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 CSMD1 64478 genome.wustl.edu 36 8 2819519 2819519 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 8 2819519 2819519 G A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.8605 p.R2869C 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANO2 57101 genome.wustl.edu 36 12 5557872 5557872 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 12 5557872 5557872 G A SNP ANO2 NM_020373 human genbank 54_36p -1 validated silent c.2310 p.N770 0.995 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors TP53 7157 genome.wustl.edu 36 17 7519129 7519129 + Missense_Mutation SNP A C C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 17 7519129 7519129 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.526 p.C176G 1.000 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 XAB2 56949 genome.wustl.edu 36 19 7594131 7594131 + Missense_Mutation SNP G G C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 19 7594131 7594131 G C SNP XAB2 NM_020196 human genbank 54_36p -1 validated missense c.1164 p.F388L 1.000 superfamily_SSF48452 HMMSmart_HAT,superfamily_SSF48452 - no_errors MUC16 94025 genome.wustl.edu 36 19 8948849 8948849 + Silent SNP G G T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 19 8948849 8948849 G T SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.3966 p.T1322 0.000 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors LOC727833 727833 genome.wustl.edu 36 16 10113842 10113842 + RNA SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 16 10113842 10113842 G A SNP LOC727833 XR_015181 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MYH1 4619 genome.wustl.edu 36 17 10341915 10341915 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 17 10341915 10341915 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.4226 p.E1409G 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors TLR7 51284 genome.wustl.edu 36 X 12815288 12815288 + Silent SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c X 12815288 12815288 T C SNP TLR7 NM_016562 human genbank 54_36p +1 reviewed silent c.1740 p.F580 1.000 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors FREM1 158326 genome.wustl.edu 36 9 14760702 14760702 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 9 14760702 14760702 G A SNP FREM1 NM_144966 human genbank 54_36p -1 validated missense c.4960 p.R1654C 0.744 NULL superfamily_Cadherin-like,PatternScan_SPASE_I_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C - no_errors LOC100131966 0 genome.wustl.edu 36 18 18066317 18066317 + Missense_Mutation SNP C A A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 18 18066317 18066317 C A SNP LOC100131966 XM_001714344 human genbank 54_36p +1 model missense c.463 p.P155T 0.000 NULL NULL - no_errors NHLRC1 378884 genome.wustl.edu 36 6 18229851 18229851 + Silent SNP G G T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 18229851 18229851 G T SNP NHLRC1 NM_198586 human genbank 54_36p -1 provisional silent c.966 p.A322 0.859 superfamily_SSF101898 superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF101898,HMMPfam_NHL - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18650479 18650479 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 13 18650479 18650479 G A SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed silent c.282 p.T94 0.988 superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors MEIS3P2 0 genome.wustl.edu 36 17 20434000 20434000 + Missense_Mutation SNP T T A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 17 20434000 20434000 T A SNP MEIS3P2 ENST00000340731 human ensembl 54_36p +1 known missense c.803 p.L268H 1.000 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox PatternScan_HOMEOBOX_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors IFNA21 3452 genome.wustl.edu 36 9 21156467 21156467 + Missense_Mutation SNP G G C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 9 21156467 21156467 G C SNP IFNA21 NM_002175 human genbank 54_36p -1 validated missense c.145 p.P49A 0.002 HMMPfam_Interferon,superfamily_4_helix_cytokine HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D - no_errors DNAH11 8701 genome.wustl.edu 36 7 21750688 21750688 + Missense_Mutation SNP A A G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 21750688 21750688 A G SNP DNAH11 NM_003777 human genbank 54_36p +1 reviewed missense c.8284 p.R2762G 0.996 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SNORD116-3 0 genome.wustl.edu 36 15 22853173 22853173 + RNA SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 15 22853173 22853173 G A SNP SNORD116-3 NR_003318 human genbank 54_36p +1 provisional rna NULL NULL 0.840 - - - no_errors PPARGC1A 10891 genome.wustl.edu 36 4 23425127 23425127 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 4 23425127 