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 PKD1 5310 genome.wustl.edu 36 16 2098973 2098973 + Missense_Mutation SNP G C C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 2098973 2098973 G C SNP PKD1 NM_001009944 human genbank 54_36p -1 reviewed missense c.6196 p.L2066V 0.833 superfamily_PKD domain,HMMSmart_SM00089,HMMPfam_PKD HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00321,HMMPfam_WSC,HMMSmart_SM00089,superfamily_PKD domain,HMMPfam_PKD,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_REJ,HMMPfam_GPS,HMMSmart_SM00303,HMMSmart_SM00308,HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel - no_errors ADCY9 115 genome.wustl.edu 36 16 3956941 3956941 + Silent SNP C T T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 3956941 3956941 C T SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed silent c.2898 p.S966 0.000 NULL HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors PPL 5493 genome.wustl.edu 36 16 4880816 4880816 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 4880816 4880816 C G SNP PPL NM_002705 human genbank 54_36p -1 reviewed missense c.2076 p.E692D 1.000 superfamily_Spectrin repeat HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors EVC2 132884 genome.wustl.edu 36 4 5750255 5750255 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 4 5750255 5750255 C A SNP EVC2 NM_147127 human genbank 54_36p -1 validated missense c.249 p.W83C 0.002 NULL NULL - no_errors EIF4A1 1973 genome.wustl.edu 36 17 7422468 7422468 + Silent SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 17 7422468 7422468 T C SNP EIF4A1 NM_001416 human genbank 54_36p +1 validated silent c.1161 p.I387 0.934 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors TP53 7157 genome.wustl.edu 36 17 7517820 7517820 + Missense_Mutation SNP G C C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 17 7517820 7517820 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.843 p.D281E 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors SLC2A14 144195 genome.wustl.edu 36 12 7875488 7875488 + Missense_Mutation SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 12 7875488 7875488 A G SNP SLC2A14 NM_153449 human genbank 54_36p -1 provisional missense c.320 p.L107P 1.000 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors PIK3R5 23533 genome.wustl.edu 36 17 8734928 8734928 + Missense_Mutation SNP T C C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 17 8734928 8734928 T C SNP PIK3R5 NM_014308 human genbank 54_36p -1 validated missense c.509 p.E170G 1.000 HMMPfam_PI3K_1B_p101 HMMPfam_PI3K_1B_p101 - no_errors C16orf72 29035 genome.wustl.edu 36 16 9118088 9118088 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 9118088 9118088 G T SNP C16orf72 NM_014117 human genbank 54_36p +1 validated missense c.646 p.V216L 1.000 NULL NULL - no_errors TARDBP 23435 genome.wustl.edu 36 1 10996596 10996596 + Silent SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 10996596 10996596 C G SNP TARDBP NM_007375 human genbank 54_36p +1 reviewed silent c.225 p.V75 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors WNT7A 7476 genome.wustl.edu 36 3 13871260 13871260 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 13871260 13871260 C A SNP WNT7A NM_004625 human genbank 54_36p -1 reviewed missense c.340 p.G114C 0.994 HMMPfam_wnt,HMMSmart_SM00097 HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 - no_errors DDI2 84301 genome.wustl.edu 36 1 15829604 15829604 + Missense_Mutation SNP A A T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 15829604 15829604 A T SNP DDI2 NM_032341 human genbank 54_36p +1 provisional missense c.466 p.N156Y 1.000 NULL superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMPfam_Asp_protease,superfamily_Acid proteases - no_errors USH1C 10083 genome.wustl.edu 36 11 17488558 17488558 + Silent SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 17488558 17488558 C T SNP USH1C NM_153676 human genbank 54_36p -1 reviewed silent c.1500 p.Q500 1.000 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors PLEKHA5 54477 genome.wustl.edu 36 12 19327740 19327740 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 12 19327740 19327740 C A SNP PLEKHA5 NM_019012 human genbank 54_36p +1 validated missense c.1555 p.P519T 1.000 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors AIFM3 150209 genome.wustl.edu 