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 ENSG00000216522 0 genome.wustl.edu 36 NT_113923 96020 96020 + Silent SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af NT_113923 96020 96020 G T SNP ENSG00000216522 ENST00000402757 human ensembl 54_36p -1 known silent c.321 p.R107 NULL HMMPfam_G_glu_transpept HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE - no_errors DLGAP2 9228 genome.wustl.edu 36 8 1501439 1501439 + Missense_Mutation SNP G A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 8 1501439 1501439 G A SNP DLGAP2 NM_004745 human genbank 54_36p +1 reviewed missense c.1174 p.G392R 0.992 NULL HMMPfam_GKAP - no_errors CSMD1 64478 genome.wustl.edu 36 8 2897530 2897530 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 8 2897530 2897530 G A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.7525 p.R2509W 0.001 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region MIRN195 0 genome.wustl.edu 36 17 6861691 6861691 + RNA SNP G C C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 17 6861691 6861691 G C SNP MIRN195 ENST00000385194 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors OR2D2 120776 genome.wustl.edu 36 11 6869835 6869835 + Missense_Mutation SNP A A C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 11 6869835 6869835 A C SNP OR2D2 NM_003700 human genbank 54_36p -1 provisional missense c.473 p.V158G 0.968 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors LOC100129476 0 genome.wustl.edu 36 1 7034085 7034085 + Silent SNP C A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 7034085 7034085 C A SNP LOC100129476 XM_001718470 human genbank 54_36p -1 model silent c.267 p.T89 0.000 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 17 7518937 7518937 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.637 p.R213* 0.380 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 DNAH2 146754 genome.wustl.edu 36 17 7563851 7563851 + Missense_Mutation SNP C T T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 17 7563851 7563851 C T SNP DNAH2 NM_020877 human genbank 54_36p +1 validated missense c.74 p.A25V 0.003 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors NRIP3 56675 genome.wustl.edu 36 11 8962017 8962017 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 11 8962017 8962017 C G SNP NRIP3 NM_020645 human genbank 54_36p -1 validated missense c.691 p.V231L 0.273 NULL HMMPfam_Asp_protease,superfamily_Pept_Aspartic - no_errors PHACTR1 221692 genome.wustl.edu 36 6 13293087 13293087 + Silent SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 6 13293087 13293087 C T SNP PHACTR1 ENST00000379345 human ensembl 54_36p +1 known silent c.466 p.L156 1.000 NULL HMMPfam_RPEL,HMMSmart_SM00707 - no_errors ITGA8 8516 genome.wustl.edu 36 10 15674234 15674234 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 10 15674234 15674234 T A SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional nonsense c.2287 p.R763* 1.000 HMMPfam_Integrin_alpha2,superfamily_SSF69179 superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors PRDM9 56979 genome.wustl.edu 36 5 23562809 23562809 + Missense_Mutation SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 5 23562809 23562809 C T SNP PRDM9 NM_020227 human genbank 54_36p +1 provisional missense c.1855 p.R619W 0.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 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 ADCY3 109 genome.wustl.edu 36 2 24898960 24898960 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 24898960 24898960 G A SNP ADCY3 NM_004036 human genbank 54_36p -1 reviewed missense c.2927 p.T976I 1.000 HMMSmart_CYCc,HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors GAD2 2572 genome.wustl.edu 36 10 26615280 26615280 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 10 26615280 26615280 G T SNP GAD2 NM_000818 human genbank 54_36p +1 reviewed nonsense c.1237 p.G413* 1.000 superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC - no_errors IL1RAPL1 11141 genome.wustl.edu 36 X 29845538 29845538 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 29845538 29845538 G C SNP IL1RAPL1 NM_014271 human genbank 54_36p +1 reviewed missense c.815 p.G272A 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors BRCA2 675 genome.wustl.edu 36 13 31848890 31848890 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 13 31848890 31848890 G T SNP BRCA2 NM_000059 human genbank 54_36p +1 reviewed nonsense c.8716 p.E2906* 1.000 superfamily_Nucleic_acid_OB,superfamily_SSF81878 HMMPfam_BRCA2,superfamily_BRCA2_helical,HMMPfam_BRCA-2_helical,superfamily_Nucleic_acid_OB,HMMPfam_BRCA-2_OB1,HMMPfam_Tower,superfamily_SSF81878,HMMPfam_BRCA-2_OB3 - no_errors DMD 1756 genome.wustl.edu 36 X 32446058 32446058 + Silent SNP T T C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 32446058 32446058 T C SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.2280 p.K760 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_t-snare proteins,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Prefoldin - no_errors SYT10 341359 genome.wustl.edu 36 12 33470374 33470374 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 12 33470374 33470374 G A SNP SYT10 NM_198992 human genbank 54_36p -1 provisional nonsense c.475 p.Q159* 1.000 NULL superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors CXorf22 170063 genome.wustl.edu 36 X 35895666 35895666 + Missense_Mutation SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 35895666 35895666 C A SNP CXorf22 NM_152632 human genbank 54_36p +1 validated missense c.1610 p.P537H 0.990 NULL NULL - no_errors LOC400750 0 genome.wustl.edu 36 1 38947662 38947662 + RNA SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 38947662 38947662 G C SNP LOC400750 XR_039444 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KLB 152831 genome.wustl.edu 36 4 39112355 39112355 + Missense_Mutation SNP G A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 4 39112355 39112355 G A SNP KLB NM_175737 human genbank 54_36p +1 validated missense c.956 p.C319Y 1.000 HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2,HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat - no_errors XIRP1 165904 genome.wustl.edu 36 3 39202284 39202284 + Silent SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 39202284 39202284 G A SNP XIRP1 NM_194293 human genbank 54_36p -1 provisional silent c.3657 p.L1219 0.834 NULL HMMPfam_Xin - no_errors CCR8 1237 genome.wustl.edu 36 3 39349809 39349809 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 39349809 39349809 G A SNP CCR8 NM_005201 human genbank 54_36p +1 reviewed missense c.983 p.R328K 0.001 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 LOC285634 285634 genome.wustl.edu 36 5 39755332 39755332 + RNA SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 5 39755332 39755332 C T SNP LOC285634 XR_017261 human genbank 54_36p -1 model rna NULL NULL 0.989 - - - pseudogene SNRK 54861 genome.wustl.edu 36 3 43364563 43364563 + Missense_Mutation SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 43364563 43364563 C A SNP SNRK NM_001100594 human genbank 54_36p +1 validated missense c.1808 p.A603D 0.076 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ATRIP 84126 genome.wustl.edu 36 3 48476769 48476769 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 48476769 48476769 G C SNP ATRIP NM_130384 human genbank 54_36p +1 reviewed missense c.1312 p.A438P 0.043 NULL NULL - no_errors SERPINE3 0 genome.wustl.edu 36 13 50816553 50816553 + Missense_Mutation SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 13 50816553 50816553 C A SNP SERPINE3 NM_001101320 human genbank 54_36p +1 validated missense c.421 p.P141T 0.388 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN - no_errors LOC441228 441228 genome.wustl.edu 36 7 56325854 56325854 + RNA SNP T T C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 7 56325854 56325854 T C SNP LOC441228 XR_016387 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors ZNF552 79818 genome.wustl.edu 36 19 63011479 63011479 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 19 63011479 63011479 C G SNP ZNF552 NM_024762 human genbank 54_36p -1 validated missense c.965 p.R322T 0.773 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors ZNF418 147686 genome.wustl.edu 36 19 63130884 63130884 + Silent SNP A T T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 19 63130884 63130884 A T SNP ZNF418 NM_133460 human genbank 54_36p -1 provisional silent c.477 p.S159 0.000 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors ATG2A 23130 genome.wustl.edu 36 11 64433751 64433751 + Silent SNP T T C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 11 64433751 64433751 T C SNP ATG2A NM_015104 human genbank 54_36p -1 provisional silent c.2085 p.E695 1.000 NULL PatternScan_OX2_COVAL_FAD,HMMPfam_ATG_C,PatternScan_ADH_ZINC - no_errors C11orf2 738 genome.wustl.edu 36 11 64634533 64634533 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 11 64634533 64634533 G C SNP C11orf2 NM_013265 human genbank 54_36p +1 provisional missense c.1882 p.G628R 1.000 NULL HMMPfam_Vps51 - no_errors PIK3R1 5295 genome.wustl.edu 36 5 67626858 67626858 + Missense_Mutation SNP C A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 5 67626858 67626858 C A SNP PIK3R1 NM_181523 human genbank 54_36p +1 reviewed missense c.1695 p.S565R 1.000 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors ZNF638 27332 genome.wustl.edu 36 2 71507210 71507210 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 71507210 71507210 C G SNP ZNF638 NM_001014972 human genbank 54_36p +1 reviewed missense c.4703 p.T1568S 0.431 NULL HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors LAT2 7462 genome.wustl.edu 36 7 73268306 73268306 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 7 73268306 73268306 C G SNP LAT2 NM_014146 human genbank 54_36p +1 reviewed missense c.65 p.A22G 0.006 NULL NULL - no_errors COQ6 51004 genome.wustl.edu 36 14 73497992 73497992 + Missense_Mutation SNP C A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 14 73497992 73497992 C A SNP COQ6 NM_182476 human genbank 54_36p +1 validated missense c.1176 p.H392Q 0.994 superfamily_SSF51905,HMMPfam_FAD_binding_3 superfamily_SSF51905,HMMPfam_FAD_binding_3,PatternScan_UBIH - no_errors ZNF592 9640 genome.wustl.edu 36 15 83142680 83142680 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 15 83142680 83142680 C T SNP ZNF592 NM_014630 human genbank 54_36p +1 validated nonsense c.2707 p.Q903* 1.000 HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors RAD54B 25788 genome.wustl.edu 36 8 95548866 95548866 + Silent SNP A G G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 8 95548866 95548866 A G SNP RAD54B NM_012415 human genbank 54_36p -1 reviewed silent c.78 p.S26 0.930 NULL superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors HIATL1 84641 genome.wustl.edu 36 9 96258365 96258365 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 9 96258365 96258365 G A SNP HIATL1 NM_032558 human genbank 54_36p +1 validated missense c.1051 p.V351M 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1 - no_errors WARS 7453 genome.wustl.edu 36 14 99879389 99879389 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 14 99879389 99879389 G T SNP WARS NM_004184 human genbank 54_36p -1 reviewed nonsense c.915 p.C305* 1.000 superfamily_Nucleotidylyl transferase superfamily_S15/NS1 RNA-binding domain,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1b - no_errors FBXL13 222235 genome.wustl.edu 36 7 102305248 102305248 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 7 102305248 102305248 G A SNP FBXL13 NM_145032 human genbank 54_36p -1 validated nonsense c.1537 p.R513* 0.995 superfamily_RNI-like,HMMSmart_SM00367 HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367 - no_errors HPS6 79803 genome.wustl.edu 36 10 103816226 103816226 + Silent SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 10 103816226 103816226 G C SNP HPS6 NM_024747 human genbank 54_36p +1 reviewed silent c.1005 p.L335 0.908 NULL NULL - no_errors C14orf79 122616 genome.wustl.edu 36 14 104528896 104528896 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 14 104528896 104528896 G T SNP C14orf79 NM_174891 human genbank 54_36p +1 validated missense c.593 p.R198I 0.988 NULL NULL - no_errors IGHG3 0 genome.wustl.edu 36 14 105307056 105307056 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 14 105307056 105307056 G A SNP IGHG3 ENST00000390550 human ensembl 54_36p -1 known missense c.793 p.P265S 0.092 superfamily_Immunoglobulin superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRMPD3 84443 genome.wustl.edu 36 X 106731963 106731963 + Silent SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 106731963 106731963 C G SNP FRMPD3 XM_042978 human genbank 54_36p +1 model silent c.4137 p.P1379 1.000 NULL PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors LAMB4 22798 genome.wustl.edu 36 7 107530722 107530722 + Missense_Mutation SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 7 107530722 107530722 C T SNP LAMB4 ENST00000388781 human ensembl 54_36p -1 known missense c.1183 p.E395K 1.000 NULL HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2 - no_errors SULT1C4 27233 genome.wustl.edu 36 2 108365311 108365311 + Missense_Mutation SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 108365311 108365311 C A SNP SULT1C4 NM_006588 human genbank 54_36p +1 reviewed missense c.334 p.L112M 0.314 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors CHRDL1 91851 genome.wustl.edu 36 X 109818575 109818575 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 109818575 109818575 C G SNP CHRDL1 NM_145234 human genbank 54_36p -1 reviewed missense c.888 p.E296D 1.000 superfamily_Fibronectin type I module,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 superfamily_Fibronectin type I module,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 - no_errors PHLDB2 90102 genome.wustl.edu 36 3 113171279 113171279 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 113171279 113171279 G A SNP PHLDB2 NM_145753 human genbank 54_36p +1 validated missense c.3239 p.R1080Q 1.000 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors LRCH2 57631 genome.wustl.edu 36 X 114311135 114311135 + Silent SNP T T C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 114311135 114311135 T C SNP LRCH2 NM_020871 human genbank 54_36p -1 validated silent c.981 p.S327 0.941 NULL superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH - no_errors CASQ2 845 genome.wustl.edu 36 1 116084931 116084931 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 116084931 116084931 G T SNP CASQ2 NM_001232 human genbank 54_36p -1 reviewed missense c.361 p.R121S 1.000 HMMPfam_Calsequestrin,superfamily_Thioredoxin-like HMMPfam_Calsequestrin,PatternScan_CALSEQUESTRIN_1,superfamily_Thioredoxin-like,PatternScan_CALSEQUESTRIN_2 - no_errors TMPRSS4 56649 genome.wustl.edu 36 11 117489215 117489215 + Missense_Mutation SNP C C G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 11 117489215 117489215 C G SNP TMPRSS4 NM_019894 human genbank 54_36p +1 reviewed missense c.765 p.N255K 0.997 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_Ldl_recept_a,superfamily_SRCR-like,HMMSmart_SM00202,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors RALB 5899 genome.wustl.edu 36 2 120763675 120763675 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 120763675 120763675 G T SNP RALB NM_002881 human genbank 54_36p +1 reviewed missense c.373 p.V125F 0.243 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 LOC100129707 0 genome.wustl.edu 36 3 121230524 121230524 + RNA SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 121230524 121230524 G C SNP LOC100129707 XR_038954 human genbank 54_36p +1 model rna NULL NULL 0.991 - - - pseudogene LRRC43 254050 genome.wustl.edu 36 12 121240785 121240785 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 12 121240785 121240785 G A SNP LRRC43 NM_001098519 human genbank 54_36p +1 validated missense c.818 p.S273N 1.000 superfamily_Outer arm dynein light chain 1 superfamily_Outer arm dynein light chain 1 - no_errors FAT4 79633 genome.wustl.edu 36 4 126591589 126591589 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 4 126591589 126591589 G C SNP FAT4 NM_024582 human genbank 54_36p +1 validated missense c.9968 p.S3323T 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors MAP3K2 10746 genome.wustl.edu 36 2 127796121 127796121 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 127796121 127796121 G T SNP MAP3K2 NM_006609 human genbank 54_36p -1 reviewed missense c.1016 p.T339N 1.000 NULL HMMPfam_PB1,HMMSmart_SM00666,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors ACTBL3 0 genome.wustl.edu 36 2 132101201 132101201 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 132101201 132101201 G A SNP ACTBL3 ENST00000329081 human ensembl 54_36p +1 known nonsense c.1020 p.W340* 1.000 HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors PCDHGB1 56104 genome.wustl.edu 36 5 140711497 140711497 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 5 140711497 140711497 G C SNP PCDHGB1 NM_018922 human genbank 54_36p +1 reviewed missense c.1486 p.E496Q 0.634 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors MIRN513B 0 genome.wustl.edu 36 X 146088316 146088316 + RNA SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 146088316 146088316 C A SNP MIRN513B ENST00000385136 human ensembl 54_36p -1 known rna NULL NULL 0.256 - - - no_errors THEM5 284486 genome.wustl.edu 36 1 150091395 150091395 + Silent SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 150091395 150091395 C A SNP THEM5 NM_182578 human genbank 54_36p -1 validated silent c.288 p.R96 0.900 NULL superfamily_SSF54637,HMMPfam_4HBT - no_errors LCE1F 353137 genome.wustl.edu 36 1 151015661 151015661 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 151015661 151015661 G T SNP LCE1F NM_178354 human genbank 54_36p +1 validated missense c.190 p.G64C 0.019 NULL NULL - no_errors NPR1 4881 genome.wustl.edu 36 1 151925827 151925827 + Missense_Mutation SNP T T C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 151925827 151925827 T C SNP NPR1 NM_000906 human genbank 54_36p +1 validated missense c.1840 p.Y614H 1.000 HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_ANF_RECEPTORS,HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors SUCNR1 56670 genome.wustl.edu 36 3 153081867 153081867 + Silent SNP T T G novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 153081867 153081867 T G SNP SUCNR1 NM_033050 human genbank 54_36p +1 provisional silent c.846 p.P282 0.008 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FCGR2C 9103 genome.wustl.edu 36 1 159836058 159836058 + Missense_Mutation SNP A A T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 159836058 159836058 A T SNP FCGR2C NM_201563 human genbank 54_36p +1 provisional missense c.813 p.Q271H 0.097 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - pseudogene PLG 5340 genome.wustl.edu 36 6 161059765 161059765 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 6 161059765 161059765 G A SNP PLG NM_000301 human genbank 54_36p +1 validated nonsense c.1001 p.W334* 1.000 HMMSmart_KR,superfamily_Kringle-like,HMMPfam_Kringle,PatternScan_KRINGLE_1 