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 ABL2 0 genome.wustl.edu 37 1 179078567 179078567 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 1 179078567 179078567 C T SNP ABL2 ENST00000502732 human ensembl 69_37n -1 known missense c.1835 p.R612K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 52 0 0.00 16 12 42.86 - - - AFG3L2 0 genome.wustl.edu 37 18 12329635 12329635 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 18 12329635 12329635 C T SNP AFG3L2 ENST00000269143 human ensembl 69_37n -1 known missense c.2323 p.G775S 1.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 171 0 0.00 49 30 37.97 - - - ARHGEF18 0 genome.wustl.edu 37 19 7504982 7504982 + Silent SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 7504982 7504982 C T SNP ARHGEF18 ENST00000359920 human ensembl 69_37n +1 known silent c.156 p.G52 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 9 0 0.00 15 16 51.61 - - - CABS1 0 genome.wustl.edu 37 4 71200897 71200897 + Silent SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 4 71200897 71200897 C T SNP CABS1 ENST00000273936 human ensembl 69_37n +1 known silent c.141 p.H47 0.095 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 86 0 0.00 65 70 51.85 - - - CIRH1A 0 genome.wustl.edu 37 16 69184739 69184739 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 16 69184739 69184739 C T SNP CIRH1A ENST00000314423 human ensembl 69_37n +1 known missense c.934 p.R312C 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 115 0 0.00 51 26 33.77 - - - COL5A1 0 genome.wustl.edu 37 9 137591855 137591855 + Silent SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 9 137591855 137591855 G A SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known silent c.378 p.Q126 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 16 0 0.00 6 4 40.00 - - - DMTF1 0 genome.wustl.edu 37 7 86811354 86811354 + Frame_Shift_Del DEL T T - TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 7 86811354 86811354 T - DEL DMTF1 ENST00000394702 human ensembl 69_37n +1 known frame_shift_del c.732 p.F247fs 1.000 NULL NULL - no_errors DMTF1 HGNC ENSG00000135164 8 0 0.00 5 3 37.50 - - - DNASE1L3 0 genome.wustl.edu 37 3 58190568 58190568 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 3 58190568 58190568 C T SNP DNASE1L3 ENST00000318316 human ensembl 69_37n -1 known missense c.361 p.D121N 0.983 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L3 HGNC ENSG00000163687 126 0 0.00 83 34 29.06 - - - FAM47C 0 genome.wustl.edu 37 X 37027222 37027222 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 X 37027222 37027222 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.739 p.R247C 0.090 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 162 1 0.61 24 13 35.14 - - - GALNT12 0 genome.wustl.edu 37 9 101589095 101589095 + Silent SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 9 101589095 101589095 C T SNP GALNT12 ENST00000375011 human ensembl 69_37n +1 known silent c.603 p.R201 0.133 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 93 0 0.00 136 94 40.87 - - - GYS1 0 genome.wustl.edu 37 19 49472669 49472669 + Missense_Mutation SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 49472669 49472669 G A SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known missense c.2090 p.A697V 0.993 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 18 0 0.00 10 8 44.44 - - - IFI35 0 genome.wustl.edu 37 17 41164295 41164295 + Splice_Site SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 17 41164295 41164295 G A SNP IFI35 ENST00000438323 human ensembl 69_37n +1 known splice_site c.120+1 e2+1 0.992 - - - no_errors IFI35 HGNC ENSG00000068079 93 0 0.00 56 27 32.53 - - - IGHV3-30 0 genome.wustl.edu 37 14 106791268 106791268 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 14 106791268 106791268 C T SNP IGHV3-30 ENST00000390613 human ensembl 69_37n -1 known missense c.88 p.V30M 0.145 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-30 HGNC ENSG00000211953 290 0 0.00 54 20 27.03 - - - IKBKB 0 genome.wustl.edu 37 8 42178341 42178342 + Frame_Shift_Ins INS - - G TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 8 42178341 42178342 - G INS IKBKB ENST00000520810 human ensembl 69_37n +1 known frame_shift_ins c.1667_1668 p.T559fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 55 0 0.00 24 4 14.29 - - - IQCA1 0 genome.wustl.edu 37 2 237308121 237308121 + Missense_Mutation SNP T T G TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 2 237308121 237308121 T G SNP IQCA1 ENST00000409907 human ensembl 69_37n -1 known missense c.1145 p.E382A 0.289 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 244 0 0.00 91 74 44.85 - - - ITSN2 0 genome.wustl.edu 37 2 24531572 24531572 + Missense_Mutation SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 2 24531572 24531572 G A SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.707 p.S236L 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 114 0 0.00 93 66 41.25 - - - KIAA0226 0 genome.wustl.edu 37 3 197427914 197427915 + Frame_Shift_Ins INS - - G TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 3 197427914 197427915 - G INS KIAA0226 ENST00000296343 human ensembl 69_37n -1 known frame_shift_ins c.831_830 p.V278fs 0.000:0.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 31 0 0.00 10 3 23.08 - - - MUC5B 0 genome.wustl.edu 37 11 1269750 1269750 + Frame_Shift_Del DEL C C - TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 11 1269750 1269750 C - DEL MUC5B ENST00000447027 human ensembl 69_37n +1 known frame_shift_del c.11649 p.P3884fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 60 0 0.00 17 2 10.53 - - - NEDD4L 0 genome.wustl.edu 37 18 55990551 55990551 + Silent SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 18 55990551 55990551 G A SNP NEDD4L ENST00000400345 human ensembl 69_37n +1 known silent c.498 p.Q166 0.998 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 165 1 0.60 89 56 38.62 - - - PHF3 0 genome.wustl.edu 37 6 64395792 64395793 + Frame_Shift_Ins INS - - A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 6 64395792 64395793 - A INS PHF3 ENST00000262043 human ensembl 69_37n +1 known frame_shift_ins c.2169_2170 p.P725fs 1.000:1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 12 0 0.00 10 2 16.67 - - - PIM2 0 genome.wustl.edu 37 X 48772372 48772372 + Missense_Mutation SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 X 48772372 48772372 G A SNP PIM2 ENST00000376509 human ensembl 69_37n -1 known missense c.520 p.R174C 0.121 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM2 HGNC ENSG00000102096 56 0 0.00 94 60 38.96 - - - PIP5K1C 0 genome.wustl.edu 37 19 3633459 3633460 + Frame_Shift_Ins INS - - G TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 3633459 3633460 - G INS PIP5K1C ENST00000335312 human ensembl 69_37n -1 known frame_shift_ins c.1980_1979 p.A661fs 0.922:0.997 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 8 0 0.00 4 2 33.33 - - - PRAM1 0 genome.wustl.edu 37 19 8564392 8564393 + Frame_Shift_Ins INS - - C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 8564392 8564393 - C INS PRAM1 ENST00000423345 human ensembl 69_37n -1 known frame_shift_ins c.300_299 p.T101fs 0.001:0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 18 0 0.00 4 2 33.33 - - - PRAM1 0 genome.wustl.edu 37 19 8564394 8564395 + Frame_Shift_Ins INS - - CAAA TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 8564394 8564395 - CAAA INS PRAM1 ENST00000423345 human ensembl 69_37n -1 known frame_shift_ins c.298_297 p.V99fs 0.000:0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 18 0 0.00 4 2 33.33 - - - PRRG3 0 genome.wustl.edu 37 X 150869296 150869297 + Frame_Shift_Ins INS - - G TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 X 150869296 150869297 - G INS PRRG3 ENST00000370353 human ensembl 69_37n +1 known frame_shift_ins c.487_488 p.R166fs 0.000:0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 48 0 0.00 31 5 13.89 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220325077 220325077 + Silent SNP G G C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 1 220325077 220325077 G C SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known