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 ANKRD30BL 0 genome.wustl.edu 37 2 133015302 133015302 + RNA SNP T T G TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 2 133015302 133015302 T G SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors ANKRD30BL HGNC ENSG00000163046 10 0 0.00 42 25 37.31 - - - ARMCX2 0 genome.wustl.edu 37 X 100911424 100911424 + Missense_Mutation SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc X 100911424 100911424 C T SNP ARMCX2 ENST00000328766 human ensembl 69_37n -1 known missense c.1151 p.G384D 0.998 pfam_ARM-rpt_dom pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 80 0 0.00 103 66 39.05 - - - BPHL 0 genome.wustl.edu 37 6 3119540 3119540 + Nonsense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 6 3119540 3119540 C A SNP BPHL ENST00000424847 human ensembl 69_37n +1 known nonsense c.129 p.Y43* 0.001 NULL NULL - no_errors BPHL HGNC ENSG00000137274 37 0 0.00 55 7 11.29 - - - C7orf71 0 genome.wustl.edu 37 7 26686000 26686001 + Frame_Shift_Ins INS - - AA TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 7 26686000 26686001 - AA INS C7orf71 ENST00000409974 human ensembl 69_37n +1 known frame_shift_ins c.351_352 p.A118fs 0.769:0.680 NULL NULL - no_errors C7orf71 HGNC ENSG00000222004 94 0 0.00 293 48 14.08 - - - CELSR2 0 genome.wustl.edu 37 1 109808508 109808509 + Frame_Shift_Ins INS - - T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 109808508 109808509 - T INS CELSR2 ENST00000271332 human ensembl 69_37n +1 known frame_shift_ins c.5879_5880 p.A1962fs 1.000:0.968 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 26 0 0.00 15 29 65.91 - - - CFHR4 0 genome.wustl.edu 37 1 196884227 196884227 + Missense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 196884227 196884227 C A SNP CFHR4 ENST00000367416 human ensembl 69_37n +1 known missense c.1496 p.T499K 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 159 0 0.00 293 82 21.87 - - - CLIP4 0 genome.wustl.edu 37 2 29366667 29366667 + Silent SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 2 29366667 29366667 C A SNP CLIP4 ENST00000402240 human ensembl 69_37n +1 known silent c.741 p.I247 1.000 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 68 0 0.00 79 46 36.80 - - - COL6A3 0 genome.wustl.edu 37 2 238290029 238290029 + Nonsense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 2 238290029 238290029 C A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known nonsense c.1426 p.E476* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 28 0 0.00 34 13 27.66 - - - CROCCP2 0 genome.wustl.edu 37 1 16955128 16955128 + RNA SNP A A G TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 16955128 16955128 A G SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.562 - - - no_errors CROCCP2 HGNC ENSG00000215908 8 0 0.00 44 11 20.00 - - - DGKI 0 genome.wustl.edu 37 7 137092668 137092668 + Missense_Mutation SNP G G A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 7 137092668 137092668 G A SNP DGKI ENST00000424189 human ensembl 69_37n -1 known missense c.2906 p.A969V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 140 0 0.00 403 106 20.83 - - - ELTD1 0 genome.wustl.edu 37 1 79358816 79358816 + Missense_Mutation SNP A A G TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 79358816 79358816 A G SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known missense c.1808 p.L603S 0.989 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 81 0 0.00 113 28 19.86 - - - FAM22A 0 genome.wustl.edu 37 10 88988363 88988363 + Missense_Mutation SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 10 88988363 88988363 G T SNP FAM22A ENST00000451286 human ensembl 69_37n +1 known missense c.58 p.V20L 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM22A HGNC ENSG00000184923 13 0 0.00 14 7 33.33 - - - FAM9B 0 genome.wustl.edu 37 X 8998340 8998340 + Silent SNP G G A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc X 8998340 8998340 G A SNP FAM9B ENST00000327220 human ensembl 69_37n -1 known silent c.243 p.N81 0.047 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 402 0 0.00 433 183 29.66 - - - FAM9B 0 genome.wustl.edu 37 X 9000382 9000382 + Missense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc X 9000382 9000382 C A SNP FAM9B ENST00000327220 human ensembl 69_37n -1 known missense c.149 p.G50V 0.023 NULL pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 224 0 0.00 278 123 30.67 - - - GCFC1 0 genome.wustl.edu 37 21 34127560 34127560 + Silent SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 21 34127560 34127560 C T SNP GCFC1 ENST00000331923 human ensembl 69_37n -1 known silent c.1488 p.S496 1.000 NULL pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 56 0 0.00 118 50 29.59 - - - GRIN3A 0 genome.wustl.edu 37 9 104432629 104432629 + Missense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 9 104432629 104432629 C A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.2065 p.A689S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 43 0 0.00 54 49 47.57 - - - HIRA 0 genome.wustl.edu 37 22 19348811 19348811 + Silent SNP T T C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 22 19348811 19348811 T C SNP HIRA ENST00000263208 human ensembl 69_37n -1 known silent c.2034 p.A678 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 108 0 0.00 288 74 20.44 - - - KIAA1045 0 genome.wustl.edu 37 9 34976648 34976648 + Missense_Mutation SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 9 34976648 34976648 G T SNP KIAA1045 ENST00000242315 human ensembl 69_37n +1 known missense c.760 p.A254S 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 33 0 0.00 74 24 24.49 - - - KLHL22 0 genome.wustl.edu 37 22 20843516 20843516 + Missense_Mutation SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 22 20843516 20843516 C T SNP KLHL22 ENST00000444967 human ensembl 69_37n -1 putative missense c.79 p.D27N 0.004 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_stop_codon:bad_bp_length_for_coding_region KLHL22 HGNC ENSG00000099910 36 0 0.00 111 24 17.78 - - - LHFPL4 