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 ABCC12 0 genome.wustl.edu 37 16 48149418 48149418 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 16 48149418 48149418 C T SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.1897 p.V633M 0.994 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 131 0 0.00 29 11 27.50 - - - ABL1 0 genome.wustl.edu 37 9 133750254 133750254 + Splice_Site SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 9 133750254 133750254 G C SNP ABL1 ENST00000372348 human ensembl 69_37n +1 known splice_site c.1143-1 e7-1 1.000 - - - no_errors ABL1 HGNC ENSG00000097007 157 0 0.00 50 18 26.47 - - - ADCY2 0 genome.wustl.edu 37 5 7802447 7802447 + Silent SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 5 7802447 7802447 C G SNP ADCY2 ENST00000338316 human ensembl 69_37n +1 known silent c.2745 p.L915 0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 161 0 0.00 50 25 33.33 - - - ADD1 0 genome.wustl.edu 37 4 2930220 2930220 + Silent SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 4 2930220 2930220 G A SNP ADD1 ENST00000264758 human ensembl 69_37n +1 known silent c.2277 p.L759 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 37 0 0.00 26 6 18.75 - - - AKAP9 0 genome.wustl.edu 37 7 91712715 91712715 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 7 91712715 91712715 C G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.8428 p.L2810V 0.124 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 93 0 0.00 79 45 36.29 - - - ALOX12 0 genome.wustl.edu 37 17 6902773 6902773 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 6902773 6902773 G C SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known missense c.795 p.E265D 0.981 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 189 0 0.00 43 23 34.85 - - - ANAPC7 0 genome.wustl.edu 37 12 110832986 110832986 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 12 110832986 110832986 C T SNP ANAPC7 ENST00000455511 human ensembl 69_37n -1 known missense c.430 p.E144K 1.000 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 298 0 0.00 270 67 19.88 - - - AOC4 0 genome.wustl.edu 37 17 41020257 41020257 + RNA SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 41020257 41020257 G A SNP AOC4 ENST00000585538 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AOC4 Clone_based_vega_gene ENSG00000260105 109 0 0.00 23 7 23.33 - - - ARID2 0 genome.wustl.edu 37 12 46211464 46211464 + Nonsense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 12 46211464 46211464 C T SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known nonsense c.430 p.Q144* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 123 0 0.00 92 36 28.12 - - - ATM 0 genome.wustl.edu 37 11 108186737 108186737 + Splice_Site SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 11 108186737 108186737 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known splice_site c.6096-1 e41-1 1.000 - - - no_errors ATM HGNC ENSG00000149311 190 0 0.00 91 32 25.81 - - - C14orf38 0 genome.wustl.edu 37 14 60031832 60031832 + Missense_Mutation SNP T T C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 14 60031832 60031832 T C SNP C14orf38 ENST00000281581 human ensembl 69_37n -1 known missense c.653 p.E218G 0.007 NULL superfamily_Prefoldin - no_errors C14orf38 HGNC ENSG00000151838 635 1 0.16 596 166 21.78 - - - C7orf66 0 genome.wustl.edu 37 7 108524578 108524578 + Silent SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 7 108524578 108524578 C G SNP C7orf66 ENST00000379007 human ensembl 69_37n -1 putative silent c.12 p.V4 0.000 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 200 0 0.00 107 74 40.88 - - - CACNA1D 0 genome.wustl.edu 37 3 53839094 53839094 + Silent SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 3 53839094 53839094 C T SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known silent c.5730 p.F1910 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 87 0 0.00 39 5 11.36 - - - CACNA1G 0 genome.wustl.edu 37 17 48681624 48681624 + Silent SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 48681624 48681624 C T SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known silent c.4278 p.F1426 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 301 0 0.00 110 19 14.62 - - - CDK1 0 genome.wustl.edu 37 10 62553685 62553685 + Silent SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 10 62553685 62553685 G A SNP CDK1 ENST00000395284 human ensembl 69_37n +1 known silent c.846 p.L282 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK1 HGNC ENSG00000170312 113 0 0.00 107 22 17.05 - - - CST5 0 genome.wustl.edu 37 20 23860130 23860130 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 20 23860130 23860130 C T SNP CST5 ENST00000304710 human ensembl 69_37n -1 known missense c.184 