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 ADGB 0 genome.wustl.edu 37 6 147047304 147047304 + Missense_Mutation SNP G G A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 6 147047304 147047304 G A SNP ADGB ENST00000397944 human ensembl 69_37n +1 known missense c.2323 p.E775K 1.000 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 149 0 0.00 225 47 17.28 - - - ADPRHL1 0 genome.wustl.edu 37 13 114088101 114088101 + Frame_Shift_Del DEL T T - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 13 114088101 114088101 T - DEL ADPRHL1 ENST00000375418 human ensembl 69_37n -1 known frame_shift_del c.461 p.E154fs 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 11 0 0.00 7 5 41.67 - - - AP1G2 0 genome.wustl.edu 37 14 24035597 24035597 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 14 24035597 24035597 C T SNP AP1G2 ENST00000308724 human ensembl 69_37n -1 known missense c.361 p.G121S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 180 0 0.00 108 27 20.00 - - - APBA1 0 genome.wustl.edu 37 9 72047583 72047584 + Frame_Shift_Ins INS - - A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 9 72047583 72047584 - A INS APBA1 ENST00000265381 human ensembl 69_37n -1 known frame_shift_ins c.2311_2310 p.L770fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 139 0 0.00 48 25 34.25 - - - APBA1 0 genome.wustl.edu 37 9 72047585 72047586 + Frame_Shift_Ins INS - - T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 9 72047585 72047586 - T INS APBA1 ENST00000265381 human ensembl 69_37n -1 known frame_shift_ins c.2309_2308 p.S770fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 137 0 0.00 41 25 37.88 - - - ARHGAP23 0 genome.wustl.edu 37 17 36646353 36646353 + Missense_Mutation SNP C C A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 17 36646353 36646353 C A SNP ARHGAP23 ENST00000431231 human ensembl 69_37n +1 known missense c.2997 p.N999K 0.031 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 82 0 0.00 38 9 19.15 - - - ATHL1 0 genome.wustl.edu 37 11 289844 289844 + Missense_Mutation SNP A A C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 11 289844 289844 A C SNP ATHL1 ENST00000409548 human ensembl 69_37n +1 known missense c.28 p.T10P 0.000 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 21 0 0.00 19 4 17.39 - - - BANP 0 genome.wustl.edu 37 16 88066806 88066806 + Frame_Shift_Del DEL G G - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 16 88066806 88066806 G - DEL BANP ENST00000286122 human ensembl 69_37n +1 known frame_shift_del c.1131 p.Q377fs 1.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 47 0 0.00 39 26 39.39 - - - BDKRB2 0 genome.wustl.edu 37 14 96707798 96707798 + Missense_Mutation SNP G G T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 14 96707798 96707798 G T SNP BDKRB2 ENST00000306005 human ensembl 69_37n +1 known missense c.1133 p.R378L 0.001 prints_B2_bradkn_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 75 0 0.00 41 19 31.15 - - - C16orf48 0 genome.wustl.edu 37 16 67697662 67697663 + Frame_Shift_Ins INS - - G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 16 67697662 67697663 - G INS C16orf48 ENST00000243878 human ensembl 69_37n -1 known frame_shift_ins c.641_640 p.R214fs 1.000:1.000 NULL NULL - no_errors C16orf48 HGNC ENSG00000124074 35 0 0.00 27 3 10.00 - - - C1orf50 0 genome.wustl.edu 37 1 43232996 43232996 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 43232996 43232996 C T SNP C1orf50 ENST00000372525 human ensembl 69_37n +1 known missense c.14 p.A5V 0.000 NULL pfam_DUF2452,superfamily_Cytidine_deaminase-like - no_errors C1orf50 HGNC ENSG00000164008 35 0 0.00 9 6 40.00 - - - CALCRL 0 genome.wustl.edu 37 2 188211077 188211077 + Missense_Mutation SNP C C G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 2 188211077 188211077 C G SNP CALCRL ENST00000392370 human ensembl 69_37n -1 known missense c.1220 p.G407A 1.000 prints_GPCR_2_CGRP1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 148 0 0.00 97 44 31.21 - - - CALU 0 genome.wustl.edu 37 7 128388708 128388708 + Missense_Mutation SNP A A G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 