36 22 19660564 19660564 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 22 19660564 19660564 T C SNP AIFM3 NM_144704 human genbank 54_36p +1 provisional missense c.868 p.Y290H 1.000 superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2 HMMPfam_Rieske,superfamily_ISP domain,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain - no_errors C20orf26 26074 genome.wustl.edu 36 20 20125351 20125351 + Silent SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 20 20125351 20125351 G A SNP C20orf26 NM_015585 human genbank 54_36p +1 predicted silent c.1728 p.K576 1.000 NULL superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain - no_errors C15orf2 23742 genome.wustl.edu 36 15 22473626 22473626 + Missense_Mutation SNP T T A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 15 22473626 22473626 T A SNP C15orf2 NM_018958 human genbank 54_36p +1 validated missense c.1519 p.F507I 0.009 NULL NULL - no_errors SUSD2 56241 genome.wustl.edu 36 22 22912233 22912233 + Missense_Mutation SNP A A C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 22 22912233 22912233 A C SNP SUSD2 NM_019601 human genbank 54_36p +1 validated missense c.1492 p.T498P 0.005 HMMSmart_VWD,HMMPfam_VWD HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,HMMSmart_AMOP,HMMPfam_AMOP,HMMSmart_VWD,HMMPfam_VWD,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors SCGN 10590 genome.wustl.edu 36 6 25790167 25790167 + Missense_Mutation SNP T T G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 25790167 25790167 T G SNP SCGN NM_006998 human genbank 54_36p +1 reviewed missense c.481 p.F161V 1.000 superfamily_EF-hand,HMMSmart_SM00054 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors CDH9 1007 genome.wustl.edu 36 5 26951631 26951631 + Silent SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 5 26951631 26951631 C T SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed silent c.387 p.K129 1.000 superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors RNF138 51444 genome.wustl.edu 36 18 27963117 27963117 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 18 27963117 27963117 C T SNP RNF138 NM_016271 human genbank 54_36p +1 reviewed missense c.707 p.A236V 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors BAMBI 25805 genome.wustl.edu 36 10 29006851 29006851 + Missense_Mutation SNP T T A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 10 29006851 29006851 T A SNP BAMBI NM_012342 human genbank 54_36p +1 reviewed missense c.19 p.Y7N 1.000 HMMPfam_BAMBI HMMPfam_BAMBI,superfamily_SSF57302 - no_errors C21orf7 56911 genome.wustl.edu 36 21 29443389 29443389 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 21 29443389 29443389 C T SNP C21orf7 NM_020152 human genbank 54_36p +1 provisional missense c.379 p.P127S 0.955 NULL NULL - no_errors SLFN5 162394 genome.wustl.edu 36 17 30610644 30610644 + Missense_Mutation SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 17 30610644 30610644 A G SNP SLFN5 NM_144975 human genbank 54_36p +1 validated missense c.822 p.I274M 0.000 HMMPfam_AAA_4 HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ADCYAP1R1 117 genome.wustl.edu 36 7 31090931 31090931 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 31090931 31090931 C G SNP ADCYAP1R1 NM_001118 human genbank 54_36p +1 reviewed missense c.493 p.L165V 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2 superfamily_Hormone receptor domain (HRM Pfam 02793),HMMSmart_SM00008,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors AVL9 23080 genome.wustl.edu 36 7 32501935 32501935 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 32501935 32501935 G A SNP AVL9 NM_015060 human genbank 54_36p +1 provisional missense c.89 p.C30Y 1.000 HMMPfam_Avl9 HMMPfam_Avl9 - no_errors CEP250 11190 genome.wustl.edu 36 20 33553854 33553854 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 20 33553854 33553854 C G SNP CEP250 NM_007186 human genbank 54_36p +1 reviewed missense c.4243 p.Q1415E 0.838 NULL superfamily_Prefoldin - no_errors STAR 6770 genome.wustl.edu 36 8 38121912 38121912 + Silent SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 8 38121912 38121912 G C SNP STAR NM_000349 human genbank 54_36p -1 reviewed silent c.729 p.L243 1.000 superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 - no_errors EGFLAM 133584 genome.wustl.edu 36 5 38463035 