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 TMTC3 0 genome.wustl.edu 37 12 88547274 88547274 + Missense_Mutation SNP A A G TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 12 88547274 88547274 A G SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.396 p.I132M 1.000 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 tier1 - - 44 0 0.00 25 18 41.86 66 0 0.00 29 23 44.23 MUC16 0 genome.wustl.edu 37 19 9015716 9015716 + Missense_Mutation SNP G G C TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 19 9015716 9015716 G C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38107 p.L12703V 1.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 90 0 0.00 26 14 35.00 21 0 0.00 15 10 40.00 RYR2 0 genome.wustl.edu 37 1 237843759 237843759 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 1 237843759 237843759 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8893 p.V2965I 0.984 NULL 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 - - 34 0 0.00 17 7 29.17 85 0 0.00 51 19 26.76 ENSG00000216089 0 genome.wustl.edu 37 4 160216908 160216908 + R SNP C C T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 4 160216908 160216908 C T SNP ENSG00000216089 ENST00000401270 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC105316.1 Clone_based_ensembl_gene ENSG00000216089 tier1 rs4690935 - 33 0 0.00 29 5 14.71 9 0 0.00 19 4 17.39 OR4C46 0 genome.wustl.edu 37 11 51516009 51516009 + Missense_Mutation SNP C C T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 11 51516009 51516009 C T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.728 p.T243M 0.103 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 rs137991158 - 93 0 0.00 24 12 33.33 25 0 0.00 13 13 50.00 FAM83G 0 genome.wustl.edu 37 17 18891589 18891589 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 17 18891589 18891589 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.661 p.R221W 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 44 0 0.00 9 7 43.75 70 0 0.00 39 32 45.07 ALKBH4 0 genome.wustl.edu 37 7 102097908 102097908 + Missense_Mutation SNP C C T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 7 102097908 102097908 C T SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known missense c.842 p.G281E 0.990 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 tier1 - - 78 0 0.00 32 30 48.39 26 0 0.00 12 9 42.86 CHPF2 0 genome.wustl.edu 37 7 150935155 150935155 + Missense_Mutation SNP G G T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 7 150935155 150935155 G T SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1707 p.E569D 1.000 pfam_Chond_Galc pfam_Chond_Galc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 42 0 0.00 13 8 38.10 86 0 0.00 54 30 35.71 TBC1D15 0 genome.wustl.edu 37 12 72291723 72291723 + Splice_Site SNP T T A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 12 72291723 72291723 T A SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known splice_site c.1234+2 e11+2 1.000 - - - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 66 0 0.00 31 56 64.37 83 0 0.00 44 27 37.50 IKBKAP 0 genome.wustl.edu 37 9 111685148 111685148 + Missense_Mutation SNP T T C TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 9 111685148 111685148 T C SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.526 p.R176G 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 58 0 0.00 30 16 34.78 120 0 0.00 91 33 26.40 AVIL 0 genome.wustl.edu 37 12 58207134 58207134 + Missense_Mutation SNP G G C TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 12 58207134 58207134 G C SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.214 p.Q72E 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 tier1 - - 17 0 0.00 330 128 27.95 30 0 0.00 1108 310 21.80 CSRNP3 0 genome.wustl.edu 37 2 166536009 166536009 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 2 166536009 166536009 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1504 p.V502I 0.893 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 27 0 0.00 12 12 50.00 59 0 0.00 32 29 47.54 LINC00846 0 genome.wustl.edu 37 21 33947970 33947970 + R SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 21 33947970 33947970 G A SNP LINC00846 ENST00000334165 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LINC00846 HGNC ENSG00000186842 tier1 - - 41 0 0.00 15 9 37.50 83 0 0.00 56 35 38.46 RPF2 0 genome.wustl.edu 37 6 111346637 111346637 + Missense_Mutation SNP C C G TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 6 111346637 111346637 C G SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known missense c.773 p.T258S 1.000 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 tier1 - - 30 0 0.00 13 15 53.57 43 0 0.00 23 9 28.12 EYA4 0 genome.wustl.edu 37 6 133804184 133804184 + Nonsense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 6 133804184 133804184 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known