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 MT-ND5 4540 genome.wustl.edu 36 MT 12975 12975 + Missense_Mutation SNP T T C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 MT 12975 12975 T C SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.638 p.L213P NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors SDK1 221935 genome.wustl.edu 36 7 4274848 4274848 + Silent SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 7 4274848 4274848 C T SNP SDK1 NM_001079653 human genbank 54_36p +1 validated silent c.1980 p.L660 0.004 NULL superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors SNORD10 0 genome.wustl.edu 36 17 7420877 7420877 + RNA SNP T T G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 7420877 7420877 T G SNP SNORD10 NR_002604 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - no_errors AP1M2 10053 genome.wustl.edu 36 19 10555741 10555741 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 10555741 10555741 C G SNP AP1M2 NM_005498 human genbank 54_36p -1 reviewed missense c.48 p.L16F 1.000 superfamily_SNARE-like superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_2 - no_errors ROCK2 9475 genome.wustl.edu 36 2 11273746 11273746 + Missense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 2 11273746 11273746 G C SNP ROCK2 NM_004850 human genbank 54_36p -1 reviewed missense c.1450 p.L484V 1.000 HMMPfam_HR1 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,HMMPfam_HR1,HMMPfam_Rho_Binding,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMPfam_C1_1,HMMSmart_SM00109 - no_errors ESF1 51575 genome.wustl.edu 36 20 13646050 13646050 + Missense_Mutation SNP T T A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 20 13646050 13646050 T A SNP ESF1 NM_016649 human genbank 54_36p -1 provisional missense c.2227 p.M743L 0.980 NULL NULL - no_errors LOC729404 729404 genome.wustl.edu 36 17 19955908 19955908 + RNA SNP T T C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 19955908 19955908 T C SNP LOC729404 XR_015968 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LOC81691 81691 genome.wustl.edu 36 16 20732102 20732102 + Silent SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 16 20732102 20732102 C G SNP LOC81691 NM_030941 human genbank 54_36p +1 validated silent c.228 p.G76 0.936 NULL superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD - no_errors LDLRAP1 26119 genome.wustl.edu 36 1 25756337 25756337 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 1 25756337 25756337 C T SNP LDLRAP1 NM_015627 human genbank 54_36p +1 reviewed missense c.451 p.R151W 1.000 superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID - no_errors MAGEB6 158809 genome.wustl.edu 36 X 26122909 26122909 + Missense_Mutation SNP T T C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 26122909 26122909 T C SNP MAGEB6 NM_173523 human genbank 54_36p +1 reviewed missense c.1025 p.V342A 0.006 HMMPfam_MAGE HMMPfam_MAGE - no_errors HNF1B 6928 genome.wustl.edu 36 17 33167777 33167777 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 33167777 33167777 C T SNP HNF1B NM_000458 human genbank 54_36p -1 validated missense c.695 p.R232H 1.000 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C - no_errors C20orf132 140699 genome.wustl.edu 36 20 35216926 35216926 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 20 35216926 35216926 C G SNP C20orf132 NM_152503 human genbank 54_36p -1 validated missense c.788 p.S263T 0.334 superfamily_ARM repeat superfamily_ARM repeat - no_errors GPR34 2857 genome.wustl.edu 36 X 41440285 41440285 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 41440285 41440285 G A SNP GPR34 NM_001097579 human genbank 54_36p +1 validated missense c.455 p.R152H 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ATP5A1 498 genome.wustl.edu 36 18 41923955 41923955 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 18 41923955 41923955 C T SNP ATP5A1 NM_001001937 human genbank 54_36p -1 reviewed missense c.315 p.M105I 1.000 superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase,HMMPfam_ATP-synt_ab_N superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase,HMMPfam_ATP-synt_ab_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ATP-synt_ab,PatternScan_ATPASE_ALPHA_BETA,superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase,HMMPfam_ATP-synt_ab_C - no_errors TSPAN18 90139 genome.wustl.edu 36 11 44898067 44898067 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 11 44898067 44898067 G A SNP TSPAN18 NM_001031730 human genbank 54_36p +1 provisional missense c.556 p.G186R 0.667 HMMPfam_Tetraspannin,superfamily_Tetraspanin HMMPfam_Tetraspannin,PatternScan_TM4_1,PatternScan_ALBUMIN,superfamily_Tetraspanin - no_errors ANUBL1 93550 genome.wustl.edu 36 10 45455336 45455336 + Silent SNP A A G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 10 45455336 45455336 A G SNP ANUBL1 NM_174890 human genbank 54_36p -1 validated silent c.651 p.N217 1.000 NULL HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMSmart_SM00154,HMMPfam_zf-AN1 - no_errors LRRC2 79442 genome.wustl.edu 36 3 46561719 46561719 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 3 46561719 46561719 C A SNP LRRC2 NM_024512 human genbank 54_36p -1 validated nonsense c.154 p.E52* 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1 - no_errors CA10 56934 genome.wustl.edu 36 17 47180007 47180007 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 47180007 47180007 C G SNP CA10 NM_001082533 human genbank 54_36p -1 reviewed missense c.450 p.Q150H 1.000 superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase - no_errors SCAP 22937 genome.wustl.edu 36 3 47430536 47430536 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 3 47430536 47430536 C T SNP SCAP NM_012235 human genbank 54_36p -1 reviewed missense c.3652 p.G1218S 0.998 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_Multidrug efflux transporter AcrB transmembrane domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors CLCN5 1184 genome.wustl.edu 36 X 49741560 49741560 + Missense_Mutation SNP C C A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 49741560 49741560 C A SNP CLCN5 NM_000084 human genbank 54_36p +1 reviewed missense c.1582 p.L528M 1.000 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS - no_errors CSRNP2 81566 genome.wustl.edu 36 12 49756511 49756511 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 12 49756511 49756511 C G SNP CSRNP2 NM_030809 human genbank 54_36p -1 provisional missense c.101 p.S34T 1.000 NULL NULL - no_errors KRT73 319101 genome.wustl.edu 36 12 51298411 51298411 + Silent SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 12 51298411 51298411 C G SNP KRT73 NM_175068 human genbank 54_36p -1 provisional silent c.165 p.R55 0.931 NULL HMMPfam_Filament,PatternScan_IF - no_errors ASAH2 56624 genome.wustl.edu 36 10 51673003 51673003 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 10 51673003 51673003 C T SNP ASAH2 NM_019893 human genbank 54_36p -1 validated missense c.418 p.D140N 0.999 HMMPfam_Ceramidase_alk HMMPfam_Ceramidase_alk - no_errors CPT2 1376 genome.wustl.edu 36 1 53451632 53451632 + Missense_Mutation SNP A A G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 1 53451632 53451632 A G SNP CPT2 NM_000098 human genbank 54_36p +1 reviewed missense c.1754 p.N585S 1.000 HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors PPP1R15A 23645 genome.wustl.edu 36 19 54069401 54069401 + Missense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 54069401 54069401 G C SNP PPP1R15A NM_014330 human genbank 54_36p +1 validated missense c.1099 p.D367H 0.022 NULL HMMPfam_PP1c_bdg - no_errors PPP1R15A 23645 genome.wustl.edu 36 19 54069518 54069518 + Missense_Mutation SNP G G T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 54069518 54069518 G T SNP PPP1R15A NM_014330 human genbank 54_36p +1 validated missense c.1216 p.D406Y 0.011 NULL HMMPfam_PP1c_bdg - no_errors PPP1R15A 23645 genome.wustl.edu 36 19 54069769 54069769 + Missense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 54069769 54069769 G C SNP PPP1R15A NM_014330 human genbank 54_36p +1 validated missense c.1467 p.E489D 0.000 NULL HMMPfam_PP1c_bdg - no_errors PPP1R15A 23645 genome.wustl.edu 36 19 54069839 54069839 + Missense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 54069839 54069839 G C SNP PPP1R15A NM_014330 human genbank 54_36p +1 validated missense c.1537 p.V513L 0.000 NULL HMMPfam_PP1c_bdg - no_errors PPP1R15A 23645 genome.wustl.edu 36 19 54070722 54070722 + Missense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 19 54070722 54070722 G C SNP PPP1R15A