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 C5orf15 0 genome.wustl.edu 37 5 133295199 133295199 + Missense_Mutation SNP G G C TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 5 133295199 133295199 G C SNP C5orf15 ENST00000231512 human ensembl 74_37 -1 known missense c.652 p.H218D 1.000 NULL NULL - no_errors C5orf15 HGNC ENSG00000113583 tier1 - - 116 0 0.00 37 17 31.48 92 0 0.00 43 19 29.69 TTK 0 genome.wustl.edu 37 6 80737669 80737669 + Missense_Mutation SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 6 80737669 80737669 C T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1462 p.P488S 0.000 NULL 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 TTK HGNC ENSG00000112742 tier1 - - 79 0 0.00 35 5 12.50 104 0 0.00 75 29 27.88 MS4A2 0 genome.wustl.edu 37 11 59860903 59860903 + Missense_Mutation SNP A A G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 11 59860903 59860903 A G SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.409 p.S137G 0.231 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 tier1 - - 106 0 0.00 20 12 37.50 96 0 0.00 39 29 42.65 CALB1 0 genome.wustl.edu 37 8 91094268 91094268 + Missense_Mutation SNP T T C TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 8 91094268 91094268 T C SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known missense c.142 p.K48E 0.999 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 tier1 - - 76 0 0.00 11 5 31.25 51 0 0.00 12 4 25.00 GAB 0 genome.wustl.edu 37 11 62400998 62400998 + R SNP G G T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 11 62400998 62400998 G T SNP GAB ENST00000534422 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GAB HGNC ENSG00000089597 tier1 - - 58 0 0.00 16 4 20.00 55 0 0.00 51 14 21.21 HPN 0 genome.wustl.edu 37 19 35551321 35551321 + Silent SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 19 35551321 35551321 G A SNP HPN ENST00000262626 human ensembl 74_37 +1 known silent c.525 p.P175 0.003 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 tier1 rs35890010 - 93 0 0.00 23 14 37.84 15 0 0.00 14 4 22.22 SYT3 0 genome.wustl.edu 37 19 51140536 51140536 + Silent SNP G G T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 19 51140536 51140536 G T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.133 p.R45 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 128 0 0.00 20 6 23.08 45 0 0.00 23 7 23.33 TP53 0 genome.wustl.edu 37 17 7578290 7578290 + Splice_Site SNP C C G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 17 7578290 7578290 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.560-1 e5-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 84 0 0.00 11 22 66.67 88 0 0.00 44 86 66.15 DUOX2 0 genome.wustl.edu 37 15 45400250 45400250 + Missense_Mutation SNP C C G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 15 45400250 45400250 C G SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1569 p.R523S 0.011 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 216 0 0.00 105 10 8.70 42 0 0.00 35 6 14.63 SCN2A 0 genome.wustl.edu 37 2 166246020 166246020 + Missense_Mutation SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 2 166246020 166246020 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5704 p.R1902C 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 55 0 0.00 21 7 25.00 125 0 0.00 79 12 13.04 DUOX2 0 genome.wustl.edu 37 15 45394058 45394058 + Silent SNP C C A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 15 45394058 45394058 C A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.2784 p.L928 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 86 0 0.00 28 8 22.22 51 0 0.00 55 7 11.29 TMEM108 0 genome.wustl.edu 37 3 133109090 133109090 + Missense_Mutation SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 3 133109090 133109090 G A SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known missense c.1517 p.S506N 1.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 tier1 - - 63 0 0.00 39 4 9.30 165 0 0.00 109 14 11.38 MPDZ 0 genome.wustl.edu 37 9 13205963 13205963 + Missense_Mutation SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 9 13205963 13205963 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1426 p.V476I 0.