p.D62N 0.001 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 144 0 0.00 34 11 24.44 - - - DNALI1 0 genome.wustl.edu 37 1 38024964 38024964 + Frame_Shift_Del DEL G G - TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 1 38024964 38024964 G - DEL DNALI1 ENST00000296218 human ensembl 69_37n +1 known frame_shift_del c.330 p.V111fs 1.000 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 35 0 0.00 9 2 18.18 - - - ELP5 0 genome.wustl.edu 37 17 7158001 7158001 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 7158001 7158001 G C SNP ELP5 ENST00000354429 human ensembl 69_37n +1 known missense c.336 p.K112N 0.000 pfam_Histone_acetylation_protein_2 pfam_Histone_acetylation_protein_2 - no_errors ELP5 HGNC ENSG00000170291 135 0 0.00 30 11 26.83 - - - EXOC3 0 genome.wustl.edu 37 5 446329 446329 + Silent SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 5 446329 446329 G A SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known silent c.9 p.E3 1.000 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 104 0 0.00 34 9 20.93 - - - FAR1 0 genome.wustl.edu 37 11 13721953 13721953 + Silent SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 11 13721953 13721953 C T SNP FAR1 ENST00000354817 human ensembl 69_37n +1 known silent c.279 p.L93 0.730 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 144 1 0.69 89 16 15.24 - - - FRMPD2 0 genome.wustl.edu 37 10 49379163 49379163 + Silent SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 10 49379163 49379163 G C SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known silent c.3312 p.L1104 0.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 97 0 0.00 78 15 16.13 - - - GMDS 0 genome.wustl.edu 37 6 2124947 2124947 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 6 2124947 2124947 C G SNP GMDS ENST00000380815 human ensembl 69_37n -1 known missense c.121 p.E41Q 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 163 0 0.00 66 11 14.29 - - - GRIA1 0 genome.wustl.edu 37 5 153065794 153065794 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 5 153065794 153065794 G C SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known missense c.1069 p.E357Q 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 131 0 0.00 90 17 15.89 - - - HIPK1 0 genome.wustl.edu 37 1 114483438 114483438 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 1 114483438 114483438 C G SNP HIPK1 ENST00000369558 human ensembl 69_37n +1 known missense c.433 p.L145V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC ENSG00000163349 28 0 0.00 14 7 33.33 - - - IFIH1 0 genome.wustl.edu 37 2 163128799 163128799 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 2 163128799 163128799 C G SNP IFIH1 ENST00000263642 human ensembl 69_37n -1 known missense c.2553 p.E851D 1.000 pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 247 0 0.00 163 31 15.98 - - - IKBKE 0 genome.wustl.edu 37 1 206658614 206658614 + Silent SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 1 206658614 206658614 G A SNP IKBKE ENST00000367120 human ensembl 69_37n +1 known silent c.1587 p.K529 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IKBKE HGNC ENSG00000143466 92 0 0.00 24 6 20.00 - - - INTS8 0 genome.wustl.edu 37 8 95884207 95884207 + Missense_Mutation SNP T T C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 8 95884207 95884207 T C SNP INTS8 ENST00000523731 human ensembl 69_37n +1 known missense c.2510 p.I837T 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 199 0 0.00 212 42 16.54 - - - JAGN1 0 genome.wustl.edu 37 3 9934708 9934708 + Nonsense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 3 9934708 9934708 C T SNP JAGN1 ENST00000307768 human ensembl 69_37n +1 known nonsense c.199 p.Q67* 0.986 pfam_DUF1352 pfam_DUF1352 - no_errors JAGN1 HGNC ENSG00000171135 246 0 0.00 96 30 23.81 - - - KCNQ2 0 genome.wustl.edu 37 20 62078142 62078142 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 20 62078142 62078142 G C SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.345 p.I115M 1.000 prints_K_chnl_volt-dep_KCNQ2 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 61 0 0.00 18 5 21.74 - - - MAP2K4 0 genome.wustl.edu 37 17 12043202 12043202 + Splice_Site SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 12043202 12043202 G A SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site c.1119+1 e11+1 1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 209 0 0.00 119 33 21.71 - - - NCKAP5 0 genome.wustl.edu 37 2 133541462 133541462 + Silent SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 2 133541462 133541462 C T SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known silent c.2922 p.L974 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 16 0 0.00 18 4 18.18 - - - NDNL2 0 genome.wustl.edu 37 15 29561355 