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 ASTN1 0 genome.wustl.edu 37 1 176913118 176913118 + Silent SNP C C A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 1 176913118 176913118 C A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known silent c.2310 p.L770 1.000 NULL superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 88 0 0.00 86 43 33.08 - - - BRCC3 0 genome.wustl.edu 37 X 154317544 154317544 + Missense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 X 154317544 154317544 G A SNP BRCC3 ENST00000399042 human ensembl 69_37n +1 known missense c.410 p.R137H 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC ENSG00000185515 165 0 0.00 164 31 15.90 - - - CAPN14 0 genome.wustl.edu 37 2 31412212 31412212 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 2 31412212 31412212 C T SNP CAPN14 ENST00000444918 human ensembl 69_37n -1 known missense c.1420 p.V474M 0.995 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC ENSG00000214711 95 0 0.00 94 58 38.16 - - - CCDC91 0 genome.wustl.edu 37 12 28459679 28459679 + Missense_Mutation SNP A A C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 12 28459679 28459679 A C SNP CCDC91 ENST00000381259 human ensembl 69_37n +1 known missense c.272 p.Q91P 1.000 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 98 0 0.00 95 22 18.80 - - - CFP 0 genome.wustl.edu 37 X 47489181 47489181 + Silent SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 X 47489181 47489181 G C SNP CFP ENST00000247153 human ensembl 69_37n -1 known silent c.63 p.T21 0.162 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 17 0 0.00 23 9 28.12 - - - CRKL 0 genome.wustl.edu 37 22 21272296 21272296 + Missense_Mutation SNP A A G TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 22 21272296 21272296 A G SNP CRKL ENST00000354336 human ensembl 69_37n +1 known missense c.74 p.Q25R 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRKL HGNC ENSG00000099942 23 0 0.00 8 13 61.90 - - - DBN1 0 genome.wustl.edu 37 5 176885058 176885058 + Splice_Site SNP C C G TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 5 176885058 176885058 C G SNP DBN1 ENST00000292385 human ensembl 69_37n -1 known splice_site c.1782+1 e12+1 1.000 - - - no_errors DBN1 HGNC ENSG00000113758 16 0 0.00 3 7 70.00 - - - DCUN1D2 0 genome.wustl.edu 37 13 114128499 114128499 + Missense_Mutation SNP A A G TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 13 114128499 114128499 A G SNP DCUN1D2 ENST00000478244 human ensembl 69_37n -1 known missense c.460 p.F154L 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 125 1 0.79 144 40 21.74 - - - DNAH14 0 genome.wustl.edu 37 1 225568025 225568025 + Splice_Site SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 1 225568025 225568025 G A SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known splice_site c.12574+1 e77+1 1.000 - - - no_errors DNAH14 HGNC ENSG00000185842 109 0 0.00 162 31 16.06 - - - DUSP27 0 genome.wustl.edu 37 1 167095568 167095568 + Silent SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 1 167095568 167095568 C T SNP DUSP27 ENST00000271385 human ensembl 69_37n +1 known silent c.1200 p.N400 0.988 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 34 0 0.00 33 20 37.74 - - - ELP2 0 genome.wustl.edu 37 18 33721133 33721133 + Missense_Mutation SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 18 33721133 33721133 G C SNP ELP2 ENST00000358232 human ensembl 69_37n +1 known missense c.557 p.R186T 0.992 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 191 0 0.00 118 36 23.38 - - - GGT3P 0 genome.wustl.edu 37 22 18778675 18778675 + RNA SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 22 18778675 18778675 C T SNP GGT3P ENST00000412448 human ensembl 69_37n -1 known rna NULL NULL 0.913 - - - no_errors GGT3P HGNC ENSG00000197421 26 0 0.00 53 15 22.06 - - - HACE1 0 genome.wustl.edu 37 6 105244542 105244542 + Silent SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 6 105244542 105244542 G C SNP HACE1 ENST00000262903 human ensembl 69_37n -1 known silent c.804 p.L268 0.198 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 195 0 0.00 128 906 87.45 - - - HIST1H3C 0 genome.wustl.edu 37 6 26045726 26045726 + Missense_Mutation SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 6 26045726 26045726 G C SNP HIST1H3C ENST00000540144 human ensembl 69_37n +1 known missense c.88 p.A30P 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 23 0 0.00 35 9 20.45 - - - IGHA1 0 genome.wustl.edu 37 14 106174386 106174386 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 14 106174386 106174386 C T SNP IGHA1 ENST00000390547 human ensembl 69_37n -1 known missense c.403 p.E135K 0.414 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHA1 HGNC ENSG00000211895 85 0 0.00 159 36 18.46 - - - ISLR 0 genome.wustl.edu 37 15 74468053 74468053 + Missense_Mutation SNP T T C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 15 74468053 74468053 T C SNP ISLR ENST00000249842 human ensembl 69_37n +1 known missense c.854 p.V285A 0.026 pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like - no_errors ISLR HGNC ENSG00000129009 12 0 0.00 24 8 25.00 - - - KIAA0922 0 genome.wustl.edu 37 4 154547305 154547305 + Missense_Mutation SNP G G T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 4 154547305 154547305 G T SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known missense c.4052 p.S1351I 0.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 421 1 0.24 225 93 29.15 - - - KIF4A 0 genome.wustl.edu 37 X 69510350 69510350 + Silent SNP G G T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 X 69510350 69510350 G T SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known silent c.42 p.L14 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 79 0 0.00 131 28 17.50 - - - KIFC2 0 genome.wustl.edu 37 8 145692700 145692700 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 8 145692700 145692700 C T SNP KIFC2 ENST00000301332 human ensembl 69_37n +1 known missense c.445 p.R149W 0.