NM_014330 human genbank 54_36p +1 validated missense c.1705 p.V569L 0.992 HMMPfam_PP1c_bdg HMMPfam_PP1c_bdg - no_errors TRO 7216 genome.wustl.edu 36 X 54968833 54968833 + Silent SNP A A C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 54968833 54968833 A C SNP TRO NM_001039705 human genbank 54_36p +1 reviewed silent c.1569 p.I523 0.999 HMMPfam_MAGE HMMPfam_MAGE - no_errors MYO1A 4640 genome.wustl.edu 36 12 55723167 55723167 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 12 55723167 55723167 G A SNP MYO1A NM_005379 human genbank 54_36p -1 reviewed missense c.1054 p.R352C 1.000 HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_TH1 - no_errors CTDSP2 10106 genome.wustl.edu 36 12 56507097 56507097 + Missense_Mutation SNP C C A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 12 56507097 56507097 C A SNP CTDSP2 NM_005730 human genbank 54_36p -1 validated missense c.303 p.R101S 1.000 superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577 superfamily_HAD-like,HMMPfam_NIF,HMMSmart_SM00577 - no_errors ACTBL2 345651 genome.wustl.edu 36 5 56813511 56813511 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 5 56813511 56813511 C G SNP ACTBL2 NM_001017992 human genbank 54_36p -1 validated missense c.781 p.A261P 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors SPIN3 169981 genome.wustl.edu 36 X 57037597 57037597 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 57037597 57037597 G A SNP SPIN3 NM_001010862 human genbank 54_36p -1 validated missense c.509 p.P170L 1.000 HMMPfam_Spin-Ssty HMMPfam_Spin-Ssty - no_errors BRIP1 83990 genome.wustl.edu 36 17 57231400 57231400 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 57231400 57231400 C T SNP BRIP1 NM_032043 human genbank 54_36p -1 reviewed missense c.1183 p.A395T 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMSmart_SM00487,HMMPfam_DEAD_2 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMSmart_SM00487,HMMPfam_DEAD_2,HMMSmart_SM00491 - no_errors TMPRSS11A 339967 genome.wustl.edu 36 4 68480322 68480322 + Missense_Mutation SNP G G T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 4 68480322 68480322 G T SNP TMPRSS11A NM_182606 human genbank 54_36p -1 validated missense c.313 p.Q105K 0.540 superfamily_SEA domain,HMMPfam_SEA superfamily_SEA domain,HMMPfam_SEA,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors KIAA0913 23053 genome.wustl.edu 36 10 75227663 75227663 + Missense_Mutation SNP A A T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 10 75227663 75227663 A T SNP KIAA0913 NM_015037 human genbank 54_36p +1 validated missense c.3781 p.S1261C 1.000 NULL HMMPfam_SWIM - no_errors ACSBG1 23205 genome.wustl.edu 36 15 76258057 76258057 + Silent SNP G A A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 15 76258057 76258057 G A SNP ACSBG1 NM_015162 human genbank 54_36p -1 reviewed silent c.1656 p.G552 0.995 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors VASH1 22846 genome.wustl.edu 36 14 76307320 76307320 + Missense_Mutation SNP A A G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 14 76307320 76307320 A G SNP VASH1 NM_014909 human genbank 54_36p +1 validated missense c.433 p.K145E 1.000 NULL NULL - no_errors LPAR4 2846 genome.wustl.edu 36 X 77897582 77897582 + Missense_Mutation SNP C C A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 77897582 77897582 C A SNP LPAR4 NM_005296 human genbank 54_36p +1 reviewed missense c.560 p.T187N 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ROBO1 6091 genome.wustl.edu 36 3 78759328 78759328 + Missense_Mutation SNP T T G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 3 78759328 78759328 T G SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.3708 p.E1236D 0.908 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors BTBD1 53339 genome.wustl.edu 36 15 81509871 81509871 + Missense_Mutation SNP T T C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 15 81509871 81509871 T C SNP BTBD1 NM_025238 human genbank 54_36p -1 reviewed missense c.622 p.M208V 0.952 HMMPfam_BACK superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_PHR - no_errors ABCA4 24 genome.wustl.edu 36 1 94260045 94260045 + Missense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 1 94260045 94260045 C T SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.4718 