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 13559 13559 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 MT 13559 13559 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.1222 p.A408T NULL NULL HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors DEFB129 140881 genome.wustl.edu 36 20 158326 158326 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 158326 158326 G T SNP DEFB129 NM_080831 human genbank 54_36p +1 validated missense c.466 p.A156S 0.000 NULL NULL - no_errors C20orf194 25943 genome.wustl.edu 36 20 3246935 3246935 + Splice_Site SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 3246935 3246935 C A SNP C20orf194 NM_001009984 human genbank 54_36p -1 validated splice_site c.1468+1 e17+1 0.998 - - - no_errors RASSF2 9770 genome.wustl.edu 36 20 4716359 4716359 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 4716359 4716359 G A SNP RASSF2 NM_014737 human genbank 54_36p -1 reviewed nonsense c.733 p.R245* 1.000 HMMSmart_RA,HMMPfam_RA HMMSmart_RA,HMMPfam_RA - no_errors SAFB2 9667 genome.wustl.edu 36 19 5562182 5562182 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 5562182 5562182 G C SNP SAFB2 NM_014649 human genbank 54_36p -1 validated missense c.1094 p.P365R 1.000 NULL superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors OR52N1 79473 genome.wustl.edu 36 11 5766602 5766602 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 5766602 5766602 G A SNP OR52N1 NM_001001913 human genbank 54_36p -1 provisional silent c.21 p.T7 0.000 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CAPS 828 genome.wustl.edu 36 19 5865436 5865436 + Missense_Mutation SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 5865436 5865436 A G SNP CAPS NM_004058 human genbank 54_36p +1 validated missense c.19 p.T7A 0.362 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors VWF 7450 genome.wustl.edu 36 12 5965036 5965036 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 5965036 5965036 G A SNP VWF NM_000552 human genbank 54_36p -1 reviewed silent c.6855 p.S2285 0.652 HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_VWC,PatternScan_VWFC_1,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors CRLS1 54675 genome.wustl.edu 36 20 5965787 5965787 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 5965787 5965787 C T SNP CRLS1 NM_019095 human genbank 54_36p +1 validated nonsense c.889 p.Q297* 1.000 NULL PatternScan_CDP_ALCOHOL_P_TRANSF,HMMPfam_CDP-OH_P_transf - no_errors POLR2A 5430 genome.wustl.edu 36 17 7356920 7356920 + Silent SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 7356920 7356920 C G SNP POLR2A NM_000937 human genbank 54_36p +1 provisional silent c.4710 p.G1570 1.000 NULL superfamily_SSF64484,HMMPfam_RNA_pol_Rpb1_1,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5,HMMPfam_RNA_pol_Rpb1_6,HMMPfam_RNA_pol_Rpb1_7,HMMPfam_RNA_pol_Rpb1_R,PatternScan_RNA_POL_II_REPEAT - no_errors UTS2 10911 genome.wustl.edu 36 1 7833486 7833486 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 7833486 7833486 C G SNP UTS2 NM_021995 human genbank 54_36p -1 reviewed missense c.232 p.E78Q 0.001 NULL HMMPfam_Urotensin_II,PatternScan_UROTENSIN_II - no_errors ACOX3 8310 genome.wustl.edu 36 4 8458585 8458585 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 8458585 8458585 T A SNP ACOX3 NM_003501 human genbank 54_36p -1 validated missense c.773 p.N258I 1.000 superfamily_Acyl-CoA dehydrogenase NM domain-like superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,HMMPfam_ACOX - no_errors COL5A3 50509 genome.wustl.edu 36 19 9960829 9960829 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 9960829 9960829 G T SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.2116 p.P706T 0.087 NULL HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors uc010dwx.1 0 genome.wustl.edu 36 19 10024254 10024254 + Silent SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 10024254 10024254 A G SNP uc010dwx.1 ENST00000333905 human ensembl 54_36p +1 known silent c.468 p.V156 0.299 NULL HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp - no_errors TYK2 7297 genome.wustl.edu 36 19 10325312 10325312 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 10325312 10325312 C T SNP TYK2 NM_003331 human genbank 54_36p -1 reviewed silent c.2919 p.S973 0.878 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors MYH1 4619 genome.wustl.edu 36 17 10356722 10356722 + Splice_Site SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 10356722 10356722 C T SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed splice_site c.1008+1 e9+1 1.000 - - - no_errors CTR9 9646 genome.wustl.edu 36 11 10752177 10752177 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 10752177 10752177 G T SNP CTR9 NM_014633 human genbank 54_36p +1 provisional missense c.2770 p.D924Y 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR - no_errors GNAL 2774 genome.wustl.edu 36 18 11743861 11743861 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 11743861 11743861 G T SNP GNAL NM_182978 human genbank 54_36p +1 validated missense c.541 p.V181F 1.000 HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert - no_errors PRDM2 7799 genome.wustl.edu 36 1 13979649 13979649 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 13979649 13979649 T A SNP PRDM2 NM_012231 human genbank 54_36p +1 reviewed missense c.2772 p.D924E 0.015 NULL superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors BFAR 51283 genome.wustl.edu 36 16 14645797 14645797 + Silent SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 14645797 14645797 A G SNP BFAR NM_016561 human genbank 54_36p +1 provisional silent c.93 p.E31 0.994 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors ENSG00000176923 0 genome.wustl.edu 36 19 14899059 14899059 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 14899059 14899059 A C SNP ENSG00000176923 ENST00000321415 human ensembl 54_36p +1 known missense c.37 p.I13L 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MRGPRX2 117194 genome.wustl.edu 36 11 19034300 19034300 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 19034300 19034300 A C SNP MRGPRX2 NM_054030 human genbank 54_36p -1 provisional missense c.226 p.F76V 0.988 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4K2 390431 genome.wustl.edu 36 14 19414346 19414346 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 19414346 19414346 T C SNP OR4K2 NM_001005501 human genbank 54_36p +1 provisional missense c.80 p.F27S 0.060 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 LOC642131 0 genome.wustl.edu 36 15 19974311 19974311 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 19974311 19974311 C T SNP LOC642131 XM_001716834 human genbank 54_36p -1 model silent c.345 p.A115 0.541 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_errors MATN3 4148 genome.wustl.edu 36 2 20069531 20069531 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 20069531 20069531 A C SNP MATN3 NM_002381 human genbank 54_36p -1 reviewed missense c.245 p.L82W 0.994 superfamily_vWA-like,HMMSmart_SM00327 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil - no_errors PUM2 23369 genome.wustl.edu 36 2 20354013 20354013 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 20354013 20354013 C G SNP PUM2 NM_015317 human genbank 54_36p -1 provisional missense c.1172 p.G391A 1.000 NULL superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025 - no_errors APOB 338 genome.wustl.edu 36 2 21086591 21086591 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 21086591 21086591 G A SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.6654 p.I2218 0.294 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors ZP2 7783 genome.wustl.edu 36 16 21120977 21120977 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 21120977 21120977 C A SNP ZP2 NM_003460 human genbank 54_36p -1 reviewed missense c.1236 p.Q412H 0.001 HMMPfam_Zona_pellucida,HMMSmart_SM00241 HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors uc001wct.2 0 genome.wustl.edu 36 14 21541489 21541489 + Silent SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 21541489 21541489 C A SNP uc001wct.2 ENST00000390446 human ensembl 54_36p +1 known silent c.72 p.T24 1.000 HMMPfam_V-set,superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726 - no_stop_codon CD93 22918 genome.wustl.edu 36 20 23013155 23013155 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 23013155 23013155 G T SNP CD93 NM_012072 human genbank 54_36p -1 reviewed missense c.1675 p.Q559K 0.000 NULL PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C,HMMSmart_EGF,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors GPNMB 10457 genome.wustl.edu 36 7 23276219 23276219 + Silent SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 23276219 23276219 A G SNP GPNMB NM_001005340 human genbank 54_36p +1 reviewed silent c.1365 p.R455 0.963 NULL superfamily_PKD domain,HMMSmart_SM00089,HMMPfam_PKD - no_errors PRDM9 56979 genome.wustl.edu 36 5 23557015 23557015 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 23557015 23557015 A T SNP PRDM9 NM_020227 human genbank 54_36p +1 provisional missense c.478 p.T160S 0.000 NULL superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_KRAB,HMMPfam_SSXRD,superfamily_SSF82199,HMMSmart_SET,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors ADAM28 10863 genome.wustl.edu 36 8 24264762 24264762 + Silent SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 24264762 24264762 C A SNP ADAM28 NM_014265 human genbank 54_36p +1 reviewed silent c.2172 p.P724 0.349 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,PatternScan_EGF_2" - no_errors CCDC149 91050 genome.wustl.edu 36 4 24448885 24448885 + Silent SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 24448885 24448885 A C SNP CCDC149 NM_173463 human genbank 54_36p -1 validated silent c.315 p.A105 0.141 HMMPfam_DUF2353 HMMPfam_DUF2353 - no_errors NOVA1 4857 genome.wustl.edu 36 14 25987702 25987702 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 25987702 25987702 G T SNP NOVA1 NM_002515 human genbank 54_36p -1 reviewed missense c.827 p.A276D 1.000 NULL HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1 - no_errors APBB1IP 54518 genome.wustl.edu 36 10 26862429 26862429 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 10 26862429 26862429 T C SNP APBB1IP NM_019043 human genbank 54_36p +1 validated missense c.869 p.M290T 1.000 NULL HMMPfam_RA,HMMSmart_RA,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors DSC1 1823 genome.wustl.edu 36 18 26968537 26968537 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 26968537 26968537 C A SNP DSC1 NM_024421 human genbank 54_36p -1 reviewed missense c.1872 p.K624N 0.015 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 HMMPfam_Cadherin_pro,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors LOC400347 400347 genome.wustl.edu 36 15 29533604 29533604 + RNA SNP C G G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 29533604 29533604 C G SNP LOC400347 XR_016518 human genbank 54_36p -1 model rna NULL NULL 0.864 - - - pseudogene ASXL3 80816 genome.wustl.edu 36 18 29577116 29577116 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 29577116 29577116 C G SNP ASXL3 NM_030632 human genbank 54_36p +1 validated missense c.3306 p.I1102M 1.000 NULL NULL - no_errors EHD3 30845 genome.wustl.edu 36 2 31342859 31342859 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 31342859 31342859 G C SNP EHD3 NM_014600 human genbank 54_36p +1 provisional missense c.1393 p.A465P 0.999 superfamily_EF-hand,HMMSmart_SM00027 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors RYR3 6263 genome.wustl.edu 36 15 31629674 31629674 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 31629674 31629674 A T SNP RYR3 NM_001036 human genbank 54_36p +1 validated missense c.837 p.R279S 0.995 HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors ZBTB12 221527 genome.wustl.edu 36 6 31976765 31976765 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 6 31976765 31976765 G C SNP ZBTB12 NM_181842 human genbank 54_36p -1 validated missense c.297 p.D99E 0.988 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors HERC2P4 440362 genome.wustl.edu 36 16 32070781 32070781 + RNA SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 32070781 32070781 C T SNP HERC2P4 NR_002827 human genbank 54_36p -1 provisional rna NULL NULL 0.050 - - - pseudogene ANXA2P2 0 genome.wustl.edu 36 9 33614424 33614424 + RNA SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 33614424 33614424 G T SNP ANXA2P2 NR_003573 human genbank 54_36p +1 validated rna NULL NULL 0.998 - - - pseudogene DSN1 79980 genome.wustl.edu 36 20 34824299 34824299 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 20 34824299 34824299 T A SNP DSN1 NM_024918 human genbank 54_36p -1 reviewed missense c.569 p.K190I 1.000 HMMPfam_Mis12_component HMMPfam_Mis12_component - no_errors LBA1 9881 genome.wustl.edu 36 3 36849176 36849176 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 36849176 36849176 C G SNP LBA1 NM_014831 human genbank 54_36p -1 validated missense c.5120 p.R1707P 0.016 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TTC6 115669 genome.wustl.edu 36 14 37381243 37381243 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 37381243 37381243 T C SNP TTC6 ENST00000382320 human ensembl 54_36p +1 known missense c.1850 p.I617T 0.000 NULL superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1 - no_errors CCR10 2826 genome.wustl.edu 36 17 38086141 38086141 + Silent SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 38086141 38086141 A G SNP CCR10 NM_016602 human genbank 54_36p -1 validated silent c.45 p.S15 0.004 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TEF 7008 genome.wustl.edu 36 22 40121794 40121794 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 22 40121794 40121794 G C SNP TEF NM_003216 human genbank 54_36p +1 reviewed missense c.796 p.A266P 0.991 HMMSmart_SM00338,HMMPfam_bZIP_2 HMMSmart_SM00338,HMMPfam_bZIP_2 - no_errors PDZRN4 29951 genome.wustl.edu 36 12 40252991 40252991 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 40252991 40252991 G C SNP PDZRN4 NM_013377 human genbank 54_36p +1 