23425127 G A SNP PPARGC1A NM_013261 human genbank 54_36p -1 reviewed silent c.1077 p.S359 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors CDH9 1007 genome.wustl.edu 36 5 26917329 26917329 + Silent SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 26917329 26917329 C T SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed silent c.2043 p.E681 1.000 HMMPfam_Cadherin_C superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors ADAMTS5 11096 genome.wustl.edu 36 21 27227226 27227226 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 21 27227226 27227226 G A SNP ADAMTS5 NM_007038 human genbank 54_36p -1 reviewed silent c.1698 p.S566 1.000 superfamily_TSP-1 type 1 repeat "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors OR11A1 26531 genome.wustl.edu 36 6 29502476 29502476 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 29502476 29502476 T C SNP OR11A1 NM_013937 human genbank 54_36p -1 provisional missense c.922 p.I308V 0.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NEUROD6 63974 genome.wustl.edu 36 7 31345101 31345101 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 31345101 31345101 C T SNP NEUROD6 NM_022728 human genbank 54_36p -1 provisional missense c.307 p.E103K 0.995 superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353 superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353 - no_errors PDE1C 5137 genome.wustl.edu 36 7 31885225 31885225 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 31885225 31885225 G A SNP PDE1C NM_005020 human genbank 54_36p -1 provisional missense c.334 p.R112W 0.806 HMMPfam_PDEase_I_N HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors COL16A1 1307 genome.wustl.edu 36 1 31922183 31922183 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 1 31922183 31922183 G A SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed silent c.2292 p.P764 0.608 NULL HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen - no_errors LOC647157 647157 genome.wustl.edu 36 16 32349593 32349593 + RNA SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 16 32349593 32349593 C T SNP LOC647157 XR_017478 human genbank 54_36p +1 model rna NULL NULL 0.936 - - - pseudogene HIPK3 10114 genome.wustl.edu 36 11 33265588 33265588 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 33265588 33265588 T C SNP HIPK3 NM_005734 human genbank 54_36p +1 validated missense c.1052 p.V351A 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ANKRD18B 441459 genome.wustl.edu 36 9 33519063 33519063 + Missense_Mutation SNP T T G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 9 33519063 33519063 T G SNP ANKRD18B ENST00000290943 human ensembl 54_36p +1 known missense c.387 p.I129M 0.029 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors CSNK1E 1454 genome.wustl.edu 36 22 37026859 37026859 + Silent SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 22 37026859 37026859 C A SNP CSNK1E NM_001894 human genbank 54_36p -1 reviewed silent c.381 p.R127 0.996 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PTPRT 11122 genome.wustl.edu 36 20 40414257 40414257 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 20 40414257 40414257 T C SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.1643 p.E548G 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors KBTBD5 131377 genome.wustl.edu 36 3 42704689 42704689 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 42704689 42704689 C T SNP KBTBD5 NM_152393 human genbank 54_36p +1 validated missense c.1204 p.R402C 0.995 superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors DLK2 65989 genome.wustl.edu 36 6 43526486 43526486 + Missense_Mutation SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 43526486 43526486 C A SNP DLK2 NM_023932 human genbank 54_36p -1 validated missense c.921 p.L307F 0.944 NULL PatternScan_ZF_RING_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors LOC653436 653436 genome.wustl.edu 36 9 44037364 44037364 + RNA SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 9 44037364 44037364 C A SNP LOC653436 XR_042306 human genbank 54_36p -1 model rna NULL NULL 0.526 - - - pseudogene LOC653436 653436 genome.wustl.edu 36 9 44058381 44058381 + RNA SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 9 44058381 44058381 G A SNP LOC653436 XR_042306 human genbank 54_36p -1 model rna NULL NULL 0.017 - - - pseudogene ALOX5 240 genome.wustl.edu 36 10 45227652 45227652 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 45227652 45227652 G A SNP ALOX5 NM_000698 human genbank 54_36p +1 reviewed missense c.439 p.E147K 1.000 superfamily_Lipoxygenase,HMMPfam_Lipoxygenase superfamily_Lipase_LipOase,HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2 - no_errors XCR1 2829 genome.wustl.edu 36 3 46038347 46038347 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 46038347 46038347 C T SNP XCR1 NM_001024644 human genbank 54_36p -1 reviewed missense c.97 p.A33T 0.