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-ND4 4538 genome.wustl.edu 36 MT 11779 11779 + Missense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 MT 11779 11779 G A SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.1019 p.R340H NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region FASTKD5 60493 genome.wustl.edu 36 20 3075461 3075461 + Silent SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 20 3075461 3075461 C T SNP FASTKD5 NM_021826 human genbank 54_36p -1 validated silent c.2256 p.L752 0.989 HMMPfam_RAP HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors A2BP1 54715 genome.wustl.edu 36 16 7508220 7508220 + Missense_Mutation SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 16 7508220 7508220 C T SNP A2BP1 NM_145891 human genbank 54_36p +1 reviewed missense c.158 p.P53L 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517743 7517743 + Splice_Site SNP C C G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 17 7517743 7517743 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.919+1 e7+1 1.000 - - - no_errors S1PR2 9294 genome.wustl.edu 36 19 10196250 10196250 + Missense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 19 10196250 10196250 G A SNP S1PR2 NM_004230 human genbank 54_36p -1 validated missense c.332 p.S111F 0.990 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors USP47 55031 genome.wustl.edu 36 11 11880982 11880982 + Missense_Mutation SNP G G T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 11 11880982 11880982 G T SNP USP47 NM_017944 human genbank 54_36p +1 validated missense c.534 p.E178D 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors ESF1 51575 genome.wustl.edu 36 20 13711271 13711271 + Missense_Mutation SNP A A C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 20 13711271 13711271 A C SNP ESF1 NM_016649 human genbank 54_36p -1 provisional missense c.516 p.I172M 0.000 NULL NULL - no_errors CROCC 9696 genome.wustl.edu 36 1 17147924 17147924 + Missense_Mutation SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 1 17147924 17147924 C T SNP CROCC NM_014675 human genbank 54_36p +1 validated missense c.2752 p.R918W 1.000 NULL superfamily_Prefoldin - no_errors TMEM161A 54929 genome.wustl.edu 36 19 19105003 19105003 + Missense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 19 19105003 19105003 G A SNP TMEM161A NM_017814 human genbank 54_36p -1 provisional missense c.124 p.H42Y 1.000 HMMPfam_Tmemb_161AB HMMPfam_Tmemb_161AB - no_errors APOB 338 genome.wustl.edu 36 2 21083461 21083461 + Missense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 21083461 21083461 G A SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.9784 p.P3262S 1.000 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors CYTSA 23384 genome.wustl.edu 36 22 23028170 23028170 + Missense_Mutation SNP T T G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 22 23028170 23028170 T G SNP CYTSA ENST00000398280 human ensembl 54_36p +1 known missense c.7 p.C3G 0.999 NULL NULL - no_start_codon OSBPL3 26031 genome.wustl.edu 36 7 24858719 24858719 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 7 24858719 24858719 G A SNP OSBPL3 NM_015550 human genbank 54_36p -1 reviewed nonsense c.1087 p.Q363* 1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Oxysterol_BP,PatternScan_OSBP - no_errors POM121L2 94026 genome.wustl.edu 36 6 27385225 27385225 + Missense_Mutation SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 6 27385225 27385225 C T SNP POM121L2 ENST00000377451 human ensembl 54_36p -1 known missense c.2512 p.E838K 0.003 NULL NULL - no_errors DHX35 60625 genome.wustl.edu 36 20 37087406 37087406 + Silent SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 20 37087406 37087406 G A SNP DHX35 NM_021931 human genbank 54_36p +1 reviewed silent c.1791 p.K597 0.926 HMMPfam_DUF1605 HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors TSC22D1 8848 genome.wustl.edu 36 13 44045918 44045918 + Missense_Mutation SNP C C A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 13 44045918 44045918 C A SNP TSC22D1 NM_183422 human genbank 54_36p -1 validated missense c.2293 p.V765F 0.997 NULL PatternScan_TSC22,HMMPfam_TSC22 - no_errors IPO13 9670 genome.wustl.edu 36 1 44196726 44196726 + Missense_Mutation SNP C C G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 1 44196726 44196726 C G SNP IPO13 NM_014652 human genbank 54_36p +1 reviewed missense c.1756 p.Q586E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1 - no_errors BCAS1 8537 genome.wustl.edu 36 20 52078463 52078463 + Missense_Mutation SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 