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 ACLY 0 genome.wustl.edu 37 17 40065254 40065254 + Missense_Mutation SNP T T A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 17 40065254 40065254 T A SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.604 p.I202F 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 141 0 0.00 73 36 33.03 - - - ADAL 0 genome.wustl.edu 37 15 43641114 43641115 + Frame_Shift_Ins INS - - A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 15 43641114 43641115 - A INS ADAL ENST00000422466 human ensembl 69_37n +1 known frame_shift_ins c.643_644 p.E218fs 0.942:0.853 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 122 0 0.00 103 16 13.45 - - - AK7 0 genome.wustl.edu 37 14 96871122 96871122 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 14 96871122 96871122 G A SNP AK7 ENST00000267584 human ensembl 69_37n +1 known missense c.323 p.R108H 0.007 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 159 0 0.00 127 15 10.56 - - - ATE1 0 genome.wustl.edu 37 10 123687371 123687372 + Frame_Shift_Ins INS - - G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 10 123687371 123687372 - G INS ATE1 ENST00000224652 human ensembl 69_37n -1 known frame_shift_ins c.94_93 p.S31fs 1.000:1.000 pfam_Arg_tRNA_PTrfase_N,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 9 0 0.00 4 2 33.33 - - - C16orf47 0 genome.wustl.edu 37 16 73164976 73164976 + Missense_Mutation SNP G G T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 16 73164976 73164976 G T SNP C16orf47 ENST00000358463 human ensembl 69_37n -1 known missense c.48 p.H16Q 0.000 NULL NULL - no_errors C16orf47 HGNC ENSG00000197445 354 0 0.00 274 53 16.21 - - - CCDC37 0 genome.wustl.edu 37 3 126153123 126153123 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 3 126153123 126153123 C T SNP CCDC37 ENST00000393425 human ensembl 69_37n +1 known silent c.1530 p.I510 0.076 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 25 0 0.00 12 6 33.33 - - - CDH6 0 genome.wustl.edu 37 5 31294332 31294332 + Nonsense_Mutation SNP C C A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 5 31294332 31294332 C A SNP CDH6 ENST00000265071 human ensembl 69_37n +1 known nonsense c.492 p.Y164* 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 69 0 0.00 61 16 20.78 - - - DAAM2 0 genome.wustl.edu 37 6 39847226 39847226 + Silent SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 6 39847226 39847226 G A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known silent c.1818 p.K606 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 85 0 0.00 34 16 32.00 - - - DCLK1 0 genome.wustl.edu 37 13 36700097 36700097 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 13 36700097 36700097 G A SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known missense c.178 p.R60C 1.000 superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 77 0 0.00 44 11 20.00 - - - DLC1 0 genome.wustl.edu 37 8 13357027 13357027 + Missense_Mutation SNP T T C TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 8 13357027 13357027 T C SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.554 p.D185G 0.042 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 183 0 0.00 52 20 27.78 - - - EMR1 0 genome.wustl.edu 37 19 6919734 6919734 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 19 6919734 6919734 C T SNP EMR1 ENST00000312053 human ensembl 69_37n +1 known silent c.1596 p.I532 0.001 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 156 0 0.00 79 23 22.55 - - - IDH3A 0 genome.wustl.edu 37 15 78453949 78453949 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 15 78453949 78453949 G A SNP IDH3A ENST00000299518 human ensembl 69_37n +1 known missense c.316 p.G106S 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC ENSG00000166411 225 0 0.00 144 44 23.40 - - - IGSF8 0 genome.wustl.edu 37 1 160063723 160063723 + Silent SNP G G C TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 1 160063723 160063723 G C SNP IGSF8 ENST00000314485 human ensembl 69_37n -1 known silent c.681 p.A227 0.021 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC ENSG00000162729 48 0 0.00 52 10 15.87 - - - ITPR3 0 genome.wustl.edu 37 6 33653896 33653896 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 6 33653896 33653896 G A SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.5734 p.D1912N 1.000 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 48 0 0.00 42 12 22.22 - - - KAT6B 0 genome.wustl.edu 37 10 76788710 76788710 + Silent SNP A A G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 10 76788710 76788710 A G SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known silent c.4128 p.G1376 0.002 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 117 0 0.00 74 20 21.28 - - - KDM2A 0 genome.wustl.edu 37 11 67020978 67020978 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 11 67020978 67020978 G A SNP KDM2A ENST00000529006 human ensembl 69_37n +1 known missense c.2987 p.S996N 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 107 0 0.00 75 19 20.21 - - - KIAA1199 0 genome.wustl.edu 37 15 81221455 81221455 + Missense_Mutation SNP A A G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 15 81221455 81221455 A G SNP KIAA1199 ENST00000220244 human ensembl 69_37n +1 known missense c.2552 p.D851G 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 273 0 0.00 201 48 19.28 - - - LRP1 0 genome.wustl.edu 37 12 57602874 57602874 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 12 57602874 57602874 G A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.12154 p.V4052M 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 41 0 0.00 29 5 14.71 - - - MAP1A 0 genome.wustl.edu 37 15 43817021 43817021 + Missense_Mutation SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 15 43817021 43817021 C T SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.3350 p.A1117V 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 45 0 0.00 22 5 18.52 - - - MYO3A 0 genome.wustl.edu 37 10 26463156 26463156 + Silent SNP A A G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 10 26463156 26463156 A G SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known silent c.3963 p.E1321 0.003 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 223 0 0.00 141 52 26.94 - - - NEB 0 genome.wustl.edu 37 2 152573967 152573967 + Missense_Mutation SNP A A G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 