38463035 + Missense_Mutation SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 5 38463035 38463035 G C SNP EGFLAM NM_152403 human genbank 54_36p +1 validated missense c.1978 p.D660H 1.000 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2 - no_errors SEC23A 10484 genome.wustl.edu 36 14 38631502 38631502 + Silent SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 38631502 38631502 T C SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed silent c.360 p.V120 1.000 superfamily_SSF81995,superfamily_Znf_Sec23_Sec24 superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin - no_errors DNAH8 1769 genome.wustl.edu 36 6 38970458 38970458 + Nonsense_Mutation SNP A A T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 38970458 38970458 A T SNP DNAH8 NM_001371 human genbank 54_36p +1 validated nonsense c.7936 p.K2646* 0.999 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors BRWD1 54014 genome.wustl.edu 36 21 39506463 39506463 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 21 39506463 39506463 C A SNP BRWD1 NM_018963 human genbank 54_36p -1 reviewed missense c.3899 p.R1300I 1.000 superfamily_WD40 repeat-like,superfamily_Bromodomain HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors UBTF 7343 genome.wustl.edu 36 17 39643020 39643020 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 17 39643020 39643020 C T SNP UBTF NM_014233 human genbank 54_36p -1 validated missense c.1624 p.E542K 1.000 superfamily_HMG-box,HMMSmart_SM00398 superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box - no_errors CCDC13 152206 genome.wustl.edu 36 3 42763806 42763806 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 42763806 42763806 C A SNP CCDC13 NM_144719 human genbank 54_36p -1 validated missense c.667 p.D223Y 0.996 NULL NULL - no_errors ZNF318 24149 genome.wustl.edu 36 6 43414990 43414990 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 43414990 43414990 C T SNP ZNF318 NM_014345 human genbank 54_36p -1 validated missense c.4724 p.S1575N 1.000 NULL HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF318 24149 genome.wustl.edu 36 6 43431024 43431024 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 43431024 43431024 G T SNP ZNF318 NM_014345 human genbank 54_36p -1 validated missense c.2026 p.L676I 0.994 NULL HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors POFUT2 23275 genome.wustl.edu 36 21 45532181 45532181 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 21 45532181 45532181 C G SNP POFUT2 NM_133635 human genbank 54_36p -1 validated missense c.34 p.G12R 0.012 NULL HMMPfam_O-FucT - no_errors ATP10D 57205 genome.wustl.edu 36 4 47287934 47287934 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 4 47287934 47287934 G A SNP ATP10D NM_020453 human genbank 54_36p +1 validated missense c.4060 p.G1354R 0.000 NULL HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3 - no_errors ADCY7 113 genome.wustl.edu 36 16 48906510 48906510 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 48906510 48906510 C T SNP ADCY7 NM_001114 human genbank 54_36p +1 reviewed missense c.3056 p.A1019V 1.000 HMMSmart_CYCc,HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1 - no_errors EBPL 84650 genome.wustl.edu 36 13 49133198 49133198 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 13 49133198 49133198 C T SNP EBPL NM_032565 human genbank 54_36p -1 provisional nonsense c.528 p.W176* 1.000 HMMPfam_EBP HMMPfam_EBP - no_errors LAMB2 3913 genome.wustl.edu 36 3 49135311 49135311 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 49135311 49135311 G A SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.4403 p.A1468V 0.824 NULL HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2 - no_errors NOD2 64127 genome.wustl.edu 36 16 49316944 49316944 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 49316944 49316944 G A SNP NOD2 NM_022162 human genbank 54_36p +1 reviewed missense c.2926 p.A976T 0.855 superfamily_RNI-like,HMMSmart_SM00368 HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1 - no_errors BCAM 4059 genome.wustl.edu 36 19 50009273 50009273 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 19 50009273 50009273 G A SNP BCAM NM_005581 human genbank 54_36p +1 reviewed nonsense c.809 p.W270* 0.998 superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig - no_errors TLR9 54106 genome.wustl.edu 36 3 52232160 