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 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022880 99022880 + Silent SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 7 99022880 99022880 G A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known silent c.1422 p.A474 0.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 tier1 - - 22 0 0.00 17 14 45.16 47 0 0.00 36 14 28.00 TNFRSF9 0 genome.wustl.edu 37 1 7995073 7995073 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 1 7995073 7995073 C T SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.544 p.G182R 0.003 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 tier1 - - 52 0 0.00 44 17 27.87 82 0 0.00 44 20 31.25 C4orf33 0 genome.wustl.edu 37 4 130030691 130030691 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 4 130030691 130030691 C T SNP C4orf33 ENST00000281146 human ensembl 74_37 +1 known missense c.358 p.L120F 0.981 NULL NULL - no_errors C4orf33 HGNC ENSG00000151470 tier1 - - 45 0 0.00 27 32 54.24 121 0 0.00 108 74 40.66 GLUL 0 genome.wustl.edu 37 1 182353691 182353691 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 1 182353691 182353691 C T SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.971 p.R324H 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 tier1 - - 32 0 0.00 27 14 34.15 29 0 0.00 19 10 34.48 PLEKHA8P1 0 genome.wustl.edu 37 12 45567092 45567092 + R SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 12 45567092 45567092 C T SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 rs145353585 - 78 0 0.00 83 13 13.54 66 0 0.00 41 10 19.61 CXorf30 0 genome.wustl.edu 37 X 36337408 36337408 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 X 36337408 36337408 C T SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.767 p.P256L 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 31 0 0.00 18 22 55.00 42 0 0.00 10 27 71.05 OPCML 0 genome.wustl.edu 37 11 132307146 132307146 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 11 132307146 132307146 C T SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.634 p.D212N 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 47 0 0.00 28 25 47.17 64 0 0.00 24 19 44.19 PCDHA2 0 genome.wustl.edu 37 5 140176057 140176057 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 5 140176057 140176057 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1508 p.A503V 0.132 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 163 0 0.00 105 41 27.52 1 0 0.00 15 5 25.00 TRIM16 0 genome.wustl.edu 37 17 15554817 15554817 + Missense_Mutation SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 17 15554817 15554817 G A SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.107 p.S36L 0.049 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 tier1 - - 29 0 0.00 63 9 12.50 39 0 0.00 93 19 16.96 RNF183 0 genome.wustl.edu 37 9 116059948 116059948 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 9 116059948 116059948 C T SNP RNF183 ENST00000297894 human ensembl 74_37 -1 known missense c.517 p.V173I 0.261 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF183 HGNC ENSG00000165188 tier1 - - 33 0 0.00 30 19 38.78 85 0 0.00 86 29 25.22 SIRT3 0 genome.wustl.edu 37 11 233415 233415 + Missense_Mutation SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 11 233415 233415 G A SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known missense c.401 p.A134V 0.000 pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 - - 18 0 0.00 18 9 33.33 59 0 0.00 37 9 19.57 ENSG00000211996 0 genome.wustl.edu 37 6 130068891 130068891 + R SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 6 130068891 130068891 G A SNP ENSG00000211996 ENST00000390707 human ensembl 74_37 +1 novel rna NULL NULL 0.085 - - - no_errors Z97352.1 Clone_based_ensembl_gene ENSG00000211996 tier1 - - 38 0 0.00 16 6 27.27 63 0 0.00 45 16 26.23 ENSG00000214581 0 genome.wustl.edu 37 16 34682224 34682224 + R SNP C C A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 16 34682224 34682224 C A SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.136 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 77 0 0.00 69 23 25.00 101 0 0.00 64 24 27.27 CAPN8 0 genome.wustl.edu 37 1 223716526 223716526 + Missense_Mutation SNP G G T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 1 223716526 223716526 G T SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.1966 p.L656I 0.998 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 57 0 0.00 40 24 37.50 90 1 1.10 67 13 16.25 ZNF391 0 genome.wustl.edu 37 6 27368642 27368642 + Missense_Mutation SNP T T C TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 6 27368642 27368642 T C SNP ZNF391 ENST00000244576 human ensembl 74_37 +1 known missense c.493 p.Y165H 0.906 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ENSG00000124613 tier1 - - 25 0 0.00 20 9 31.03 61 0 0.00 34 12 26.09 TLR2 0 genome.wustl.edu 37 4 154626356 154626356 + Missense_Mutation SNP T T C TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 4 154626356 154626356 T C SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.2297 p.M766T 0.