7 128388708 128388708 A G SNP CALU ENST00000542996 human ensembl 69_37n +1 known missense c.95 p.K32R 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALU HGNC ENSG00000128595 95 0 0.00 60 27 31.03 - - - CAMSAP1 0 genome.wustl.edu 37 9 138710894 138710894 + Missense_Mutation SNP C C A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 9 138710894 138710894 C A SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known missense c.3954 p.Q1318H 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 36 0 0.00 11 4 26.67 - - - CCNO 0 genome.wustl.edu 37 5 54528374 54528374 + Frame_Shift_Del DEL C C - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 5 54528374 54528374 C - DEL CCNO ENST00000282572 human ensembl 69_37n -1 known frame_shift_del c.382 p.V128fs 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC ENSG00000152669 16 0 0.00 9 6 40.00 - - - CEP164 0 genome.wustl.edu 37 11 117252486 117252487 + Frame_Shift_Ins INS - - C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 11 117252486 117252487 - C INS CEP164 ENST00000278935 human ensembl 69_37n +1 known frame_shift_ins c.1479_1480 p.P494fs 0.299:0.293 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 57 0 0.00 16 2 11.11 - - - CPXCR1 0 genome.wustl.edu 37 X 88008777 88008777 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 X 88008777 88008777 C T SNP CPXCR1 ENST00000276127 human ensembl 69_37n +1 known missense c.362 p.A121V 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 110 0 0.00 107 32 23.02 - - - CSMD2 0 genome.wustl.edu 37 1 34011643 34011644 + Frame_Shift_Ins INS - - TG TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 34011643 34011644 - TG INS CSMD2 ENST00000373381 human ensembl 69_37n -1 known frame_shift_ins c.9094_9093 p.C3031fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 62 0 0.00 39 48 55.17 - - - CSMD2 0 genome.wustl.edu 37 1 34011645 34011646 + Frame_Shift_Ins INS - - C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 34011645 34011646 - C INS CSMD2 ENST00000373381 human ensembl 69_37n -1 known frame_shift_ins c.9092_9091 p.E3031fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 65 0 0.00 38 49 56.32 - - - DVL1 0 genome.wustl.edu 37 1 1275142 1275142 + Silent SNP C C A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 1275142 1275142 C A SNP DVL1 ENST00000378888 human ensembl 69_37n -1 known silent c.960 p.V320 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_1,prints_Dishevelled - no_errors DVL1 HGNC ENSG00000107404 18 0 0.00 15 6 28.57 - - - DYNC1LI2 0 genome.wustl.edu 37 16 66766320 66766320 + Missense_Mutation SNP T T C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 16 66766320 66766320 T C SNP DYNC1LI2 ENST00000258198 human ensembl 69_37n -1 known missense c.851 p.Y284C 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI2 HGNC ENSG00000135720 138 1 0.72 89 31 25.83 - - - EGR3 0 genome.wustl.edu 37 8 22548865 22548865 + Frame_Shift_Del DEL G G - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 8 22548865 22548865 G - DEL EGR3 ENST00000317216 human ensembl 69_37n -1 known frame_shift_del c.285 p.N96fs 1.000 pfam_DUF3446 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 32 0 0.00 8 10 52.63 - - - ENPP2 0 genome.wustl.edu 37 8 120594788 120594788 + Missense_Mutation SNP T T C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 8 120594788 120594788 T C SNP ENPP2 ENST00000259486 human ensembl 69_37n -1 known missense c.1754 p.H585R 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 143 0 0.00 144 32 18.18 - - - GALNT6 0 genome.wustl.edu 37 12 51751160 51751160 + Frame_Shift_Del DEL G G - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 12 51751160 51751160 G - DEL GALNT6 ENST00000356317 human ensembl 69_37n -1 known frame_shift_del c.1575 p.S526fs 0.082 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 113 0 0.00 56 40 41.24 - - - GALNT6 0 genome.wustl.edu 37 12 51751164 51751164 + Frame_Shift_Del DEL A A - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 12 51751164 51751164 A - DEL GALNT6 ENST00000356317 human ensembl 69_37n -1 known frame_shift_del c.1571 p.M524fs 