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 ABCB8 11194 broad.mit.edu 36 7 150372194 150372194 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 7 150372194 150372194 C A SNP ABCB8 NM_007188 human genbank 54_36p 1 reviewed missense c.1969 p.R657S 0.01 HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540 - no_errors ADAMTSL3 57188 broad.mit.edu 36 15 82485191 82485191 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 15 82485191 82485191 G A SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.4655 p.R1552Q 0.98 NULL HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors ADCY2 108 broad.mit.edu 36 5 7467689 7467689 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 5 7467689 7467689 G T SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.214 p.V72F 0.81 NULL HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors ALMS1 7840 broad.mit.edu 36 2 73466540 73466545 + In_Frame_Del DEL GGAGGA - GGAGGA novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 GGAGGA GGAGGA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 2 73466540 73466545 GGAGGA - DEL ALMS1 NM_015120 human genbank 54_36p 1 reviewed in_frame_del c.36_41 p.EE16in_frame_del 0.986:0.995:0.998:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[73466505,73466828]) no_errors B3GALT2 8707 broad.mit.edu 36 1 191416457 191416457 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 191416457 191416457 C T SNP B3GALT2 NM_003783 human genbank 54_36p -1 reviewed missense c.859 p.A287T 1 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors C3orf59 151963 broad.mit.edu 36 3 193999851 193999851 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 3 193999851 193999851 C G SNP C3orf59 NM_178496 human genbank 54_36p -1 validated missense c.488 p.C163S 1 NULL NULL - no_errors CDK12 51755 broad.mit.edu 36 17 34902577 34902577 + Nonsense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 17 34902577 34902577 G A SNP CRKRS NM_016507 human genbank 54_36p 1 validated nonsense c.2156 p.W719* 1 superfamily_Protein kinase-like (PK-like) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors COL6A6 131873 broad.mit.edu 36 3 131764946 131764946 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 3 131764946 131764946 G C SNP COL6A6 NM_001102608 human genbank 54_36p 1 provisional missense c.409 p.V137L 1 HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like - no_errors CRLS1 54675 broad.mit.edu 36 20 5960658 5960658 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 20 5960658 5960658 C G SNP CRLS1 NM_019095 human genbank 54_36p 1 validated missense c.661 p.R221G 1 HMMPfam_CDP-OH_P_transf PatternScan_CDP_ALCOHOL_P_TRANSF,HMMPfam_CDP-OH_P_transf - no_errors CYP2E1 1571 broad.mit.edu 36 10 135192003 135192003 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 10 135192003 135192003 C G SNP CYP2E1 NM_000773 human genbank 54_36p 1 reviewed missense c.206 p.T69R 0.97 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors DGKH 160851 broad.mit.edu 36 13 41681575 41681575 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 13 41681575 41681575 A G SNP DGKH NM_178009 human genbank 54_36p 1 reviewed missense c.2824 p.R942G 1 NULL HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00454,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_PH domain-like,superfamily_Cysteine-rich domain - no_errors E2F7 144455 broad.mit.edu 36 12 75947794 75947794 + Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 12 75947794 75947794 T A SNP E2F7 NM_203394 human genbank 54_36p -1 validated missense c.1832 p.K611I 0.77 NULL superfamily_Winged helix DNA-binding domain,HMMPfam_E2F_TDP - no_errors GIF 2694 broad.mit.edu 36 11 59369478 59369478 + Silent SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 11 59369478 59369478 G A SNP GIF NM_005142 human genbank 54_36p -1 reviewed silent c.25 p.L9 0 HMMPfam_Cobalamin_bind HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING - no_errors IL11RA 3590 broad.mit.edu 36 9 34647128 34647128 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 9 34647128 34647128 G A SNP IL11RA NM_004512 human genbank 54_36p 1 reviewed missense c.428 p.R143H 1 superfamily_Fibronectin type III,HMMSmart_SM00060 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F3,HMMPfam_fn3 - no_errors LPA 4018 broad.mit.edu 36 6 160935006 160935006 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 6 160935006 160935006 C T SNP LPA NM_005577 human genbank 54_36p -1 validated silent c.3603 p.Q1201 0.02 HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like HMMPfam_Kringle,HMMSmart_SM00130,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors LRRIQ3 127255 broad.mit.edu 36 1 74279941 74279941 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 74279941 74279941 C G SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred missense c.1262 p.S421T 0 NULL superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1 - no_errors MLL3 58508 broad.mit.edu 36 7 151510449 151510449 