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LRRC2 79442 genome.wustl.edu 36 3 46546468 46546468 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 46546468 46546468 C T SNP LRRC2 NM_024512 human genbank 54_36p -1 validated missense c.704 p.R235Q 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1 - no_errors FAM21B 55747 genome.wustl.edu 36 10 47431513 47431513 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 47431513 47431513 G A SNP FAM21B NM_018232 human genbank 54_36p +1 validated silent c.984 p.T328 0.607 NULL NULL - no_errors CCDC51 79714 genome.wustl.edu 36 3 48451265 48451265 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 48451265 48451265 T C SNP CCDC51 NM_024661 human genbank 54_36p -1 validated missense c.278 p.N93S 0.891 NULL NULL - no_errors OR4C12 283093 genome.wustl.edu 36 11 49960412 49960412 + Missense_Mutation SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 49960412 49960412 C A SNP OR4C12 NM_001005270 human genbank 54_36p -1 provisional missense c.202 p.D68Y 0.998 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CCNB3 85417 genome.wustl.edu 36 X 50069856 50069856 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c X 50069856 50069856 G A SNP CCNB3 NM_033031 human genbank 54_36p +1 reviewed silent c.1947 p.L649 0.000 NULL superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385,HMMPfam_Cyclin_C - no_errors LOC729023 729023 genome.wustl.edu 36 10 52113373 52113373 + RNA SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 52113373 52113373 C T SNP LOC729023 XR_038278 human genbank 54_36p +1 model rna NULL NULL 0.002 - - - pseudogene DST 667 genome.wustl.edu 36 6 56612750 56612750 + Missense_Mutation SNP T T A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 56612750 56612750 T A SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.1922 p.H641L 1.000 HMMSmart_SM00150,superfamily_Spectrin repeat superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors RPS9 6203 genome.wustl.edu 36 19 59403115 59403115 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 19 59403115 59403115 G A SNP RPS9 NM_001013 human genbank 54_36p +1 reviewed missense c.445 p.V149I 1.000 superfamily_Alpha-L RNA-binding motif,HMMPfam_S4,HMMSmart_SM00363 HMMPfam_Ribosomal_S4,superfamily_Alpha-L RNA-binding motif,PatternScan_RIBOSOMAL_S4,HMMPfam_S4,HMMSmart_SM00363 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63514424 63514424 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 14 63514424 63514424 G A SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.1342 p.E448K 0.993 superfamily_Spectrin superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors RGS7BP 401190 genome.wustl.edu 36 5 63838327 63838327 + Silent SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 63838327 63838327 C T SNP RGS7BP NM_001029875 human genbank 54_36p +1 provisional silent c.120 p.S40 1.000 NULL NULL - no_errors HEPH 9843 genome.wustl.edu 36 X 65328755 65328755 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c X 65328755 65328755 G A SNP HEPH NM_014799 human genbank 54_36p +1 reviewed silent c.321 p.L107 0.000 superfamily_Cupredoxin superfamily_Cupredoxin,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2 - no_errors TSGA10IP 254187 genome.wustl.edu 36 11 65471294 65471294 + Missense_Mutation SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 65471294 65471294 T C SNP TSGA10IP NM_152762 human genbank 54_36p +1 validated missense c.422 p.F141S 0.000 NULL NULL - pseudogene CYP7B1 9420 genome.wustl.edu 36 8 65699612 65699612 + Missense_Mutation SNP G G T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 8 65699612 65699612 G T SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.161 p.P54H 1.000 superfamily_Cytochrome P450 superfamily_Cytochrome P450,HMMPfam_p450 - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68051528 68051528 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 68051528 68051528 G A SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated silent c.1302 p.S434 0.999 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors MYO6 4646 genome.wustl.edu 36 6 76656618 76656618 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 76656618 76656618 G A SNP MYO6 NM_004999 human genbank 54_36p +1 reviewed missense c.2783 p.R928H 0.414 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors AZI1 22994 genome.wustl.edu 36 17 76795255 76795255 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 17 76795255 76795255 G A SNP AZI1 NM_014984 human genbank 54_36p -1 validated silent c.399 p.P133 0.711 NULL NULL - no_errors ANKRD34B 340120 genome.wustl.edu 36 5 79890862 79890862 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 79890862 79890862 