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 ARFGAP2 0 genome.wustl.edu 37 11 47186904 47186904 + R SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 11 47186904 47186904 C T SNP ARFGAP2 ENST00000395449 human ensembl 74_37 -1 known rna NULL NULL 0.662 - - - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 - - 23 0 0.00 14 7 33.33 69 0 0.00 28 13 31.71 L1TD1 0 genome.wustl.edu 37 1 62672642 62672642 + Silent SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 62672642 62672642 G A SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known silent c.342 p.G114 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 18 0 0.00 19 25 56.82 95 0 0.00 120 122 50.41 GCNT3 0 genome.wustl.edu 37 15 59911094 59911094 + Silent SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 15 59911094 59911094 G A SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known silent c.657 p.P219 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 tier1 rs200140304 GMAF=0.0005 52 0 0.00 28 13 31.71 76 0 0.00 66 16 19.51 OR1J2 0 genome.wustl.edu 37 9 125273445 125273445 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 9 125273445 125273445 G A SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known missense c.365 p.R122Q 0.037 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 tier1 - - 63 0 0.00 80 63 44.06 59 0 0.00 89 84 48.55 PRUNE2 0 genome.wustl.edu 37 9 79326018 79326018 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 9 79326018 79326018 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.95 p.S32F 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 44 0 0.00 42 24 36.36 79 0 0.00 50 18 26.09 L1TD1 0 genome.wustl.edu 37 1 62672499 62672499 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 62672499 62672499 G A SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.199 p.E67K 0.004 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 15 0 0.00 19 21 52.50 104 0 0.00 102 116 53.21 PREX2 0 genome.wustl.edu 37 8 69104676 69104676 + Missense_Mutation SNP G G T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 8 69104676 69104676 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4520 p.G1507V 0.999 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 43 0 0.00 27 8 22.86 38 0 0.00 24 11 31.43 WNK2 0 genome.wustl.edu 37 9 96009927 96009927 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 9 96009927 96009927 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.1645 p.A549T 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 54 0 0.00 66 12 15.19 12 0 0.00 13 2 13.33 THBS4 0 genome.wustl.edu 37 5 79355569 79355569 + Silent SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 5 79355569 79355569 C T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.828 p.P276 0.009 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 rs200566165 GMAF=0.0005 28 0 0.00 36 10 21.74 51 0 0.00 39 8 16.67 TOX3 0 genome.wustl.edu 37 16 52473155 52473155 + Silent SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 16 52473155 52473155 C T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known silent c.1713 p.S571 0.011 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 39 0 0.00 41 10 19.61 60 0 0.00 44 20 31.25 KRAS 0 genome.wustl.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 25398282 25398282 C A SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.37 p.G13C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913535 - 22 0 0.00 33 5 13.16 66 0 0.00 47 10 17.54 L1TD1 0 genome.wustl.edu 37 1 62672847 62672847 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 62672847 62672847 G A SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.547 p.D183N 0.002 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 24 0 0.00 26 31 54.39 101 0 0.00 108 118 52.21 C12orf56 0 genome.wustl.edu 37 12 64706514 64706514 + Missense_Mutation SNP C C G TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 64706514 64706514 C G SNP C12orf56 ENST00000543942 human ensembl 74_37 -1 putative missense c.913 p.D305H 1.000 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 tier1 - - 15 0 0.00 23 6 20.69 84 0 0.00 91 43 32.09 RSPRY1 0 genome.wustl.edu 37 16 57261275 57261275 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 16 57261275 57261275 G A SNP RSPRY1 ENST00000394420 human ensembl 74_37 +1 known missense c.1183 p.D395N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 tier1 - - 32 0 0.00 33 5 13.16 76 0 0.00 49 19 27.54 BPIFB6 0 genome.wustl.edu 37 20 31619530 31619530 + Missense_Mutation SNP T T G TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 20 31619530 31619530 T G SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.77 p.L26W 0.996 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 tier1 - - 126 0 0.00 78 27 25.71 20 0 0.00 12 6 33.33 KIF5A 0 genome.wustl.edu 37 12 57960960 57960960 + Missense_Mutation SNP G G C TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 57960960 57960960 G C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.553 p.D185H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 - - 43 0 0.00 38 7 15.56 116 0 0.00 115 23 16.67 MEMO1 0 genome.wustl.edu 37 2 32093492 32093492 + Missense_Mutation SNP G G C TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 2 32093492 32093492 G C SNP MEMO1 ENST00000379383 human ensembl 74_37 -1 known missense c.841 p.Q281E 1.000 pfam_MEMO1_fam pfam_MEMO1_fam - no_errors MEMO1 HGNC ENSG00000162959 tier1 - - 19 0 0.00 11 6 35.29 33 0 0.00 18 3 14.29 TUBAL3 0 genome.wustl.edu 37 10 5446755 5446755 + Missense_Mutation SNP T T A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 10 5446755 5446755 T A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.1 p.M1L 0.998 superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 tier1 - - 19 0 0.00 13 7 35.00 83 0 0.00 56 23 29.11 C12orf56 0 genome.wustl.edu 37 12 64706467 64706467 + Missense_Mutation SNP C C G TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 