0 genome.wustl.edu 37 3 9547779 9547779 + Nonsense_Mutation SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 3 9547779 9547779 G T SNP LHFPL4 ENST00000287585 human ensembl 69_37n -1 known nonsense c.515 p.S172* 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 41 0 0.00 61 18 22.50 - - - MLANA 0 genome.wustl.edu 37 9 5892543 5892543 + Silent SNP G G A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 9 5892543 5892543 G A SNP MLANA ENST00000381471 human ensembl 69_37n +1 known silent c.69 p.T23 0.038 NULL NULL - no_errors MLANA HGNC ENSG00000120215 35 0 0.00 80 33 29.20 - - - MUC16 0 genome.wustl.edu 37 19 9091513 9091513 + Missense_Mutation SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 19 9091513 9091513 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.302 p.T101N 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 75 0 0.00 522 143 21.47 - - - NETO1 0 genome.wustl.edu 37 18 70417577 70417577 + Silent SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 18 70417577 70417577 G T SNP NETO1 ENST00000327305 human ensembl 69_37n -1 known silent c.1261 p.R421 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 112 0 0.00 192 95 33.10 - - - NRXN2 0 genome.wustl.edu 37 11 64374729 64374729 + Missense_Mutation SNP G G A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 11 64374729 64374729 G A SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known missense c.5078 p.P1693L 0.958 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 51 0 0.00 41 46 52.87 - - - ODZ1 0 genome.wustl.edu 37 X 123615786 123615786 + Missense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc X 123615786 123615786 C A SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.3745 p.A1249S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 81 0 0.00 107 55 33.95 - - - OR8H2 0 genome.wustl.edu 37 11 55873220 55873220 + Missense_Mutation SNP G G T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 11 55873220 55873220 G T SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known missense c.702 p.K234N 0.031 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 167 0 0.00 340 93 21.48 - - - PARPBP 0 genome.wustl.edu 37 12 102572481 102572481 + Missense_Mutation SNP G G C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 12 102572481 102572481 G C SNP PARPBP ENST00000358383 human ensembl 69_37n +1 known missense c.1117 p.A373P 1.000 NULL NULL - no_errors PARPBP HGNC ENSG00000185480 147 0 0.00 190 103 35.15 - - - PGAP1 0 genome.wustl.edu 37 2 197709278 197709278 + Silent SNP G G A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 2 197709278 197709278 G A SNP PGAP1 ENST00000354764 human ensembl 69_37n -1 known silent c.2307 p.S769 0.996 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 14 0 0.00 41 21 33.87 - - - PHRF1 0 genome.wustl.edu 37 11 607853 607853 + Silent SNP G G C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 11 607853 607853 G C SNP PHRF1 ENST00000264555 human ensembl 69_37n +1 known silent c.2397 p.T799 0.061 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 16 0 0.00 47 13 21.67 - - - POU4F3 0 genome.wustl.edu 37 5 145718682 145718682 + Missense_Mutation SNP G G C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 5 145718682 145718682 G C SNP POU4F3 ENST00000230732 human ensembl 69_37n +1 known missense c.7 p.A3P 0.999 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU4F3 HGNC ENSG00000091010 26 0 0.00 48 29 37.66 - - - PPM1E 0 genome.wustl.edu 37 17 57057757 57057757 + Missense_Mutation SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 17 57057757 57057757 C T SNP PPM1E ENST00000308249 human ensembl 69_37n +1 known missense c.1633 p.R545C 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 51 0 0.00 203 31 13.14 - - - PRRC2C 0 genome.wustl.edu 37 1 171527109 171527109 + Nonsense_Mutation SNP C C G TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 171527109 171527109 C G SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known nonsense c.5858 p.S1953* 0.989 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 125 0 0.00 265 81 23.41 - - - SIM1 0 genome.wustl.edu 37 6 100841453 100841453 + Missense_Mutation SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 6 100841453 100841453 C T SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known missense c.1480 p.A494T 0.950 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 23 0 0.00 59 11 15.71 - - - SIRPB1 0 genome.wustl.edu 37 20 1559200 1559200 + Missense_Mutation SNP C C A TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 20 1559200 1559200 C A SNP SIRPB1 ENST00000381605 human ensembl 69_37n -1 known missense c.217 p.A73S 0.003 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 224 0 0.00 197 151 43.27 - - - SOD2 0 genome.wustl.edu 37 6 160183182 160183182 + RNA SNP G G C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 6 160183182 160183182 G C SNP SOD2 ENST00000535372 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SOD2 HGNC ENSG00000112096 13 0 0.00 34 10 22.73 - - - USP9X 0 genome.wustl.edu 37 X 41075185 41075185 + Silent SNP T T C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc X 41075185 41075185 T C SNP USP9X ENST00000324545 human ensembl 69_37n +1 known silent c.5365 p.L1789 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 63 0 0.00 87 49 36.03 - - - YEATS2 0 genome.wustl.edu 37 3 183442226 183442226 + Missense_Mutation SNP G G C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 3 183442226 183442226 G C SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.557 p.G186A 0.807 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 108 0 0.00 177 65 26.86 - - - ZFYVE9 0 genome.wustl.edu 37 1 52811772 52811772 + Missense_Mutation SNP C C T TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0ca029bb-3b3a-48ec-8ade-5591e8e8629f 2c1a2795-e195-4f8d-a062-373aab5c50fc 1 52811772 52811772 C T SNP ZFYVE9 ENST00000287727 human ensembl 69_37n +1 known missense c.4157 p.S1386L 0.998 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 73 0 0.00 46 104 69.33 - - -