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 ANKRD36BP2 0 genome.wustl.edu 37 2 89104384 89104384 + RNA SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 2 89104384 89104384 G A SNP ANKRD36BP2 ENST00000393515 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 33 0 0.00 25 6 19.35 - - - C16orf62 0 genome.wustl.edu 37 16 19702725 19702727 + In_Frame_Del DEL AAC AAC - TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 16 19702725 19702727 AAC - DEL C16orf62 ENST00000438132 human ensembl 69_37n +1 known in_frame_del c.2845_2847 p.N950in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 35 0 0.00 25 19 42.22 - - - CD1E 0 genome.wustl.edu 37 1 158326619 158326619 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 158326619 158326619 C T SNP CD1E ENST00000368167 human ensembl 69_37n +1 known missense c.1100 p.A367V 0.002 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 272 0 0.00 256 48 15.79 - - - CELA2B 0 genome.wustl.edu 37 1 15802970 15802970 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 15802970 15802970 C T SNP CELA2B ENST00000375910 human ensembl 69_37n +1 known missense c.59 p.S20F 0.970 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 76 0 0.00 53 23 30.26 - - - CLCA2 0 genome.wustl.edu 37 1 86894174 86894174 + Missense_Mutation SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 86894174 86894174 G A SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known missense c.398 p.G133E 1.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 197 0 0.00 141 33 18.97 - - - COL27A1 0 genome.wustl.edu 37 9 116930357 116930357 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 9 116930357 116930357 C T SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known silent c.522 p.C174 0.992 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 23 0 0.00 14 9 39.13 - - - DAB2IP 0 genome.wustl.edu 37 9 124519319 124519319 + Silent SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 9 124519319 124519319 G A SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known silent c.390 p.E130 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 32 0 0.00 12 4 25.00 - - - EIF4A2 0 genome.wustl.edu 37 3 186503952 186503952 + Splice_Site SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 3 186503952 186503952 G A SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known splice_site c.521-1 e6-1 1.000 - - - no_errors EIF4A2 HGNC ENSG00000156976 99 0 0.00 53 22 29.33 - - - ERBB2 0 genome.wustl.edu 37 17 37881332 37881332 + Missense_Mutation SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 17 37881332 37881332 G A SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2524 p.V842I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 79 0 0.00 19 14 41.18 - - - FAM48A 0 genome.wustl.edu 37 13 37584782 37584782 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 13 37584782 37584782 C T SNP FAM48A ENST00000469488 human ensembl 69_37n -1 putative missense c.737 p.S246N 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM48A HGNC ENSG00000102710 94 0 0.00 45 15 25.00 - - - FAT3 0 genome.wustl.edu 37 11 92087511 92087511 + Missense_Mutation SNP A A T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 11 92087511 92087511 A T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.2233 p.I745F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 428 0 0.00 204 113 35.65 - - - FLI1 0 genome.wustl.edu 37 11 128680832 128680832 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 11 128680832 128680832 C T SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known silent c.1308 p.V436 0.765 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 296 0 0.00 115 44 27.67 - - - HCFC1 0 genome.wustl.edu 37 X 153224817 153224817 + Missense_Mutation SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a X 153224817 153224817 G A SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.1570 p.R524W 0.999 smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 76 0 0.00 21 16 43.24 - - - KIAA1804 0 genome.wustl.edu 37 1 233518401 233518401 + Missense_Mutation SNP A A G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 233518401 233518401 A G SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known missense c.3055 p.R1019G 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 159 0 0.00 169 43 20.28 - - - LHX9 0 genome.wustl.edu 37 1 197889140 197889140 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 197889140 197889140 C T SNP LHX9 ENST00000367387 human ensembl 69_37n +1 known silent c.213 p.C71 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX9 HGNC ENSG00000143355 85 0 0.00 51 14 21.54 - - - MAP3K1 0 genome.wustl.edu 37 5 56177537 56177538 + Frame_Shift_Del DEL TG TG - TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 5 56177537 56177538 TG - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2510_2511 p.L838fs 1.000:0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 279 0 0.00 144 63 30.14 - - - MAP3K1 0 genome.wustl.edu 37 5 56178169 56178169 + Nonsense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 5 56178169 56178169 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.3142 