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 AKAP2 11217 genome.wustl.edu 37 9 112930801 112930801 + RNA SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 9 112930801 112930801 C T SNP AKAP2 ENST00000482335 human ensembl 70_37 +1 known rna NULL NULL 0.922 - - - no_errors AKAP2 HGNC ANKRD50 57182 genome.wustl.edu 37 4 125590986 125590986 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 4 125590986 125590986 G A SNP ANKRD50 ENST00000504087 human ensembl 70_37 -1 known missense c.3446 p.S1149L 0.975 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC BCAT2 587 genome.wustl.edu 37 19 49298713 49298713 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 49298713 49298713 G C SNP BCAT2 ENST00000316273 human ensembl 70_37 -1 known missense c.1149 p.I383M 0.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC C11orf63 79864 genome.wustl.edu 37 11 122795698 122795698 + Nonsense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 11 122795698 122795698 C T SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known nonsense c.958 p.Q320* 1.000 NULL NULL - no_errors C11orf63 HGNC CDX4 1046 genome.wustl.edu 37 X 72667526 72667526 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e X 72667526 72667526 C G SNP CDX4 ENST00000373514 human ensembl 70_37 +1 known missense c.437 p.A146G 0.545 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC CNBD1 168975 genome.wustl.edu 37 8 88249266 88249266 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 8 88249266 88249266 C T SNP CNBD1 ENST00000518476 human ensembl 70_37 +1 known missense c.697 p.H233Y 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC COG2 22796 genome.wustl.edu 37 1 230825830 230825830 + Missense_Mutation SNP A A T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 230825830 230825830 A T SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.1865 p.H622L 0.039 pfam_COG_complex_COG2_C pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC COL16A1 1307 genome.wustl.edu 37 1 32138516 32138516 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 32138516 32138516 G A SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.2845 p.H949Y 0.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC CRYGA 1418 genome.wustl.edu 37 2 209025710 209025710 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 209025710 209025710 G T SNP CRYGA ENST00000304502 human ensembl 70_37 -1 known missense c.343 p.L115M 0.729 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC DSCAML1 57453 genome.wustl.edu 37 11 117374667 117374667 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 11 117374667 117374667 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.2432 p.S811L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000222117 0 genome.wustl.edu 37 9 105057701 105057701 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 9 105057701 105057701 G A SNP ENSG00000222117 ENST00000410185 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL391867.1 Clone_based_ensembl_gene ENSG00000267328 0 genome.wustl.edu 37 19 36246265 36246265 + RNA SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 36246265 36246265 C G SNP ENSG00000267328 ENST00000587767 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002398.12 Clone_based_vega_gene FBXO4 26272 genome.wustl.edu 37 5 41927154 41927154 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 41927154 41927154 C T SNP FBXO4 ENST00000281623 human ensembl 70_37 +1 known missense c.229 p.H77Y 0.498 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO4 HGNC FPGT 8790 genome.wustl.edu 37 1 74671227 74671227 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 74671227 74671227 C T SNP FPGT ENST00000370898 human ensembl 70_37 +1 known missense c.1496 p.S499L 0.952 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC GCNT4 51301 genome.wustl.edu 37 5 74324664 74324664 + Nonsense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 74324664 74324664 C T SNP GCNT4 ENST00000322348 human ensembl 70_37 -1 known nonsense c.1199 p.W400* 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC GLTSCR1 29998 genome.wustl.edu 37 19 48202003 48202003 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 48202003 48202003 C G SNP GLTSCR1 ENST00000396720 human ensembl 70_37 +1 known missense c.3361 p.Q1121E 1.000 NULL NULL - no_errors GLTSCR1 HGNC HERC2 8924 genome.wustl.edu 37 15 28358750 28358750 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 15 28358750 28358750 G C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.13988 p.S4663C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HMGN2 3151 genome.wustl.edu 37 1 26801498 26801498 + RNA SNP T T C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 26801498 26801498 T C SNP HMGN2 ENST00000493418 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HMGN2 HGNC IDI2-AS1 55853 genome.wustl.edu 37 10 1082762 1082762 + RNA SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 10 1082762 1082762 C T SNP IDI2-AS1 ENST00000420381 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors IDI2-AS1 HGNC MARCH7 64844 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 70_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC METTL8 79828 genome.wustl.edu 37 2 172217022 172217022 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 172217022 172217022 C G SNP METTL8 ENST00000392604 human ensembl 70_37 -1 known missense c.145 p.D49H 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC MGAT5B 146664 genome.wustl.edu 37 17 74909778 74909778 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 74909778 74909778 G A SNP MGAT5B ENST00000374998 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MGAT5B HGNC MON2 23041 genome.wustl.edu 37 12 62918307 62918307 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 12 62918307 62918307 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.997 