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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACIN1 0 genome.wustl.edu 37 14 23532236 23532236 + Missense_Mutation SNP A A C TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 14 23532236 23532236 A C SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.2959 p.S987A 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 tier1 - - 107 0 0.00 93 6 6.06 AIM2 0 genome.wustl.edu 37 1 159032487 159032487 + Frame_Shift_Del DEL T T - TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 159032487 159032487 T - DEL AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 40 0 0.00 36 3 7.69 B4GALNT4 0 genome.wustl.edu 37 11 375479 375479 + Missense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 11 375479 375479 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.802 p.G268S 0.951 smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 100 0 0.00 110 9 7.56 CABIN1 0 genome.wustl.edu 37 22 24567822 24567822 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 22 24567822 24567822 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.5899 p.R1967C 0.987 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 55 0 0.00 37 5 11.90 CACNA1A 0 genome.wustl.edu 37 19 13428098 13428098 + Missense_Mutation SNP C C A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 13428098 13428098 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1383 p.K461N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 44 0 0.00 25 5 16.67 CARM1 0 genome.wustl.edu 37 19 11031116 11031116 + Missense_Mutation SNP A A G TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 11031116 11031116 A G SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1201 p.T401A 1.000 pfam_Arg_MeTrfase pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 tier1 - - 32 0 0.00 30 4 11.76 COL12A1 0 genome.wustl.edu 37 6 75875409 75875409 + Missense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 6 75875409 75875409 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.2797 p.R933C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 105 0 0.00 82 5 5.75 COL17A1 0 genome.wustl.edu 37 10 105812833 105812833 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 10 105812833 105812833 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.1895 p.R632H 0.935 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 101 0 0.00 78 14 15.22 COL27A1 0 genome.wustl.edu 37 9 116918267 116918269 + In_Frame_Del DEL GCG GCG - TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 9 116918267 116918269 GCG - DEL COL27A1 ENST00000356083 human ensembl 74_37 +1 known in_frame_del c.37_39 p.A16in_frame_del 1.000:1.000:0.993 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 27 0 0.00 15 3 16.67 DST 0 genome.wustl.edu 37 6 56392408 56392408 + Frame_Shift_Del DEL C C - TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 6 56392408 56392408 C - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.17712 p.H5905fs 0.989 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 38 0 0.00 28 2 6.67 ENC1 0 genome.wustl.edu 37 5 73931500 73931500 + Missense_Mutation SNP T T A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 5 73931500 73931500 T A SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.811 p.R271W 0.994 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 tier1 - - 36 0 0.00 45 4 8.16 ENPEP 0 genome.wustl.edu 37 4 111397948 111397948 + Silent SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 4 111397948 111397948 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.378 p.S126 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 129 0 0.00 131 9 6.43 ENSG00000230239 0 genome.wustl.edu 37 1 17185709 17185709 + RNA SNP A A G TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 17185709 17185709 A G SNP ENSG00000230239 ENST00000414128 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-108M9.2 Clone_based_vega_gene ENSG00000230239 tier1 - - 10 0 0.00 14 6 30.00 ENSG00000252404 0 genome.wustl.edu 37 1 9142937 9142938 + RNA INS - - A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 9142937 9142938 - A INS ENSG00000252404 ENST00000516595 human ensembl 74_37 +1 novel rna NULL NULL 0.022:0.023 - - - no_errors SCARNA16 RFAM ENSG00000252404 tier1 10 0 0.00 5 2 28.57 ERCC6 0 genome.wustl.edu 37 10 50678710 50678710 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 10 50678710 50678710 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.3296 p.S1099N 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 116 0 0.00 101 8 7.34 ESPNP 0 genome.wustl.edu 37 1 17026504 17026504 + RNA SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 17026504 17026504 G A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 rs200083134 - 13 0 0.00 10 4 28.57 FCGBP 0 genome.wustl.edu 37 19 40368553 40368553 + Silent SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 40368553 40368553 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.12795 p.T4265 0.017 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 45 0 0.00 54 4 6.90 GAD1 0 genome.wustl.edu 37 2 171713632 171713632 + Silent SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 2 171713632 171713632 C T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known silent c.1518 p.G506 0.065 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 tier1 rs200287610 - 77 0 0.00 66 5 7.04 GPR158 0 genome.wustl.edu 37 10 25886793 25886793 + Silent SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 10 25886793 25886793 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2238 p.S746 0.009 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 96 0 0.00 88 8 8.33 HECTD2 0 genome.wustl.edu 37 10 93253221 93253221 + Missense_Mutation SNP A A T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 10 93253221 93253221 A T SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.1489 p.S497C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 tier1 - - 56 0 0.00 57 5 8.06 KATNAL1 0 genome.wustl.edu 37 13 30805517 30805517 + Silent SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 13 30805517 30805517 C T SNP KATNAL1 ENST00000380615 human ensembl 74_37 -1 known silent c.819 p.S273 0.157 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 tier1 - - 77 0 0.00 71 13 15.48 MAB21L2 0 genome.wustl.edu 37 4 151505063 151505063 + Silent SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 4 151505063 151505063 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known silent c.882 p.S294 0.945 pfam_Mab-21_dom,pfscan_Ricin_B_lectin pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 tier1 - - 59 0 0.00 55 13 19.12 MBD5 0 genome.wustl.edu 37 2 149227610 149227610 + Missense_Mutation SNP T T C TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 2 149227610 149227610 T C SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2098 p.S700P 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 32 0 0.00 27 8 22.86 MST1L 0 genome.wustl.edu 37 1 17084815 17084815 + RNA SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 17084815 17084815 G A SNP MST1L ENST00000544155 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors MST1L HGNC ENSG00000186715 tier1 rs11260922 - 8 0 0.00 3 9 75.00 NRXN2 0 genome.wustl.edu 37 11 64457919 64457919 + Frame_Shift_Del DEL C C - TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 11 64457919 64457919 C - DEL NRXN2 ENST00000265459 human ensembl 74_37 -1 known frame_shift_del c.808 p.A270fs 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 11 0 0.00 3 3 50.00 PCDHA1 0 genome.wustl.edu 37 5 140168138 140168138 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 5 140168138 140168138 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2263 p.R755W 0.373 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 28 0 0.00 27 5 15.62 PCDHA13 0 genome.wustl.edu 37 5 140262318 140262318 + Missense_Mutation SNP T T A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 5 140262318 140262318 T A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.465 p.D155E 0.366 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 61 0 0.00 53 10 15.62 PCDHGA4 0 genome.wustl.edu 37 5 140734787 140734787 + Missense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 5 140734787 140734787 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.20 p.R7H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 54 0 0.00 66 9 11.84 POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 74_37 +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 61 0 0.00 63 6 8.70 PPAN-P2RY11 0 genome.wustl.edu 37 19 10221461 10221461 + Nonsense_Mutation SNP G G T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 10221461 10221461 G T SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known nonsense c.1120 p.E374* 0.000 NULL pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 tier1 - - 137 0 0.00 116 10 7.94 SCAF8 0 genome.wustl.edu 37 6 155145372 155145372 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 6 155145372 155145372 C T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.2129 p.P710L 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 113 0 0.00 72 17 19.10 SLC36A4 0 genome.wustl.edu 37 11 92887388 92887388 + Missense_Mutation SNP T T C TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 11 92887388 92887388 T C SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known missense c.1093 p.I365V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 tier1 - - 115 0 0.00 105 11 9.48 SLC6A11 0 genome.wustl.edu 37 3 10886030 10886030 + Missense_Mutation SNP A A G TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 3 10886030 10886030 A G SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.755 p.K252R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 - - 38 0 0.00 36 4 10.00 SLITRK5 0 genome.wustl.edu 37 13 88329638 88329638 + Silent SNP G G T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 13 88329638 88329638 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1995 p.V665 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 35 0 0.00 33 8 19.51 SMYD3 0 genome.wustl.edu 37 1 246498701 246498701 + Missense_Mutation SNP C C A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 1 246498701 246498701 C A SNP SMYD3 ENST00000388985 human ensembl 74_37 -1 known missense c.304 p.V102F 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 tier1 - - 117 0 0.00 92 16 14.81 SUPT5H 0 genome.wustl.edu 37 19 39957335 39957335 + Silent SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 39957335 39957335 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.987 p.R329 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 144 0 0.00 92 8 8.00 TAF1L 0 genome.wustl.edu 37 9 32630488 32630488 + Missense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 9 32630488 32630488 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.5090 p.T1697I 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 115 0 0.00 102 12 10.53 TMEM184A 0 genome.wustl.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 7 1586653 1586654 - GCC INS TMEM184A ENST00000297477 human ensembl 74_37 -1 known in_frame_ins c.1177_1176 p.392in_frame_insG 0.000:0.000 NULL pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 tier1 11 0 0.00 11 7 38.89 TRIM60 0 genome.wustl.edu 37 4 165962393 165962393 + Missense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 4 165962393 165962393 G A SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.1169 p.R390Q 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 tier1 rs143583038 - 127 0 0.00 123 10 7.46 TSHZ2 0 genome.wustl.edu 37 20 51871290 51871290 + Silent SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 20 51871290 51871290 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.1293 p.S431 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 150 0 0.00 123 9 6.82 UBQLNL 0 genome.wustl.edu 37 11 5537652 5537652 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 11 5537652 5537652 C T SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.20 p.R7Q 0.006 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 66 0 0.00 56 7 11.11 UXS1 0 genome.wustl.edu 37 2 106729111 106729111 + Missense_Mutation SNP C C A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 2 106729111 106729111 C A SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.870 p.E290D 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 36 0 0.00 46 5 9.62 VPS52 0 genome.wustl.edu 37 6 33236383 33236383 + Nonsense_Mutation SNP G G A TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 6 33236383 33236383 G A SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known nonsense c.592 p.Q198* 1.000 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 52 0 0.00 48 3 5.88 ZFHX3 0 genome.wustl.edu 37 16 72831358 72831360 + In_Frame_Del DEL TTG TTG - TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 16 72831358 72831360 TTG - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known in_frame_del c.5223_5221 p.Q1741in_frame_del 0.993:0.992:0.988 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 18 0 0.00 15 4 21.05 ZHX1 0 genome.wustl.edu 37 8 124266095 124266095 + Missense_Mutation SNP C C T TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 8 124266095 124266095 C T SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.2092 p.G698R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 104 0 0.00 89 7 7.29 ZNF224 0 genome.wustl.edu 37 19 44611545 44611545 + Missense_Mutation SNP C C G TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 44611545 44611545 C G SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.1232 p.T411R 0.000 smart_Znf_C2H2-like,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 ZNF224 HGNC ENSG00000267680 tier1 - - 74 0 0.00 70 9 11.39 ZNF43 0 genome.wustl.edu 37 19 21991216 21991216 + Silent SNP T T C TCGA-RD-A8N5-01A-12D-A364-08 TCGA-RD-A8N5-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f7dfbea-7b16-4b34-837a-498f840f9ad3 10726033-4d39-4c9c-b962-cdf946346a3c 19 21991216 21991216 T C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known silent c.1623 p.E541 0.404 smart_Znf_C2H2-like,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 ZNF43 HGNC ENSG00000198521 tier1 - - 76 0 0.00 79 6 7.06