HMMPfam_PAN_1,superfamily_SSF57414,HMMSmart_PAN_AP,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors LAMC2 3918 genome.wustl.edu 36 1 181462454 181462454 + Splice_Site SNP A A C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 181462454 181462454 A C SNP LAMC2 NM_005562 human genbank 54_36p +1 reviewed splice_site c.1067-2 e9-2 1.000 - - - no_errors SSFA2 6744 genome.wustl.edu 36 2 182486843 182486843 + Missense_Mutation SNP C C A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 182486843 182486843 C A SNP SSFA2 NM_006751 human genbank 54_36p +1 validated missense c.1513 p.H505N 1.000 NULL NULL - no_errors EHHADH 1962 genome.wustl.edu 36 3 186393302 186393302 + Silent SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 186393302 186393302 C T SNP EHHADH NM_001966 human genbank 54_36p -1 validated silent c.1578 p.G526 1.000 superfamily_6DGDH_C_like,HMMPfam_3HCDH superfamily_SSF52096,HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_NAD(P)-bd,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,HMMPfam_3HCDH - no_errors LIPH 200879 genome.wustl.edu 36 3 186735549 186735549 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 3 186735549 186735549 G C SNP LIPH NM_139248 human genbank 54_36p -1 reviewed missense c.115 p.L39V 0.980 superfamily_SSF53474,HMMPfam_Lipase PatternScan_LIPASE_SER,superfamily_SSF53474,HMMPfam_Lipase - no_errors MFSD6 54842 genome.wustl.edu 36 2 191010137 191010137 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 191010137 191010137 G T SNP MFSD6 NM_017694 human genbank 54_36p +1 validated missense c.1137 p.M379I 1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors FAM119A 151194 genome.wustl.edu 36 2 208186191 208186191 + Missense_Mutation SNP G G C novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 208186191 208186191 G C SNP FAM119A NM_145280 human genbank 54_36p -1 validated missense c.481 p.H161D 0.975 HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors FN1 2335 genome.wustl.edu 36 2 215935033 215935033 + Missense_Mutation SNP G G T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 2 215935033 215935033 G T SNP FN1 NM_212482 human genbank 54_36p -1 reviewed missense c.7266 p.D2422E 1.000 superfamily_Fibronectin type I module,HMMSmart_SM00058 superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors LOC643779 643779 genome.wustl.edu 36 1 218557406 218557406 + RNA SNP C C T novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 218557406 218557406 C T SNP LOC643779 XR_016941 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene OR2W5 441932 genome.wustl.edu 36 1 245721950 245721950 + Missense_Mutation SNP G G A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 245721950 245721950 G A SNP OR2W5 NM_001004698 human genbank 54_36p +1 provisional missense c.898 p.D300N 0.440 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors LOC441481 0 genome.wustl.edu 36 X 13306554 13306555 + RNA INS - - TTT novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af X 13306554 13306555 - TTT INS LOC441481 XR_038530 human genbank 54_36p -1 model rna NULL NULL 0.002:0.003 - - - pseudogene MSTP9 11223 genome.wustl.edu 36 1 16957317 16957317 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 16957317 16957317 G - DEL MSTP9 ENST00000389184 human ensembl 54_36p -1 known frame_shift_del c.1480 p.R494fs 1.000 superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin HMMPfam_PAN_1,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin (deletion:cds_exon[16957298,16957375]) no_stop_codon XPO4 64328 genome.wustl.edu 36 13 20299226 20299227 + Frame_Shift_Del DEL CT CT - novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 13 20299226 20299227 CT - DEL XPO4 NM_022459 human genbank 54_36p -1 validated frame_shift_del c.820_819 p.R273fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold (deletion:cds_exon[20299206,20299318]) no_errors L1TD1 54596 genome.wustl.edu 36 1 62448445 62448453 + In_Frame_Del DEL GACTCTGTA GACTCTGTA - novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 GACTCTGTA GACTCTGTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 62448445 62448453 GACTCTGTA - DEL L1TD1 NM_019079 human genbank 54_36p +1 validated in_frame_del c.1411_1419 p.DSV471in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.001 NULL HMMPfam_Transposase_22 (deletion:cds_exon[62448043,62449632]) no_errors OBSCN 84033 genome.wustl.edu 36 1 226526311 226526312 + Frame_Shift_Ins INS - - A novel unknown TCGA-29-1762-01A-01W-0633-09 TCGA-29-1762-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a0f76764-35a0-43d3-aeb4-70e9a37830e8 39d64d91-ce06-4d19-a16b-f02329a5b4af 1 226526311 226526312 - A INS OBSCN ENST00000359599 human ensembl 54_36p +1 known frame_shift_ins c.5476_5477 p.V1827fs 0.866:0.958 superfamily_SSF48726,HMMSmart_IG superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_stop_codon