p.G1573E 0.112 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors RPL30 6156 genome.wustl.edu 36 8 99126421 99126421 + Nonsense_Mutation SNP G G C novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 8 99126421 99126421 G C SNP RPL30 NM_000989 human genbank 54_36p -1 reviewed nonsense c.93 p.Y31* 1.000 superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae,PatternScan_RIBOSOMAL_L30E_1 superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae,PatternScan_RIBOSOMAL_L30E_1,PatternScan_RIBOSOMAL_L30E_2 - no_errors DYNC1H1 1778 genome.wustl.edu 36 14 101563343 101563343 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 14 101563343 101563343 G A SNP DYNC1H1 NM_001376 human genbank 54_36p +1 reviewed missense c.8851 p.A2951T 1.000 superfamily_SSF52540,HMMSmart_AAA HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors POLR3B 55703 genome.wustl.edu 36 12 105419264 105419264 + Silent SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 12 105419264 105419264 C T SNP POLR3B NM_018082 human genbank 54_36p +1 provisional silent c.3018 p.P1006 0.156 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_6 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7 - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110546072 110546072 + Missense_Mutation SNP T T A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 8 110546072 110546072 T A SNP PKHD1L1 NM_177531 human genbank 54_36p +1 validated missense c.7835 p.F2612Y 0.998 NULL superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like - no_errors KCND3 3752 genome.wustl.edu 36 1 112326763 112326763 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 1 112326763 112326763 G A SNP KCND3 NM_004980 human genbank 54_36p -1 reviewed missense c.109 p.R37W 0.995 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors ATRNL1 26033 genome.wustl.edu 36 10 117016357 117016357 + Silent SNP A A G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 10 117016357 117016357 A G SNP ATRNL1 NM_207303 human genbank 54_36p +1 validated silent c.1866 p.E622 0.282 superfamily_Plexin repeat,HMMSmart_SM00423 superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_EGF_2,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Plexin repeat,HMMSmart_SM00423,HMMPfam_PSI,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1 - no_errors DOCK11 139818 genome.wustl.edu 36 X 117586145 117586145 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 117586145 117586145 G A SNP DOCK11 NM_144658 human genbank 54_36p +1 validated missense c.1027 p.E343K 0.989 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_Ded_cyto - no_errors RNF148 378925 genome.wustl.edu 36 7 122129257 122129257 + Missense_Mutation SNP A A T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 7 122129257 122129257 A T SNP RNF148 NM_198085 human genbank 54_36p -1 validated missense c.784 p.F262I 1.000 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 - no_errors GSN 2934 genome.wustl.edu 36 9 123112860 123112860 + Silent SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 9 123112860 123112860 G A SNP GSN NM_000177 human genbank 54_36p +1 reviewed silent c.582 p.G194 0.998 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin - no_errors GRM8 2918 genome.wustl.edu 36 7 126533857 126533857 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 7 126533857 126533857 G A SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.656 p.S219L 1.000 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors FLNC 2318 genome.wustl.edu 36 7 128264793 128264793 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 7 128264793 128264793 C T SNP FLNC NM_001458 human genbank 54_36p +1 reviewed nonsense c.805 p.R269* 0.867 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557 - no_errors OR13H1 347468 genome.wustl.edu 36 X 130506551 130506551 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 130506551 130506551 G A SNP OR13H1 NM_001004486 human genbank 54_36p +1 provisional missense c.823 p.V275M 0.010 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors GRM1 2911 genome.wustl.edu 36 6 146667594 146667594 + Missense_Mutation SNP C C G novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 6 146667594 146667594 C G SNP GRM1 NM_000838 human genbank 54_36p +1 reviewed missense c.1105 