validated missense c.1369 p.D457H 0.008 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors XRCC6 2547 genome.wustl.edu 36 22 40372977 40372977 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 22 40372977 40372977 C T SNP XRCC6 NM_001469 human genbank 54_36p +1 reviewed missense c.905 p.T302I 0.979 superfamily_SPOC-like,HMMPfam_Ku superfamily_SSF53300,HMMPfam_Ku_N,superfamily_SPOC-like,HMMPfam_Ku,HMMSmart_Ku78,HMMPfam_Ku_C,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP - no_errors SLC14A2 8170 genome.wustl.edu 36 18 41503420 41503420 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 41503420 41503420 G A SNP SLC14A2 NM_007163 human genbank 54_36p +1 validated missense c.2188 p.A730T 0.002 HMMPfam_UT HMMPfam_UT,PatternScan_MULTICOPPER_OXIDASE1 - no_errors KIAA1267 284058 genome.wustl.edu 36 17 41527855 41527855 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 41527855 41527855 G C SNP KIAA1267 NM_015443 human genbank 54_36p -1 validated missense c.1319 p.A440G 1.000 NULL NULL - no_errors ANK1 286 genome.wustl.edu 36 8 41734793 41734793 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 41734793 41734793 A T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.47 p.F16Y 1.000 superfamily_Ankyrin repeat,HMMSmart_SM00248 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors CDC20 991 genome.wustl.edu 36 1 43598078 43598078 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 43598078 43598078 G C SNP CDC20 NM_001255 human genbank 54_36p +1 reviewed missense c.426 p.E142D 1.000 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors MAP4K1 11184 genome.wustl.edu 36 19 43778138 43778138 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 43778138 43778138 C T SNP MAP4K1 NM_007181 human genbank 54_36p -1 validated missense c.2251 p.E751K 0.060 HMMSmart_CNH,HMMPfam_CNH PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_CNH,HMMPfam_CNH - no_errors AEBP1 165 genome.wustl.edu 36 7 44119828 44119828 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 44119828 44119828 G A SNP AEBP1 NM_001129 human genbank 54_36p +1 reviewed missense c.2920 p.G974R 0.960 HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Carboxypeptidase regulatory domain - no_errors PRDM11 56981 genome.wustl.edu 36 11 45202719 45202719 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 45202719 45202719 A T SNP PRDM11 NM_020229 human genbank 54_36p +1 validated missense c.1220 p.K407M 0.997 NULL NULL - no_errors XYLT2 64132 genome.wustl.edu 36 17 45789130 45789130 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 45789130 45789130 G C SNP XYLT2 NM_022167 human genbank 54_36p +1 reviewed missense c.1742 p.C581S 1.000 NULL HMMPfam_Branch - no_errors RAB4B 53916 genome.wustl.edu 36 19 45981798 45981798 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 45981798 45981798 C T SNP RAB4B NM_016154 human genbank 54_36p +1 validated silent c.408 p.A136 0.989 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors CACNA1G 8913 genome.wustl.edu 36 17 46058920 46058920 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 46058920 46058920 C G SNP CACNA1G NM_018896 human genbank 54_36p +1 validated missense c.6943 p.P2315A 1.000 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors ZNF574 64763 genome.wustl.edu 36 19 47276075 47276075 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 47276075 47276075 C G SNP ZNF574 NM_022752 human genbank 54_36p +1 validated missense c.1477 p.R493G 1.000 superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C12orf41 54934 genome.wustl.edu 36 12 47359141 47359141 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 47359141 47359141 C G SNP C12orf41 NM_017822 human genbank 54_36p -1 validated missense c.490 p.G164R 1.000 NULL NULL - no_errors ABCA13 154664 genome.wustl.edu 36 7 48283939 48283939 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 48283939 48283939 C T SNP ABCA13 NM_152701 human genbank 54_36p +1 reviewed missense c.3967 p.R1323C 0.009 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RARG 5916 genome.wustl.edu 36 12 51893628 51893628 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 51893628 51893628 C G SNP RARG NM_000966 human genbank 54_36p -1 validated missense c.937 p.A313P 1.000 superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors ORC1L 4998 genome.wustl.edu 36 1 52611496 52611496 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 52611496 52611496 C T SNP ORC1L NM_004153 human genbank 54_36p -1 reviewed missense c.2531 p.R844Q 0.989 superfamily_SSF46785,HMMPfam_Cdc6_C HMMPfam_BAH,HMMSmart_BAH,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF46785,HMMPfam_Cdc6_C - no_errors SMC1A 8243 genome.wustl.edu 36 X 53448759 53448759 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 X 53448759 53448759 C G SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.2106 p.Q702H 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge - no_errors MKS1 54903 genome.wustl.edu 36 17 53645437 53645437 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 53645437 53645437 C T SNP MKS1 NM_017777 human genbank 54_36p -1 validated missense c.763 p.G255R 1.000 NULL HMMPfam_B9 - no_errors ALPK2 115701 genome.wustl.edu 36 18 54397739 54397739 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 54397739 54397739 C A SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.1249 p.V417F 0.257 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase - no_errors SPTBN1 6711 genome.wustl.edu 36 2 54639478 54639478 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 54639478 54639478 A C SNP SPTBN1 NM_178313 human genbank 54_36p +1 reviewed missense c.59 p.Q20P 0.997 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 - no_errors ZNF473 25888 genome.wustl.edu 36 19 55240008 55240008 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 55240008 55240008 G A SNP ZNF473 NM_001006656 human genbank 54_36p +1 validated missense c.496 p.E166K 0.131 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors OR5D16 390144 genome.wustl.edu 36 11 55362950 55362950 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 55362950 55362950 G A SNP OR5D16 NM_001005496 human genbank 54_36p +1 provisional silent c.147 p.V49 0.