20 52078463 52078463 G C SNP BCAS1 NM_003657 human genbank 54_36p -1 reviewed missense c.598 p.L200V 1.000 NULL NULL - no_errors FBXO9 26268 genome.wustl.edu 36 6 53065529 53065529 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 6 53065529 53065529 G T SNP FBXO9 ENST00000244426 human ensembl 54_36p +1 known nonsense c.841 p.E281* 1.000 superfamily_F-box domain superfamily_F-box domain,HMMPfam_F-box - no_errors MED13 9969 genome.wustl.edu 36 17 57416496 57416496 + Silent SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 17 57416496 57416496 G C SNP MED13 NM_005121 human genbank 54_36p -1 reviewed silent c.2706 p.V902 0.991 NULL HMMPfam_TRAP_240kDa - no_errors EPN1 29924 genome.wustl.edu 36 19 60898065 60898065 + Missense_Mutation SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 19 60898065 60898065 G C SNP EPN1 NM_013333 human genbank 54_36p +1 validated missense c.1348 p.G450R 1.000 NULL superfamily_ENTH_VHS,HMMPfam_ENTH,HMMSmart_ENTH,HMMPfam_UIM,HMMSmart_UIM - no_errors NCRNA00174 285908 genome.wustl.edu 36 7 65479880 65479880 + Missense_Mutation SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 7 65479880 65479880 G C SNP NCRNA00174 ENST00000324866 human ensembl 54_36p -1 known missense c.152 p.P51R 0.465 NULL NULL - no_errors HDAC8 55869 genome.wustl.edu 36 X 71708650 71708650 + Missense_Mutation SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 X 71708650 71708650 G A SNP HDAC8 NM_018486 human genbank 54_36p -1 reviewed missense c.146 p.A49V 1.000 superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl - no_errors C6orf150 115004 genome.wustl.edu 36 6 74191815 74191815 + Silent SNP G G T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 6 74191815 74191815 G T SNP C6orf150 NM_138441 human genbank 54_36p -1 validated silent c.1425 p.L475 0.146 NULL NULL - no_errors GPS1 2873 genome.wustl.edu 36 17 77606179 77606179 + Silent SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 17 77606179 77606179 C T SNP GPS1 ENST00000392357 human ensembl 54_36p +1 known silent c.501 p.F167 0.002 HMMPfam_RPN7 HMMPfam_RPN7 - no_start_codon PEX1 5189 genome.wustl.edu 36 7 91969330 91969330 + Splice_Site SNP C C A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 7 91969330 91969330 C A SNP PEX1 NM_000466 human genbank 54_36p -1 reviewed splice_site c.2227-1 e14-1 0.998 - - - no_errors DYNC1H1 1778 genome.wustl.edu 36 14 101578499 101578499 + Missense_Mutation SNP C C G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 14 101578499 101578499 C G SNP DYNC1H1 NM_001376 human genbank 54_36p +1 reviewed missense c.12301 p.L4101V 1.000 HMMPfam_Dynein_heavy HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors TRPS1 7227 genome.wustl.edu 36 8 116685305 116685305 + Missense_Mutation SNP T T G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 8 116685305 116685305 T G SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.2066 p.Q689P 1.000 HMMSmart_ZnF_C2H2 HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors MCAM 4162 genome.wustl.edu 36 11 118688064 118688064 + Missense_Mutation SNP C C A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 11 118688064 118688064 C A SNP MCAM NM_006500 human genbank 54_36p -1 validated missense c.1051 p.A351S 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig - no_errors PLA1A 51365 genome.wustl.edu 36 3 120830390 120830390 + Missense_Mutation SNP C C G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 3 120830390 120830390 C G SNP PLA1A NM_015900 human genbank 54_36p +1 validated missense c.1274 p.P425R 0.342 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,PatternScan_LIPASE_SER - no_errors VWA5A 4013 genome.wustl.edu 36 11 123498906 123498906 + Splice_Site SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 11 123498906 123498906 G C SNP VWA5A ENST00000392744 human ensembl 54_36p +1 known splice_site c.789+1 e6+1 1.000 - - - no_stop_codon WDR67 93594 genome.wustl.edu 36 8 124231549 124231549 + Missense_Mutation SNP A A T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 8 124231549 124231549 A T SNP WDR67 NM_145647 human genbank 54_36p +1 validated missense c.3067 p.I1023F 0.151 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors ANKRD50 57182 genome.wustl.edu 36 4 125811112 125811112 + Missense_Mutation SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 4 125811112 125811112 C T SNP ANKRD50 NM_020337 human genbank 54_36p -1 validated missense c.2770 p.G924R 0.998 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors EP400 57634 genome.wustl.edu 36 12 131068872 131068872 + Silent SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 12 131068872 131068872 C T SNP EP400 NM_015409 human genbank 54_36p +1 validated silent c.4272 p.S1424 1.000 NULL HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,superfamily_Homeodomain_like - no_errors TTF1 7270 genome.wustl.edu 36 9 134267198 134267198 + Missense_Mutation SNP T T G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 9 134267198 134267198 T G SNP TTF1 NM_007344 human genbank 54_36p -1 validated missense c.832 p.K278Q 0.123 NULL HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors NHSL1 57224 genome.wustl.edu 36 6 138796495 138796495 + Missense_Mutation SNP T T A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 6 138796495 138796495 T A SNP NHSL1 ENST00000342260 human ensembl 54_36p -1 known missense c.692 p.Q231L 0.925 NULL NULL - no_errors CACNA1B 774 genome.wustl.edu 36 9 140134551 140134551 + Silent SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 9 140134551 140134551 G A SNP CACNA1B NM_000718 human genbank 54_36p +1 validated silent c.6144 p.S2048 0.014 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors PAXIP1 22976 genome.wustl.edu 36 7 154413675 154413675 + Missense_Mutation SNP A A C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 7 154413675 154413675 A C SNP PAXIP1 NM_007349 human genbank 54_36p -1 reviewed missense c.298 p.F100V 1.000 HMMPfam_BRCT,superfamily_BRCT domain,HMMSmart_SM00292 superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292 - no_errors OR6P1 0 genome.wustl.edu 36 1 156799876 156799876 + Missense_Mutation SNP G G T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 1 156799876 156799876 G T SNP OR6P1 ENST00000334632 human ensembl 54_36p -1 known missense c.143 p.T48K 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors UBR3 130507 genome.wustl.edu 36 2 170493499 170493499 + Missense_Mutation SNP A A T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 170493499 170493499 A T SNP UBR3 ENST00000272793 human ensembl 54_36p +1 known missense c.2441 p.N814I 1.000 NULL HMMPfam_zf-UBR,HMMSmart_SM00396,superfamily_RING/U-box,HMMPfam_zf-C3HC4 - no_errors CEP350 9857 genome.wustl.edu 36 1 178272686 178272686 + Missense_Mutation SNP T T G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 1 178272686 178272686 T G SNP CEP350 NM_014810 human genbank 54_36p +1 reviewed missense c.3946 p.S1316A 0.954 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179339393 179339393 + Silent SNP C C A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 179339393 179339393 C A SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.9663 p.V3221 0.996 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors VWA5B2 90113 genome.wustl.edu 36 3 185439983 185439983 + Silent SNP C C A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 3 185439983 185439983 C A SNP VWA5B2 ENST00000273794 human ensembl 54_36p +1 known silent c.1590 p.P530 0.002 NULL superfamily_vWA-like - no_start_codon FLJ44048 401024 genome.wustl.edu 36 2 186379748 186379748 + Missense_Mutation SNP C C G novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 186379748 186379748 C G SNP FLJ44048 NM_207482 human genbank 54_36p +1 validated missense c.1564 p.L522V 0.995 NULL NULL - no_errors TFRC 7037 genome.wustl.edu 36 3 197266552 197266552 + Nonsense_Mutation SNP A A T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 3 197266552 197266552 A T SNP TFRC NM_003234 human genbank 54_36p -1 validated nonsense c.1695 p.Y565* 0.772 superfamily_Zn-dependent exopeptidases superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors CLK1 1195 genome.wustl.edu 36 2 201434820 201434820 + Nonsense_Mutation SNP G G C novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 201434820 201434820 G C SNP CLK1 NM_004071 human genbank 54_36p -1 reviewed nonsense c.11 p.S4* 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors EGLN1 54583 genome.wustl.edu 36 1 229568798 229568798 + Silent SNP G G A novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 1 229568798 229568798 G A SNP EGLN1 NM_022051 human genbank 54_36p -1 provisional silent c.1263 p.V421 0.713 NULL HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy - no_errors CXCR7 57007 genome.wustl.edu 36 2 237154758 237154758 + Missense_Mutation SNP C C T novel unknown TCGA-61-2611-02A-01W-1092-09 TCGA-61-2611-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 204bf013-8fed-4f18-82b7-218cc1f0b8a6 c758d83a-3656-43a4-ba90-22fbb0e32c38 2 237154758 237154758 C T SNP CXCR7 NM_020311 human genbank 54_36p +1 reviewed missense c.911 p.S304L 0.999 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