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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val PRIM2 0 genome.wustl.edu 37 6 57244708 57244730 + Frame_Shift_Del DEL GAAGAGAAGACTCTTCGAGAACA GAAGAGAAGACTCTTCGAGAACA - TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 GAAGAGAAGACTCTTCGAGAACA GAAGAGAAGACTCTTCGAGAACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 6 57244708 57244730 GAAGAGAAGACTCTTCGAGAACA - DEL PRIM2 ENST00000607273 human ensembl 74_37 +1 known frame_shift_del c.469_491 p.E157fs 0.969:0.974:0.973:0.998:1.000:0.995:0.997:0.988:0.957:0.200:0.000:0.000:0.000:0.000:0.000:0.155:0.176:0.222:0.283:0.274:0.142:0.120:0.114 NULL pfam_D_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 AADACL4 0 genome.wustl.edu 37 1 12704626 12704626 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 12704626 12704626 G T SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known missense c.61 p.V21F 0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 tier1 rs201386716 GMAF=0 114 0 0.00 99 40 28.78 NDUFS2 0 genome.wustl.edu 37 1 161184059 161184060 + R INS - - TGTGTG TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 161184059 161184060 - TGTGTG INS NDUFS2 ENST00000465923 human ensembl 74_37 +1 known rna NULL NULL 0.811:0.953 - - - no_errors NDUFS2 HGNC ENSG00000158864 tier1 DPM3 0 genome.wustl.edu 37 1 155112582 155112600 + Frame_Shift_Del DEL CAAGTAGGCGGGCAGTGGC CAAGTAGGCGGGCAGTGGC - TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 CAAGTAGGCGGGCAGTGGC CAAGTAGGCGGGCAGTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 155112582 155112600 CAAGTAGGCGGGCAGTGGC - DEL DPM3 ENST00000341298 human ensembl 74_37 -1 known frame_shift_del c.135_117 p.W39fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:0.996:0.988:1.000:1.000:1.000 pfam_DPM3 pfam_DPM3 - no_errors DPM3 HGNC ENSG00000179085 tier1 PRSS53 0 genome.wustl.edu 37 16 31097417 31097417 + Nonsense_Mutation SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 16 31097417 31097417 G A SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known nonsense c.751 p.Q251* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 tier1 - - 56 0 0.00 18 12 40.00 ENSG00000273312 0 genome.wustl.edu 37 10 35896211 35896212 + R INS - - TGCTCT TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 10 35896211 35896212 - TGCTCT INS ENSG00000273312 ENST00000609313 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-425A6.5 Clone_based_vega_gene ENSG00000273312 tier1 KIAA1045 0 genome.wustl.edu 37 9 34971603 34971603 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 9 34971603 34971603 C T SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.308 p.A103V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 tier1 - - 33 0 0.00 19 15 44.12 SMARCAL1 0 genome.wustl.edu 37 2 217340155 217340155 + Missense_Mutation SNP A A G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 2 217340155 217340155 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.2408 p.E803G 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_HARP_dom,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 SMARCAL1 HGNC ENSG00000138375 tier1 - - 63 0 0.00 19 27 58.70 NOS1 0 genome.wustl.edu 37 12 117768721 117768721 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 12 117768721 117768721 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.154 p.A52T 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 65 0 0.00 11 13 54.17 ZFHX4 0 genome.wustl.edu 37 8 77767606 77767606 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 8 77767606 77767606 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8449 p.D2817Y 1.000 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 ZFHX4 HGNC ENSG00000091656 tier1 - - 33 0 0.00 30 4 11.76 BMS1P8 0 genome.wustl.edu 37 16 33497291 33497291 + R SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 16 33497291 33497291 G A SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 0.227 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 rs201348007 - 57 0 0.00 42 5 10.64 IFNE 0 genome.wustl.edu 37 9 21481376 21481376 + Silent SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 9 21481376 21481376 C T SNP IFNE ENST00000448696 human ensembl 74_37 -1 known silent c.318 p.T106 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 tier1 - - 30 0 0.00 16 18 52.94 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 CD276 0 genome.wustl.edu 37 15 73994860 73994860 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 15 73994860 73994860 C T SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.344 p.A115V 0.959 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 tier1 - - 95 0 0.00 41 26 38.81 ZNF679 0 genome.wustl.edu 37 7 63727246 63727246 + Nonstop_Mutation SNP A A C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 7 63727246 63727246 A C SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known nonstop c.1235 p.