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors SPRYD5 84767 genome.wustl.edu 36 11 55412165 55412165 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 55412165 55412165 C T SNP SPRYD5 NM_032681 human genbank 54_36p +1 validated missense c.112 p.H38Y 0.000 NULL HMMPfam_SPRY - no_errors OR7E5P 0 genome.wustl.edu 36 11 55503897 55503897 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 55503897 55503897 G T SNP OR7E5P ENST00000399170 human ensembl 54_36p -1 known missense c.136 p.P46T 0.782 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors GPR32 2854 genome.wustl.edu 36 19 55966194 55966194 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 55966194 55966194 G A SNP GPR32 NM_001506 human genbank 54_36p +1 provisional silent c.525 p.A175 0.012 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC642975 642975 genome.wustl.edu 36 11 56214765 56214765 + RNA SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 56214765 56214765 T A SNP LOC642975 XR_016156 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene OR5AK3P 0 genome.wustl.edu 36 11 56495488 56495488 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 56495488 56495488 C A SNP OR5AK3P ENST00000326876 human ensembl 54_36p +1 known missense c.388 p.L130I 0.941 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors ZNF610 162963 genome.wustl.edu 36 19 57561780 57561780 + Missense_Mutation SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 19 57561780 57561780 A G SNP ZNF610 NM_173530 human genbank 54_36p +1 provisional missense c.1337 p.H446R 0.810 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PSMA3 5684 genome.wustl.edu 36 14 57781406 57781406 + Silent SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 57781406 57781406 C G SNP PSMA3 NM_002788 human genbank 54_36p +1 reviewed silent c.15 p.G5 0.994 superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome_A_N,PatternScan_PROTEASOME_A,HMMPfam_Proteasome - no_errors PLK2 10769 genome.wustl.edu 36 5 57790335 57790335 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 57790335 57790335 T C SNP PLK2 NM_006622 human genbank 54_36p -1 validated missense c.469 p.I157V 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,superfamily_SSF82615,HMMPfam_POLO_box - no_errors OR5B2 390190 genome.wustl.edu 36 11 57946805 57946805 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 57946805 57946805 G A SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional missense c.506 p.S169F 0.789 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 OR4D9 390199 genome.wustl.edu 36 11 59039072 59039072 + Silent SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 59039072 59039072 A T SNP OR4D9 NM_001004711 human genbank 54_36p +1 provisional silent c.111 p.T37 0.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC643680 643680 genome.wustl.edu 36 11 59749038 59749038 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 59749038 59749038 C T SNP LOC643680 XM_931901 human genbank 54_36p -1 model silent c.210 p.A70 0.001 HMMPfam_CD20 HMMPfam_CD20 - no_errors TLN2 83660 genome.wustl.edu 36 15 60816457 60816457 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 60816457 60816457 C T SNP TLN2 NM_015059 human genbank 54_36p +1 reviewed silent c.3447 p.A1149 0.302 NULL PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ - no_errors FAM161A 84140 genome.wustl.edu 36 2 61920929 61920929 + Silent SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 61920929 61920929 T A SNP FAM161A NM_032180 human genbank 54_36p -1 validated silent c.387 p.V129 0.990 HMMPfam_UPF0564 HMMPfam_UPF0564 - no_errors STIP1 10963 genome.wustl.edu 36 11 63726934 63726934 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 63726934 63726934 A T SNP STIP1 NM_006819 human genbank 54_36p +1 validated missense c.1256 p.E419V 1.000 superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMSmart_STI1 - no_errors TMCO7 79613 genome.wustl.edu 36 16 67451862 67451862 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 67451862 67451862 C T SNP TMCO7 NM_024562 human genbank 54_36p +1 validated silent c.669 p.I223 0.826 NULL superfamily_ARM repeat,HMMPfam_DUF2435,HMMPfam_HEAT,HMMPfam_DUF2411 - no_errors HYDIN 54768 genome.wustl.edu 36 16 69623136 69623136 + Silent SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 69623136 69623136 A G SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.2715 p.T905 1.000 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors UGT2B4 7363 genome.wustl.edu 36 4 70381036 70381036 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 70381036 70381036 G A SNP UGT2B4 NM_021139 human genbank 54_36p -1 validated silent c.1492 p.L498 0.881 HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors SMR3B 10879 genome.wustl.edu 36 4 71289977 71289977 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 71289977 71289977 G C SNP SMR3B NM_006685 human genbank 54_36p +1 validated missense c.63 p.E21D 0.227 NULL NULL - no_errors NEGR1 257194 genome.wustl.edu 36 1 71849309 71849309 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 71849309 71849309 T A SNP NEGR1 NM_173808 human genbank 54_36p -1 validated missense c.776 p.K259I 1.000 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig - no_errors GTF2IRD2P 401375 genome.wustl.edu 36 7 72323527 72323527 + RNA SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 72323527 72323527 G T SNP GTF2IRD2P NR_002164 human genbank 54_36p -1 provisional rna NULL NULL 0.246 - - - pseudogene TRPM3 80036 genome.wustl.edu 36 9 72423780 72423780 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 72423780 72423780 G A SNP TRPM3 NM_001007471 human genbank 54_36p -1 reviewed silent c.2145 p.D715 0.994 NULL HMMPfam_Ion_trans - no_errors TMEM174 134288 genome.wustl.edu 36 5 72504845 72504845 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 72504845 72504845 C T SNP TMEM174 NM_153217 human genbank 54_36p +1 validated missense c.19 p.R7C 0.405 NULL NULL - no_errors XIST 7503 genome.wustl.edu 36 X 72958565 72958565 + RNA SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 X 72958565 72958565 A T SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.000 - - - no_errors PGS1 9489 genome.wustl.edu 36 17 73931768 73931768 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 73931768 73931768 C T SNP PGS1 ENST00000335081 human ensembl 54_36p +1 known missense c.754 p.R252W 0.132 NULL NULL - no_errors GCNT4 51301 genome.wustl.edu 36 5 74360960 74360960 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 74360960 74360960 C A SNP GCNT4 NM_016591 human genbank 54_36p -1 validated missense c.659 p.W220L 1.000 HMMPfam_Branch HMMPfam_Branch - no_errors TCEB1 6921 genome.wustl.edu 36 8 75030777 75030777 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 75030777 75030777 G C SNP TCEB1 NM_005648 human genbank 54_36p -1 reviewed missense c.71 p.S24C 1.000 HMMSmart_SM00512,HMMPfam_Skp1_POZ,superfamily_POZ domain HMMSmart_SM00512,HMMPfam_Skp1_POZ,superfamily_POZ domain - no_errors ATP9B 374868 genome.wustl.edu 36 18 75164596 75164596 + Silent SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 18 75164596 75164596 C G SNP ATP9B NM_198531 human genbank 54_36p +1 validated silent c.1416 p.T472 1.000 superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2 HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors SGK269 79834 genome.wustl.edu 36 15 75260134 75260134 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 75260134 75260134 T C SNP SGK269 NM_024776 human genbank 54_36p -1 validated missense c.1190 p.K397R 0.452 NULL PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR - no_errors EDNRB 1910 genome.wustl.edu 36 13 77372769 77372769 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 13 77372769 77372769 C T SNP EDNRB NM_000115 human genbank 54_36p -1 reviewed missense c.973 p.V325I 0.991 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 USP35 57558 genome.wustl.edu 