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 CTTNBP2 0 genome.wustl.edu 37 7 117364695 117364695 + Missense_Mutation SNP C C G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 7 117364695 117364695 C G SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.4353 p.E1451D 0.743 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 tier1 - - 33 0 0.00 31 22 41.51 95 0 0.00 84 37 30.33 SCN9A 0 genome.wustl.edu 37 2 167138319 167138319 + Splice_Site SNP C C A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 2 167138319 167138319 C A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known splice_site c.1978-1 e12-1 1.000 - - - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 35 0 0.00 31 14 31.11 57 0 0.00 29 18 38.30 ABCB1 0 genome.wustl.edu 37 7 87175278 87175278 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 7 87175278 87175278 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.1788 p.D596 0.998 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 rs201194764 - 21 0 0.00 19 13 40.62 117 0 0.00 56 50 47.17 OS9 0 genome.wustl.edu 37 12 58112779 58112779 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 58112779 58112779 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1414 p.E472K 0.992 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 23 0 0.00 226 103 31.31 69 0 0.00 572 272 32.23 SHCBP1L 0 genome.wustl.edu 37 1 182908516 182908516 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 182908516 182908516 G T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.871 p.Q291K 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 tier1 - - 65 0 0.00 32 18 36.00 90 0 0.00 57 19 25.00 AFF2 0 genome.wustl.edu 37 X 148037966 148037966 + Silent SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 X 148037966 148037966 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2391 p.N797 0.004 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 28 0 0.00 21 22 51.16 44 0 0.00 30 21 41.18 REXO1 0 genome.wustl.edu 37 19 1819988 1819988 + Silent SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 19 1819988 1819988 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.2595 p.V865 1.000 NULL pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 61 0 0.00 406 119 22.62 45 0 0.00 263 72 21.43 ZFHX2 0 genome.wustl.edu 37 14 23991278 23991278 + Missense_Mutation SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 14 23991278 23991278 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.7612 p.A2538T 0.986 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 42 0 0.00 33 15 31.25 56 0 0.00 44 13 22.81 LAMB4 0 genome.wustl.edu 37 7 107732113 107732113 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 7 107732113 107732113 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known silent c.1659 p.Y553 0.796 smart_EGF_laminin,pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 39 0 0.00 36 6 14.29 81 0 0.00 79 9 10.23 RANBP17 0 genome.wustl.edu 37 5 170336734 170336734 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 5 170336734 170336734 G A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.559 p.D187N 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 61 0 0.00 60 6 9.09 84 0 0.00 45 9 16.67 ENSG00000226113 0 genome.wustl.edu 37 10 38599071 38599071 + R SNP A A T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 10 38599071 38599071 A T SNP ENSG00000226113 ENST00000450980 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000226113 tier1 - - 68 0 0.00 58 21 26.58 73 0 0.00 70 15 17.65 INTS10 0 genome.wustl.edu 37 8 19677110 19677110 + Missense_Mutation SNP T T C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 8 19677110 19677110 T C SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.224 p.V75A 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 - - 40 0 0.00 23 11 32.35 79 0 0.00 49 18 26.87 ZNHIT2 0 genome.wustl.edu 37 11 64884315 64884315 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 11 64884315 64884315 G A SNP ZNHIT2 ENST00000310597 human ensembl 74_37 -1 known silent c.811 p.L271 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT2 HGNC ENSG00000174276 tier1 - - 28 0 0.00 34 15 30.61 8 0 0.00 11 4 26.67 MYH13 0 genome.wustl.edu 37 17 10267836 10267836 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 17 10267836 10267836 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.12 p.D4 0.658 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 62 0 0.00 42 30 41.67 62 1 1.59 38 35 47.95 CSNK1G3 0 genome.wustl.edu 37 5 122881404 122881404 + Missense_Mutation SNP C C G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 5 122881404 122881404 C G SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known missense c.47 p.A16G 1.000 NULL pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC ENSG00000151292 tier1 - - 52 0 0.00 64 16 20.00 104 0 0.00 62 20 24.39 ZC3H12A 0 genome.wustl.edu 37 1 37947330 37947330 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 37947330 37947330 G T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.712 