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 MUC6 4588 genome.wustl.edu 36 11 1006919 1006919 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 11 1006919 1006919 C T SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.5882 p.R1961K 0.002 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041 - no_errors MUC2 4583 genome.wustl.edu 36 11 1083430 1083430 + Missense_Mutation SNP C C A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 11 1083430 1083430 C A SNP MUC2 ENST00000359061 human ensembl 54_36p +1 known missense c.5150 p.T1717N 0.088 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors - no_stop_codon SIRPB1 10326 genome.wustl.edu 36 20 1499655 1499655 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 20 1499655 1499655 G A SNP SIRPB1 NM_006065 human genbank 54_36p -1 reviewed missense c.880 p.R294W 0.001 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C1-set,HMMSmart_SM00407 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C1-set,HMMSmart_SM00407 - no_errors SERPINB6 5269 genome.wustl.edu 36 6 2904419 2904419 + Silent SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 6 2904419 2904419 G A SNP SERPINB6 NM_004568 human genbank 54_36p -1 validated silent c.147 p.T49 0.993 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors TP53 7157 genome.wustl.edu 36 17 7518996 7518996 + Missense_Mutation SNP T T C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 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 ADCY2 108 genome.wustl.edu 36 5 7857770 7857770 + Missense_Mutation SNP G G T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 7857770 7857770 G T SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed missense c.2848 p.G950C 1.000 HMMSmart_CYCc,HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors MFN2 9927 genome.wustl.edu 36 1 11986665 11986665 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 1 11986665 11986665 G A SNP MFN2 NM_014874 human genbank 54_36p +1 reviewed missense c.1190 p.R397Q 0.969 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin - no_errors KLF2 10365 genome.wustl.edu 36 19 16298789 16298789 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 19 16298789 16298789 C T SNP KLF2 NM_016270 human genbank 54_36p +1 validated missense c.1015 p.R339C 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC440570 440570 genome.wustl.edu 36 1 17071324 17071324 + RNA SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 1 17071324 17071324 C T SNP LOC440570 XR_041951 human genbank 54_36p +1 model rna NULL NULL 0.005 - - - no_errors ABCC8 6833 genome.wustl.edu 36 11 17388698 17388698 + Missense_Mutation SNP C C G novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 11 17388698 17388698 C G SNP ABCC8 NM_000352 human genbank 54_36p -1 reviewed missense c.2635 p.D879H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC646090 646090 genome.wustl.edu 36 15 18742300 18742300 + RNA SNP C C A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 15 18742300 18742300 C A SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene C16orf62 57020 genome.wustl.edu 36 16 19491960 19491960 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 16 19491960 19491960 C T SNP C16orf62 NM_020314 human genbank 54_36p +1 predicted missense c.304 p.R102C 1.000 NULL NULL - no_errors LZTR1 8216 genome.wustl.edu 36 22 19675967 19675967 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 22 19675967 19675967 C T SNP LZTR1 NM_006767 human genbank 54_36p +1 reviewed missense c.842 p.P281L 0.993 superfamily_Galactose oxidase central domain,HMMSmart_SM00612 superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20509736 20509736 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 15 20509736 20509736 G A SNP CYFIP1 NM_014608 human genbank 54_36p +1 validated nonsense c.1938 p.W646* 1.000 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20513700 20513700 + Missense_Mutation SNP A A T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 15 20513700 20513700 A T SNP CYFIP1 NM_014608 human genbank 54_36p +1 validated missense c.2087 p.N696I 1.000 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors MPP7 143098 genome.wustl.edu 36 10 28418752 28418752 + Missense_Mutation SNP A A C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 10 28418752 28418752 A C SNP MPP7 NM_173496 human genbank 54_36p -1 validated missense c.977 p.L326R 1.000 superfamily_SH3 HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin - no_errors ITGAL 3683 genome.wustl.edu 36 16 30415286 30415286 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 16 30415286 30415286 G A SNP ITGAL NM_002209 human genbank 54_36p +1 reviewed missense c.1730 p.G577E 0.997 superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191 superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors SKIV2L 6499 genome.wustl.edu 36 6 32039474 32039474 + Missense_Mutation SNP G G C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 6 32039474 32039474 G C SNP SKIV2L NM_006929 human genbank 54_36p +1 reviewed missense c.1632 p.Q544H 0.997 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT - no_errors CPNE1 8904 genome.wustl.edu 36 20 33683069 33683069 + Silent SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 20 33683069 33683069 G A SNP CPNE1 NM_003915 human genbank 54_36p -1 reviewed silent c.582 p.V194 0.996 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 HMMSmart_C2,HMMPfam_C2,superfamily_C2_CaLB,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine - no_errors ZCCHC7 84186 genome.wustl.edu 36 9 37116555 37116555 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 9 37116555 37116555 G A SNP ZCCHC7 NM_032226 human genbank 54_36p +1 validated missense c.226 p.V76I 0.998 NULL superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343 - no_errors RPGR 6103 genome.wustl.edu 36 X 38020908 38020908 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f X 38020908 38020908 G A SNP RPGR NM_000328 human genbank 54_36p -1 reviewed missense c.1967 p.A656V 0.037 NULL superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1 - no_errors UNC5CL 222643 genome.wustl.edu 36 6 41107432 41107432 + Missense_Mutation SNP T T C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 6 41107432 41107432 T C SNP UNC5CL NM_173561 human genbank 54_36p -1 provisional missense c.1085 p.N362S 0.996 NULL HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41822603 41822603 + Missense_Mutation SNP G G C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 1 41822603 41822603 G C SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.453 p.I151M 0.699 NULL PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors LOC648603 648603 genome.wustl.edu 36 X 48520295 48520295 + RNA SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f X 48520295 48520295 C T SNP LOC648603 XR_038238 human genbank 54_36p -1 model rna NULL NULL 0.999 - - - pseudogene PHF8 23133 genome.wustl.edu 36 X 54085944 54085944 + Silent SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f X 54085944 54085944 G A SNP PHF8 ENST00000357988 human ensembl 54_36p -1 known silent c.51 p.P17 0.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_EGF_2,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC - no_errors DDX4 54514 genome.wustl.edu 36 5 55095640 55095640 + Missense_Mutation SNP T T A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 55095640 55095640 T A SNP DDX4 NM_024415 human genbank 54_36p +1 validated missense c.325 p.F109I 0.998 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors LOC642975 642975 genome.wustl.edu 36 11 56214343 56214343 + RNA SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 11 56214343 56214343 C T SNP LOC642975 XR_016156 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene RTN1 6252 genome.wustl.edu 36 14 59143862 59143862 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 14 59143862 59143862 C T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.1867 p.V623I 1.000 HMMPfam_Reticulon HMMPfam_Reticulon,PatternScan_HISTONE_H4 - no_errors DOCK7 85440 genome.wustl.edu 36 1 62695810 62695810 + Missense_Mutation SNP C C A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 1 62695810 62695810 C A SNP DOCK7 NM_033407 human genbank 54_36p -1 validated missense c.6274 p.V2092F 1.000 NULL HMMPfam_Ded_cyto - no_errors PRDX5 25824 genome.wustl.edu 36 11 63842369 63842369 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 11 63842369 63842369 G A SNP PRDX5 NM_012094 human genbank 54_36p +1 reviewed missense c.106 p.G36R 0.001 NULL superfamily_Thioredoxin-like,HMMPfam_Redoxin - no_errors VTI1B 10490 genome.wustl.edu 36 14 67196346 67196346 + Missense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 14 67196346 67196346 C T SNP VTI1B NM_006370 human genbank 54_36p -1 validated missense c.221 p.R74Q 1.000 HMMPfam_V-SNARE HMMPfam_V-SNARE,HMMSmart_SM00397 - no_errors SLC4A4 8671 genome.wustl.edu 36 4 72642356 72642356 + Missense_Mutation SNP C T T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 4 72642356 72642356 C T SNP SLC4A4 NM_001098484 human genbank 54_36p +1 reviewed missense c.2827 p.R943C 1.000 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp - no_errors MSH3 4437 genome.wustl.edu 36 5 80124379 80124379 + Missense_Mutation SNP G G T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 80124379 80124379 G T SNP MSH3 NM_002439 human genbank 54_36p +1 validated missense c.2615 p.G872V 1.000 HMMPfam_MutS_V,superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_DNA