*412S 0.004 NULL 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 ZNF679 HGNC ENSG00000197123 tier1 - - 27 0 0.00 27 14 34.15 CCDC91 0 genome.wustl.edu 37 12 28459799 28459799 + Missense_Mutation SNP A A T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 12 28459799 28459799 A T SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known missense c.392 p.N131I 0.934 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 tier1 - - 35 0 0.00 9 11 55.00 USP4 0 genome.wustl.edu 37 3 49363168 49363168 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 3 49363168 49363168 G T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.471 p.S157R 1.000 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 tier1 - - 69 0 0.00 35 4 10.26 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 68 0 0.00 5 64 92.75 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234963 + R DEL A A - TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 3 146234963 146234963 A - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163 - - - no_errors PLSCR1 HGNC ENSG00000188313 tier1 23 0 0.00 23 4 14.81 ZNF175 0 genome.wustl.edu 37 19 52090454 52090454 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 19 52090454 52090454 G T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.870 p.Q290H 0.000 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 ZNF175 HGNC ENSG00000105497 tier1 - - 32 0 0.00 9 18 66.67 ADAMTSL4 0 genome.wustl.edu 37 1 150524368 150524368 + R DEL A A - TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 150524368 150524368 A - DEL ADAMTSL4 ENST00000483335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 25 0 0.00 20 6 23.08 SHROOM2 0 genome.wustl.edu 37 X 9905320 9905320 + Missense_Mutation SNP A A T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 X 9905320 9905320 A T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3734 p.D1245V 0.991 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 96 0 0.00 42 26 38.24 C6orf15 0 genome.wustl.edu 37 6 31079360 31079360 + Missense_Mutation SNP C C G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 6 31079360 31079360 C G SNP C6orf15 ENST00000259870 human ensembl 74_37 -1 known missense c.776 p.G259A 0.000 NULL NULL - no_errors C6orf15 HGNC ENSG00000204542 tier1 - - 35 0 0.00 44 4 8.33 VPS16 0 genome.wustl.edu 37 20 2845867 2845867 + Missense_Mutation SNP A A G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 20 2845867 2845867 A G SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.2078 p.D693G 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 31 0 0.00 14 20 58.82 ATP2B1 0 genome.wustl.edu 37 12 89997635 89997635 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 12 89997635 89997635 G T SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.2702 p.A901D 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 tier1 - - 66 0 0.00 38 4 9.52 HELZ2 0 genome.wustl.edu 37 20 62202709 62202709 + R SNP C C A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 20 62202709 62202709 C A SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.865 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 29 0 0.00 30 6 16.67 ADK 0 genome.wustl.edu 37 10 76154021 76154021 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 10 76154021 76154021 G T SNP ADK ENST00000286621 human ensembl 74_37 +1 known missense c.396 p.Q132H 1.000 pfam_PfkB_dom pfam_PfkB_dom,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 tier1 - - 34 0 0.00 19 3 13.64 VCPIP1 0 genome.wustl.edu 37 8 67577245 67577245 + Missense_Mutation SNP G G C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 8 67577245 67577245 G C SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1949 p.T650S 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 tier1 - - 41 0 0.00 32 24 42.86 MAGEL2 0 genome.wustl.edu 37 15 23890948 23890948 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 15 23890948 23890948 G T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.133 p.P45T 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 34 0 0.00 7 15 68.18 OR1S2 0 genome.wustl.edu 37 11 57970682 57970682 + Silent SNP G G C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 11 57970682 57970682 G C SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known silent c.972 p.S324 0.023 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 tier1 - - 42 0 0.00 2 10 83.33 C21orf49 0 genome.wustl.edu 37 21 34157085 34157086 + Splice_Site INS - - T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 21 34157085 34157086 - T INS C21orf49 ENST00000454365 human ensembl 74_37 +1 known splice_site_ins c.1-1_0 e1-1 0.122:0.122 - - - no_errors C21orf49 HGNC ENSG00000205930 tier1 22 0 0.00 32 4 11.11 GSTM5 0 genome.wustl.edu 37 1 110257879 110257879 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 110257879 110257879 C T SNP GSTM5 ENST00000369813 human ensembl 74_37 +1 known missense c.461 p.S154F 0.000 NULL pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 109 0 0.00 74 38 33.93 ZNF337 0 genome.wustl.edu 37 20 25657393 25657393 + Nonsense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 20 25657393 25657393 C T SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known nonsense c.531 p.W177* 0.666 NULL 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 ZNF337 HGNC ENSG00000130684 tier1 - - 82 0 0.00 47 41 46.59 HSPA6 0 genome.wustl.edu 37 1 161494965 161494965 + Silent SNP C C A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 161494965 161494965 C A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.517 p.R173 0.998 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 tier1 - - 52 0 0.00 21 23 52.27 COL4A6 0 genome.wustl.edu 37 X 107422569 107422569 + Missense_Mutation SNP