36 11 77599021 77599021 + Silent SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 77599021 77599021 G T SNP USP35 NM_020798 human genbank 54_36p +1 validated silent c.2472 p.L824 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors ZZZ3 26009 genome.wustl.edu 36 1 77871527 77871527 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 77871527 77871527 G A SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional missense c.101 p.A34V 1.000 NULL HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_ZZ,PatternScan_ZF_ZZ_1 - no_errors LOC442232 442232 genome.wustl.edu 36 6 81140716 81140716 + RNA SNP T T G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 6 81140716 81140716 T G SNP LOC442232 XR_016559 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene AGBL1 123624 genome.wustl.edu 36 15 84608743 84608743 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 84608743 84608743 G T SNP AGBL1 NM_152336 human genbank 54_36p +1 validated missense c.1199 p.S400I 0.000 NULL superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14 - no_errors ABCB4 5244 genome.wustl.edu 36 7 86919044 86919044 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 86919044 86919044 T A SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.539 p.D180V 1.000 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC729843 729843 genome.wustl.edu 36 2 87011257 87011257 + RNA SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 87011257 87011257 G T SNP LOC729843 XR_016056 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene FANCA 2175 genome.wustl.edu 36 16 88404710 88404710 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 16 88404710 88404710 T C SNP FANCA NM_000135 human genbank 54_36p -1 reviewed missense c.428 p.K143R 0.920 NULL HMMPfam_Fanconi_A - no_errors MMP16 4325 genome.wustl.edu 36 8 89197927 89197927 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 89197927 89197927 G A SNP MMP16 NM_005941 human genbank 54_36p -1 reviewed silent c.1008 p.P336 0.989 superfamily_Hemopexin-like domain "superfamily_PGBD-like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors IGKV1-5 0 genome.wustl.edu 36 2 89302376 89302376 + Missense_Mutation SNP C C T rs11546092 unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 89302376 89302376 C T SNP IGKV1-5 ENST00000390259 human ensembl 54_36p -1 known missense c.278 p.G93D 0.998 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region GPR98 84059 genome.wustl.edu 36 5 90022526 90022526 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 90022526 90022526 T C SNP GPR98 NM_032119 human genbank 54_36p +1 reviewed missense c.6863 p.V2288A 1.000 HMMSmart_SM00237 HMMSmart_SM00237,HMMPfam_Calx-beta,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP,PatternScan_A_DEAMINASE,PatternScan_LIPOYL,HMMPfam_GPS - no_errors RBMS2P 643427 genome.wustl.edu 36 12 93342049 93342049 + RNA SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 93342049 93342049 C T SNP RBMS2P XR_016607 human genbank 54_36p -1 model rna NULL NULL 0.993 - - - pseudogene HEPHL1 341208 genome.wustl.edu 36 11 93436458 93436458 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 93436458 93436458 G C SNP HEPHL1 NM_001098672 human genbank 54_36p +1 validated missense c.552 p.W184C 1.000 superfamily_Cupredoxin superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2 - no_errors TEKT4 150483 genome.wustl.edu 36 2 94901214 94901214 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 94901214 94901214 G A SNP TEKT4 NM_144705 human genbank 54_36p +1 provisional missense c.163 p.A55T 1.000 HMMPfam_Tektin HMMPfam_Tektin - no_errors DPY19L4 286148 genome.wustl.edu 36 8 95820825 95820825 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 95820825 95820825 G A SNP DPY19L4 NM_181787 human genbank 54_36p +1 validated missense c.352 p.E118K 1.000 HMMPfam_DUF2211 HMMPfam_DUF2211 - no_errors CNGA3 1261 genome.wustl.edu 36 2 98380114 98380114 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 98380114 98380114 C T SNP CNGA3 NM_001298 human genbank 54_36p +1 reviewed silent c.2049 p.P683 0.652 NULL superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors C14orf68 283600 genome.wustl.edu 36 14 99865608 99865608 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 99865608 99865608 G A SNP C14orf68 NM_207117 human genbank 54_36p +1 validated missense c.800 p.R267Q 0.910 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr HMMPfam_Mito_carr,superfamily_Mitochondrial carrier - no_errors PLOD3 8985 genome.wustl.edu 36 7 100642336 100642336 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 100642336 100642336 G A SNP PLOD3 NM_001084 human genbank 54_36p -1 reviewed nonsense c.1045 p.Q349* 0.653 NULL HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE - no_errors GLT8D2 83468 genome.wustl.edu 36 12 102917333 102917333 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 102917333 102917333 T A SNP GLT8D2 NM_031302 human genbank 54_36p -1 provisional missense c.374 p.D125V 1.000 superfamily_SSF53448,HMMPfam_Glyco_transf_8 superfamily_SSF53448,HMMPfam_Glyco_transf_8 - no_errors NFKB1 4790 genome.wustl.edu 36 4 103707253 103707253 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 103707253 103707253 C T SNP NFKB1 NM_003998 human genbank 54_36p +1 reviewed missense c.332 p.A111V 1.000 superfamily_P53_like_DNA_bnd,HMMPfam_RHD,superfamily_ANK superfamily_P53_like_DNA_bnd,HMMPfam_RHD,PatternScan_REL_1,superfamily_ANK,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Ank,HMMSmart_ANK,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors BTBD11 121551 genome.wustl.edu 36 12 106536183 106536183 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 106536183 106536183 G A SNP BTBD11 NM_001018072 human genbank 54_36p +1 validated missense c.2350 p.A784T 0.995 NULL superfamily_Histone-fold,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors SEPT10 151011 genome.wustl.edu 36 2 109659068 109659068 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 109659068 109659068 A C SNP SEPT10 ENST00000356688 human ensembl 54_36p -1 known missense c.1468 p.F490V 0.062 NULL superfamily_SSF52540,HMMPfam_Septin - no_start_codon LRRN3 54674 genome.wustl.edu 36 7 110550913 110550913 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 110550913 110550913 G A SNP LRRN3 NM_001099658 human genbank 54_36p +1 validated missense c.849 p.M283I 1.000 superfamily_L domain-like,HMMPfam_LRR_1 superfamily_L domain-like,HMMSmart_SM00013,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors SVEP1 79987 genome.wustl.edu 36 9 112213507 112213507 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 112213507 112213507 A T SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.6305 p.F2102Y 1.000 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Growth factor receptor domain,PatternScan_EGF_2,HMMPfam_GCC2_GCC3,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Pentaxin,HMMPfam_EGF_CA,HMMPfam_EGF_2 - no_errors USP28 57646 genome.wustl.edu 36 11 113199537 113199537 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 