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 118 0 0.00 55 42 42.00 - - - HEPACAM2 0 genome.wustl.edu 37 7 92844993 92844994 + Frame_Shift_Ins INS - - T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 7 92844993 92844994 - T INS HEPACAM2 ENST00000394468 human ensembl 69_37n -1 known frame_shift_ins c.436_435 p.V145fs 1.000:0.997 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC ENSG00000188175 142 0 0.00 204 26 11.30 - - - HRH1 0 genome.wustl.edu 37 3 11301157 11301157 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 3 11301157 11301157 C T SNP HRH1 ENST00000397056 human ensembl 69_37n +1 known missense c.434 p.S145L 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH1 HGNC ENSG00000196639 78 0 0.00 42 14 24.56 - - - IPO8 0 genome.wustl.edu 37 12 30822138 30822138 + Missense_Mutation SNP C C G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 12 30822138 30822138 C G SNP IPO8 ENST00000256079 human ensembl 69_37n -1 known missense c.1123 p.E375Q 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 163 0 0.00 128 114 46.91 - - - KIAA0232 0 genome.wustl.edu 37 4 6863013 6863013 + Frame_Shift_Del DEL A A - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 4 6863013 6863013 A - DEL KIAA0232 ENST00000307659 human ensembl 69_37n +1 known frame_shift_del c.904 p.N302fs 0.896 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 54 0 0.00 46 6 11.54 - - - LDB2 0 genome.wustl.edu 37 4 16597371 16597371 + Missense_Mutation SNP G G T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 4 16597371 16597371 G T SNP LDB2 ENST00000304523 human ensembl 69_37n -1 known missense c.363 p.D121E 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 153 0 0.00 69 32 31.68 - - - MRPL24 0 genome.wustl.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 156708444 156708445 - G INS MRPL24 ENST00000361531 human ensembl 69_37n -1 known frame_shift_ins c.53_52 p.H18fs 0.438:0.034 NULL pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 54 0 0.00 36 4 10.00 - - - NBPF14 0 genome.wustl.edu 37 1 148017589 148017589 + Missense_Mutation SNP G G A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 148017589 148017589 G A SNP NBPF14 ENST00000369219 human ensembl 69_37n -1 known missense c.694 p.P232S 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 1044 1 0.10 649 235 26.49 - - - NEB 0 genome.wustl.edu 37 2 152420119 152420119 + Splice_Site SNP C C A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 2 152420119 152420119 C A SNP NEB ENST00000397345 human ensembl 69_37n -1 known splice_site c.18693+1 e117+1 1.000 - - - no_errors NEB HGNC ENSG00000183091 306 2 0.65 196 84 30.00 - - - NES 0 genome.wustl.edu 37 1 156639945 156639945 + Silent SNP T T G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 156639945 156639945 T G SNP NES ENST00000368223 human ensembl 69_37n -1 known silent c.4035 p.P1345 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 55 0 0.00 29 7 19.44 - - - NOL8 0 genome.wustl.edu 37 9 95077554 95077554 + Silent SNP A A C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 9 95077554 95077554 A C SNP NOL8 ENST00000442668 human ensembl 69_37n -1 known silent c.1353 p.S451 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 139 0 0.00 62 36 36.36 - - - NR1H4 0 genome.wustl.edu 37 12 100928730 100928730 + Missense_Mutation SNP G G C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 12 100928730 100928730 G C SNP NR1H4 ENST00000551379 human ensembl 69_37n +1 known missense c.691 p.D231H 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 97 0 0.00 72 39 35.14 - - - NT5C1A 0 genome.wustl.edu 37 1 40124845 40124846 + Frame_Shift_Del DEL GC GC - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 40124845 40124846 GC - DEL NT5C1A ENST00000235628 human ensembl 69_37n -1 known frame_shift_del c.1055_1054 p.A352fs 1.000:1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 45 0 0.00 27 27 50.00 - - - NXF1 0 genome.wustl.edu 37 11 62572890 62572890 + RNA SNP T T C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 11 62572890 62572890 T C SNP NXF1 ENST00000526163 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NXF1 HGNC ENSG00000162231 31 0 0.00 14 6 30.00 - - - P2RX5 0 genome.wustl.edu 37 17 3592830 3592830 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 17 3592830 3592830 C T SNP P2RX5 ENST00000435558 human ensembl 69_37n -1 known missense c.709 p.V237M 0.