silent c.3897 p.V1299 0.956 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 99 0 0.00 65 50 43.48 - - - RAI1 0 genome.wustl.edu 37 17 17697697 17697697 + Nonsense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 17 17697697 17697697 C T SNP RAI1 ENST00000353383 human ensembl 69_37n +1 known nonsense c.1435 p.Q479* 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 9 0 0.00 9 7 43.75 - - - RICTOR 0 genome.wustl.edu 37 5 38952359 38952359 + Silent SNP T T C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 5 38952359 38952359 T C SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known silent c.3066 p.L1022 0.123 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 117 0 0.00 65 46 41.44 - - - RPS6KA1 0 genome.wustl.edu 37 1 26885310 26885311 + Frame_Shift_Ins INS - - C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 1 26885310 26885311 - C INS RPS6KA1 ENST00000531382 human ensembl 69_37n +1 known frame_shift_ins c.1124_1125 p.S378fs 1.000:0.993 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 26 0 0.00 12 3 20.00 - - - RREB1 0 genome.wustl.edu 37 6 7247180 7247181 + Frame_Shift_Ins INS - - C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 6 7247180 7247181 - C INS RREB1 ENST00000379938 human ensembl 69_37n +1 known frame_shift_ins c.4497_4498 p.E1501fs 0.080:0.159 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 12 0 0.00 13 2 13.33 - - - RTF1 0 genome.wustl.edu 37 15 41770786 41770788 + In_Frame_Del DEL TTA TTA - TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 15 41770786 41770788 TTA - DEL RTF1 ENST00000389629 human ensembl 69_37n +1 known in_frame_del c.1781_1783 p.FT594in_frame_delS 1.000:0.972:1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 123 0 0.00 148 354 61.89 - - - RTF1 0 genome.wustl.edu 37 15 41770809 41770809 + Frame_Shift_Del DEL A A - TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 15 41770809 41770809 A - DEL RTF1 ENST00000389629 human ensembl 69_37n +1 known frame_shift_del c.1804 p.T602fs 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 123 0 0.00 142 256 64.16 - - - SOBP 0 genome.wustl.edu 37 6 107955025 107955025 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 6 107955025 107955025 C T SNP SOBP ENST00000317357 human ensembl 69_37n +1 known missense c.977 p.P326L 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 51 0 0.00 22 29 56.86 - - - SPACA1 0 genome.wustl.edu 37 6 88769255 88769255 + Missense_Mutation SNP G G T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 6 88769255 88769255 G T SNP SPACA1 ENST00000237201 human ensembl 69_37n +1 known missense c.559 p.D187Y 0.764 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 105 0 0.00 60 38 38.78 - - - TMIGD2 0 genome.wustl.edu 37 19 4292606 4292606 + Frame_Shift_Del DEL C C - TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 19 4292606 4292606 C - DEL TMIGD2 ENST00000301272 human ensembl 69_37n -1 known frame_shift_del c.839 p.G280fs 0.002 NULL smart_Ig_sub,pfscan_Ig-like - no_errors TMIGD2 HGNC ENSG00000167664 31 0 0.00 10 2 16.67 - - - TTN 0 genome.wustl.edu 37 2 179499272 179499272 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 2 179499272 179499272 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.34532 p.R11511Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 29 0 0.00 18 23 56.10 - - - WBSCR22 0 genome.wustl.edu 37 7 73107983 73107983 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 7 73107983 73107983 C T SNP WBSCR22 ENST00000265758 human ensembl 69_37n +1 known missense c.626 p.S209L 0.768 pfam_Unchr_MeTrfase_Williams-Beuren pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 622 1 0.16 242 129 34.77 - - - ZCCHC5 0 genome.wustl.edu 37 X 77913883 77913883 + Missense_Mutation SNP A A C TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fd1db26-79e0-4018-8548-8fd20a96c479 f3a79920-cdfb-4dc7-b10b-9c143fd3d274 X 77913883 77913883 A C SNP ZCCHC5 ENST00000321110 human ensembl 69_37n -1 known missense c.35 p.L12R 0.999 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 66 0 0.00 41 38 48.10 - - -