64706467 64706467 C G SNP C12orf56 ENST00000543942 human ensembl 74_37 -1 putative missense c.960 p.K320N 1.000 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 tier1 - - 23 0 0.00 28 11 28.21 97 0 0.00 89 49 35.51 MYO5B 0 genome.wustl.edu 37 18 47404149 47404149 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 18 47404149 47404149 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.3380 p.A1127V 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 57 0 0.00 50 20 28.57 96 0 0.00 73 34 31.78 PDE1B 0 genome.wustl.edu 37 12 54960762 54960762 + Missense_Mutation SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 54960762 54960762 C T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.118 p.R40C 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 tier1 rs147900601 - 24 0 0.00 234 62 20.88 46 0 0.00 589 126 17.52 RYR2 0 genome.wustl.edu 37 1 237551406 237551406 + Silent SNP T T C TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 237551406 237551406 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.690 p.D230 0.990 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 48 0 0.00 40 17 29.82 72 0 0.00 36 15 29.41 L1TD1 0 genome.wustl.edu 37 1 62675988 62675988 + Silent SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 62675988 62675988 G A SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known silent c.1542 p.L514 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 19 0 0.00 19 20 51.28 44 0 0.00 45 77 63.11 ZNF335 0 genome.wustl.edu 37 20 44581055 44581055 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 20 44581055 44581055 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.2920 p.P974S 0.129 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 46 0 0.00 26 9 25.71 23 0 0.00 12 5 29.41 KIF5A 0 genome.wustl.edu 37 12 57960944 57960944 + Missense_Mutation SNP G G C TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 57960944 57960944 G C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.537 p.E179D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 - - 47 0 0.00 39 8 17.02 123 0 0.00 122 25 17.01 FAM135A 0 genome.wustl.edu 37 6 71234525 71234525 + Missense_Mutation SNP A A G TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 6 71234525 71234525 A G SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.1738 p.T580A 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 16 0 0.00 12 11 47.83 86 0 0.00 67 27 28.72 CDKN1A 0 genome.wustl.edu 37 6 36651975 36651975 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 6 36651975 36651975 G A SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.199 p.D67N 0.959 pfam_CDI pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 tier1 - - 70 0 0.00 54 18 25.00 15 0 0.00 9 2 18.18 PAK3 0 genome.wustl.edu 37 X 110406911 110406912 + Frame_Shift_Ins INS - - A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea X 110406911 110406912 - A INS PAK3 ENST00000360648 human ensembl 74_37 +1 known frame_shift_ins c.830_831 p.S280fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 tier1 10 0 0.00 9 6 40.00 27 0 0.00 8 12 60.00 CLCNKA 0 genome.wustl.edu 37 1 16360144 16360144 + Silent SNP T T C TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 1 16360144 16360144 T C SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known silent c.2055 p.A685 0.903 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 tier1 - - 42 0 0.00 44 6 12.00 61 1 1.61 81 4 4.71 SNORD3A 0 genome.wustl.edu 37 17 19091448 19091448 + R SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 17 19091448 19091448 C T SNP SNORD3A ENST00000365494 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SNORD3A HGNC ENSG00000263934 tier1 - - 242 0 0.00 253 30 10.60 325 0 0.00 252 26 9.32 RELA 0 genome.wustl.edu 37 11 65429468 65429468 + Silent SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 11 65429468 65429468 G A SNP RELA ENST00000406246 human ensembl 74_37 -1 known silent c.126 p.S42 0.016 pfam_RHD,superfamily_p53-like_TF_D-bd,pfscan_RHD,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 tier1 - - 50 0 0.00 35 9 20.45 7 0 0.00 9 1 10.00 MT-RNR2 0 genome.wustl.edu 37 MT 2300 2300 + R SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea MT 2300 2300 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 41 0 0.00 28 19 40.43 1 0 0.00 0 0 0.00 PARP8 0 genome.wustl.edu 37 5 49962737 49962738 + R INS - - CCT TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 5 49962737 49962738 - CCT INS PARP8 ENST00000513414 human ensembl 74_37 +1 putative rna NULL NULL 0.994:0.991 - - - no_errors PARP8 HGNC ENSG00000151883 tier1 34 0 0.00 19 9 32.14 0 0 0.00 0 0 0.00 RCVRN 0 genome.wustl.edu 37 17 9801316 9801317 + R INS - - GTGTGTGC TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 17 9801316 9801317 - GTGTGTGC INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ARHGAP9 0 genome.wustl.edu 37 12 57869320 57869320 + Missense_Mutation SNP C C T TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 57869320 57869320 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1447 p.E483K 0.923 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 tier1 - - 27 0 0.00 19 73 79.35 3 0 0.00 7 9 56.25 A2ML1 0 genome.wustl.edu 37 12 8990042 8990080 + In_Frame_Del DEL CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT - TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d734d06-f2b1-4924-a201-620ac8084c49 97a68a03-dc99-4ba9-8b81-1b40f2ce32ea 12 8990042 8990080 CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT - DEL A2ML1 ENST00000299698 human ensembl 74_37 +1 known in_frame_del c.735_773 p.YGKPMLGAVQVSV246in_frame_del 1.000:1.000:1.000:0.997:1.000:1.000:0.996:1.000:0.999:0.989:0.984:0.951:0.052:0.001:0.007:0.005:0.002:0.000:0.000:0.079:0.077:0.033:0.004:0.002:0.001:0.031:0.026:0.019:0.017:0.008:0.006:0.038:0.032:0.003:0.009:0.009:0.000:0.154:0.178 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 tier1 59 0 0.00 69 2 2.82 59 0 0.00 69 2 2.82