52232160 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 52232160 52232160 G T SNP TLR9 NM_017442 human genbank 54_36p -1 reviewed missense c.1212 p.N404K 0.616 superfamily_L domain-like,HMMSmart_SM00369 superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00364,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors FTO 79068 genome.wustl.edu 36 16 52417440 52417440 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 52417440 52417440 G T SNP FTO NM_001080432 human genbank 54_36p +1 provisional missense c.287 p.R96L 1.000 NULL NULL - no_errors PODN 127435 genome.wustl.edu 36 1 53317083 53317083 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 53317083 53317083 C T SNP PODN NM_153703 human genbank 54_36p +1 validated missense c.1457 p.S486L 0.999 superfamily_SSF52047,HMMSmart_LRR_TYP,HMMPfam_LRR_1 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047 - no_errors BMP4 652 genome.wustl.edu 36 14 53486517 53486517 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 53486517 53486517 C G SNP BMP4 NM_001202 human genbank 54_36p -1 reviewed missense c.1210 p.G404R 1.000 superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204 HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors SYNGR4 23546 genome.wustl.edu 36 19 53570792 53570792 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 19 53570792 53570792 G T SNP SYNGR4 NM_012451 human genbank 54_36p +1 reviewed missense c.442 p.A148S 0.978 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors KDR 3791 genome.wustl.edu 36 4 55663369 55663369 + Missense_Mutation SNP A A T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 4 55663369 55663369 A T SNP KDR NM_002253 human genbank 54_36p -1 validated missense c.2051 p.I684N 0.998 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors GNAS 2778 genome.wustl.edu 36 20 56848754 56848754 + Silent SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 20 56848754 56848754 C T SNP GNAS NM_016592 human genbank 54_36p +1 reviewed silent c.198 p.N66 0.998 HMMPfam_NESP55 HMMPfam_NESP55 - no_errors FPR1 2357 genome.wustl.edu 36 19 56941832 56941832 + Silent SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 19 56941832 56941832 G A SNP FPR1 NM_002029 human genbank 54_36p -1 validated silent c.228 p.S76 0.030 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 SYCP2 10388 genome.wustl.edu 36 20 57885975 57885975 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 20 57885975 57885975 C A SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed missense c.3010 p.D1004Y 0.000 NULL NULL - no_errors OR5A1 219982 genome.wustl.edu 36 11 58967788 58967788 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 58967788 58967788 T C SNP OR5A1 NM_001004728 human genbank 54_36p +1 provisional missense c.571 p.S191P 0.955 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4D9 390199 genome.wustl.edu 36 11 59039187 59039187 + Missense_Mutation SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 59039187 59039187 A G SNP OR4D9 NM_001004711 human genbank 54_36p +1 provisional missense c.226 p.I76V 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TFPT 29844 genome.wustl.edu 36 19 59309707 59309707 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 19 59309707 59309707 C T SNP TFPT NM_013342 human genbank 54_36p -1 validated missense c.209 p.R70Q 0.856 NULL NULL - no_errors CNOT3 4849 genome.wustl.edu 36 19 59347777 59347777 + Silent SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 19 59347777 59347777 C T SNP CNOT3 NM_014516 human genbank 54_36p +1 validated silent c.1608 p.A536 0.998 NULL HMMPfam_Not3,HMMPfam_NOT2_3_5 - no_errors LAMA5 3911 genome.wustl.edu 36 20 60346920 60346920 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 20 60346920 60346920 C G SNP LAMA5 NM_005560 human genbank 54_36p -1 reviewed missense c.1617 p.Q539H 1.000 HMMSmart_SM00181,PatternScan_EGF_LAM_1 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_TNFR_NGFR_1,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors LOC647262 647262 genome.wustl.edu 36 13 63219073 63219073 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 13 63219073 63219073 G A SNP LOC647262 XM_934622 human genbank 54_36p +1 model missense c.139 p.G47S 0.094 NULL NULL - no_errors IL26 55801 genome.wustl.edu 36 12 66905768 66905768 + Silent SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 