29561355 + Silent SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 15 29561355 29561355 G A SNP NDNL2 ENST00000332303 human ensembl 69_37n -1 known silent c.555 p.L185 0.960 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDNL2 HGNC ENSG00000185115 100 0 0.00 37 10 21.28 - - - NEB 0 genome.wustl.edu 37 2 152406191 152406191 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 2 152406191 152406191 G C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.20008 p.H6670D 0.511 pfam_Nebulin_35r-motif,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 405 0 0.00 143 45 23.94 - - - PDZD2 0 genome.wustl.edu 37 5 32101067 32101070 + Splice_Site DEL TAAG TAAG - TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 5 32101067 32101070 TAAG - DEL PDZD2 ENST00000397559 human ensembl 69_37n +1 known splice_site_del c.NULL NULL 0.001:0.002:0.002:0.001 - - - no_errors PDZD2 HGNC ENSG00000133401 24 0 0.00 5 3 37.50 - - - RGPD3 0 genome.wustl.edu 37 2 107042506 107042506 + Missense_Mutation SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 2 107042506 107042506 G A SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known missense c.2644 p.P882S 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 300 0 0.00 321 45 12.30 - - - RRM2 0 genome.wustl.edu 37 2 10269010 10269010 + Silent SNP A A G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 2 10269010 10269010 A G SNP RRM2 ENST00000360566 human ensembl 69_37n +1 known silent c.1014 p.K338 0.998 pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like - no_errors RRM2 HGNC ENSG00000171848 229 0 0.00 229 63 21.58 - - - SALL2 0 genome.wustl.edu 37 14 21992915 21992915 + Missense_Mutation SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 14 21992915 21992915 G A SNP SALL2 ENST00000327430 human ensembl 69_37n -1 known missense c.947 p.S316L 0.047 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 69 0 0.00 23 10 30.30 - - - SEPT1 0 genome.wustl.edu 37 16 30393617 30393617 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 16 30393617 30393617 C G SNP SEPT1 ENST00000321367 human ensembl 69_37n -1 known missense c.88 p.D30H 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 138 0 0.00 28 16 36.36 - - - SLFN12L 0 genome.wustl.edu 37 17 33807200 33807200 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 17 33807200 33807200 C T SNP SLFN12L ENST00000449046 human ensembl 69_37n -1 known missense c.122 p.R41H 0.078 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 93 0 0.00 47 12 20.34 - - - STK33 0 genome.wustl.edu 37 11 8435219 8435219 + Silent SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 11 8435219 8435219 C T SNP STK33 ENST00000315204 human ensembl 69_37n -1 known silent c.1167 p.V389 0.220 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC ENSG00000130413 304 0 0.00 310 83 21.12 - - - SWAP70 0 genome.wustl.edu 37 11 9735179 9735179 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 11 9735179 9735179 C T SNP SWAP70 ENST00000318950 human ensembl 69_37n +1 known missense c.407 p.S136L 0.934 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 120 0 0.00 126 39 23.49 - - - TH1L 0 genome.wustl.edu 37 20 57564035 57564035 + Missense_Mutation SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 20 57564035 57564035 G A SNP TH1L ENST00000344018 human ensembl 69_37n +1 known missense c.490 p.E164K 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC ENSG00000101158 185 0 0.00 88 33 27.27 - - - USP12 0 genome.wustl.edu 37 13 27664021 27664021 + Missense_Mutation SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 13 27664021 27664021 G A SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.733 p.R245W 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 183 0 0.00 188 53 21.99 - - - VPS13B 0 genome.wustl.edu 37 8 100729551 100729551 + Missense_Mutation SNP G G C TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 8 100729551 100729551 G C SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.6682 p.E2228Q 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 122 0 0.00 125 32 20.38 - - - VPS41 0 genome.wustl.edu 37 7 38796567 38796567 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 7 38796567 38796567 C G SNP VPS41 ENST00000310301 human ensembl 69_37n -1 known missense c.1566 p.K522N 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 245 0 0.00 232 133 36.34 - - - ZNF610 0 genome.wustl.edu 37 19 52856956 52856956 + Missense_Mutation SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39b0b605-29ae-4e2c-81dc-319446c807dd 00bd0921-b765-4fbd-ab79-4d85aba0d1f6 19 52856956 52856956 G A SNP ZNF610 ENST00000327920 human ensembl 69_37n +1 known missense c.85 p.V29M 0.972 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF610 HGNC ENSG00000167554 237 0 0.00 145 52 26.40 - - -