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 FBXO42 0 genome.wustl.edu 37 1 16577304 16577304 + Missense_Mutation SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 16577304 16577304 C T SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.2015 p.G672E 0.999 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 73 0 0.00 50 10 16.67 121 0 0.00 69 22 24.18 PKN1 0 genome.wustl.edu 37 19 14581437 14581437 + Silent SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 19 14581437 14581437 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.2505 p.N835 0.889 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 tier1 - - 52 0 0.00 57 13 18.57 43 0 0.00 39 9 18.75 TTC6 0 genome.wustl.edu 37 14 38207994 38207994 + Missense_Mutation SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 14 38207994 38207994 C T SNP TTC6 ENST00000553443 human ensembl 74_37 +1 novel missense c.1997 p.S666F 0.009 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 15 0 0.00 26 5 15.62 118 0 0.00 178 41 18.72 PCDHA5 0 genome.wustl.edu 37 5 140202722 140202722 + Silent SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 5 140202722 140202722 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1362 p.F454 0.085 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 114 0 0.00 113 46 28.93 27 0 0.00 22 6 21.43 CELSR2 0 genome.wustl.edu 37 1 109813851 109813851 + Silent SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 109813851 109813851 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.7609 p.L2537 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 32 0 0.00 30 5 14.29 57 0 0.00 38 13 25.49 FAM47C 0 genome.wustl.edu 37 X 37027132 37027132 + Missense_Mutation SNP A A T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c X 37027132 37027132 A T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.649 p.T217S 0.964 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 44 0 0.00 59 7 10.45 12 0 0.00 15 3 16.67 VCAM1 0 genome.wustl.edu 37 1 101200244 101200244 + Missense_Mutation SNP T T C TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 101200244 101200244 T C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1979 p.L660S 0.325 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 - - 31 0 0.00 28 5 15.15 151 0 0.00 119 19 13.67 TTC6 0 genome.wustl.edu 37 14 38208169 38208169 + Silent SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 14 38208169 38208169 C T SNP TTC6 ENST00000553443 human ensembl 74_37 +1 novel silent c.2172 p.I724 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 28 0 0.00 60 16 21.05 106 0 0.00 157 45 22.28 TLL1 0 genome.wustl.edu 37 4 166914025 166914025 + Missense_Mutation SNP G G A TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 4 166914025 166914025 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.350 p.R117K 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 43 0 0.00 33 10 23.26 137 0 0.00 107 21 16.15 C9orf152 0 genome.wustl.edu 37 9 112963433 112963433 + Missense_Mutation SNP A A T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 9 112963433 112963433 A T SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known missense c.515 p.I172N 0.001 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 tier1 - - 40 0 0.00 40 5 11.11 83 0 0.00 40 5 11.11 CHRM5 0 genome.wustl.edu 37 15 34355670 34355670 + Missense_Mutation SNP G G A TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 15 34355670 34355670 G A SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known missense c.752 p.R251K 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 tier1 - - 23 0 0.00 37 7 15.91 32 0 0.00 27 5 15.62 ZNF488 0 genome.wustl.edu 37 10 48370980 48370980 + Missense_Mutation SNP G G A TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 10 48370980 48370980 G A SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known missense c.448 p.V150M 0.801 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 tier1 - - 33 0 0.00 31 4 11.43 70 0 0.00 62 15 19.23 FMO6P 0 genome.wustl.edu 37 1 171116874 171116874 + Silent SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 171116874 171116874 C T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel silent c.594 p.D198 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 35 0 0.00 53 6 10.17 89 0 0.00 102 6 5.56 PRKCB 0 genome.wustl.edu 37 16 24202517 24202517 + Missense_Mutation SNP G G A TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 16 24202517 