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 DSCAM 0 genome.wustl.edu 37 21 41385063 41385063 + Silent SNP C C G TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 21 41385063 41385063 C G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5937 p.L1979 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 56 0 0.00 33 27 45.00 47 0 0.00 53 22 29.33 COL5A3 0 genome.wustl.edu 37 19 10083634 10083634 + Missense_Mutation SNP C C G TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 19 10083634 10083634 C G SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3735 p.K1245N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 79 0 0.00 66 22 25.00 59 0 0.00 71 22 23.66 CHST1 0 genome.wustl.edu 37 11 45671339 45671339 + Missense_Mutation SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 11 45671339 45671339 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1135 p.V379M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 91 0 0.00 57 25 30.49 19 0 0.00 12 8 40.00 BAALC 0 genome.wustl.edu 37 8 104210364 104210364 + Missense_Mutation SNP G G C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 8 104210364 104210364 G C SNP BAALC ENST00000330955 human ensembl 74_37 +1 putative missense c.198 p.Q66H 0.011 NULL pfam_BAALC - no_errors BAALC HGNC ENSG00000164929 tier1 - - 59 0 0.00 61 20 24.69 86 0 0.00 92 35 27.56 INTS4L1 0 genome.wustl.edu 37 7 64613446 64613446 + R SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 7 64613446 64613446 G A SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors INTS4L1 HGNC ENSG00000164669 tier1 - - 55 0 0.00 52 19 26.76 17 0 0.00 28 7 20.00 ENSG00000260628 0 genome.wustl.edu 37 16 31993507 31993507 + R SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 16 31993507 31993507 C T SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 37 0 0.00 42 16 27.59 18 0 0.00 17 7 29.17 EPHA8 0 genome.wustl.edu 37 1 22927488 22927488 + Missense_Mutation SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 1 22927488 22927488 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2636 p.R879Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 rs146856523 - 31 0 0.00 33 14 29.79 12 0 0.00 11 4 26.67 ENSG00000222033 0 genome.wustl.edu 37 2 171570607 171570607 + Missense_Mutation SNP G G T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 171570607 171570607 G T SNP ENSG00000222033 ENST00000409786 human ensembl 74_37 -1 novel missense c.347 p.A116E 0.000 NULL NULL - no_errors AC007405.2 Clone_based_vega_gene ENSG00000222033 tier1 - - 26 0 0.00 12 7 36.84 18 0 0.00 12 7 36.84 OR13D1 0 genome.wustl.edu 37 9 107457047 107457047 + Silent SNP T T A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 9 107457047 107457047 T A SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known silent c.345 p.I115 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13D1 HGNC ENSG00000179055 tier1 - - 36 0 0.00 30 18 37.50 73 0 0.00 106 29 21.48 MYH10 0 genome.wustl.edu 37 17 8422225 8422225 + Missense_Mutation SNP C C A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 17 8422225 8422225 C A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2287 p.D763Y 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 141 0 0.00 111 54 32.73 134 0 0.00 145 57 28.22 TP53 0 genome.wustl.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 17 7577498 7577498 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.782+1 e6+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 26 0 0.00 11 21 65.62 76 0 0.00 40 24 37.50 KIF4B 0 genome.wustl.edu 37 5 154395666 154395666 + Silent SNP T T C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 5 154395666 154395666 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known silent c.2247 p.N749 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 112 0 0.00 80 35 30.43 36 0 0.00 29 20 40.82 DJC5B 0 genome.wustl.edu 37 8 66963819 66963819 + Silent SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 8 66963819 66963819 C T SNP DJC5B ENST00000276570 human ensembl 74_37 +1 known silent c.37 p.L13 0.000 superfamily_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC5B HGNC ENSG00000147570 tier1 - - 47 0 0.00 50 27 35.06 131 0 0.00 105 39 26.90 MARCO 0 genome.wustl.edu 37 2 119739778 119739778 + Silent SNP A A G TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 119739778 119739778 A G SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.948 p.G316 0.284 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 36 0 0.00 29 13 30.95 33 0 0.00 35 17 32.69 RNF125 0 genome.wustl.edu 37 18 29648343 29648343 + Missense_Mutation SNP C C A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 