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 65 0 0.00 27 11 28.95 69 1 1.43 31 23 42.59 KRT82 0 genome.wustl.edu 37 12 52797693 52797693 + Missense_Mutation SNP C C A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 12 52797693 52797693 C A SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known missense c.412 p.V138F 1.000 pfam_IF pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 tier1 - - 43 0 0.00 12 3 20.00 77 0 0.00 45 7 13.46 SPTB 0 genome.wustl.edu 37 14 65234023 65234023 + Silent SNP A A T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 14 65234023 65234023 A T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.6267 p.T2089 0.838 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 81 0 0.00 26 4 13.33 78 0 0.00 42 12 22.22 KIAA1429 0 genome.wustl.edu 37 8 95556150 95556150 + Silent SNP C C A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 8 95556150 95556150 C A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.84 p.V28 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 94 0 0.00 36 6 14.29 95 1 1.04 71 12 14.29 DOCK7 0 genome.wustl.edu 37 1 63097073 63097073 + Missense_Mutation SNP T T C TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 1 63097073 63097073 T C SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.1120 p.K374E 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 48 0 0.00 23 7 23.33 78 0 0.00 80 33 29.20 ATP13A2 0 genome.wustl.edu 37 1 17322893 17322893 + Missense_Mutation SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 1 17322893 17322893 G A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.1294 p.L432F 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 tier1 - - 215 0 0.00 63 23 26.74 38 0 0.00 26 9 25.71 NOP2 0 genome.wustl.edu 37 12 6671112 6671112 + Missense_Mutation SNP A A T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 12 6671112 6671112 A T SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.1004 p.L335Q 1.000 pfam_Fmu/NOL1/Nop2p,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rR_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 tier1 - - 120 0 0.00 34 9 20.93 104 0 0.00 62 18 22.50 IRX4 0 genome.wustl.edu 37 5 1879802 1879802 + Missense_Mutation SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 5 1879802 1879802 C T SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.552 p.M184I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 tier1 - - 135 0 0.00 78 21 21.21 49 0 0.00 41 13 24.07 ENSG00000216194 0 genome.wustl.edu 37 8 7315547 7315547 + R SNP A A G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 8 7315547 7315547 A G SNP ENSG00000216194 ENST00000401375 human ensembl 74_37 +1 novel rna NULL NULL 0.007 - - - no_errors AC130360.1 Clone_based_ensembl_gene ENSG00000216194 tier1 - - 174 0 0.00 52 7 11.86 22 0 0.00 11 2 15.38 ATP11A 0 genome.wustl.edu 37 13 113473690 113473690 + Missense_Mutation SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 13 113473690 113473690 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.643 p.E215K 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 tier1 - - 95 0 0.00 33 10 23.26 82 0 0.00 80 16 16.67 MAPK8IP3 0 genome.wustl.edu 37 16 1812437 1812437 + Missense_Mutation SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 16 1812437 1812437 G A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.1622 p.R541Q 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 146 0 0.00 78 7 8.24 39 0 0.00 45 5 10.00 ZZZ3 0 genome.wustl.edu 37 1 78031789 78031789 + Missense_Mutation SNP A A T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 1 78031789 78031789 A T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.2544 p.D848E 1.000 pfam_Znf_ZZ,pfscan_Znf_ZZ pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 87 0 0.00 62 29 31.87 93 0 0.00 85 22 20.56 LCP2 0 genome.wustl.edu 37 5 169720342 169720342 + Missense_Mutation SNP T T A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 5 169720342 169720342 T A SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.113 p.K38M 0.911 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 tier1 - - 109 0 0.00 22 10 31.25 162 0 0.00 59 22 27.16 HSPG2 0 genome.wustl.edu 37 1 22169884 22169885 + Frame_Shift_Del DEL AG AG - TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 1 22169884 22169885 AG - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.8664_8663 p.S2888fs 0.999:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 145 0 0.00 31 6 16.22 22 0 0.00 24 9 27.27 UTP14A 0 genome.wustl.edu 37 X 129055621 129055622 + R INS - - A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 X 129055621 129055622 - A INS UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors UTP14A HGNC ENSG00000156697 tier1 38 0 0.00 15 3 16.67 75 1 1.32 33 4 10.81 SLC6A9 0 genome.wustl.edu 37 1 44466534 44466534 + Missense_Mutation SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 1 44466534 44466534 G A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1660 p.R554W 