p.E333K 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47041727 47041727 + Missense_Mutation SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 3 47041727 47041727 C G SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4138 p.L1380V 0.073 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NF2 4771 genome.wustl.edu 37 22 30070877 30070877 + Nonsense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 30070877 30070877 G T SNP NF2 ENST00000338641 human ensembl 70_37 +1 known nonsense c.1393 p.E465* 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC NLRP1 22861 genome.wustl.edu 37 17 5456859 5456859 + Missense_Mutation SNP A A T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 5456859 5456859 A T SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.2375 p.V792D 0.504 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228480445 228480445 + Missense_Mutation SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 228480445 228480445 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.10825 p.V3609M 0.518 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC PLEKHG5 57449 genome.wustl.edu 37 1 6531079 6531079 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 6531079 6531079 C T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.1600 p.D534N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC PSPH 5723 genome.wustl.edu 37 7 56079283 56079283 + RNA DEL A A - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 7 56079283 56079283 A - DEL PSPH ENST00000459834 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSPH HGNC RBM3 5935 genome.wustl.edu 37 X 48434778 48434778 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e X 48434778 48434778 C T SNP RBM3 ENST00000430348 human ensembl 70_37 +1 known missense c.205 p.P69S 0.332 NULL NULL - no_errors RBM3 HGNC RTDR1 27156 genome.wustl.edu 37 22 23478486 23478486 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 23478486 23478486 C T SNP RTDR1 ENST00000406876 human ensembl 70_37 -1 putative silent c.326 p.*109 0.021 NULL superfamily_ARM-type_fold - no_errors RTDR1 HGNC SARS 6301 genome.wustl.edu 37 1 109779286 109779286 + RNA SNP C C G TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 1 109779286 109779286 C G SNP SARS ENST00000468588 human ensembl 70_37 +1 known rna NULL NULL 0.078 - - - no_errors SARS HGNC SEC14L4 284904 genome.wustl.edu 37 22 30887561 30887561 + Silent SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 30887561 30887561 G C SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known silent c.1080 p.V360 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC SECTM1 6398 genome.wustl.edu 37 17 80280224 80280224 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 80280224 80280224 G T SNP SECTM1 ENST00000269389 human ensembl 70_37 -1 known missense c.560 p.P187H 0.000 NULL NULL - no_errors SECTM1 HGNC SGK223 157285 genome.wustl.edu 37 8 8176083 8176083 + Missense_Mutation SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 8 8176083 8176083 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.3802 p.E1268K 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename SMAP1 60682 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 70_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC SNORD115-36 100033810 genome.wustl.edu 37 15 25481267 25481267 + RNA SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 15 25481267 25481267 G A SNP SNORD115-36 ENST00000365629 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORD115-36 HGNC SPECC1 92521 genome.wustl.edu 37 17 20108175 20108175 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 17 20108175 20108175 C T SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known silent c.813 p.G271 0.004 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC TBC1D4 9882 genome.wustl.edu 37 13 75923387 75923387 + Silent SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 13 75923387 75923387 G A SNP TBC1D4 ENST00000377636 human ensembl 70_37 -1 known silent c.1327 p.L443 1.000 smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC TCF20 6942 genome.wustl.edu 37 22 42609199 42609199 + Missense_Mutation SNP G G C TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 22 42609199 42609199 G C SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.2113 p.L705V 0.998 NULL smart_Znf_PHD - no_errors TCF20 HGNC THOC3 84321 genome.wustl.edu 37 5 175394547 175394548 + RNA INS - - ACC TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 5 175394547 175394548 - ACC INS THOC3 ENST00000510300 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors THOC3 HGNC TPO 7173 genome.wustl.edu 37 2 1457571 1457571 + Silent SNP G G A TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 2 1457571 1457571 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.588 p.L196 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC VENTX 27287 genome.wustl.edu 37 10 135051484 135051484 + Missense_Mutation SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 10 135051484 135051484 G T SNP VENTX ENST00000325980 human ensembl 70_37 +1 known missense c.66 p.W22C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VENTX HGNC ZKSCAN1 7586 genome.wustl.edu 37 7 99621384 99621384 + Silent SNP G G T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 7 99621384 99621384 G T SNP ZKSCAN1 ENST00000324306 human ensembl 70_37 +1 known silent c.255 p.L85 0.033 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ZNF177 7730 genome.wustl.edu 37 19 9491580 9491580 + Silent SNP C C T TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e18b908-26a3-4f67-9d6d-cfc889c2ec18 6ca9de1a-09d8-4950-9f9c-c1fd7d36aa7e 19 9491580 9491580 C T SNP ZNF177 ENST00000434737 human ensembl 70_37 +1 known silent c.573 p.L191 0.000 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 ZNF177 HGNC