2 152573967 152573967 A G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.785 p.I262T 0.999 pfam_Nebulin_35r-motif,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 443 0 0.00 300 86 22.28 - - - OR2G3 0 genome.wustl.edu 37 1 247769043 247769043 + Missense_Mutation SNP T T G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 1 247769043 247769043 T G SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known missense c.156 p.D52E 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 533 0 0.00 335 399 54.14 - - - PAK3 0 genome.wustl.edu 37 X 110366476 110366476 + Missense_Mutation SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d X 110366476 110366476 C T SNP PAK3 ENST00000360648 human ensembl 69_37n +1 known missense c.145 p.R49C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC ENSG00000077264 322 0 0.00 191 53 21.72 - - - PANX1 0 genome.wustl.edu 37 11 93913090 93913090 + Missense_Mutation SNP G G T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 11 93913090 93913090 G T SNP PANX1 ENST00000227638 human ensembl 69_37n +1 known missense c.868 p.V290L 0.001 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 281 0 0.00 213 53 19.92 - - - PFKL 0 genome.wustl.edu 37 21 45742920 45742920 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 21 45742920 45742920 C T SNP PFKL ENST00000403390 human ensembl 69_37n +1 known silent c.1626 p.V542 0.985 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 83 0 0.00 102 18 15.00 - - - PITPNB 0 genome.wustl.edu 37 22 28293118 28293118 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 22 28293118 28293118 C T SNP PITPNB ENST00000455418 human ensembl 69_37n -1 known silent c.303 p.T101 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC ENSG00000180957 269 0 0.00 279 63 18.42 - - - PIWIL3 0 genome.wustl.edu 37 22 25115535 25115535 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 22 25115535 25115535 C T SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known silent c.2553 p.A851 0.991 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 96 0 0.00 97 20 17.09 - - - PRAMEF11 0 genome.wustl.edu 37 1 12887489 12887489 + Missense_Mutation SNP T T C TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 1 12887489 12887489 T C SNP PRAMEF11 ENST00000535591 human ensembl 69_37n -1 known missense c.368 p.Y123C 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 188 0 0.00 138 45 24.19 - - - RAB43 0 genome.wustl.edu 37 3 128810076 128810076 + Missense_Mutation SNP T T C TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 3 128810076 128810076 T C SNP RAB43 ENST00000315150 human ensembl 69_37n -1 known missense c.502 p.N168D 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB43 HGNC ENSG00000172780 17 0 0.00 6 8 57.14 - - - RAP1GAP 0 genome.wustl.edu 37 1 21924472 21924472 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 1 21924472 21924472 C T SNP RAP1GAP ENST00000290101 human ensembl 69_37n -1 known silent c.2157 p.E719 0.995 NULL pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC ENSG00000076864 28 0 0.00 15 6 28.57 - - - REV3L 0 genome.wustl.edu 37 6 111688818 111688818 + Missense_Mutation SNP C C A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 6 111688818 111688818 C A SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.6173 p.C2058F 0.118 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 347 0 0.00 194 69 26.24 - - - SASH1 0 genome.wustl.edu 37 6 148852768 148852768 + Missense_Mutation SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 6 148852768 148852768 G A SNP SASH1 ENST00000367467 human ensembl 69_37n +1 known missense c.1535 p.R512H 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 140 0 0.00 78 15 16.13 - - - SLC7A7 0 genome.wustl.edu 37 14 23245482 23245482 + Silent SNP G G A TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 14 23245482 23245482 G A SNP SLC7A7 ENST00000285850 human ensembl 69_37n -1 known silent c.816 p.I272 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 197 0 0.00 106 19 15.20 - - - SMARCD3 0 genome.wustl.edu 37 7 150937202 150937202 + Missense_Mutation SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 7 150937202 150937202 C T SNP SMARCD3 ENST00000262188 human ensembl 69_37n -1 known missense c.1169 p.S390N 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 179 0 0.00 91 33 26.61 - - - TLE6 0 genome.wustl.edu 37 19 2987728 2987728 + Nonsense_Mutation SNP G G T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 19 2987728 2987728 G T SNP TLE6 ENST00000246112 human ensembl 69_37n +1 known nonsense c.565 p.E189* 0.234 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 67 0 0.00 25 11 30.56 - - - TP53 0 genome.wustl.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 17 7578534 7578534 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.396 p.K132N 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 125 0 0.00 47 49 51.04 - - - TRAPPC2 0 genome.wustl.edu 37 X 13734634 13734634 + Missense_Mutation SNP A A G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d X 13734634 13734634 A G SNP TRAPPC2 ENST00000453655 human ensembl 69_37n -1 known missense c.257 p.V86A 0.001 pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2 HGNC ENSG00000196459 190 0 0.00 144 29 16.76 - - - TRPV2 0 genome.wustl.edu 37 17 16330833 16330833 + Missense_Mutation SNP T T G TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 17 16330833 16330833 T G SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known missense c.1322 p.L441R 0.990 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 46 0 0.00 18 13 40.62 - - - TUBAL3 0 genome.wustl.edu 37 10 5435789 5435789 + Silent SNP C C T TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 10 5435789 5435789 C T SNP TUBAL3 ENST00000380419 human ensembl 69_37n -1 known silent c.1032 p.S344 0.660 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 88 0 0.00 49 16 24.62 - - - ZNF577 0 genome.wustl.edu 37 19 52376691 52376691 + Silent SNP T T C TCGA-E2-A1B0-01A-11D-A12Q-09 TCGA-E2-A1B0-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 14e3b00c-cbec-4733-8fa4-829b8e7d9808 ce4b0897-884b-4483-b105-7677ddcb341d 19 52376691 52376691 T C SNP ZNF577 ENST00000301399 human ensembl 69_37n -1 known silent c.552 p.K184 0.519 pfscan_Znf_C2H2 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 ZNF577 HGNC ENSG00000161551 199 0 0.00 149 33 18.13 - - -