p.G238W 0.999 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 tier1 - - 49 0 0.00 58 34 36.96 89 1 1.11 83 37 30.83 TMEM233 0 genome.wustl.edu 37 12 120031683 120031683 + Missense_Mutation SNP C C G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 120031683 120031683 C G SNP TMEM233 ENST00000426426 human ensembl 74_37 +1 known missense c.30 p.F10L 0.992 NULL pfam_CD225/Dispanin_fam - no_errors TMEM233 HGNC ENSG00000224982 tier1 - - 44 0 0.00 74 15 16.85 19 0 0.00 35 5 12.50 SP1 0 genome.wustl.edu 37 12 53777058 53777058 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 53777058 53777058 G T SNP SP1 ENST00000327443 human ensembl 74_37 +1 known missense c.1327 p.V443F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 tier1 - - 37 0 0.00 18 18 50.00 116 0 0.00 72 61 45.86 PRKDC 0 genome.wustl.edu 37 8 48845610 48845610 + Silent SNP T T G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 8 48845610 48845610 T G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.1746 p.T582 0.723 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 36 0 0.00 46 10 17.86 92 0 0.00 80 22 21.57 PTPRVP 0 genome.wustl.edu 37 1 202155418 202155418 + R SNP G G C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 202155418 202155418 G C SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.568 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 26 0 0.00 14 10 41.67 43 0 0.00 31 10 24.39 OS9 0 genome.wustl.edu 37 12 58113952 58113952 + Silent SNP G G C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 58113952 58113952 G C SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.1671 p.L557 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 37 0 0.00 371 266 41.76 50 0 0.00 465 256 35.46 MAPK9 0 genome.wustl.edu 37 5 179674413 179674413 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 5 179674413 179674413 G A SNP MAPK9 ENST00000425491 human ensembl 74_37 -1 known silent c.714 p.P238 0.944 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 tier1 rs200094588 GMAF=0.0005 59 0 0.00 44 33 42.86 74 0 0.00 40 44 52.38 OS9 0 genome.wustl.edu 37 12 58111971 58111971 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 58111971 58111971 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1177 p.A393T 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 13 0 0.00 154 92 37.40 63 0 0.00 447 282 38.68 KDM4B 0 genome.wustl.edu 37 19 5133999 5133999 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 19 5133999 5133999 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2012 p.R671K 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 74 0 0.00 65 36 35.64 10 0 0.00 14 7 33.33 TUB 0 genome.wustl.edu 37 11 8119343 8119343 + Missense_Mutation SNP G G C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 11 8119343 8119343 G C SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1133 p.R378P 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 43 0 0.00 28 18 39.13 103 0 0.00 55 24 30.38 HSP90AA1 0 genome.wustl.edu 37 14 102548534 102548534 + Missense_Mutation SNP T T G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 14 102548534 102548534 T G SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.2369 p.E790A 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 tier1 - - 93 0 0.00 72 47 39.50 58 0 0.00 38 36 48.65 ARID2 0 genome.wustl.edu 37 12 46244344 46244344 + Missense_Mutation SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 46244344 46244344 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.2438 p.S813F 1.000 NULL pfam_ARID/BRIGHT_D-bd,pfam_D-bd_RFX,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 39 0 0.00 46 14 23.33 96 0 0.00 53 17 24.29 MTND1P15 0 genome.wustl.edu 37 17 22024142 22024142 + R SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 17 22024142 22024142 C T SNP MTND1P15 ENST00000579693 human ensembl 74_37 +1 known rna NULL NULL 0.125 - - - no_errors MTND1P15 HGNC ENSG00000264168 tier1 - - 16 0 0.00 19 8 29.63 112 0 0.00 91 31 25.41 OS9 0 genome.wustl.edu 37 12 58111997 58111997 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 58111997 58111997 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.1203 p.E401 0.006 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 15 0 0.00 173 103 37.32 64 0 0.00 472 257 35.16 C16orf58 0 genome.wustl.edu 37 16 31512021 31512021 + Nonsense_Mutation SNP A A T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 16 31512021 31512021 A T SNP C16orf58 ENST00000565128 human ensembl 74_37 -1 known nonsense c.332 p.L111* 1.000 NULL pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 tier1 - - 25 0 0.00 10 16 61.54 42 0 0.00 18 35 66.04 FMN1 0 genome.wustl.edu 37 15 33359026 33359026 + Missense_Mutation SNP G G C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 15 33359026 33359026 G C SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1060 p.P354A 0.997 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 64 0 0.00 44 14 24.14 58 0 0.00 28 14 33.33 MMD2 0 genome.wustl.edu 37 7 4959908 