113199537 113199537 C G SNP USP28 NM_020886 human genbank 54_36p -1 validated missense c.1283 p.R428T 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_UBA-like,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_CPSASE_2 - no_errors TBX5 6910 genome.wustl.edu 36 12 113307682 113307682 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 113307682 113307682 C A SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.737 p.R246I 1.000 NULL superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors AP4B1 10717 genome.wustl.edu 36 1 114240417 114240417 + Missense_Mutation SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 114240417 114240417 A G SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.1496 p.L499S 0.993 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C - no_errors C9orf43 257169 genome.wustl.edu 36 9 115225513 115225513 + Silent SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 115225513 115225513 C G SNP C9orf43 NM_152786 human genbank 54_36p +1 predicted silent c.570 p.T190 0.065 NULL NULL - no_errors LOC728693 728693 genome.wustl.edu 36 12 115678029 115678029 + RNA SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 115678029 115678029 G C SNP LOC728693 XR_015773 human genbank 54_36p -1 model rna NULL NULL 0.995 - - - pseudogene AMBP 259 genome.wustl.edu 36 9 115880195 115880195 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 115880195 115880195 C G SNP AMBP NM_001633 human genbank 54_36p -1 reviewed missense c.116 p.R39P 0.862 superfamily_Calycin,PatternScan_LIPOCALIN superfamily_Calycin,PatternScan_LIPOCALIN,HMMPfam_Lipocalin,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors INSIG2 51141 genome.wustl.edu 36 2 118580782 118580782 + Splice_Site SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 118580782 118580782 G T SNP INSIG2 NM_016133 human genbank 54_36p +1 reviewed splice_site c.370-1 e3-1 1.000 - - - no_errors SRFBP1 153443 genome.wustl.edu 36 5 121382897 121382897 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 121382897 121382897 T C SNP SRFBP1 NM_152546 human genbank 54_36p +1 validated missense c.314 p.V105A 0.391 NULL HMMPfam_BUD22 - no_errors C6orf170 221322 genome.wustl.edu 36 6 121655007 121655007 + Silent SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 6 121655007 121655007 T C SNP C6orf170 NM_152730 human genbank 54_36p -1 validated silent c.1263 p.G421 1.000 NULL superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122895356 122895356 + Missense_Mutation SNP T T G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 122895356 122895356 T G SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.6689 p.E2230A 1.000 NULL superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340 - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345356 123345356 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 X 123345356 123345356 C G SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.7085 p.G2362A 1.000 NULL HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat - no_errors DERL1 79139 genome.wustl.edu 36 8 124123541 124123541 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 124123541 124123541 C T SNP DERL1 NM_024295 human genbank 54_36p -1 validated missense c.3 p.M1I 1.000 NULL HMMPfam_DER1 - no_errors HEPN1 641654 genome.wustl.edu 36 11 124295054 124295054 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 124295054 124295054 C T SNP HEPN1 NM_001037558 human genbank 54_36p +1 provisional silent c.198 p.F66 0.000 NULL NULL - no_errors ALDH1L1 10840 genome.wustl.edu 36 3 127356126 127356126 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 127356126 127356126 G T SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.681 p.N227K 0.996 superfamily_FMT_C_like,HMMPfam_Formyl_trans_C PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors ETS1 2113 genome.wustl.edu 36 11 127864585 127864585 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 127864585 127864585 C A SNP ETS1 NM_005238 human genbank 54_36p -1 validated missense c.213 p.Q71H 1.000 superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251 "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131562867 131562867 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 131562867 131562867 C G SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.1765 p.A589P 1.000 NULL superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors TG 7038 genome.wustl.edu 36 8 133954607 133954607 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 133954607 133954607 C T SNP TG NM_003235 human genbank 54_36p +1 validated silent c.597 p.T199 1.000 superfamily_Thyroglobulin type-1 domain superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors SETX 23064 genome.wustl.edu 36 9 134193389 134193389 + Silent SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 9 134193389 134193389 T C SNP SETX NM_015046 human genbank 54_36p -1 reviewed silent c.3417 p.E1139 0.031 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors FAM135B 51059 genome.wustl.edu 36 8 139214033 139214033 + Silent SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 139214033 139214033 G T SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.4206 p.L1402 1.000 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676 - no_errors TSNARE1 203062 genome.wustl.edu 36 8 143379887 143379887 + Missense_Mutation SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 8 143379887 143379887 A G SNP TSNARE1 NM_145003 human genbank 54_36p -1 validated missense c.1157 p.L386P 0.995 superfamily_t-snare superfamily_t-snare,HMMSmart_t_SNARE,HMMPfam_SNARE - no_errors TRPC1 7220 genome.wustl.edu 36 3 143994446 143994446 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 143994446 143994446 T A SNP TRPC1 NM_003304 human genbank 54_36p +1 validated missense c.1426 p.Y476N 1.000 HMMPfam_Ion_trans superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144271532 144271532 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 144271532 144271532 G A SNP ANKRD35 NM_144698 human genbank 54_36p +1 validated missense c.661 p.D221N 0.437 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors ZEB2 9839 genome.wustl.edu 36 2 144878893 144878893 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 144878893 144878893 G C SNP ZEB2 NM_014795 human genbank 54_36p -1 validated missense c.572 p.A191G 1.000 NULL PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX - no_errors GJA8 2703 genome.wustl.edu 36 1 145847066 145847066 + Silent SNP T T G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 145847066 145847066 T G SNP GJA8 NM_005267 human genbank 54_36p +1 validated silent c.360 p.T120 0.375 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin50 - no_errors CNTNAP2 26047 genome.wustl.edu 36 7 146167867 146167867 + Silent SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 146167867 146167867 C A SNP CNTNAP2 NM_014141 human genbank 54_36p +1 reviewed silent c.340 p.R114 1.000 HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294 - no_errors TM4SF1 4071 genome.wustl.edu 36 3 150577963 150577963 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 150577963 150577963 C G SNP TM4SF1 NM_014220 human genbank 54_36p -1 reviewed missense c.62 p.C21S 1.000 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors FLG2 388698 genome.wustl.edu 36 1 150594679 150594679 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 150594679 150594679 C T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.2207 p.G736E 0.191 HMMPfam_SVS_QK superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin - no_errors LRBA 987 genome.wustl.edu 36 4 151406338 151406338 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 151406338 151406338 G C SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.8578 p.Q2860E 1.000 superfamily_WD40 repeat-like superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors RIF1 55183 genome.wustl.edu 36 2 152030527 152030527 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 152030527 152030527 A T SNP RIF1 NM_018151 human genbank 54_36p +1 validated missense c.6247 p.N2083Y 0.