18 29648343 29648343 C A SNP RNF125 ENST00000217740 human ensembl 74_37 +1 known missense c.695 p.T232K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 tier1 - - 114 0 0.00 59 38 39.18 139 0 0.00 135 60 30.77 ADAM11 0 genome.wustl.edu 37 17 42852679 42852679 + Missense_Mutation SNP G G T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 17 42852679 42852679 G T SNP ADAM11 ENST00000200557 human ensembl 74_37 +1 known missense c.1320 p.K440N 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 tier1 - - 61 0 0.00 57 18 24.00 45 0 0.00 59 18 23.38 SIDT2 0 genome.wustl.edu 37 11 117053257 117053257 + Missense_Mutation SNP A A C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 11 117053257 117053257 A C SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.539 p.E180A 0.996 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 tier1 - - 62 0 0.00 29 15 34.09 127 0 0.00 88 31 26.05 RC3H2 0 genome.wustl.edu 37 9 125627715 125627715 + Missense_Mutation SNP C C A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 9 125627715 125627715 C A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.1547 p.R516I 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 116 0 0.00 63 26 29.21 141 0 0.00 117 47 28.66 GPR78 0 genome.wustl.edu 37 4 8588802 8588802 + Silent SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 4 8588802 8588802 C T SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known silent c.804 p.F268 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 tier1 - - 107 0 0.00 79 22 21.78 27 0 0.00 20 16 43.24 SP91 0 genome.wustl.edu 37 6 84368742 84368742 + Silent SNP T T C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 6 84368742 84368742 T C SNP SP91 ENST00000369694 human ensembl 74_37 -1 known silent c.522 p.Q174 0.998 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SP91 HGNC ENSG00000065609 tier1 - - 61 0 0.00 41 11 21.15 76 0 0.00 77 23 22.77 FAM167A 0 genome.wustl.edu 37 8 11280926 11280926 + R SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 8 11280926 11280926 G A SNP FAM167A ENST00000531564 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors FAM167A HGNC ENSG00000154319 tier1 - - 43 0 0.00 41 4 8.89 70 0 0.00 83 36 30.25 DH7 0 genome.wustl.edu 37 2 196709754 196709754 + Missense_Mutation SNP A A G TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 196709754 196709754 A G SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8917 p.F2973L 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 119 0 0.00 81 40 33.06 61 0 0.00 77 32 29.36 CLMN 0 genome.wustl.edu 37 14 95669657 95669657 + Missense_Mutation SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 14 95669657 95669657 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.2029 p.D677N 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 tier1 - - 28 0 0.00 35 5 12.50 71 0 0.00 84 28 25.00 FL 0 genome.wustl.edu 37 X 153590144 153590144 + Silent SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 X 153590144 153590144 G A SNP FL ENST00000369850 human ensembl 74_37 -1 known silent c.2838 p.G946 0.001 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FL HGNC ENSG00000196924 tier1 - - 37 0 0.00 22 10 31.25 66 0 0.00 74 27 26.73 APC5 0 genome.wustl.edu 37 12 121766222 121766222 + Missense_Mutation SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 12 121766222 121766222 C T SNP APC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1201 p.A401T 1.000 NULL smart_TPR_repeat - no_errors APC5 HGNC ENSG00000089053 tier1 - - 47 0 0.00 35 11 23.91 75 0 0.00 88 22 20.00 PRUNE2 0 genome.wustl.edu 37 9 79259430 79259430 + R SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 9 79259430 79259430 G A SNP PRUNE2 ENST00000488346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 15 0 0.00 11 4 26.67 63 0 0.00 83 15 15.15 DH8 0 genome.wustl.edu 37 6 38994431 38994431 + Silent SNP G G T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 6 38994431 38994431 G T SNP DH8 ENST00000359357 human ensembl 74_37 +1 known silent c.13173 p.T4391 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 28 0 0.00 31 7 18.42 77 0 0.00 70 40 36.36 GPR64 0 genome.wustl.edu 37 X 19014264 19014264 + Frame_Shift_Del DEL A A - TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 X 19014264 19014264 A - DEL GPR64 ENST00000379869 human ensembl 74_37 -1 known frame_shift_del c.2621 p.F874fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 tier1 257 0 0.00 342 69 16.79 90 0 0.00 220 49 18.22 MUC5B 0 genome.wustl.edu 37 11 1271489 1271489 + Missense_Mutation SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 11 1271489 1271489 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.13388 