Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error MT-ND3 4537 genome.wustl.edu 36 MT 10072 10072 + Silent SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 MT 10072 10072 T C SNP MT-ND3 ENST00000361227 human ensembl 54_36p +1 known silent c.13 p.L5 NULL NULL HMMPfam_Oxidored_q4 - no_stop_codon:bad_bp_length_for_coding_region MT-ND4 4538 genome.wustl.edu 36 MT 11788 11788 + Missense_Mutation SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 MT 11788 11788 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.1028 p.I343T NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region MIER2 54531 genome.wustl.edu 36 19 285516 285516 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 19 285516 285516 G A SNP MIER2 NM_017550 human genbank 54_36p -1 provisional nonsense c.127 p.Q43* 1.000 NULL HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors VPS53 55275 genome.wustl.edu 36 17 505905 505905 + Silent SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 505905 505905 G A SNP VPS53 NM_018289 human genbank 54_36p -1 reviewed silent c.324 p.H108 0.996 HMMPfam_Vps53_N HMMPfam_Vps53_N - no_errors MUC5B 727897 genome.wustl.edu 36 11 1222407 1222407 + Missense_Mutation SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 1222407 1222407 T C SNP MUC5B NM_002458 human genbank 54_36p +1 validated missense c.7730 p.V2577A 0.000 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1 - no_errors CLPTM1L 81037 genome.wustl.edu 36 5 1388185 1388185 + Silent SNP G A A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 5 1388185 1388185 G A SNP CLPTM1L NM_030782 human genbank 54_36p -1 provisional silent c.783 p.S261 0.997 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors LOC100134144 0 genome.wustl.edu 36 17 1861642 1861642 + Missense_Mutation SNP C T T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 1861642 1861642 C T SNP LOC100134144 XM_001717999 human genbank 54_36p -1 model missense c.6719 p.R2240H 0.024 NULL NULL - no_start_codon:pseudogene:no_stop_codon LOC387825 387825 genome.wustl.edu 36 12 3051467 3051467 + RNA SNP G A A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 3051467 3051467 G A SNP LOC387825 XR_016298 human genbank 54_36p -1 model rna NULL NULL 0.973 - - - pseudogene NOP2 4839 genome.wustl.edu 36 12 6536883 6536883 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 6536883 6536883 G T SNP NOP2 NM_001033714 human genbank 54_36p -1 validated nonsense c.1964 p.S655* 0.102 NULL superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R - no_errors ACRBP 84519 genome.wustl.edu 36 12 6619523 6619523 + Silent SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 6619523 6619523 C T SNP ACRBP NM_032489 human genbank 54_36p -1 reviewed silent c.1389 p.E463 0.980 superfamily_SSF100895 HMMPfam_PBP_sp32,superfamily_SSF100895,HMMSmart_KAZAL - no_errors ACAP1 9744 genome.wustl.edu 36 17 7191085 7191085 + Silent SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 7191085 7191085 C T SNP ACAP1 NM_014716 human genbank 54_36p +1 validated silent c.1143 p.H381 0.091 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors TP53 7157 genome.wustl.edu 36 17 7518997 7518997 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 7518997 7518997 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.577 p.H193Y 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 USP6NL 9712 genome.wustl.edu 36 10 11545534 11545534 + Missense_Mutation SNP C C A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 10 11545534 11545534 C A SNP USP6NL NM_001080491 human genbank 54_36p -1 validated missense c.1450 p.A484S 0.988 NULL superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 - no_errors GREB1 9687 genome.wustl.edu 36 2 11678484 11678484 + Silent SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 2 11678484 11678484 C T SNP GREB1 NM_014668 human genbank 54_36p +1 reviewed silent c.4047 p.I1349 0.987 NULL NULL - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18681237 18681237 + Missense_Mutation SNP C G G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 18681237 18681237 C G SNP KLHDC7A NM_152375 human genbank 54_36p +1 validated missense c.1175 p.P392R 0.001 NULL superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch - no_errors RAB36 9609 genome.wustl.edu 36 22 21825234 21825234 + Missense_Mutation SNP T T G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 22 21825234 21825234 T G SNP RAB36 NM_004914 human genbank 54_36p +1 validated missense c.440 p.V147G 0.984 HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176 HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors DSG4 147409 genome.wustl.edu 36 