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 20 0 0.00 12 8 40.00 - - - LUZP4 0 genome.wustl.edu 37 X 114524334 114524334 + Silent SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 X 114524334 114524334 G A SNP LUZP4 ENST00000371920 human ensembl 69_37n +1 known silent c.9 p.S3 0.031 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 89 0 0.00 70 12 14.63 - - - MAGI1 0 genome.wustl.edu 37 3 65342480 65342480 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 3 65342480 65342480 C T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3962 p.R1321Q 0.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 70 0 0.00 25 12 32.43 - - - METAP2 0 genome.wustl.edu 37 12 95905673 95905673 + Nonsense_Mutation SNP A A T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 12 95905673 95905673 A T SNP METAP2 ENST00000323666 human ensembl 69_37n +1 known nonsense c.967 p.K323* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 132 0 0.00 287 36 11.11 - - - MYO18B 0 genome.wustl.edu 37 22 26422713 26422713 + Missense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 22 26422713 26422713 G A SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.6773 p.R2258Q 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 16 0 0.00 21 9 30.00 - - - NOX4 0 genome.wustl.edu 37 11 89106652 89106652 + Missense_Mutation SNP A A G TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 11 89106652 89106652 A G SNP NOX4 ENST00000529343 human ensembl 69_37n -1 known missense c.638 p.L213P 1.000 NULL pfam_Fe3_Rdtase_TM_dom,tigrfam_Znf_LSD1 - no_errors NOX4 HGNC ENSG00000086991 110 0 0.00 41 48 53.93 - - - NRXN3 0 genome.wustl.edu 37 14 79933659 79933659 + Missense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 14 79933659 79933659 G A SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known missense c.3325 p.V1109M 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 43 0 0.00 75 21 21.43 - - - OR4K2 0 genome.wustl.edu 37 14 20345239 20345239 + Silent SNP G G T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 14 20345239 20345239 G T SNP OR4K2 ENST00000298642 human ensembl 69_37n +1 known silent c.813 p.L271 0.586 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K2 HGNC ENSG00000165762 175 0 0.00 199 57 22.18 - - - OTOF 0 genome.wustl.edu 37 2 26696148 26696148 + Nonsense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 2 26696148 26696148 G A SNP OTOF ENST00000426958 human ensembl 69_37n -1 putative nonsense c.151 p.R51* 0.956 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OTOF HGNC ENSG00000115155 55 0 0.00 58 11 15.94 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 117 0 0.00 70 80 53.33 - - - PSIP1 0 genome.wustl.edu 37 9 15469016 15469016 + Missense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 9 15469016 15469016 G A SNP PSIP1 ENST00000380733 human ensembl 69_37n -1 known missense c.1145 p.S382L 1.000 pfam_LEDGF pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP - no_errors PSIP1 HGNC ENSG00000164985 133 1 0.75 72 27 27.27 - - - PTCHD3 0 genome.wustl.edu 37 10 27702625 27702625 + Silent SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 10 27702625 27702625 C T SNP PTCHD3 ENST00000438700 human ensembl 69_37n -1 known silent c.555 p.V185 0.389 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 18 0 0.00 40 8 16.67 - - - SPHKAP 0 genome.wustl.edu 37 2 228883499 228883499 + Missense_Mutation SNP C C A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 2 228883499 228883499 C A SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.2071 p.D691Y 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 227 0 0.00 152 68 30.91 - - - SPRED1 0 genome.wustl.edu 37 15 38591723 38591723 + Missense_Mutation SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 15 38591723 38591723 G A SNP SPRED1 ENST00000299084 human ensembl 69_37n +1 known missense c.182 p.R61H 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 90 0 0.00 61 23 27.38 - - - TMC5 0 genome.wustl.edu 37 16 19481012 19481012 + Silent SNP G G A TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 16 19481012 19481012 G A SNP TMC5 ENST00000396229 human ensembl 69_37n +1 known silent c.1647 p.K549 0.915 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 127 0 0.00 127 32 20.00 - - - TP53 0 genome.wustl.edu 37 17 7578538 7578538 + Frame_Shift_Del DEL T T - TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 17 7578538 7578538 T - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.392 p.N131fs 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 64 0 0.00 33 44 56.41 - - - TRAK2 0 genome.wustl.edu 37 2 202245617 202245617 + Silent SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 2 202245617 202245617 G C SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known silent c.2394 p.L798 0.931 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 96 0 0.00 65 40 38.10 - - - ULK4P1 0 genome.wustl.edu 37 15 32720492 32720492 + RNA SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 15 32720492 32720492 G C SNP ULK4P1 ENST00000562108 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ULK4P1 HGNC ENSG00000215304 11 0 0.00 12 5 29.41 - - - WDR33 0 genome.wustl.edu 37 2 128463985 128463985 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 2 128463985 128463985 C T SNP WDR33 ENST00000322313 human ensembl 69_37n -1 known missense c.3923 p.R1308Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 26 0 0.00 24 10 29.41 - - - XRRA1 0 genome.wustl.edu 37 11 74570222 74570222 + Missense_Mutation SNP A A C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 11 74570222 74570222 A C SNP XRRA1 ENST00000340360 human ensembl 69_37n -1 known missense c.1127 p.L376R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 80 0 0.00 108 56 33.94 - - - ZKSCAN4 0 genome.wustl.edu 37 6 28214862 28214862 + Silent SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da70101d-10c2-47ab-bce1-7757dcbb08a2 b5de4094-f708-472f-aeb6-a7ed61223af5 6 28214862 28214862 C T SNP ZKSCAN4 ENST00000377294 human ensembl 69_37n -1 known silent c.663 p.L221 0.988 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZKSCAN4 HGNC ENSG00000187626 77 0 0.00 93 23 19.66 - - -