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 43 0 0.00 18 18 50.00 123 0 0.00 76 47 38.21 MAP2K7 0 genome.wustl.edu 37 19 7976147 7976147 + Missense_Mutation SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 19 7976147 7976147 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.994 p.D332N 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 22 0 0.00 33 9 21.43 34 0 0.00 48 10 17.24 TEX37 0 genome.wustl.edu 37 2 88828633 88828633 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 2 88828633 88828633 C T SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.184 p.P62S 0.987 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 tier1 - - 38 0 0.00 29 16 34.78 131 0 0.00 87 35 28.69 SLC25A36 0 genome.wustl.edu 37 3 140695202 140695207 + In_Frame_Del DEL TCGTGG TCGTGG - TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 TCGTGG TCGTGG TCGTGG - TCGTGG TCGTGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 3 140695202 140695207 TCGTGG - DEL SLC25A36 ENST00000324194 human ensembl 74_37 +1 known in_frame_del c.843_848 p.RG282in_frame_del 1.000:1.000:1.000:0.993:1.000:1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 tier1 90 0 0.00 35 22 38.60 90 0 0.00 35 22 38.60 MYH7 0 genome.wustl.edu 37 14 23884643 23884645 + In_Frame_Del DEL CCT CCT - TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 CCT CCT CCT - CCT CCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 14 23884643 23884645 CCT - DEL MYH7 ENST00000355349 human ensembl 74_37 -1 known in_frame_del c.5230_5228 p.E1743in_frame_del 1.000:0.995:1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 55 0 0.00 45 14 23.73 97 0 0.00 62 17 21.52 ENSG00000234222 0 genome.wustl.edu 37 1 145508402 145508415 + Splice_Site DEL CTCACTCTATTCCT CTCACTCTATTCCT - TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 CTCACTCTATTCCT CTCACTCTATTCCT CTCACTCTATTCCT - CTCACTCTATTCCT CTCACTCTATTCCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 1 145508402 145508415 CTCACTCTATTCCT - DEL ENSG00000234222 ENST00000596355 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000234222 tier1 108 0 0.00 81 9 10.00 108 0 0.00 81 9 10.00 PYCR1 0 genome.wustl.edu 37 17 79894067 79894067 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 17 79894067 79894067 C T SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known missense c.70 p.V24I 0.039 pfam_G3P_DH_D-dep_N,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_D-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 tier1 - - 49 0 0.00 60 13 17.81 72 0 0.00 56 4 6.67 FAM118A 0 genome.wustl.edu 37 22 45719209 45719209 + Silent SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 22 45719209 45719209 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known silent c.201 p.E67 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 tier1 - - 19 0 0.00 15 5 25.00 32 0 0.00 38 4 9.52 SLC19A1 0 genome.wustl.edu 37 21 46951687 46951687 + Missense_Mutation SNP A A T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 21 46951687 46951687 A T SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.565 p.S189T 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 45 0 0.00 30 18 36.73 22 1 4.35 51 13 20.31 CELP 0 genome.wustl.edu 37 9 135962585 135962586 + R INS - - GCCCCATCCCCGCTACGGGTGACTCTGAGGCC TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 9 135962585 135962586 - GCCCCATCCCCGCTACGGGTGACTCTGAGGCC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.130:0.000 - - - no_errors CELP HGNC ENSG00000170827 tier1 9 0 0.00 5 1 16.67 9 0 0.00 5 1 16.67 EP400 0 genome.wustl.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 12 132547141 132547141 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8337 p.Q2779 0.737 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 22 0 0.00 26 4 13.33 5 0 0.00 3 0 0.00 DUOXA2 0 genome.wustl.edu 37 15 45409411 45409411 + Missense_Mutation SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 15 45409411 45409411 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known missense c.677 p.S226F 0.995 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 tier1 - - 25 0 0.00 17 7 29.17 2 0 0.00 2 0 0.00 HCN2 0 genome.wustl.edu 37 19 613914 613914 + Missense_Mutation SNP C C A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 19 613914 613914 C A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1888 p.L630I 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 - - 48 0 0.00 46 4 8.00 0 0 0.00 2 0 0.00 HOXA9 0 genome.wustl.edu 37 7 27204839 27204839 + Missense_Mutation SNP C C A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 7 27204839 27204839 C A SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.238 p.A80S 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 tier1 - - 27 0 0.00 11 3 21.43 0 0 0.00 3 0 0.00 LAMC3 0 genome.wustl.edu 37 9 133901823 133901823 + Missense_Mutation SNP G G T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 9 133901823 133901823 G T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.525 p.E175D 0.946 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 43 0 0.00 36 4 10.00 2 0 0.00 7 0 0.00 NPIPP1 0 genome.wustl.edu 37 16 15198400 15198401 + R INS - - G TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 16 15198400 15198401 - G INS NPIPP1 ENST00000534799 human ensembl 74_37 -1 known rna NULL NULL 0.017:0.018 - - - no_errors NPIPP1 HGNC ENSG00000188599 tier1 28 0 0.00 45 9 16.67 0 0 0.00 0 0 0.00 PSG1 0 genome.wustl.edu 37 19 43383883 43383883 + R SNP C C T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 19 43383883 43383883 C T SNP PSG1 ENST00000601073 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 35 0 0.00 47 5 9.62 0 0 0.00 7 1 12.50 RPL23AP82 0 genome.wustl.edu 37 22 51237643 51237643 + R SNP C C G TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 22 51237643 51237643 C G SNP RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 tier1 - - 19 0 0.00 11 8 42.11 0 0 0.00 0 0 0.00 SLC12A2 0 genome.wustl.edu 37 5 127419938 127419955 + In_Frame_Del DEL GCGGCGGCGGCGGCGGCA GCGGCGGCGGCGGCGGCA - TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 GCGGCGGCGGCGGCGGCA GCGGCGGCGGCGGCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 5 127419938 127419955 GCGGCGGCGGCGGCGGCA - DEL SLC12A2 ENST00000262461 human ensembl 74_37 +1 known in_frame_del c.292_309 p.AAAAAA101in_frame_del 0.986:0.660:0.322:0.982:0.990:0.982:0.984:0.993:0.986:0.997:0.991:0.966:0.942:0.693:0.010:0.018:0.020:0.019 NULL pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 ANKRD30BP2 0 genome.wustl.edu 37 21 14418386 14418386 + R SNP A A T TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce6266b-1a84-4c5d-9e07-96b3e9957e4a f0526221-b66f-4ead-ab8f-d5ce68caab49 21 14418386 14418386 A T SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 rs201367790 - 23 0 0.00 31 6 16.22 20 0 0.00 25 2 7.41