18 27222879 27222879 + Missense_Mutation SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 18 27222879 27222879 G T SNP DSG4 NM_177986 human genbank 54_36p +1 validated missense c.417 p.R139S 0.733 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors KIAA0556 23247 genome.wustl.edu 36 16 27696535 27696535 + Missense_Mutation SNP C C A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 16 27696535 27696535 C A SNP KIAA0556 NM_015202 human genbank 54_36p +1 validated missense c.4655 p.T1552N 1.000 NULL superfamily_Galactose-binding domain-like,PatternScan_AKH - no_errors IL1RAPL1 11141 genome.wustl.edu 36 X 29848124 29848124 + Missense_Mutation SNP A A C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 X 29848124 29848124 A C SNP IL1RAPL1 NM_014271 human genbank 54_36p +1 reviewed missense c.1049 p.H350P 0.995 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors MSH5 4439 genome.wustl.edu 36 6 31835929 31835929 + Missense_Mutation SNP T T A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 6 31835929 31835929 T A SNP MSH5 NM_025259 human genbank 54_36p +1 reviewed missense c.1820 p.I607N 1.000 HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors BAZ1A 11177 genome.wustl.edu 36 14 34297727 34297727 + Silent SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 14 34297727 34297727 T C SNP BAZ1A NM_013448 human genbank 54_36p -1 validated silent c.4320 p.Q1440 0.997 superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain HMMPfam_WAC_Acf1_DNA_bd,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors RAPGEFL1 51195 genome.wustl.edu 36 17 35598744 35598744 + Missense_Mutation SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 35598744 35598744 G T SNP RAPGEFL1 NM_016339 human genbank 54_36p +1 validated missense c.316 p.G106C 1.000 superfamily_Ras_GEF superfamily_Ras_GEF,HMMPfam_RA,HMMSmart_RasGEF,HMMPfam_RasGEF - no_errors COMMD9 29099 genome.wustl.edu 36 11 36252898 36252898 + Missense_Mutation SNP T T G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 36252898 36252898 T G SNP COMMD9 NM_014186 human genbank 54_36p -1 validated missense c.457 p.I153L 1.000 HMMPfam_HCaRG HMMPfam_HCaRG - no_errors HSPB9 94086 genome.wustl.edu 36 17 37528853 37528853 + Silent SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 37528853 37528853 G A SNP HSPB9 NM_033194 human genbank 54_36p +1 provisional silent c.459 p.K153 0.000 NULL superfamily_HSP20-like chaperones,HMMPfam_HSP20 - no_errors PAK6 56924 genome.wustl.edu 36 15 38355425 38355425 + Silent SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 15 38355425 38355425 C T SNP PAK6 NM_020168 human genbank 54_36p +1 reviewed silent c.1884 p.S628 0.999 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors KIAA0754 643314 genome.wustl.edu 36 1 39648960 39648960 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 39648960 39648960 G A SNP KIAA0754 NM_015038 human genbank 54_36p +1 predicted missense c.436 p.E146K 1.000 NULL NULL - no_errors ENSG00000222708 0 genome.wustl.edu 36 1 41043303 41043303 + RNA SNP C T T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 41043303 41043303 C T SNP ENSG00000222708 ENST00000410776 human ensembl 54_36p +1 novel rna NULL NULL 0.999 - - - no_errors TBRG4 9238 genome.wustl.edu 36 7 45111776 45111776 + Missense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 7 45111776 45111776 C T SNP TBRG4 NM_004749 human genbank 54_36p -1 validated missense c.524 p.R175H 0.993 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors C11orf49 79096 genome.wustl.edu 36 11 46914949 46914949 + Missense_Mutation SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 46914949 46914949 G T SNP C11orf49 NM_001003677 human genbank 54_36p +1 validated missense c.17 p.R6L 1.000 NULL NULL - no_errors ERCC6 2074 genome.wustl.edu 36 10 50371248 50371248 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 10 50371248 50371248 C T SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed nonsense c.1742 p.W581* 1.000 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors KRT3 3850 genome.wustl.edu 36 12 51475713 51475713 + Silent SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 51475713 51475713 C T SNP KRT3 NM_057088 human genbank 54_36p -1 reviewed silent c.381 p.G127 0.000 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors SCAF1 58506 genome.wustl.edu 36 19 54846157 54846157 + Silent SNP C C A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 19 54846157 54846157 C A SNP SCAF1 NM_021228 human genbank 54_36p +1 provisional silent c.699 p.P233 1.000 NULL NULL - no_errors SIGLEC7 27036 genome.wustl.edu 36 19 56340976 56340976 + Silent SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 19 56340976 56340976 T C SNP SIGLEC7 NM_014385 human genbank 54_36p +1 validated silent c.813 p.S271 0.166 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig - no_errors SLMAP 7871 genome.wustl.edu 36 3 57822730 57822730 + Missense_Mutation SNP T T A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 57822730 57822730 T A SNP SLMAP NM_007159 human genbank 54_36p +1 validated missense c.843 p.N281K 1.000 NULL superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA,HMMPfam_Prefoldin_2,PatternScan_FETUIN_2 - no_errors FLNB 2317 genome.wustl.edu 36 3 57969549 57969549 + Missense_Mutation SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 57969549 57969549 G T SNP FLNB NM_001457 human genbank 54_36p +1 validated missense c.218 p.R73L 1.000 superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN - no_errors SPTBN2 6712 genome.wustl.edu 36 11 66212235 66212235 + Missense_Mutation SNP A A T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 66212235 66212235 A T SNP SPTBN2 NM_006946 human genbank 54_36p -1 validated missense c.6355 p.S2119T 0.000 HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors C17orf54 283982 genome.wustl.edu 36 17 69331455 69331455 + Silent SNP G C C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 69331455 69331455 G C SNP C17orf54 ENST00000321800 human ensembl 54_36p -1 known silent c.108 p.L36 0.000 NULL NULL - no_errors SMOC1 64093 genome.wustl.edu 36 14 69489910 69489910 + Missense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 14 69489910 69489910 C T SNP SMOC1 NM_001034852 human genbank 54_36p +1 validated missense c.286 p.R96C 1.000 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1 superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_EF-hand,PatternScan_EF_HAND_1 - no_errors GGA3 23163 genome.wustl.edu 36 17 70751241 70751241 + Silent SNP C C A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 17 70751241 70751241 C A SNP GGA3 NM_138619 human genbank 54_36p -1 reviewed silent c.306 p.L102 1.000 HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809 - no_errors NUMA1 4926 genome.wustl.edu 36 11 71401906 71401906 + Missense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 71401906 71401906 C T SNP NUMA1 NM_006185 human genbank 54_36p -1 validated missense c.4291 p.A1431T 0.981 NULL superfamily_Prefoldin - no_errors XIST 7503 genome.wustl.edu 36 X 72979737 72979737 + RNA SNP G G T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 X 72979737 72979737 G T SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.007 - - - no_errors CYB5R4 51167 genome.wustl.edu 36 6 84702682 84702682 + Missense_Mutation SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 6 84702682 84702682 T C SNP CYB5R4 NM_016230 human genbank 54_36p +1 validated missense c.976 p.Y326H 1.000 superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_6 superfamily_Cyt_B5,HMMPfam_Cyt-b5,PatternScan_CYTOCHROME_B5_1,superfamily_HSP20_chap,HMMPfam_CS,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_6,superfamily_SSF52343,HMMPfam_NAD_binding_1 - no_errors LDB3 11155 genome.wustl.edu 36 10 88436876 88436876 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 10 88436876 88436876 G A SNP LDB3 NM_001080114 human genbank 54_36p +1 reviewed missense c.415 p.E139K 1.000 NULL HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMSmart_ZM,superfamily_SSF57716,HMMSmart_LIM,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1 - no_errors FGD6 55785 genome.wustl.edu 36 12 94009713 94009713 + Missense_Mutation SNP C C G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 94009713 94009713 C G SNP FGD6 NM_018351 human genbank 54_36p -1 validated missense c.3751 p.V1251L 1.000 HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1 - no_errors CLMN 79789 genome.wustl.edu 36 14 94739346 94739346 + Missense_Mutation SNP T T A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 14 94739346 94739346 T A SNP CLMN NM_024734 human genbank 54_36p -1 validated missense c.2093 p.E698V 0.661 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2 - no_errors EMID2 136227 genome.wustl.edu 36 7 100975430 100975430 + Silent SNP C G G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 7 100975430 100975430 C G SNP EMID2 ENST00000397927 human ensembl 54_36p +1 known silent c.795 p.G265 0.692 NULL HMMPfam_EMI,HMMPfam_Collagen - no_errors ISCU 23479 genome.wustl.edu 36 12 107483326 107483326 + Missense_Mutation SNP A A C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 12 107483326 107483326 A C SNP ISCU NM_014301 human genbank 54_36p +1 reviewed missense c.254 p.K85T 1.000 