4959908 + Missense_Mutation SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 7 4959908 4959908 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.184 p.D62N 0.991 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 tier1 - - 53 0 0.00 60 10 14.08 51 0 0.00 54 11 16.92 LSM14A 0 genome.wustl.edu 37 19 34685495 34685495 + Missense_Mutation SNP T T G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 19 34685495 34685495 T G SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known missense c.234 p.C78W 1.000 superfamily_LSM_dom pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 tier1 - - 65 0 0.00 68 22 24.44 132 0 0.00 100 34 25.37 TTN 0 genome.wustl.edu 37 2 179408710 179408710 + Missense_Mutation SNP T T A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 2 179408710 179408710 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88457 p.D29486V 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 58 0 0.00 28 37 56.06 83 0 0.00 26 22 45.83 SARS 0 genome.wustl.edu 37 1 109778719 109778719 + Missense_Mutation SNP A A G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 109778719 109778719 A G SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.1090 p.I364V 1.000 pfam_aa-tR-synt_IIb_cons-dom,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,prints_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1 pfam_aa-tR-synt_IIb_cons-dom,pfam_Ser-tR-synth_1_N,superfamily_tR-bd_arm,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,prints_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 tier1 - - 59 0 0.00 42 14 25.00 88 0 0.00 84 19 18.45 GAS2 0 genome.wustl.edu 37 11 22770671 22770671 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 11 22770671 22770671 G T SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known missense c.479 p.G160V 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 tier1 - - 47 0 0.00 34 12 26.09 97 0 0.00 69 14 16.87 CSMD3 0 genome.wustl.edu 37 8 113668387 113668387 + Silent SNP A A G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 8 113668387 113668387 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.3000 p.Y1000 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 30 0 0.00 13 11 45.83 66 0 0.00 23 31 57.41 CPA6 0 genome.wustl.edu 37 8 68423882 68423882 + Missense_Mutation SNP A A G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 8 68423882 68423882 A G SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.326 p.I109T 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 tier1 rs151119622 GMAF=0.0005 21 0 0.00 11 15 57.69 66 0 0.00 27 33 54.10 CAPS2 0 genome.wustl.edu 37 12 75687052 75687052 + Missense_Mutation SNP A A T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 12 75687052 75687052 A T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.1197 p.D399E 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 51 0 0.00 41 15 26.32 56 0 0.00 77 14 15.38 SGSH 0 genome.wustl.edu 37 17 78184600 78184602 + In_Frame_Del DEL ACG ACG - TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 ACG ACG ACG - ACG ACG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 17 78184600 78184602 ACG - DEL SGSH ENST00000326317 human ensembl 74_37 -1 known in_frame_del c.1160_1158 p.V387in_frame_del 0.995:0.845:0.006 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 tier1 25 0 0.00 45 16 26.23 66 0 0.00 80 20 20.00 CCDC135 0 genome.wustl.edu 37 16 57760001 57760001 + Missense_Mutation SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 16 57760001 57760001 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1780 p.R594C 0.997 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 tier1 - - 44 0 0.00 13 15 53.57 31 0 0.00 8 9 52.94 H6PD 0 genome.wustl.edu 37 1 9322245 9322245 + Silent SNP G G C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 9322245 9322245 G C SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.873 p.R291 0.429 pfam_G6P_DH_C pfam_G6P_DH_C,pfam_G6P_DH_D-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 tier1 - - 41 0 0.00 29 14 32.56 15 0 0.00 9 17 65.38 H6PD 0 genome.wustl.edu 37 1 9322246 9322246 + Missense_Mutation SNP C C A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 9322246 9322246 C A SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.874 p.H292N 0.489 pfam_G6P_DH_C pfam_G6P_DH_C,pfam_G6P_DH_D-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 tier1 - - 41 0 0.00 30 14 31.82 15 0 0.00 8 18 69.23 HDAC6 0 genome.wustl.edu 37 X 48682631 48682631 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 X 48682631 48682631 G T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.3548 p.G1183V 0.932 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 tier1 - - 18 0 0.00 1 26 96.30 52 0 0.00 9 44 83.02 ABCB5 0 genome.wustl.edu 37 7 20725334 20725334 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 7 20725334 20725334 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.550 p.D184N 0.981 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 47 0 0.00 46 10 17.86 51 0 0.00 57 6 9.52 