705 G A SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.314 p.S105L 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 49 0 0 26 15 36.59 231 1 0.43 50 54 51.92 JPH3 0 genome.wustl.edu 37 16 87723875 87723875 + Missense_Mutation SNP C C T TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 16 87723875 87723875 C T SNP JPH3 ENST00000284262 human ensembl 74_37 1 known missense c.1909 p.R637W 1 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN 0 no_errors 0 0 0 74 0 0 36 30 45.45 81 0 0.00 24 11 31.43 WDR18 0 genome.wustl.edu 37 19 991253 991253 + Missense_Mutation SNP C C G TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 19 991253 991253 C G SNP WDR18 ENST00000251289 human ensembl 74_37 1 known missense c.833 p.S278C 1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 0 no_errors 0 0 0 22 0 0 13 11 45.83 50 0 0.00 4 5 55.56 PPP2R1A 0 genome.wustl.edu 37 19 52716021 52716021 + Missense_Mutation SNP C C G TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 19 52716021 52716021 C G SNP PPP2R1A ENST00000322088 human ensembl 74_37 1 known missense c.586 p.L196V 1 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 0 no_errors 0 0 0 86 0 0 32 40 55.56 233 0 0.00 61 64 51.20 KIAA0754 0 genome.wustl.edu 37 1 39878977 39878977 + Missense_Mutation SNP A A G TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 1 39878977 39878977 A G SNP KIAA0754 ENST00000530275 human ensembl 74_37 1 known missense c.2632 p.T878A 0 NULL NULL 0 no_errors rs783821 A->G 0 51 1 1.89 28 6 17.14 16 0 0.00 2 0 0.00 UNC93B1 0 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt 0 no_errors rs4014596 C->T 0 28 0 0 37 4 9.76 0 0 0.00 0 0 0.00 HMGN2P46 0 genome.wustl.edu 37 15 45848140 45848140 + RNA SNP G G A TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 15 45848140 45848140 G A SNP HMGN2P46 ENST00000313559 human ensembl 74_37 1 known rna NULL NULL 0.996 0 0 0 no_errors 0 0 0 39 0 0 41 4 8.89 3 0 0.00 1 0 0.00 PLA2R1 0 genome.wustl.edu 37 2 160918876 160918878 + In_Frame_Del DEL CAG CAG - TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 2 160918876 160918878 CAG 0 DEL PLA2R1 ENST00000283243 human ensembl 74_37 -1 known in_frame_del c.39_37 p.L13in_frame_del 0.922:0.939:0.961 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin 0 no_errors 0 0 0 58 1 1.69 34 4 10.53 12 0 0.00 4 0 0.00 ENSG00000221523 0 genome.wustl.edu 37 4 185188532 185188533 + RNA INS - - TG TCGA-XM-A8RG-01A-11D-A423-09 TCGA-XM-A8RG-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f281927-08c2-4579-a8ef-630529c92327 3e29f8d1-3f76-4aba-9614-c0c92ad67840 4 185188532 185188533 0 TG INS ENSG00000221523 ENST00000408596 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.012 0 0 0 no_errors 0 0 0 31 0 0 19 2 9.52 0 0 0.00 0 0 0.00