C C G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 X 107422569 107422569 C G SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.2234 p.G745A 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 68 0 0.00 11 23 67.65 KALRN 0 genome.wustl.edu 37 3 124376359 124376359 + Missense_Mutation SNP T T A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 3 124376359 124376359 T A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5924 p.V1975E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 41 0 0.00 34 13 27.66 ESPN 0 genome.wustl.edu 37 1 6521041 6521041 + Splice_Site SNP G G C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 6521041 6521041 G C SNP ESPN ENST00000468561 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors ESPN HGNC ENSG00000187017 tier1 - - 30 0 0.00 19 6 24.00 MED12 0 genome.wustl.edu 37 X 70339254 70339254 + Missense_Mutation SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 X 70339254 70339254 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.131 p.G44D 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 rs199469672 - 43 0 0.00 8 25 75.76 BAG6 0 genome.wustl.edu 37 6 31613261 31613261 + Nonsense_Mutation SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 6 31613261 31613261 G A SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known nonsense c.1039 p.R347* 1.000 pfam_DUF3538 pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 - - 35 0 0.00 33 7 17.50 ENSG00000259455 0 genome.wustl.edu 37 15 23407257 23407257 + Missense_Mutation SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 15 23407257 23407257 G A SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.1579 p.R527W 0.125 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 35 0 0.00 19 4 17.39 TIE1 0 genome.wustl.edu 37 1 43779614 43779614 + Missense_Mutation SNP G G C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 43779614 43779614 G C SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2384 p.R795P 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 60 0 0.00 54 11 16.92 ENSG00000221810 0 genome.wustl.edu 37 5 92053145 92053146 + R INS - - TGTGTGTG TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 5 92053145 92053146 - TGTGTGTG INS ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.002 - - - no_errors AC026781.1 Clone_based_ensembl_gene ENSG00000221810 tier1 HCK 0 genome.wustl.edu 37 20 30681783 30681783 + Missense_Mutation SNP C C T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 20 30681783 30681783 C T SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.1210 p.R404W 0.714 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 tier1 rs145632103 - 56 0 0.00 24 29 54.72 SPATA31A3 0 genome.wustl.edu 37 9 40705285 40705285 + Missense_Mutation SNP A A G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 9 40705285 40705285 A G SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known missense c.2942 p.E981G 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 tier1 - - 13 0 0.00 3 8 72.73 PTCRA 0 genome.wustl.edu 37 6 42893006 42893006 + Silent SNP G G A TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 6 42893006 42893006 G A SNP PTCRA ENST00000304672 human ensembl 74_37 +1 known silent c.432 p.P144 0.000 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 tier1 - - 23 0 0.00 16 10 38.46 SNX6 0 genome.wustl.edu 37 14 35037108 35037108 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 14 35037108 35037108 G T SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known missense c.1069 p.Q357K 1.000 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 tier1 - - 59 0 0.00 21 15 41.67 OR14A2 0 genome.wustl.edu 37 1 247886543 247886543 + Missense_Mutation SNP A A G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 247886543 247886543 A G SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.803 p.I268T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A2 HGNC ENSG00000241128 tier1 - - 38 0 0.00 15 22 59.46 HS3ST3A1 0 genome.wustl.edu 37 17 13400122 13400122 + Missense_Mutation SNP T T C TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 17 13400122 13400122 T C SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.613 p.R205G 0.799 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 tier1 - - 46 0 0.00 3 29 90.62 SULT1B1 0 genome.wustl.edu 37 4 70596312 70596312 + Missense_Mutation SNP A A G TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 4 70596312 70596312 A G SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.685 p.S229P 0.939 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 tier1 - - 41 0 0.00 33 13 28.26 ENSG00000269890 0 genome.wustl.edu 37 1 228459496 228459496 + R SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 1 228459496 228459496 G T SNP ENSG00000269890 ENST00000602517 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1139B12.2 Clone_based_vega_gene ENSG00000269890 tier1 - - 28 0 0.00 13 3 18.75 CBLN1 0 genome.wustl.edu 37 16 49314890 49314891 + Frame_Shift_Ins INS - - T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b19eac77-0659-4b1a-ac98-c04fa531d8a9 e6329e87-a8a3-480f-b4f1-223b9c39fa43 16 49314890 49314891 - T INS CBLN1 ENST00000219197 human ensembl 74_37 -1 known frame_shift_ins c.328_327 p.G109fs 1.000:1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 tier1 61 0 0.00 18 2 10.00