p.Q1048* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 304 0 0.00 134 62 31.63 - - - MST1P9 0 genome.wustl.edu 37 1 17085006 17085006 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 1 17085006 17085006 C T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known missense c.1469 p.G490E 0.998 superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 103 1 0.96 47 8 14.55 - - - NR1H2 0 genome.wustl.edu 37 19 50882307 50882307 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 19 50882307 50882307 C T SNP NR1H2 ENST00000253727 human ensembl 69_37n +1 known missense c.796 p.R266C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt 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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 50 0 0.00 24 16 40.00 - - - PCDHGA5 0 genome.wustl.edu 37 5 140744719 140744719 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 5 140744719 140744719 C T SNP PCDHGA5 ENST00000518069 human ensembl 69_37n +1 known silent c.822 p.N274 0.266 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 119 1 0.83 51 16 23.88 - - - PDE6C 0 genome.wustl.edu 37 10 95380689 95380689 + Missense_Mutation SNP G G T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 10 95380689 95380689 G T SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known missense c.675 p.R225S 0.976 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 1250 0 0.00 889 398 30.92 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 252 0 0.00 131 52 28.42 - - - RAD17 0 genome.wustl.edu 37 5 68684870 68684870 + Missense_Mutation SNP A A G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 5 68684870 68684870 A G SNP RAD17 ENST00000380774 human ensembl 69_37n +1 known missense c.937 p.K313E 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 63 0 0.00 36 18 33.33 - - - RFC1 0 genome.wustl.edu 37 4 39308302 39308302 + Silent SNP G G A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 4 39308302 39308302 G A SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known silent c.1908 p.S636 0.022 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 81 0 0.00 55 10 15.15 - - - RS1 0 genome.wustl.edu 37 X 18662718 18662718 + Missense_Mutation SNP G G C TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a X 18662718 18662718 G C SNP RS1 ENST00000379984 human ensembl 69_37n -1 known missense c.354 p.D118E 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 191 0 0.00 225 25 10.00 - - - RTN4RL2 0 genome.wustl.edu 37 11 57235333 57235333 + Missense_Mutation SNP T T A TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 11 57235333 57235333 T A SNP RTN4RL2 ENST00000335099 human ensembl 69_37n +1 known missense c.283 p.S95T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 213 0 0.00 88 39 30.71 - - - RUNX1 0 genome.wustl.edu 37 21 36252856 36252857 + Frame_Shift_Ins INS - - T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 21 36252856 36252857 - T INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.506_505 p.R169fs 1.000:0.998 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 108 0 0.00 43 15 25.86 - - - SLC4A3 0 genome.wustl.edu 37 2 220504281 220504282 + Frame_Shift_Ins INS - - G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 2 220504281 220504282 - G INS SLC4A3 ENST00000273063 human ensembl 69_37n +1 known frame_shift_ins c.3182_3183 p.L1064fs 1.000:1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 53 0 0.00 39 6 13.33 - - - TBL1XR1 0 genome.wustl.edu 37 3 176771560 176771560 + Splice_Site SNP C C G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 3 176771560 176771560 C G SNP TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known splice_site c.204+1 e2+1 1.000 - - - no_errors TBL1XR1 HGNC ENSG00000177565 122 0 0.00 87 40 31.50 - - - TPM1 0 genome.wustl.edu 37 15 63353074 63353074 + Missense_Mutation SNP C C G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 15 63353074 63353074 C G SNP TPM1 ENST00000267996 human ensembl 69_37n +1 known missense c.499 p.R167G 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 59 0 0.00 27 9 25.00 - - - USP13 0 genome.wustl.edu 37 3 179478911 179478911 + Missense_Mutation SNP G G C TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 3 179478911 179478911 G C SNP USP13 ENST00000263966 human ensembl 69_37n +1 known missense c.1960 p.D654H 1.000 pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP13 HGNC ENSG00000058056 151 0 0.00 68 31 31.31 - - - USP29 0 genome.wustl.edu 37 19 57640254 57640254 + Missense_Mutation SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 19 57640254 57640254 C T SNP USP29 ENST00000254181 human ensembl 69_37n +1 known missense c.211 p.H71Y 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 93 0 0.00 140 17 10.83 - - - WDR67 0 genome.wustl.edu 37 8 124132397 124132397 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96afb6d0-29ea-4bd5-8a9d-130e42954707 35c8c6d8-68b5-4175-9d5b-2859dc94a67a 8 124132397 124132397 C T SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known silent c.1539 p.L513 1.000 pfam_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 43 0 0.00 33 14 29.79 - - -