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1 - no_errors SYNE1 23345 genome.wustl.edu 36 6 152618541 152618541 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 6 152618541 152618541 C G SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.19138 p.E6380Q 1.000 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,HMMPfam_KASH - no_errors F8 2157 genome.wustl.edu 36 X 153788041 153788041 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 X 153788041 153788041 C T SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.5221 p.A1741T 0.741 superfamily_Cupredoxins superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors TLR2 7097 genome.wustl.edu 36 4 154844656 154844656 + Missense_Mutation SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 154844656 154844656 G A SNP TLR2 NM_003264 human genbank 54_36p +1 reviewed missense c.1147 p.E383K 0.265 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR - no_errors COPA 1314 genome.wustl.edu 36 1 158559852 158559852 + Silent SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 158559852 158559852 G T SNP COPA NM_001098398 human genbank 54_36p -1 reviewed silent c.699 p.R233 0.993 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_Coatomer_WDAD,HMMPfam_COPI_C,superfamily_Calret_calnex_P - no_errors IFIH1 64135 genome.wustl.edu 36 2 162853016 162853016 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 162853016 162853016 T A SNP IFIH1 NM_022168 human genbank 54_36p -1 reviewed missense c.970 p.N324Y 1.000 HMMSmart_SM00487,HMMPfam_ResIII,superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00487,HMMPfam_ResIII,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors ILDR2 387597 genome.wustl.edu 36 1 165162946 165162946 + Missense_Mutation SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 165162946 165162946 T C SNP ILDR2 NM_199351 human genbank 54_36p -1 provisional missense c.976 p.R326G 1.000 NULL superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_LSR - no_errors F5 2153 genome.wustl.edu 36 1 167782411 167782411 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 167782411 167782411 T A SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.1655 p.D552V 1.000 superfamily_Cupredoxins superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors PAPPA2 60676 genome.wustl.edu 36 1 175006865 175006865 + Silent SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 175006865 175006865 C T SNP PAPPA2 NM_020318 human genbank 54_36p +1 validated silent c.4641 p.D1547 0.888 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00004,HMMPfam_Notch,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M43,PatternScan_N6_MTASE,superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Notch domain" - no_errors GPR155 151556 genome.wustl.edu 36 2 175054909 175054909 + Missense_Mutation SNP C C G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 175054909 175054909 C G SNP GPR155 NM_001033045 human genbank 54_36p -1 validated missense c.22 p.E8Q 0.850 NULL "HMMPfam_Mem_trans,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP" - no_errors TTN 7273 genome.wustl.edu 36 2 179134009 179134009 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 179134009 179134009 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.73039 p.V24347I 0.912 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179184921 179184921 + Missense_Mutation SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 179184921 179184921 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.38306 p.V12769G 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors TTN 7273 genome.wustl.edu 36 2 179205228 179205228 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 179205228 179205228 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.31584 p.D10528 0.966 HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors TTN 7273 genome.wustl.edu 36 2 179237029 179237029 + Missense_Mutation SNP A A T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 179237029 179237029 A T SNP TTN ENST00000392423 human ensembl 54_36p -1 known missense c.1144 p.S382T 0.000 NULL HMMPfam_PPAK - no_start_codon:no_stop_codon NCKAP1 10787 genome.wustl.edu 36 2 183503735 183503735 + Silent SNP T T C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 183503735 183503735 T C SNP NCKAP1 NM_205842 human genbank 54_36p -1 validated silent c.2904 p.S968 0.729 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors FLJ44048 401024 genome.wustl.edu 36 2 186379577 186379577 + Missense_Mutation SNP A A G novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 186379577 186379577 A G SNP FLJ44048 NM_207482 human genbank 54_36p +1 validated missense c.1393 p.K465E 0.004 NULL NULL - no_errors LRP2BP 55805 genome.wustl.edu 36 4 186536264 186536264 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 186536264 186536264 T A SNP LRP2BP NM_018409 human genbank 54_36p -1 validated missense c.71 p.N24I 0.001 NULL superfamily_HCP-like,HMMPfam_TPR_2,HMMSmart_SM00671,HMMPfam_Sel1 - no_errors TRIML2 205860 genome.wustl.edu 36 4 189249732 189249732 + Missense_Mutation SNP T T A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 4 189249732 189249732 T A SNP TRIML2 NM_173553 human genbank 54_36p -1 provisional missense c.953 p.D318V 0.002 HMMPfam_SPRY HMMSmart_PRY,HMMPfam_SPRY - no_errors CFH 3075 genome.wustl.edu 36 1 194979359 194979359 + Missense_Mutation SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 194979359 194979359 G T SNP CFH NM_000186 human genbank 54_36p +1 reviewed missense c.3288 p.W1096C 0.944 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391710 204391710 + Missense_Mutation SNP C C T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 204391710 204391710 C T SNP AVPR1B NM_000707 human genbank 54_36p +1 reviewed missense c.647 p.T216M 0.951 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 LOC100131192 0 genome.wustl.edu 36 1 204769484 204769484 + RNA SNP A A C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 204769484 204769484 A C SNP LOC100131192 XR_037173 