nonsense c.1122 p.W374* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 62 0 0.00 34 4 10.53 76 0 0.00 58 9 13.24 SYNE1 0 genome.wustl.edu 37 6 152697665 152697665 + Nonsense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 6 152697665 152697665 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.9175 p.Q3059* 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 103 0 0.00 48 27 36.00 104 0 0.00 50 21 29.58 FRK 0 genome.wustl.edu 37 6 116381270 116381270 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 6 116381270 116381270 G A SNP FRK ENST00000606080 human ensembl 74_37 -1 known missense c.205 p.L69F 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 tier1 - - 26 0 0.00 15 15 50.00 126 0 0.00 62 30 32.61 AVIL 0 genome.wustl.edu 37 12 58207180 58207180 + Silent SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 12 58207180 58207180 G A SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.168 p.S56 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 tier1 - - 11 0 0.00 269 104 27.88 29 0 0.00 1159 318 21.49 SPR 0 genome.wustl.edu 37 2 73115591 73115591 + Silent SNP C C T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 2 73115591 73115591 C T SNP SPR ENST00000234454 human ensembl 74_37 +1 known silent c.453 p.T151 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 tier1 - - 54 0 0.00 13 14 51.85 107 0 0.00 54 33 37.50 BTN1A1 0 genome.wustl.edu 37 6 26508941 26508941 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 6 26508941 26508941 G A SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.1120 p.V374M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 tier1 - - 44 0 0.00 20 12 37.50 82 0 0.00 43 30 41.10 CATSPER1 0 genome.wustl.edu 37 11 65793082 65793082 + Nonsense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 11 65793082 65793082 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known nonsense c.769 p.Q257* 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 18 0 0.00 4 5 55.56 74 0 0.00 51 17 25.00 NUTM2B 0 genome.wustl.edu 37 10 81463657 81463657 + Missense_Mutation SNP T T C TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 10 81463657 81463657 T C SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known missense c.292 p.S98P 0.000 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 54 0 0.00 19 7 26.92 19 0 0.00 15 4 21.05 SLC35A5 0 genome.wustl.edu 37 3 112300024 112300024 + Splice_Site SNP A A G TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 3 112300024 112300024 A G SNP SLC35A5 ENST00000261034 human ensembl 74_37 +1 known splice_site c.590-2 e6-2 0.998 - - - no_errors SLC35A5 HGNC ENSG00000138459 tier1 - - 39 0 0.00 20 6 23.08 116 1 0.85 50 18 26.47 SMCR5 0 genome.wustl.edu 37 17 17682439 17682442 + R DEL ACAC ACAC - TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 ACAC ACAC ACAC - ACAC ACAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 17 17682439 17682442 ACAC - DEL SMCR5 ENST00000543475 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.004:0.000:0.001 - - - no_errors SMCR5 HGNC ENSG00000226746 tier1 45 0 0.00 16 8 33.33 107 0 0.00 87 19 17.92 CHM 0 genome.wustl.edu 37 X 85282554 85282554 + Silent SNP A A C TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e X 85282554 85282554 A C SNP CHM ENST00000357749 human ensembl 74_37 -1 known silent c.57 p.P19 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 - - 141 0 0.00 11 67 85.90 24 0 0.00 3 14 82.35 SHROOM2 0 genome.wustl.edu 37 X 9862480 9862480 + Missense_Mutation SNP G G A TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e X 9862480 9862480 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.532 p.V178I 0.932 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 12 0 0.00 2 6 75.00 14 0 0.00 5 16 76.19 ZNF853 0 genome.wustl.edu 37 7 6661387 6661389 + In_Frame_Del DEL GCA GCA - TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 7 6661387 6661389 GCA - DEL ZNF853 ENST00000457543 human ensembl 74_37 +1 known in_frame_del c.765_767 p.Q259in_frame_del 0.002:0.000:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF853 HGNC ENSG00000236609 tier1 47 0 0.00 21 2 8.70 16 0 0.00 7 0 0.00 MUC4 0 genome.wustl.edu 37 3 195515372 195515372 + Missense_Mutation SNP C C T TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 3 195515372 195515372 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.3079 p.V1027I 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 86 0 0.00 37 4 9.76 2 0 0.00 1 0 0.00 CLVS1 0 genome.wustl.edu 37 8 62412295 62412295 + R DEL T T - TCGA-DX-AB36-01A-11D-A417-09 TCGA-DX-AB36-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f562dc7-35c9-49e0-8e0c-0832529d5c56 93f73315-178e-4e78-bd48-5523cfe9495e 8 62412295 62412295 T - DEL CLVS1 ENST00000518858 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CLVS1 HGNC ENSG00000177182 tier1 48 0 0.00 23 2 8.00 79 0 0.00 65 2 2.99