MAP2K3 0 genome.wustl.edu 37 17 21204268 21204268 + Missense_Mutation SNP T T C TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 17 21204268 21204268 T C SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.362 p.F121S 1.000 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_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 MAP2K3 HGNC ENSG00000034152 tier1 - - 46 0 0.00 76 10 11.63 52 0 0.00 78 4 4.88 SAMHD1 0 genome.wustl.edu 37 20 35545145 35545145 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 20 35545145 35545145 G A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1042 p.R348C 0.998 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 tier1 - - 37 0 0.00 48 10 17.24 85 1 1.16 135 10 6.90 TAPT1 0 genome.wustl.edu 37 4 16165055 16165055 + Frame_Shift_Del DEL A A - TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 4 16165055 16165055 A - DEL TAPT1 ENST00000405303 human ensembl 74_37 -1 known frame_shift_del c.1580 p.L527fs 1.000 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 tier1 42 0 0.00 66 7 9.59 98 0 0.00 135 11 7.53 ACADVL 0 genome.wustl.edu 37 17 7123240 7123241 + R INS - - GGGCGTGCCGGACGC TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 17 7123240 7123241 - GGGCGTGCCGGACGC INS ACADVL ENST00000577857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ACADVL HGNC ENSG00000072778 tier1 5 0 0.00 2 0 0.00 5 0 0.00 2 0 0.00 APCDD1 0 genome.wustl.edu 37 18 10471744 10471744 + Missense_Mutation SNP T T G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 18 10471744 10471744 T G SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known missense c.460 p.C154G 0.997 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 tier1 - - 43 0 0.00 35 8 18.60 8 0 0.00 8 1 11.11 PPP1R16A 0 genome.wustl.edu 37 8 145724311 145724311 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 8 145724311 145724311 G T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.343 p.D115Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 44 0 0.00 15 3 16.67 10 0 0.00 3 0 0.00 ENSG00000266060 0 genome.wustl.edu 37 9 137741779 137741779 + R SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 9 137741779 137741779 G T SNP ENSG00000266060 ENST00000583817 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL603650.4 Clone_based_ensembl_gene ENSG00000266060 tier1 - - 27 0 0.00 7 7 50.00 0 0 0.00 0 0 0.00 HIST2H2BE 0 genome.wustl.edu 37 1 149857909 149857909 + Missense_Mutation SNP C C G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 149857909 149857909 C G SNP HIST2H2BE ENST00000369155 human ensembl 74_37 -1 known missense c.282 p.E94D 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 tier1 - - 88 0 0.00 68 10 12.82 0 0 0.00 2 0 0.00 LOC100505679 0 genome.wustl.edu 37 15 84850838 84850838 + Silent SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 15 84850838 84850838 G A SNP LOC100505679 ENST00000558195 human ensembl 74_37 +1 putative silent c.339 p.V113 0.990 NULL NULL - no_errors RP11-182J1.16 Clone_based_vega_gene ENSG00000259511 tier1 - - 36 0 0.00 12 3 20.00 0 0 0.00 0 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143378256 143378256 + R SNP A A G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 143378256 143378256 A G SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.450 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 184 1 0.54 113 40 26.14 0 0 0.00 0 1 100.00 MT-RNR1 0 genome.wustl.edu 37 MT 834 834 + R SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 MT 834 834 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 139 0 0.00 8 28 77.78 3 0 0.00 0 1 100.00 NBPF10 0 genome.wustl.edu 37 1 145302775 145302775 + Missense_Mutation SNP T T G TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 145302775 145302775 T G SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1213 p.Y405D 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 102 0 0.00 62 13 17.33 0 0 0.00 0 0 0.00 RGPD3 0 genome.wustl.edu 37 2 107068731 107068731 + Missense_Mutation SNP C C T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 2 107068731 107068731 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.712 p.A238T 0.999 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 rs200225138 - 23 0 0.00 35 8 18.60 0 0 0.00 0 0 0.00 POTEG 0 genome.wustl.edu 37 14 19553472 19553472 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 14 19553472 19553472 G A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.56 p.G19D 0.007 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 POTEG HGNC ENSG00000222036 tier1 - - 97 0 0.00 114 22 16.18 34 0 0.00 31 3 8.82 KAZN 0 genome.wustl.edu 37 1 15420846 15420846 + Missense_Mutation SNP G G A TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0539c9cf-9cba-4257-b3e7-365a4b71c8fd ea3ed74e-abbc-4b2b-915f-e90ad2399915 1 15420846 15420846 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.1393 p.V465I 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 tier1 rs200509529 - 61 0 0.00 101 29 22.31 39 0 0.00 24 2 7.69