24202517 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1829 p.R610H 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 45 0 0.00 29 5 14.71 149 0 0.00 115 4 3.36 PABPC4L 0 genome.wustl.edu 37 4 135121699 135121699 + Missense_Mutation SNP C C G TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 4 135121699 135121699 C G SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.650 p.G217A 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 tier1 - - 70 0 0.00 43 4 8.51 82 0 0.00 72 4 5.19 C6orf10 0 genome.wustl.edu 37 6 32261597 32261597 + Missense_Mutation SNP T T C TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 6 32261597 32261597 T C SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known missense c.853 p.K285E 0.001 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 tier1 - - 55 0 0.00 62 9 12.68 140 0 0.00 88 9 9.28 TP53 0 genome.wustl.edu 37 17 7577010 7577018 + Splice_Site DEL CTTGCTTAC CTTGCTTAC - TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 CTTGCTTAC CTTGCTTAC CTTGCTTAC - CTTGCTTAC CTTGCTTAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 17 7577010 7577018 CTTGCTTAC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site_del c.919+1_919+1 e7+1 0.000:0.000:0.001:0.070:0.132:0.231:0.250:0.853:0.976 - - - no_errors TP53 HGNC ENSG00000141510 tier1 66 0 0.00 63 6 8.70 66 0 0.00 63 6 8.70 ENSG00000216113 0 genome.wustl.edu 37 8 104863873 104863878 + R DEL ACACAC ACACAC - TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 ACACAC ACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 8 104863873 104863878 ACACAC - DEL ENSG00000216113 ENST00000401294 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors AP001572.1 Clone_based_ensembl_gene ENSG00000216113 tier1 10 0 0.00 2 0 0.00 10 0 0.00 2 0 0.00 LOC100128770 0 genome.wustl.edu 37 16 3085556 3085556 + R SNP C C G TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 16 3085556 3085556 C G SNP LOC100128770 ENST00000382225 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.5 Clone_based_vega_gene ENSG00000205890 tier1 - - 39 0 0.00 47 12 20.00 14 0 0.00 8 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102299761 102299761 + R SNP G G A TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 15 102299761 102299761 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 14 0 0.00 13 6 31.58 0 0 0.00 0 0 0.00 ENSG00000221684 0 genome.wustl.edu 37 X 70979259 70979260 + R INS - - GC TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c X 70979259 70979260 - GC INS ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 9 0 0.00 10 6 37.50 1 0 0.00 0 0 0.00 LOC100293748 0 genome.wustl.edu 37 1 149250592 149250592 + R SNP G G C TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 149250592 149250592 G C SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 rs114062375 - 8 0 0.00 2 6 75.00 1 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 2301 2301 + R SNP T T C TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c MT 2301 2301 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 51 0 0.00 47 12 20.34 0 0 0.00 4 0 0.00 POTEM 0 genome.wustl.edu 37 14 20012850 20012850 + Silent SNP A A T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 14 20012850 20012850 A T SNP POTEM ENST00000547722 human ensembl 74_37 -1 known silent c.906 p.P302 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 rs201036322 - 17 0 0.00 10 4 28.57 0 0 0.00 0 0 0.00 WASH6P 0 genome.wustl.edu 37 X 155250570 155250570 + R SNP C C G TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c X 155250570 155250570 C G SNP WASH6P ENST00000476066 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 55 0 0.00 64 14 17.95 0 0 0.00 0 0 0.00 DMD 0 genome.wustl.edu 37 X 32583996 32583996 + Silent SNP A A T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c X 32583996 32583996 A T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.1815 p.V605 0.611 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 30 0 0.00 32 5 13.51 65 0 0.00 65 3 4.41 OR2T2 0 genome.wustl.edu 37 1 248616790 248616790 + Missense_Mutation SNP C C T TCGA-MB-A5Y9-01A-11D-A29N-09 TCGA-MB-A5Y9-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 055a030d-bb19-4224-98bf-cb860ff64b9d 109e7716-d7ac-4834-a63d-f88057eb4e6c 1 248616790 248616790 C T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.692 p.S231F 0.734 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 - - 32 0 0.00 27 7 20.59 24 0 0.00 22 2 8.33