C T SNP ANKRD34B NM_001004441 human genbank 54_36p -1 provisional missense c.733 p.A245T 0.737 NULL HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank - no_errors REXO1L7P 441363 genome.wustl.edu 36 8 86909738 86909738 + RNA SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 8 86909738 86909738 G A SNP REXO1L7P XR_041982 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - pseudogene PTPN21 11099 genome.wustl.edu 36 14 88009880 88009880 + Missense_Mutation SNP A A G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 14 88009880 88009880 A G SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed missense c.2531 p.V844A 0.594 NULL HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors SLCO3A1 28232 genome.wustl.edu 36 15 90448658 90448658 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 15 90448658 90448658 G A SNP SLCO3A1 NM_013272 human genbank 54_36p +1 validated missense c.891 p.M297I 0.997 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors ZCWPW1 55063 genome.wustl.edu 36 7 99851863 99851863 + Splice_Site SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 99851863 99851863 C T SNP ZCWPW1 NM_017984 human genbank 54_36p -1 validated splice_site c.631+1 e5+1 0.865 - - - no_errors TMEM119 338773 genome.wustl.edu 36 12 107510160 107510160 + Silent SNP C T T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 12 107510160 107510160 C T SNP TMEM119 NM_181724 human genbank 54_36p -1 validated silent c.129 p.E43 0.995 NULL NULL - no_errors SLC5A7 60482 genome.wustl.edu 36 2 107993138 107993138 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 2 107993138 107993138 G A SNP SLC5A7 NM_021815 human genbank 54_36p +1 provisional missense c.1132 p.V378I 0.918 HMMPfam_SSF PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF - no_errors ZC3H12C 85463 genome.wustl.edu 36 11 109535335 109535335 + Missense_Mutation SNP A A G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 109535335 109535335 A G SNP ZC3H12C NM_033390 human genbank 54_36p +1 validated missense c.1058 p.N353S 1.000 NULL NULL - no_errors CHIA 27159 genome.wustl.edu 36 1 111663354 111663354 + Silent SNP C C G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 1 111663354 111663354 C G SNP CHIA NM_201653 human genbank 54_36p +1 validated silent c.1005 p.G335 0.994 HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18,superfamily_Chitinase insertion domain,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMPfam_CBM_14 - no_errors SIDT2 51092 genome.wustl.edu 36 11 116567867 116567867 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 116567867 116567867 C T SNP SIDT2 NM_001040455 human genbank 54_36p +1 validated missense c.1799 p.P600L 0.992 NULL NULL - no_errors POU2F3 25833 genome.wustl.edu 36 11 119675563 119675563 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 119675563 119675563 G A SNP POU2F3 NM_014352 human genbank 54_36p +1 validated silent c.279 p.P93 0.698 NULL HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors HAO2 51179 genome.wustl.edu 36 1 119737936 119737936 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 1 119737936 119737936 C T SNP HAO2 NM_001005783 human genbank 54_36p +1 reviewed missense c.1006 p.R336W 0.999 superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh superfamily_FMN-linked oxidoreductases,HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1 - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121438932 121438932 + Missense_Mutation SNP G G T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 121438932 121438932 G T SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed missense c.2596 p.D866Y 0.999 NULL superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors THOC2 57187 genome.wustl.edu 36 X 122694542 122694542 + Silent SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c X 122694542 122694542 C T SNP THOC2 NM_001081550 human genbank 54_36p -1 validated silent c.12 p.A4 0.860 NULL NULL - no_errors DTX3L 151636 genome.wustl.edu 36 3 123771283 123771283 + Silent SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 123771283 123771283 C T SNP DTX3L NM_138287 human genbank 54_36p +1 validated silent c.1657 p.L553 0.000 superfamily_SSF57850 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors TACC2 10579 genome.wustl.edu 36 10 123833822 123833822 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 123833822 123833822 G A SNP TACC2 NM_206862 human genbank 54_36p +1 reviewed missense c.1817 p.R606H 0.000 NULL HMMPfam_TACC - no_errors PSTK 118672 genome.wustl.edu 36 10 124730031 124730031 + Silent SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 10 124730031 124730031 C A SNP PSTK NM_153336 human genbank 54_36p +1 validated silent c.46 p.R16 0.