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 ALAS2 0 genome.wustl.edu 37 X 55042138 55042138 + Silent SNP G G T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 X 55042138 55042138 G T SNP ALAS2 ENST00000330807 human ensembl 69_37n -1 known silent c.1041 p.S347 0.990 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 97 0 0.00 84 35 29.41 - - - ASMTL 0 genome.wustl.edu 37 X 1522276 1522276 + Silent SNP C C T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 X 1522276 1522276 C T SNP ASMTL ENST00000381317 human ensembl 69_37n -1 known silent c.1752 p.E584 0.991 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 93 0 0.00 67 37 35.58 - - - CALM2 0 genome.wustl.edu 37 2 47403600 47403600 + Missense_Mutation SNP T T A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 2 47403600 47403600 T A SNP CALM2 ENST00000456319 human ensembl 69_37n -1 putative missense c.51 p.K17N 0.994 NULL pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_start_codon CALM2 HGNC ENSG00000143933 70 0 0.00 41 28 40.58 - - - CDH6 0 genome.wustl.edu 37 5 31294263 31294263 + Silent SNP C C T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 5 31294263 31294263 C T SNP CDH6 ENST00000265071 human ensembl 69_37n +1 known silent c.423 p.P141 0.039 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 60 0 0.00 53 41 43.62 - - - FBN3 0 genome.wustl.edu 37 19 8191626 8191626 + Missense_Mutation SNP C C T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 19 8191626 8191626 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.2387 p.R796Q 0.996 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 32 0 0.00 21 15 41.67 - - - FRG1B 0 genome.wustl.edu 37 20 29632643 29632643 + Missense_Mutation SNP T T C TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 20 29632643 29632643 T C SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.458 p.L153P 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 29 0 0.00 61 10 14.08 - - - FRMPD4 0 genome.wustl.edu 37 X 12722503 12722503 + Missense_Mutation SNP C C A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 X 12722503 12722503 C A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.1096 p.L366I 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 138 0 0.00 102 68 40.00 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 110 0 0 106 34 24.11 - - - GOLGA8J 0 genome.wustl.edu 37 15 30382467 30382467 + Missense_Mutation SNP A A G TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 15 30382467 30382467 A G SNP GOLGA8J ENST00000341650 human ensembl 69_37n +1 known missense c.623 p.Q208R 0.998 NULL NULL - no_errors GOLGA8J HGNC ENSG00000179938 42 0 0.00 49 23 31.94 - - - GPRIN2 0 genome.wustl.edu 37 10 46998995 46998995 + Missense_Mutation SNP C C G TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 10 46998995 46998995 C G SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.115 p.L39V 0.989 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 13 0 0.00 12 6 33.33 - - - ITGB3 0 genome.wustl.edu 37 17 45367609 45367609 + Missense_Mutation SNP A A G TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 17 45367609 45367609 A G SNP ITGB3 ENST00000262017 human ensembl 69_37n +1 known missense c.1094 p.N365S 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 341 0 0.00 237 135 36.29 - - - LCP1 0 genome.wustl.edu 37 13 46732779 46732779 + Missense_Mutation SNP T T C TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 13 46732779 46732779 T C SNP LCP1 ENST00000323076 human ensembl 69_37n -1 known missense c.236 p.H79R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors LCP1 HGNC ENSG00000136167 168 0 0.00 157 76 32.62 - - - LRP2 0 genome.wustl.edu 37 2 170135997 170135997 + Missense_Mutation SNP C C A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 2 170135997 170135997 C A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.1450 p.V484L 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 80 0 0.00 75 37 33.04 - - - MYO18A 0 genome.wustl.edu 37 17 27445423 27445423 + Missense_Mutation SNP T T C TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 17 27445423 27445423 T C SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.1865 p.N622S 0.999 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 142 0 0.00 113 42 27.10 - - - MYPN 0 genome.wustl.edu 37 10 69961611 69961611 + Silent SNP G G T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 10 69961611 69961611 G T SNP MYPN ENST00000358913 human ensembl 69_37n +1 known silent c.3519 p.V1173 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 36 0 0.00 42 23 35.38 - - - NOTCH2 0 genome.wustl.edu 37 1 120465265 120465265 + Missense_Mutation SNP C C A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 1 120465265 120465265 C A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.4996 p.V1666F 0.999 pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_2 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 117 0 0.00 87 51 36.96 - - - PCDH19 0 genome.wustl.edu 37 X 99663130 99663130 + Missense_Mutation SNP G G C TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 X 99663130 99663130 G C SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.466 p.P156A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 85 0 0.00 45 24 34.29 - - - PHF20 0 genome.wustl.edu 37 20 34519315 34519315 + Missense_Mutation SNP A A T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 20 34519315 34519315 A T SNP PHF20 ENST00000374012 human ensembl 69_37n +1 known missense c.2249 p.Q750L 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 96 0 0.00 69 29 29.59 - - - SEH1L 0 genome.wustl.edu 37 18 12971157 12971157 + Missense_Mutation SNP G G A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 18 12971157 12971157 G A SNP SEH1L ENST00000399892 human ensembl 69_37n +1 known missense c.527 p.R176H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEH1L HGNC ENSG00000085415 131 0 0.00 117 70 37.43 - - - SH3D19 0 genome.wustl.edu 37 4 152096472 152096472 + Missense_Mutation SNP G G T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 4 152096472 152096472 G T SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known missense c.44 p.S15Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 119 1 0.83 99 55 35.71 - - - STAT4 0 genome.wustl.edu 37 2 191922752 191922752 + Nonsense_Mutation SNP G G A TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 2 191922752 191922752 G A SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known nonsense c.1198 p.R400* 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 73 0 0.00 98 37 27.21 - - - ZNF804B 0 genome.wustl.edu 37 7 88964843 88964843 + Silent SNP T T C TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 264fb6ef-65be-48fd-8216-6c493b620ad8 daa07354-8687-4350-9d9c-d95db1a71517 7 88964843 88964843 T C SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known silent c.2547 p.T849 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 29 0 0.00 24 7 22.58 - - -