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 56 0 0.00 15 8 34.78 - - - PIP4K2A 0 genome.wustl.edu 37 10 22880688 22880688 + Missense_Mutation SNP G G T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 10 22880688 22880688 G T SNP PIP4K2A ENST00000376573 human ensembl 69_37n -1 known missense c.362 p.P121H 1.000 smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 118 0 0.00 61 27 30.34 - - - PLA2G15 0 genome.wustl.edu 37 16 68289854 68289855 + Frame_Shift_Ins INS - - G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 16 68289854 68289855 - G INS PLA2G15 ENST00000219345 human ensembl 69_37n +1 known frame_shift_ins c.688_689 p.V233fs 1.000:1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 29 0 0.00 25 4 13.79 - - - PXDN 0 genome.wustl.edu 37 2 1684022 1684023 + Frame_Shift_Ins INS - - AT TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 2 1684022 1684023 - AT INS PXDN ENST00000252804 human ensembl 69_37n -1 known frame_shift_ins c.673_672 p.P224fs 0.996:0.310 smart_Cys-rich_flank_reg_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 161 0 0.00 115 32 21.77 - - - RGPD4 0 genome.wustl.edu 37 2 108496541 108496541 + Missense_Mutation SNP C C A TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 2 108496541 108496541 C A SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.5042 p.A1681E 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 573 1 0.17 449 57 11.26 - - - RNF213 0 genome.wustl.edu 37 17 78346457 78346457 + Missense_Mutation SNP A A C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 17 78346457 78346457 A C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.12674 p.Y4225S 0.998 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 33 0 0.00 25 6 18.75 - - - SOX6 0 genome.wustl.edu 37 11 16007966 16007966 + Missense_Mutation SNP C C T TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 11 16007966 16007966 C T SNP SOX6 ENST00000352083 human ensembl 69_37n -1 known missense c.1967 p.G656E 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC ENSG00000110693 120 0 0.00 158 47 22.93 - - - TCEB3B 0 genome.wustl.edu 37 18 44559482 44559483 + In_Frame_Ins INS - - TAT TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 18 44559482 44559483 - TAT INS TCEB3B ENST00000332567 human ensembl 69_37n -1 known in_frame_ins c.2154_2153 p.N718in_frame_insKY 0.000:0.057 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 80 0 0.00 62 48 43.64 - - - TIAM2 0 genome.wustl.edu 37 6 155571033 155571035 + In_Frame_Del DEL AGA AGA - TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 6 155571033 155571035 AGA - DEL TIAM2 ENST00000456144 human ensembl 69_37n +1 known in_frame_del c.3881_3883 p.K1295in_frame_del 1.000:1.000:1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 144 0 0.00 92 23 19.66 - - - TMCO4 0 genome.wustl.edu 37 1 20027296 20027297 + Frame_Shift_Ins INS - - G TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 20027296 20027297 - G INS TMCO4 ENST00000294543 human ensembl 69_37n -1 known frame_shift_ins c.1347_1346 p.K449fs 1.000:1.000 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 77 0 0.00 50 24 32.43 - - - TNC 0 genome.wustl.edu 37 9 117838681 117838681 + Missense_Mutation SNP T T C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 9 117838681 117838681 T C SNP TNC ENST00000350763 human ensembl 69_37n -1 known missense c.2848 p.T950A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 366 0 0.00 248 73 22.46 - - - WDR64 0 genome.wustl.edu 37 1 241823900 241823900 + Missense_Mutation SNP G G C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3669bbbd-2e75-4b57-a5a8-8eebc25a97c2 f2467587-34f3-406d-8b3a-143c1bb52667 1 241823900 241823900 G C SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known missense c.214 p.D72H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 200 0 0.00 163 232 58.44 - - -