12 66905768 66905768 C A SNP IL26 NM_018402 human genbank 54_36p -1 reviewed silent c.36 p.L12 0.018 NULL superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10,HMMPfam_IL10 - no_errors COG4 25839 genome.wustl.edu 36 16 69087819 69087819 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 16 69087819 69087819 T C SNP COG4 NM_015386 human genbank 54_36p -1 validated missense c.1498 p.K500E 1.000 HMMPfam_COG4,HMMSmart_SM00762 HMMPfam_COG4,HMMSmart_SM00762 - no_errors BAI3 577 genome.wustl.edu 36 6 69405720 69405720 + Silent SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 69405720 69405720 A G SNP BAI3 NM_001704 human genbank 54_36p +1 reviewed silent c.432 p.K144 1.000 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors DLG3 1741 genome.wustl.edu 36 X 69586879 69586879 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 69586879 69586879 C T SNP DLG3 NM_021120 human genbank 54_36p +1 validated missense c.839 p.A280V 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 HMMPfam_MAGUK_N_PEST,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PDZ_assoc,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C - no_errors UGT2A3 79799 genome.wustl.edu 36 4 69851634 69851634 + Missense_Mutation SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 4 69851634 69851634 A G SNP UGT2A3 NM_024743 human genbank 54_36p -1 validated missense c.434 p.V145A 0.362 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT PatternScan_HMA_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors POM121 9883 genome.wustl.edu 36 7 72051851 72051851 + Missense_Mutation SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 72051851 72051851 G C SNP POM121 NM_172020 human genbank 54_36p +1 reviewed missense c.2588 p.S863T 0.158 NULL NULL - no_errors LOC729841 729841 genome.wustl.edu 36 11 73310417 73310417 + RNA SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 73310417 73310417 C G SNP LOC729841 XR_016017 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TMC1 117531 genome.wustl.edu 36 9 74625728 74625728 + Silent SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 9 74625728 74625728 C T SNP TMC1 NM_138691 human genbank 54_36p +1 reviewed silent c.1914 p.G638 0.995 NULL HMMPfam_TMC - no_errors FLVCR2 55640 genome.wustl.edu 36 14 75177992 75177992 + Missense_Mutation SNP A T T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 75177992 75177992 A T SNP FLVCR2 NM_017791 human genbank 54_36p +1 validated missense c.1507 p.N503Y 0.580 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors LOC727789 727789 genome.wustl.edu 36 12 75675570 75675570 + RNA SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 12 75675570 75675570 G C SNP LOC727789 XR_015128 human genbank 54_36p +1 model rna NULL NULL 0.962 - - - pseudogene NRXN3 9369 genome.wustl.edu 36 14 78339823 78339823 + Missense_Mutation SNP G A A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 78339823 78339823 G A SNP NRXN3 NM_004796 human genbank 54_36p +1 reviewed missense c.1033 p.A345T 1.000 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,HMMSmart_LamG,HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_4.1m - no_errors VPS13A 23230 genome.wustl.edu 36 9 79171486 79171486 + Silent SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 9 79171486 79171486 T C SNP VPS13A NM_033305 human genbank 54_36p +1 reviewed silent c.8349 p.S2783 0.954 NULL HMMPfam_DUF1162 - no_errors RASGRF2 5924 genome.wustl.edu 36 5 80458675 80458675 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 5 80458675 80458675 T C SNP RASGRF2 NM_006909 human genbank 54_36p +1 validated missense c.2623 p.S875P 0.991 superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMSmart_SM00229 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors KRT18P24 340460 genome.wustl.edu 36 9 80842077 80842077 + RNA SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 9 80842077 80842077 T C SNP KRT18P24 XR_016865 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene LOC648283 0 genome.wustl.edu 36 X 82891527 82891527 + RNA SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 82891527 82891527 C T SNP LOC648283 XR_038857 human genbank 54_36p -1 model rna NULL NULL 0.068 - - - pseudogene ME1 4199 genome.wustl.edu 36 6 84118517 84118517 + Silent SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 