superfamily_SSF82649,HMMPfam_NifU_N superfamily_SSF82649,HMMPfam_NifU_N - no_errors RGPD4 285190 genome.wustl.edu 36 2 107844625 107844625 + Silent SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 2 107844625 107844625 G A SNP RGPD4 ENST00000354986 human ensembl 54_36p +1 known silent c.2202 p.K734 0.975 NULL superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_SM00755 - no_errors DCX 1641 genome.wustl.edu 36 X 110540060 110540060 + Missense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 X 110540060 110540060 C T SNP DCX NM_000555 human genbank 54_36p -1 reviewed missense c.466 p.D156N 1.000 superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX - no_errors LOC389141 389141 genome.wustl.edu 36 3 111883964 111883964 + RNA SNP A A G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 111883964 111883964 A G SNP LOC389141 XR_016945 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TFDP1 7027 genome.wustl.edu 36 13 113336337 113336337 + Silent SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 13 113336337 113336337 T C SNP TFDP1 NM_007111 human genbank 54_36p +1 reviewed silent c.606 p.C202 0.999 HMMPfam_DP HMMPfam_E2F_TDP,superfamily_SSF46785,HMMPfam_DP - no_errors PTGS1 5742 genome.wustl.edu 36 9 124194589 124194589 + Missense_Mutation SNP C C T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 9 124194589 124194589 C T SNP PTGS1 NM_000962 human genbank 54_36p +1 reviewed missense c.1745 p.P582L 0.992 superfamily_Heme-dependent peroxidases superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase - no_errors OR1L4 254973 genome.wustl.edu 36 9 124526295 124526295 + Missense_Mutation SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 9 124526295 124526295 T C SNP OR1L4 NM_001005235 human genbank 54_36p +1 provisional missense c.206 p.F69S 0.250 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors SAP130 79595 genome.wustl.edu 36 2 128416062 128416062 + Missense_Mutation SNP C C G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 2 128416062 128416062 C G SNP SAP130 NM_024545 human genbank 54_36p -1 validated missense c.3135 p.K1045N 0.992 NULL NULL - no_errors ZNF79 7633 genome.wustl.edu 36 9 129246411 129246411 + Missense_Mutation SNP A A G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 9 129246411 129246411 A G SNP ZNF79 NM_007135 human genbank 54_36p +1 validated missense c.611 p.Y204C 0.008 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C9orf114 51490 genome.wustl.edu 36 9 130629261 130629261 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 9 130629261 130629261 G A SNP C9orf114 NM_016390 human genbank 54_36p -1 validated missense c.239 p.P80L 0.999 superfamily_SSF75217,HMMPfam_DUF171 superfamily_SSF75217,HMMPfam_DUF171,superfamily_Nucleic_acid_OB - no_errors uc003vxc.2 0 genome.wustl.edu 36 7 141598568 141598568 + Missense_Mutation SNP T T A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 7 141598568 141598568 T A SNP uc003vxc.2 ENST00000304182 human ensembl 54_36p -1 known missense c.677 p.K226I 0.536 superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS - no_errors GK5 256356 genome.wustl.edu 36 3 143400445 143400445 + Silent SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 143400445 143400445 T C SNP GK5 NM_001039547 human genbank 54_36p -1 validated silent c.432 p.R144 0.033 superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N superfamily_Actin-like ATPase domain,HMMPfam_FGGY_N,HMMPfam_FGGY_C,PatternScan_FGGY_KINASES_2 - no_errors CP 1356 genome.wustl.edu 36 3 150409690 150409690 + Missense_Mutation SNP T T C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 150409690 150409690 T C SNP CP NM_000096 human genbank 54_36p -1 reviewed missense c.779 p.Y260C 1.000 superfamily_Cupredoxins,HMMPfam_Cu-oxidase superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2 - no_errors PNCK 139728 genome.wustl.edu 36 X 152591429 152591429 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 X 152591429 152591429 G A SNP PNCK ENST00000393831 human ensembl 54_36p -1 known missense c.73 p.P25S 0.004 superfamily_Protein kinase-like (PK-like) superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST - no_errors RPL22L1 200916 genome.wustl.edu 36 3 172070644 172070644 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 172070644 172070644 G A SNP RPL22L1 NM_001099645 human genbank 54_36p -1 validated missense c.7 p.P3S 1.000 NULL HMMPfam_Ribosomal_L22e - no_errors LOC131054 131054 genome.wustl.edu 36 3 181439734 181439734 + RNA SNP A C C novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 181439734 181439734 A C SNP LOC131054 XR_017452 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene USH2A 7399 genome.wustl.edu 36 1 213868952 213868952 + Missense_Mutation SNP G G A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 213868952 213868952 G A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.15346 p.R5116C 0.710 NULL superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors CCDC108 255101 genome.wustl.edu 36 2 219608517 219608517 + Missense_Mutation SNP C C A novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 2 219608517 219608517 C A SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional missense c.471 p.E157D 0.440 NULL PatternScan_MGMT,superfamily_PapD-like - no_errors PSEN2 5664 genome.wustl.edu 36 1 225143349 225143349 + Missense_Mutation SNP A A T novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 225143349 225143349 A T SNP PSEN2 NM_000447 human genbank 54_36p +1 reviewed missense c.763 p.I255F 1.000 HMMPfam_Presenilin,HMMSmart_SM00730 HMMPfam_Presenilin,HMMSmart_SM00730 - no_errors RGS7 6000 genome.wustl.edu 36 1 239043628 239043628 + Missense_Mutation SNP T T G novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 239043628 239043628 T G SNP RGS7 NM_002924 human genbank 54_36p -1 validated missense c.869 p.Y290S 0.998 superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS - no_errors COPB1 1315 genome.wustl.edu 36 11 14457810 14457812 + In_Frame_Del DEL GTT GTT - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 GTT GTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 14457810 14457812 GTT - DEL COPB1 NM_016451 human genbank 54_36p -1 reviewed in_frame_del c.1239_1237 p.N413in_frame_del 1.000:1.000:1.000 HMMPfam_Adaptin_N,superfamily_ARM-type_fold HMMPfam_Adaptin_N,superfamily_ARM-type_fold,HMMPfam_Coatamer_beta_C (deletion:cds_exon[14457691,14457836]) no_errors LOC391322 391322 genome.wustl.edu 36 22 22703826 22703829 + Frame_Shift_Del DEL CAAT CAAT - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 CAAT CAAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 22 22703826 22703829 CAAT - DEL LOC391322 XM_001726974 human genbank 54_36p +1 model frame_shift_del c.364_367 p.E124fs 0.005:0.010:0.011:0.013 NULL HMMPfam_MIF,superfamily_Tautomerase/MIF,PatternScan_MIF (deletion:cds_exon[22703610,22703873]) no_errors RNASEH2B 79621 genome.wustl.edu 36 13 50417634 50417640 + Frame_Shift_Del DEL TTTTCTC TTTTCTC - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 TTTTCTC TTTTCTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 13 50417634 50417640 TTTTCTC - DEL RNASEH2B NM_024570 human genbank 54_36p +1 reviewed frame_shift_del c.581_587 p.F194fs 0.995:0.994:0.994:0.991:0.982:0.952:0.498 HMMPfam_RNase_H2-Ydr279 HMMPfam_RNase_H2-Ydr279 (deletion:cds_exon[50417564,50417669]) no_errors NISCH 11188 genome.wustl.edu 36 3 52500987 52500989 + In_Frame_Del DEL GAG GAG - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 GAG GAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 3 52500987 52500989 GAG - DEL NISCH NM_007184 human genbank 54_36p +1 validated in_frame_del c.3964_3966 p.E1324in_frame_del 1.000:1.000:0.996 NULL superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1,PatternScan_CYTOCHROME_P450 (deletion:cds_exon[52500928,52501538]) no_errors C2CD3 26005 genome.wustl.edu 36 11 73473628 73473629 + Frame_Shift_Del DEL AC AC - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 AC AC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 73473628 73473629 AC - DEL C2CD3 NM_015531 human genbank 54_36p -1 validated frame_shift_del c.3946_3945 p.Y1316fs 0.925:0.465 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239 HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 (deletion:cds_exon[73473574,73473663]) no_errors C2CD3 26005 genome.wustl.edu 36 11 73473632 73473632 + Frame_Shift_Del DEL T T - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 11 73473632 73473632 T - DEL C2CD3 NM_015531 human genbank 54_36p -1 validated frame_shift_del c.3942 p.E1315fs 0.480 HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) (deletion:cds_exon[73473574,73473663]) no_errors KCNN3 3782 genome.wustl.edu 36 1 153108824 153108826 + In_Frame_Del DEL GCT GCT - novel unknown TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 GCT GCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13d549f0-e884-484c-9c42-0e030a751d83 7066096f-fff7-4e26-822c-93b3c5d7e795 1 153108824 153108826 GCT - DEL KCNN3 NM_002249 human genbank 54_36p -1 reviewed in_frame_del c.241_239 p.Q80in_frame_del 0.997:0.989:0.980 NULL HMMPfam_SK_channel,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_Small-conductance potassium channel,HMMPfam_CaMBD (deletion:cds_exon[153108132,153109064]) no_errors