repair protein MutS domain I,HMMPfam_MutS_I,superfamily_DNA repair protein MutS domain II,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533,HMMPfam_MutS_V,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors SH3BGRL 6451 genome.wustl.edu 36 X 80419244 80419244 + Nonsense_Mutation SNP G G T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f X 80419244 80419244 G T SNP SH3BGRL NM_003022 human genbank 54_36p +1 validated nonsense c.151 p.E51* 1.000 HMMPfam_SH3BGR,superfamily_Thioredoxin-like HMMPfam_SH3BGR,superfamily_Thioredoxin-like - no_errors GLMN 11146 genome.wustl.edu 36 1 92528356 92528356 + Silent SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 1 92528356 92528356 C T SNP GLMN NM_053274 human genbank 54_36p -1 reviewed silent c.381 p.Q127 0.996 HMMPfam_FKBP12 HMMPfam_FKBP12 - no_errors UBE3B 89910 genome.wustl.edu 36 12 108425223 108425223 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 12 108425223 108425223 G A SNP UBE3B NM_130466 human genbank 54_36p +1 reviewed missense c.1295 p.R432H 1.000 NULL HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors AMD1 262 genome.wustl.edu 36 6 111303022 111303022 + Missense_Mutation SNP C C A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 6 111303022 111303022 C A SNP AMD1 NM_001634 human genbank 54_36p +1 reviewed missense c.21 p.F7L 1.000 HMMPfam_SAM_decarbox,superfamily_S-AdenosylMet_decarbase_core HMMPfam_SAM_decarbox,superfamily_S-AdenosylMet_decarbase_core,PatternScan_ADOMETDC - no_errors TMCC1 23023 genome.wustl.edu 36 3 130872172 130872172 + Missense_Mutation SNP G G T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 3 130872172 130872172 G T SNP TMCC1 NM_001017395 human genbank 54_36p -1 validated missense c.1202 p.A401E 0.120 HMMPfam_Tmemb_cc2 HMMPfam_Tmemb_cc2 - no_errors AKR1B1 231 genome.wustl.edu 36 7 133786939 133786939 + Missense_Mutation SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 7 133786939 133786939 G A SNP AKR1B1 NM_001628 human genbank 54_36p -1 reviewed missense c.173 p.A58V 0.992 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3 - no_errors CTNNA1 1495 genome.wustl.edu 36 5 138173685 138173685 + Nonsense_Mutation SNP C C T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 138173685 138173685 C T SNP CTNNA1 NM_001903 human genbank 54_36p +1 validated nonsense c.361 p.R121* 1.000 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin,PatternScan_VINCULIN_1 - no_errors PCDHB16 57717 genome.wustl.edu 36 5 140544037 140544037 + Silent SNP T T C novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 140544037 140544037 T C SNP PCDHB16 NM_020957 human genbank 54_36p +1 reviewed silent c.1719 p.T573 0.007 superfamily_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMSmart_CA,HMMPfam_Cadherin - no_errors PCOLCE2 26577 genome.wustl.edu 36 3 144049911 144049911 + Missense_Mutation SNP C C A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 3 144049911 144049911 C A SNP PCOLCE2 NM_013363 human genbank 54_36p -1 provisional missense c.286 p.G96C 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_ABC_TRANSPORTER_1,superfamily_TIMP-like,HMMSmart_SM00643,HMMPfam_NTR - no_errors SMC4 10051 genome.wustl.edu 36 3 161623988 161623988 + Missense_Mutation SNP G G T novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 3 161623988 161623988 G T SNP SMC4 NM_001002800 human genbank 54_36p +1 validated missense c.2101 p.D701Y 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Smc hinge domain,HMMPfam_SMC_hinge superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_Smc hinge domain,HMMPfam_SMC_hinge - no_errors THBS2 7058 genome.wustl.edu 36 6 169379770 169379770 + Missense_Mutation SNP T T A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 6 169379770 169379770 T A SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed missense c.1175 p.Q392L 0.924 superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1 PatternScan_EGF_1,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_CA,HMMPfam_EGF,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,HMMPfam_TSP_C - no_errors GRM6 2916 genome.wustl.edu 36 5 178342572 178342572 + Missense_Mutation SNP A A G novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 5 178342572 178342572 A G SNP GRM6 NM_000843 human genbank 54_36p -1 reviewed missense c.2381 p.I794T 1.000 HMMPfam_7tm_3 superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors PNKD 25953 genome.wustl.edu 36 2 218917774 218917774 + Splice_Site SNP G G A novel unknown TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 830f887f-acb6-47a8-a759-eae2b906894b abb2536d-63bf-4556-951d-c102116dc80f 2 218917774 218917774 G A SNP PNKD NM_015488 human genbank 54_36p +1 validated splice_site c.985-1 e10-1 1.000 - - - no_errors