6 84118517 84118517 T C SNP ME1 NM_002395 human genbank 54_36p -1 reviewed silent c.423 p.P141 0.995 superfamily_SSF53223,HMMPfam_malic superfamily_SSF53223,HMMPfam_malic,PatternScan_MALIC_ENZYMES,HMMPfam_Malic_M,superfamily_NAD(P)-bd - no_errors LOC441505 441505 genome.wustl.edu 36 X 85227270 85227270 + RNA SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 85227270 85227270 A G SNP LOC441505 XR_016229 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene GRM3 2913 genome.wustl.edu 36 7 86254180 86254180 + Missense_Mutation SNP T T G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 86254180 86254180 T G SNP GRM3 NM_000840 human genbank 54_36p +1 reviewed missense c.1136 p.I379S 0.813 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors ABCB1 5243 genome.wustl.edu 36 7 86982552 86982552 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 86982552 86982552 G T SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed missense c.3213 p.S1071R 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran 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 GBP4 115361 genome.wustl.edu 36 1 89426935 89426935 + Missense_Mutation SNP A A G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 89426935 89426935 A G SNP GBP4 NM_052941 human genbank 54_36p -1 validated missense c.1328 p.V443A 0.803 HMMPfam_GBP_C,superfamily_GBP superfamily_SSF52540,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_GBP - no_errors LIPJ 142910 genome.wustl.edu 36 10 90346604 90346604 + Missense_Mutation SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 10 90346604 90346604 G C SNP LIPJ NM_001010939 human genbank 54_36p +1 provisional missense c.654 p.Q218H 0.000 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 - no_errors MRE11A 4361 genome.wustl.edu 36 11 93832397 93832397 + Splice_Site SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 93832397 93832397 T C SNP MRE11A NM_005591 human genbank 54_36p -1 reviewed splice_site c.1327-2 e12-2 0.993 - - - no_errors DIAPH2 1730 genome.wustl.edu 36 X 96090687 96090687 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 96090687 96090687 G T SNP DIAPH2 NM_006729 human genbank 54_36p +1 reviewed missense c.1607 p.R536L 1.000 NULL HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,HMMPfam_Drf_DAD - no_errors EML1 2009 genome.wustl.edu 36 14 99472133 99472133 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 99472133 99472133 G A SNP EML1 NM_001008707 human genbank 54_36p +1 reviewed missense c.1981 p.A661T 1.000 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_HIS_ACID_PHOSPHAT_2 HMMPfam_HELP,HMMSmart_WD40,HMMPfam_WD40,superfamily_WD40_like,PatternScan_EF_HAND_1,PatternScan_HIS_ACID_PHOSPHAT_2 - no_errors LOC339843 339843 genome.wustl.edu 36 3 99861211 99861211 + RNA SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 99861211 99861211 C A SNP LOC339843 XR_016598 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MMP3 4314 genome.wustl.edu 36 11 102219405 102219405 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 11 102219405 102219405 T C SNP MMP3 NM_002422 human genbank 54_36p -1 reviewed missense c.83 p.D28G 0.000 HMMPfam_PG_binding_1 "HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors CDCA4 55038 genome.wustl.edu 36 14 104548802 104548802 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 14 104548802 104548802 C G SNP CDCA4 NM_017955 human genbank 54_36p -1 reviewed missense c.510 p.E170D 0.243 NULL HMMPfam_SERTA - no_errors NEURL 9148 genome.wustl.edu 36 10 105320700 105320700 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 10 105320700 105320700 G T SNP NEURL NM_004210 human genbank 54_36p +1 validated missense c.167 p.G56V 0.920 NULL HMMSmart_SM00588,HMMPfam_Neuralized,superfamily_RING/U-box - no_errors C1orf162 128346 genome.wustl.edu 36 1 111821499 111821499 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 111821499 111821499 C T SNP C1orf162 NM_174896 human genbank 54_36p +1 predicted missense c.128 p.A43V 0.954 NULL NULL - no_errors ANAPC1 64682 genome.wustl.edu 36 2 112283047 112283047 + Silent SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 112283047 112283047 T C SNP ANAPC1 NM_022662 human genbank 54_36p -1 validated silent c.3780 p.V1260 0.523 HMMPfam_PC_rep HMMPfam_PC_rep - no_errors ATP11A 23250 genome.wustl.edu 36 13 112584172 112584172 + Silent SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 13 112584172 112584172 C G SNP ATP11A NM_032189 human genbank 54_36p +1 reviewed silent c.3369 p.T1123 1.000 NULL superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors STEAP3 55240 genome.wustl.edu 36 2 119721915 119721915 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 119721915 119721915 C G SNP STEAP3 NM_182915 human genbank 54_36p +1 validated missense c.713 p.A238G 0.293 NULL HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ferric_reduct - no_errors SYNPO2 171024 genome.wustl.edu 36 4 120198067 120198067 + Missense_Mutation SNP T T A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 4 120198067 120198067 T A SNP SYNPO2 NM_133477 human genbank 54_36p +1 validated missense c.3316 p.W1106R 0.491 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors SLC2A8 29988 genome.wustl.edu 36 9 129205782 129205782 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 9 129205782 129205782 G A SNP SLC2A8 NM_014580 human genbank 54_36p +1 provisional missense c.746 p.R249Q 0.997 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2 - no_errors NOC4L 79050 genome.wustl.edu 36 12 131198409 131198409 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 12 131198409 131198409 C T SNP NOC4L NM_024078 human genbank 54_36p +1 provisional missense c.635 p.T212M 0.999 NULL HMMPfam_CBF - no_errors YSK4 80122 genome.wustl.edu 36 2 135455322 135455322 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 135455322 135455322 G T SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.3459 p.N1153K 0.062 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TRIM24 8805 genome.wustl.edu 36 7 137911680 137911680 + Silent SNP A A C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 137911680 137911680 A C SNP TRIM24 NM_015905 human genbank 54_36p +1 reviewed silent c.2037 p.V679 0.983 NULL superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors TMEM22 80723 genome.wustl.edu 36 3 138056582 138056582 + Missense_Mutation SNP T T C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 138056582 138056582 T C SNP TMEM22 NM_001097599 human genbank 54_36p +1 validated missense c.590 p.M197T 1.000 HMMPfam_DUF6,superfamily_SSF103481 HMMPfam_DUF6,superfamily_SSF103481 - no_errors PCDHB19P 84054 genome.wustl.edu 36 5 140601872 140601872 + RNA SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 5 140601872 140601872 G C SNP PCDHB19P NR_001282 human genbank 54_36p +1 validated rna NULL NULL 0.991 - - - pseudogene HPS3 84343 genome.wustl.edu 36 3 150357962 150357962 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 150357962 150357962 G A SNP HPS3 NM_032383 human genbank 54_36p +1 reviewed missense c.1645 p.E549K 0.678 NULL NULL - no_errors SLC4A2 6522 genome.wustl.edu 36 7 150400111 150400111 + Silent SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 150400111 150400111 G A SNP SLC4A2 NM_003040 human genbank 54_36p +1 validated silent c.2490 p.L830 1.000 HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_2 superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2 - no_errors MLL3 58508 genome.wustl.edu 36 7 151477010 151477010 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 7 151477010 151477010 G T SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.12935 p.A4312D 0.998 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors SLC6A8 6535 genome.wustl.edu 36 X 152611767 152611767 + Silent SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 152611767 152611767 C A SNP SLC6A8 NM_005629 human genbank 54_36p +1 reviewed silent c.855 p.A285 0.040 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors PLXNA3 55558 genome.wustl.edu 36 X 153342238 153342238 + Missense_Mutation SNP A A T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 X 153342238 153342238 A T SNP PLXNA3 NM_017514 human genbank 54_36p +1 validated missense c.521 p.K174M 1.000 superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP - no_errors TRIM46 80128 genome.wustl.edu 36 1 153415013 153415013 + Missense_Mutation SNP G G T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 153415013 153415013 G T SNP TRIM46 NM_025058 human genbank 54_36p +1 validated missense c.351 p.K117N 1.000 superfamily_RING/U-box,HMMSmart_SM00184 superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors OR10T2 128360 genome.wustl.edu 