p.T4463M 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 rs200985531 - 69 0 0.00 46 16 25.81 6 0 0.00 5 8 61.54 TRIM64C 0 genome.wustl.edu 37 11 49080482 49080482 + Silent SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 11 49080482 49080482 C T SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known silent c.183 p.K61 0.004 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 141 1 0.70 129 12 8.51 31 0 0.00 37 4 9.76 SEMA3A 0 genome.wustl.edu 37 7 83591051 83591051 + Missense_Mutation SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 7 83591051 83591051 G A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1952 p.A651V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 rs150205475 GMAF=0.0005 58 0 0.00 55 14 20.29 103 1 0.96 152 13 7.88 LTC4S 0 genome.wustl.edu 37 5 179221116 179221116 + Missense_Mutation SNP C C A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 5 179221116 179221116 C A SNP LTC4S ENST00000292596 human ensembl 74_37 +1 known missense c.35 p.T12N 1.000 pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP - no_errors LTC4S HGNC ENSG00000213316 tier1 - - 71 0 0.00 69 11 13.75 81 0 0.00 81 7 7.95 SGOL1 0 genome.wustl.edu 37 3 20216049 20216050 + Frame_Shift_Ins INS - - T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 3 20216049 20216050 - T INS SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_ins c.974_973 p.M325fs 0.002:0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 tier1 22 0 0.00 20 3 13.04 105 1 0.94 132 4 2.94 ICAM5 0 genome.wustl.edu 37 19 10401797 10401797 + Silent SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 19 10401797 10401797 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.132 p.F44 0.963 pfam_ICAM_N,prints_ICAM_VCAM_N pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 61 0 0.00 40 17 29.82 8 0 0.00 4 0 0.00 ENSG00000272913 0 genome.wustl.edu 37 2 96191372 96191372 + R DEL A A - TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 96191372 96191372 A - DEL ENSG00000272913 ENST00000609975 human ensembl 74_37 -1 known rna NULL NULL 0.546 - - - no_errors RP11-440D17.3 Clone_based_vega_gene ENSG00000272913 tier1 48 0 0.00 31 14 31.11 2 0 0.00 0 0 0.00 LOC100507033 0 genome.wustl.edu 37 3 194219220 194219221 + R INS - - TTTTG TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 3 194219220 194219221 - TTTTG INS LOC100507033 ENST00000455557 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC108676.1 Clone_based_vega_gene ENSG00000244675 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MUC12 0 genome.wustl.edu 37 7 100644303 100644303 + Missense_Mutation SNP G G A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 7 100644303 100644303 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.10459 p.V3487I 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 rs144363228 - 13 0 0.00 12 6 33.33 3 0 0.00 4 1 20.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147841 + R DEL GTGTGT GTGTGT - TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 GTGTGT GTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 50147836 50147841 GTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 RGPD4 0 genome.wustl.edu 37 2 108459652 108459652 + Missense_Mutation SNP G G C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 2 108459652 108459652 G C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.593 p.R198P 0.811 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 15 0 0.00 5 3 37.50 0 0 0.00 0 0 0.00 ZNF503 0 genome.wustl.edu 37 10 77161101 77161106 + In_Frame_Del DEL CCGCCT CCGCCT - TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 CCGCCT CCGCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 10 77161101 77161106 CCGCCT - DEL ZNF503 ENST00000372524 human ensembl 74_37 -1 known in_frame_del c.77_72 p.GG26in_frame_del 0.963:0.956:0.985:0.989:0.990:0.996 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 TRIM58 0 genome.wustl.edu 37 1 248020718 248020718 + Missense_Mutation SNP G G C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 1 248020718 248020718 G C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.170 p.C57S 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 55 0 0.00 32 13 28.89 2 0 0.00 3 4 57.14 ASAH1 0 genome.wustl.edu 37 8 17942299 17942299 + Nonsense_Mutation SNP G G T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67fce992-e09f-4bde-b216-e9516a3bf796 74be41ea-729b-4b31-8c99-add92e25b393 8 17942299 17942299 G T SNP ASAH1 ENST00000381733 human ensembl 74_37 -1 known nonsense c.12 p.C4* 0.000 NULL pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 tier1 - - 38 0 0.00 49 5 9.26 77 0 0.00 91 2 2.13