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene CPO 130749 genome.wustl.edu 36 2 207512601 207512601 + Silent SNP G G A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 207512601 207512601 G A SNP CPO NM_173077 human genbank 54_36p +1 validated silent c.33 p.L11 0.527 NULL PatternScan_CARBOXYPEPT_ZN_2,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1 - no_errors KCNK2 3776 genome.wustl.edu 36 1 213409164 213409164 + Splice_Site SNP G G T novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 213409164 213409164 G T SNP KCNK2 NM_001017425 human genbank 54_36p +1 reviewed splice_site c.476-1 e4-1 1.000 - - - no_errors ACTN2 88 genome.wustl.edu 36 1 234948829 234948829 + Missense_Mutation SNP C C A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 234948829 234948829 C A SNP ACTN2 NM_001103 human genbank 54_36p +1 reviewed missense c.254 p.P85H 1.000 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen - no_errors RYR2 6262 genome.wustl.edu 36 1 235904081 235904081 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 235904081 235904081 G C SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.8653 p.D2885H 1.000 HMMPfam_RyR HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors GBX2 2637 genome.wustl.edu 36 2 236739568 236739568 + Missense_Mutation SNP G G C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 236739568 236739568 G C SNP GBX2 NM_001485 human genbank 54_36p -1 validated missense c.775 p.L259V 1.000 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LOC399988 399988 genome.wustl.edu 36 12 4078213 4078213 + RNA DEL T T - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 12 4078213 4078213 T - DEL LOC399988 XR_016353 human genbank 54_36p +1 model rna NULL NULL 0.996 - - (deletion:rna[4077632,4079033]) pseudogene TP53 7157 genome.wustl.edu 36 17 7520046 7520047 + Frame_Shift_Del DEL CA CA - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 7520046 7520047 CA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.366_365 p.V122fs 0.615:0.928 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 (deletion:cds_exon[7520037,7520315]) no_errors CTR9 9646 genome.wustl.edu 36 11 10752174 10752175 + Frame_Shift_Del DEL GA GA - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 11 10752174 10752175 GA - DEL CTR9 NM_014633 human genbank 54_36p +1 provisional frame_shift_del c.2767_2768 p.D923fs 1.000:1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR (deletion:cds_exon[10752135,10752292]) no_errors CACNA2D2 9254 genome.wustl.edu 36 3 50379010 50379011 + Splice_Site INS - - A novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 50379010 50379011 - A INS CACNA2D2 NM_001005505 human genbank 54_36p -1 reviewed splice_site_ins c.2637+2_2637+1 e30+2 0.155:0.989 - - - no_errors LOC388122 388122 genome.wustl.edu 36 15 50965698 50965705 + Frame_Shift_Del DEL AGAGACTG AGAGACTG - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 AGAGACTG AGAGACTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 15 50965698 50965705 AGAGACTG - DEL LOC388122 XM_370865 human genbank 54_36p +1 model frame_shift_del c.615_622 p.E206fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL superfamily_Ribosomal protein S2,HMMPfam_Ribosomal_S2,PatternScan_RIBOSOMAL_S2_2 (deletion:cds_exon[50965084,50965962]) pseudogene C14orf53 440184 genome.wustl.edu 36 14 66023062 66023063 + Frame_Shift_Del DEL TC TC - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 TC TC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 14 66023062 66023063 TC - DEL C14orf53 ENST00000389594 human ensembl 54_36p +1 known frame_shift_del c.21_22 p.S11fs 0.000:0.000 NULL NULL (deletion:cds_exon[66023042,66023280]) no_errors LLGL2 3993 genome.wustl.edu 36 17 71063797 71063803 + Frame_Shift_Del DEL ACCCGTT ACCCGTT - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 ACCCGTT ACCCGTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 17 71063797 71063803 ACCCGTT - DEL LLGL2 NM_001031803 human genbank 54_36p +1 reviewed frame_shift_del c.151_157 p.T51fs 0.998:0.998:0.930:0.935:0.933:0.897:0.987 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,HMMPfam_WD40,PatternScan_WD_REPEATS_1 (deletion:cds_exon[71063722,71063819]) no_errors EEF1A1 1915 genome.wustl.edu 36 6 74285819 74285820 + Frame_Shift_Del DEL TG TG - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 6 74285819 74285820 TG - DEL EEF1A1 NM_001402 human genbank 54_36p -1 reviewed frame_shift_del c.286_285 p.H95fs 1.000:1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain (deletion:cds_exon[74285781,74285960]) no_errors CAMK4 814 genome.wustl.edu 36 5 110841980 110841987 + Frame_Shift_Del DEL TTTGTGGA TTTGTGGA - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 TTTGTGGA TTTGTGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 5 110841980 110841987 TTTGTGGA - DEL CAMK4 NM_001744 human genbank 54_36p +1 reviewed frame_shift_del c.704_711 p.C236fs 1.000:0.990:1.000:1.000:1.000:1.000:1.000:0.999 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST (deletion:cds_exon[110841978,110842104]) no_errors ENOX2 10495 genome.wustl.edu 36 X 129631697 129631697 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 X 129631697 129631697 C - DEL ENOX2 NM_182314 human genbank 54_36p -1 reviewed frame_shift_del c.704 p.R235fs 0.993 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 (deletion:cds_exon[129631620,129631853]) no_errors LOC339742 339742 genome.wustl.edu 36 2 132823314 132823315 + Frame_Shift_Ins INS - - C novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 2 132823314 132823315 - C INS LOC339742 XM_929883 human genbank 54_36p +1 model frame_shift_ins c.10_11 p.I4fs 0.008:0.007 NULL NULL - no_errors TOPBP1 11073 genome.wustl.edu 36 3 134851405 134851405 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 3 134851405 134851405 G - DEL TOPBP1 NM_007027 human genbank 54_36p -1 reviewed frame_shift_del c.901 p.R301fs 1.000 HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT superfamily_BRCT,HMMPfam_BRCT,HMMSmart_BRCT,superfamily_Secretoglobin (deletion:cds_exon[134851314,134851477]) no_errors CNTNAP2 26047 genome.wustl.edu 36 7 147557785 147557787 + In_Frame_Del DEL AGA AGA - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 AGA AGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 7 147557785 147557787 AGA - DEL CNTNAP2 NM_014141 human genbank 54_36p +1 reviewed in_frame_del c.3362_3364 p.K1122in_frame_del 0.062:0.036:0.022 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294 (deletion:cds_exon[147557671,147557804]) no_errors PROX1 5629 genome.wustl.edu 36 1 212237495 212237498 + Frame_Shift_Del DEL AAAG AAAG - novel unknown TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 AAAG AAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cd97680-82f8-4827-bc49-f3bb5e413b0e bebb3242-ccdf-4555-8153-5e66c94046e8 1 212237495 212237498 AAAG - DEL PROX1 NM_002763 human genbank 54_36p +1 provisional frame_shift_del c.994_997 p.R334fs 1.000:1.000:1.000:1.000 HMMPfam_Prox1 HMMPfam_Prox1,superfamily_Homeodomain_like (deletion:cds_exon[212236502,212238226]) no_errors