0.995 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 tier1 - - 122 0 0.00 47 20 29.85 56 0 0.00 38 4 9.52 LINC00470 0 genome.wustl.edu 37 18 1276028 1276028 + R SNP T T C TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 18 1276028 1276028 T C SNP LINC00470 ENST00000269201 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors LINC00470 HGNC ENSG00000132204 tier1 - - 148 0 0.00 41 5 10.87 99 0 0.00 108 10 8.47 PPARG 0 genome.wustl.edu 37 3 12458565 12458565 + Silent SNP C C G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 3 12458565 12458565 C G SNP PPARG ENST00000287820 human ensembl 74_37 +1 known silent c.1182 p.P394 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 tier1 - - 95 0 0.00 35 4 10.26 93 0 0.00 66 6 8.33 ACHE 0 genome.wustl.edu 37 7 100491105 100491105 + Missense_Mutation SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 7 100491105 100491105 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.749 p.R250Q 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 44 0 0.00 12 4 25.00 13 0 0.00 6 0 0.00 DNM1P34 0 genome.wustl.edu 37 15 75593138 75593138 + R DEL A A - TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 15 75593138 75593138 A - DEL DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P34 HGNC ENSG00000260357 tier1 37 0 0.00 6 2 25.00 11 0 0.00 5 0 0.00 DSPP 0 genome.wustl.edu 37 4 88536614 88536614 + Missense_Mutation SNP A A G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 4 88536614 88536614 A G SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.2800 p.N934D 0.354 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 120 1 0.83 55 6 9.84 22 0 0.00 4 0 0.00 EXD3 0 genome.wustl.edu 37 9 140243836 140243836 + Frame_Shift_Del DEL G G - TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 9 140243836 140243836 G - DEL EXD3 ENST00000340951 human ensembl 74_37 -1 known frame_shift_del c.1642 p.Q548fs 0.993 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_Mut7-C_Rse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 59 0 0.00 21 2 8.70 8 0 0.00 7 0 0.00 NLRP1 0 genome.wustl.edu 37 17 5436697 5436697 + Silent SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 17 5436697 5436697 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3060 p.A1020 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 16 0 0.00 4 6 60.00 0 0 0.00 0 0 0.00 RIMBP2 0 genome.wustl.edu 37 12 130921759 130921759 + Silent SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 12 130921759 130921759 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.1683 p.G561 0.038 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 56 0 0.00 18 4 18.18 0 0 0.00 3 0 0.00 SEMA4B 0 genome.wustl.edu 37 15 90744945 90744945 + Frame_Shift_Del DEL C C - TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 15 90744945 90744945 C - DEL SEMA4B ENST00000332496 human ensembl 74_37 +1 known frame_shift_del c.135 p.R47fs 0.781 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 tier1 17 0 0.00 11 2 15.38 0 0 0.00 0 0 0.00 SYT8 0 genome.wustl.edu 37 11 1856592 1856592 + Missense_Mutation SNP G G T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 11 1856592 1856592 G T SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.203 p.C68F 0.513 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 81 0 0.00 21 4 16.00 3 0 0.00 4 0 0.00 WASH6P 0 genome.wustl.edu 37 X 155253591 155253591 + R SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 X 155253591 155253591 G A SNP WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 245 0 0.00 62 10 13.89 0 0 0.00 0 0 0.00 DSCAML1 0 genome.wustl.edu 37 11 117308034 117308034 + Silent SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 11 117308034 117308034 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.4704 p.C1568 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 58 0 0.00 12 3 20.00 92 0 0.00 48 2 4.00 TRPM6 0 genome.wustl.edu 37 9 77436669 77436669 + Missense_Mutation SNP T T A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 9 77436669 77436669 T A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.926 p.D309V 0.883 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 110 0 0.00 44 6 12.00 97 0 0.00 62 2 3.12 C18orf61 0 genome.wustl.edu 37 18 12211904 12211904 + R SNP C C T TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb69acbd-68de-47c8-9f21-643be150e2e8 ad86364a-9f45-4c31-a547-3de1dc9c8120 18 12211904 12211904 C T SNP C18orf61 ENST00000586642 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-64C12.3 Clone_based_vega_gene ENSG00000267733 tier1 - - 103 0 0.00 34 8 19.05 30 0 0.00 28 2 6.67