36 1 156635149 156635149 + Missense_Mutation SNP A A C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 156635149 156635149 A C SNP OR10T2 NM_001004475 human genbank 54_36p -1 provisional missense c.732 p.H244Q 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ATP1A4 480 genome.wustl.edu 36 1 158403027 158403027 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 158403027 158403027 C T SNP ATP1A4 NM_144699 human genbank 54_36p +1 reviewed missense c.1133 p.T378M 1.000 superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like,HMMPfam_Hydrolase HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,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,HMMPfam_Cation_ATPase_C - no_errors KPNA4 3840 genome.wustl.edu 36 3 161715992 161715992 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 161715992 161715992 C G SNP KPNA4 NM_002268 human genbank 54_36p -1 reviewed missense c.974 p.C325S 1.000 superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors SCN1A 6323 genome.wustl.edu 36 2 166556884 166556884 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 166556884 166556884 C T SNP SCN1A NM_006920 human genbank 54_36p -1 validated missense c.5114 p.C1705Y 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P - no_errors SAMD7 344658 genome.wustl.edu 36 3 171127551 171127551 + Silent SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 171127551 171127551 C G SNP SAMD7 NM_182610 human genbank 54_36p +1 provisional silent c.807 p.T269 0.001 NULL superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors EIF4G1 1981 genome.wustl.edu 36 3 185527895 185527895 + Missense_Mutation SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 185527895 185527895 G C SNP EIF4G1 NM_182917 human genbank 54_36p +1 reviewed missense c.3626 p.S1209T 1.000 NULL superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2 - no_errors FAM171B 165215 genome.wustl.edu 36 2 187335062 187335062 + Missense_Mutation SNP C C T novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 187335062 187335062 C T SNP FAM171B NM_177454 human genbank 54_36p +1 validated missense c.1748 p.T583M 0.998 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors ATP13A5 344905 genome.wustl.edu 36 3 194525371 194525371 + Silent SNP G G C novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 3 194525371 194525371 G C SNP ATP13A5 NM_198505 human genbank 54_36p -1 provisional silent c.1650 p.L550 1.000 superfamily_SSF81665,superfamily_SSF81660 superfamily_SSF81665,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,superfamily_SSF56784 - no_errors HSPD1 3329 genome.wustl.edu 36 2 198071644 198071644 + Missense_Mutation SNP C C G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 198071644 198071644 C G SNP HSPD1 NM_002156 human genbank 54_36p -1 reviewed missense c.174 p.K58N 1.000 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029,PatternScan_CHAPERONINS_CPN60 - no_errors C2orf47 79568 genome.wustl.edu 36 2 200528772 200528772 + Silent SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 200528772 200528772 G A SNP C2orf47 NM_024520 human genbank 54_36p +1 predicted silent c.6 p.A2 1.000 NULL NULL - no_errors CR2 1380 genome.wustl.edu 36 1 205712818 205712818 + Missense_Mutation SNP C C A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 205712818 205712818 C A SNP CR2 NM_001006658 human genbank 54_36p +1 validated missense c.1649 p.T550N 0.705 superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors ACCN4 55515 genome.wustl.edu 36 2 220105096 220105096 + Splice_Site SNP T T A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 2 220105096 220105096 T A SNP ACCN4 NM_018674 human genbank 54_36p +1 reviewed splice_site c.1236+2 e3+2 1.000 - - - no_errors C1orf101 257044 genome.wustl.edu 36 1 242782642 242782642 + Missense_Mutation SNP G G A novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 242782642 242782642 G A SNP C1orf101 NM_173807 human genbank 54_36p +1 validated missense c.932 p.R311H 0.000 NULL NULL - no_errors OR2M1P 388762 genome.wustl.edu 36 1 246352132 246352132 + RNA SNP T T G novel unknown TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 271336aa-136d-4bcf-b597-60310d444925 dc6a0714-4edc-497f-a832-7d6e2414ddf1 1 246352132 246352132 T G SNP OR2M1P NR_002141 human genbank 54_36p +1 provisional rna NULL NULL 0.010 - - - pseudogene