p.P369A 0.999 superfamily_SSF53822,HMMPfam_ANF_receptor superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_GluR_Homer-bdg - no_errors LOC729780 729780 genome.wustl.edu 36 1 156431991 156431991 + RNA SNP T T A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 1 156431991 156431991 T A SNP LOC729780 XR_015653 human genbank 54_36p -1 model rna NULL NULL 0.301 - - - pseudogene RAPGEF2 9693 genome.wustl.edu 36 4 160483903 160483903 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 4 160483903 160483903 G A SNP RAPGEF2 NM_014247 human genbank 54_36p +1 validated missense c.2668 p.G890R 1.000 superfamily_Ras_GEF,HMMSmart_RasGEF,HMMPfam_RasGEF superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMPfam_RA,HMMSmart_RA,HMMSmart_RasGEF,HMMPfam_RasGEF - no_errors RPS6KA2 6196 genome.wustl.edu 36 6 166753407 166753407 + Silent SNP C C T rs55690286 unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 6 166753407 166753407 C T SNP RPS6KA2 NM_001006932 human genbank 54_36p -1 reviewed silent c.1797 p.A599 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C - no_errors RFTN2 130132 genome.wustl.edu 36 2 198248320 198248320 + Silent SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 2 198248320 198248320 G A SNP RFTN2 NM_144629 human genbank 54_36p -1 validated silent c.108 p.Y36 1.000 NULL NULL - no_errors GIGYF2 26058 genome.wustl.edu 36 2 233392811 233392811 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 2 233392811 233392811 G A SNP GIGYF2 NM_001103147 human genbank 54_36p +1 validated missense c.2464 p.E822K 1.000 NULL superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF - no_errors LOC643905 643905 genome.wustl.edu 36 2 240630916 240630916 + Missense_Mutation SNP G G A novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 2 240630916 240630916 G A SNP LOC643905 NM_001080835 human genbank 54_36p -1 predicted missense c.157 p.R53W 0.003 NULL NULL - no_errors ZNF263 10127 genome.wustl.edu 36 16 3280128 3280129 + Frame_Shift_Del DEL GA GA - novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 16 3280128 3280129 GA - DEL ZNF263 NM_005741 human genbank 54_36p +1 validated frame_shift_del c.1621_1622 p.R544fs 1.000:1.000 NULL HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 (deletion:cds_exon[3279394,3280559]) no_errors TP53 7157 genome.wustl.edu 36 17 7520044 7520045 + Frame_Shift_Ins INS - - TC novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 17 7520044 7520045 - TC INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.368_367 p.T123fs 0.995:0.986 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors PRSS16 10279 genome.wustl.edu 36 6 27331044 27331058 + In_Frame_Del DEL AAGGAGAGCCAGATT AAGGAGAGCCAGATT - novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 AAGGAGAGCCAGATT AAGGAGAGCCAGATT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 6 27331044 27331058 AAGGAGAGCCAGATT - DEL PRSS16 NM_005865 human genbank 54_36p +1 reviewed in_frame_del c.1516_1530 p.ESQIK507in_frame_del 0.008:0.021:0.022:0.020:0.048:0.068:0.213:0.244:0.303:0.312:0.297:0.218:0.073:0.000:0.000 NULL HMMPfam_Peptidase_S28,superfamily_SSF53474 (deletion:cds_exon[27331005,27331073]) no_errors DGKK 139189 genome.wustl.edu 36 X 50135850 50135851 + Frame_Shift_Ins INS - - ACAG novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 X 50135850 50135851 - ACAG INS DGKK ENST00000376025 human ensembl 54_36p -1 known frame_shift_ins c.3324_3323 p.N1109fs 0.997:1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045 - no_errors TBL1XR1 79718 genome.wustl.edu 36 3 178250557 178250575 + Frame_Shift_Del DEL CTGTGTAGAGCCACTGGTG CTGTGTAGAGCCACTGGTG - novel unknown TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 CTGTGTAGAGCCACTGGTG CTGTGTAGAGCCACTGGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 44ea2f32-53d4-4310-a339-7b2de9adcc08 dfba5f76-d9ea-4e47-b9a7-76b427ad3a04 3 178250557 178250575 CTGTGTAGAGCCACTGGTG - DEL TBL1XR1 NM_024665 human genbank 54_36p -1 reviewed frame_shift_del c.624_606 p.T203fs 1.000:1.000:1.000:0.917:1.000:1.000:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:0.968:0.169:0.956:0.999:0.999 NULL HMMSmart_LisH,HMMPfam_LisH,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40,PatternScan_WD_REPEATS_1 (deletion:cds_exon[178250479,178250620]) no_errors