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_KTI12 - no_errors PCDHB12 56124 genome.wustl.edu 36 5 140569528 140569528 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 140569528 140569528 C T SNP PCDHB12 NM_018932 human genbank 54_36p +1 reviewed missense c.865 p.R289C 0.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHGB2 56103 genome.wustl.edu 36 5 140720966 140720966 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 140720966 140720966 G A SNP PCDHGB2 NM_018923 human genbank 54_36p +1 reviewed silent c.1080 p.S360 0.000 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LRP1B 53353 genome.wustl.edu 36 2 140916663 140916663 + Splice_Site SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 2 140916663 140916663 C T SNP LRP1B NM_018557 human genbank 54_36p -1 validated splice_site c.10295-1 e66-1 1.000 - - - no_errors MAGEA11 4110 genome.wustl.edu 36 X 148576986 148576986 + Missense_Mutation SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c X 148576986 148576986 C A SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.273 p.W91C 0.008 NULL HMMPfam_MAGE - no_errors NMUR2 56923 genome.wustl.edu 36 5 151764500 151764500 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 151764500 151764500 G A SNP NMUR2 NM_020167 human genbank 54_36p -1 reviewed missense c.368 p.T123M 0.998 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 DPP6 1804 genome.wustl.edu 36 7 154192172 154192172 + Silent SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 7 154192172 154192172 C T SNP DPP6 ENST00000252510 human ensembl 54_36p +1 known silent c.996 p.T332 0.667 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 - no_errors NES 10763 genome.wustl.edu 36 1 154908308 154908308 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 1 154908308 154908308 G A SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.2296 p.R766W 0.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors RBM16 22828 genome.wustl.edu 36 6 155187124 155187124 + Missense_Mutation SNP C C G novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 155187124 155187124 C G SNP RBM16 NM_014892 human genbank 54_36p +1 validated missense c.1991 p.P664R 0.967 NULL superfamily_ENTH_VHS,HMMSmart_RPR,HMMPfam_DUF618,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors SCN3A 6328 genome.wustl.edu 36 2 165719391 165719391 + Silent SNP T T A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 2 165719391 165719391 T A SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed silent c.1197 p.T399 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors TTLL2 83887 genome.wustl.edu 36 6 167673649 167673649 + Missense_Mutation SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 6 167673649 167673649 G A SNP TTLL2 NM_031949 human genbank 54_36p +1 validated missense c.271 p.V91I 0.002 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors ADAMTS2 9509 genome.wustl.edu 36 5 178511760 178511760 + Missense_Mutation SNP C C A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 5 178511760 178511760 C A SNP ADAMTS2 NM_014244 human genbank 54_36p -1 reviewed missense c.1618 p.A540S 0.998 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors MUC20 200958 genome.wustl.edu 36 3 196938707 196938707 + Missense_Mutation SNP C C T novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 3 196938707 196938707 C T SNP MUC20 NM_152673 human genbank 54_36p +1 reviewed missense c.1049 p.A350V 0.001 NULL NULL - no_errors TRAK2 66008 genome.wustl.edu 36 2 201971188 201971188 + Silent SNP T T C novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 2 201971188 201971188 T C SNP TRAK2 NM_015049 human genbank 54_36p -1 validated silent c.615 p.Q205 0.987 HMMPfam_HAP1_N HMMPfam_HAP1_N - no_errors OR2L5 0 genome.wustl.edu 36 1 246252205 246252205 + Silent SNP G G A novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 1 246252205 246252205 G A SNP OR2L5 ENST00000355281 human ensembl 54_36p +1 known silent c.333 p.A111 0.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FAT3 120114 genome.wustl.edu 36 11 92174253 92174255 + In_Frame_Del DEL ACA ACA - novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 ACA ACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 92174253 92174255 ACA - DEL FAT3 NM_001008781 human genbank 54_36p +1 validated in_frame_del c.8426_8428 p.N2810in_frame_del 1.000:1.000:1.000 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 (deletion:cds_exon[92170650,92174723]) no_errors CCDC67 159989 genome.wustl.edu 36 11 92767347 92767347 + Frame_Shift_Del DEL C C - novel unknown TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8edb3a01-22e3-4671-8685-75f08d7af0d5 1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c 11 92767347 92767347 C - DEL CCDC67 NM_181645 human genbank 54_36p +1 validated frame_shift_del c.1116 p.L373fs 0.999 NULL NULL (deletion:cds_exon[92767273,92767470]) no_errors