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 7 151510449 151510449 A C SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.5429 p.L1810W 0.99 NULL PatternScan_HMGI_Y,HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,superfamily_FYVE/PHD zinc finger,HMMPfam_AT_hook,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,PatternScan_ATPASE_ALPHA_BETA,superfamily_SET domain - no_errors MME 4311 broad.mit.edu 36 3 156347676 156347676 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 3 156347676 156347676 A G SNP MME NM_000902 human genbank 54_36p 1 reviewed missense c.1466 p.N489S 0.05 superfamily_Metalloproteases (zincins) catalytic domain HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,superfamily_Metalloproteases (zincins) catalytic domain - no_errors MTMR1 8776 broad.mit.edu 36 X 149656477 149656477 + Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd X 149656477 149656477 T A SNP MTMR1 NM_003828 human genbank 54_36p 1 reviewed missense c.1348 p.S450T 0.9 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404 HMMSmart_SM00568,superfamily_PH domain-like,HMMPfam_GRAM,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors MYL2 4633 broad.mit.edu 36 12 109837929 109837929 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 12 109837929 109837929 C A SNP MYL2 NM_000432 human genbank 54_36p -1 reviewed missense c.142 p.D48Y 1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors NUP160 23279 broad.mit.edu 36 11 47770961 47770961 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 11 47770961 47770961 T C SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.3403 p.I1135V 1 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors OR4C13 283092 broad.mit.edu 36 11 49930659 49930659 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 11 49930659 49930659 A G SNP OR4C13 NM_001001955 human genbank 54_36p 1 provisional missense c.109 p.M37V 0 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors PCDHB16 57717 broad.mit.edu 36 5 140544180 140544180 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 5 140544180 140544180 A G SNP PCDHB16 NM_020957 human genbank 54_36p 1 reviewed missense c.1862 p.N621S 0.67 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors PDE4DIP 9659 broad.mit.edu 36 1 143663557 143663557 + Splice_Site SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 143663557 143663557 C T SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated splice_site c.518+1 e4+1 1 - - - no_errors PDIK1L 149420 broad.mit.edu 36 1 26321116 26321116 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 26321116 26321116 C G SNP PDIK1L NM_152835 human genbank 54_36p 1 validated missense c.487 p.R163G 1 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PNLIP 5406 broad.mit.edu 36 10 118305559 118305559 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 10 118305559 118305559 G C SNP PNLIP NM_000936 human genbank 54_36p 1 reviewed missense c.869 p.S290T 1 HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308 - no_errors PPA2 27068 broad.mit.edu 36 4 106594233 106594233 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 4 106594233 106594233 T C SNP PPA2 NM_176869 human genbank 54_36p -1 reviewed missense c.238 p.M80V 0.95 superfamily_Inorganic pyrophosphatase superfamily_Inorganic pyrophosphatase,HMMPfam_Pyrophosphatase,PatternScan_PPASE - no_errors PPAPDC1A 196051 broad.mit.edu 36 10 122324720 122324720 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 10 122324720 122324720 G A SNP PPAPDC1A NM_001030059 human genbank 54_36p 1 validated missense c.533 p.R178Q 1 superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2 PatternScan_TUBULIN_B_AUTOREG,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2 - no_errors PRELP 5549 broad.mit.edu 36 1 201719889 201719889 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 201719889 201719889 C T SNP PRELP NM_002725 human genbank 54_36p 1 reviewed silent c.954 p.L318 1 HMMPfam_LRR_1,superfamily_L domain-like HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like - no_errors RAD23A 5886 broad.mit.edu 36 19 12924845 12924845 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 19 12924845 12924845 G C SNP RAD23A NM_005053 human genbank 54_36p 1 reviewed missense c.1074 p.Q358H 1 superfamily_UBA_like PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA,superfamily_XPC-bd,HMMSmart_STI1,HMMPfam_XPC-binding - no_errors SPTA1 6708 broad.mit.edu 36 1 156879836 156879836 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 1 156879836 156879836 C A SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.4342 p.G1448W 1 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors TP53 7157 broad.mit.edu 36 17 7520087 7520121 + Frame_Shift_Del DEL AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 17 7520087 7520121 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.325_291 p.Q100fs 0.330:0.183:0.165:0.162:0.166:0.178:0.151:0.019:0.003:0.025:0.345:0.734:0.731:0.078:0.860:0.941:0.999:0.999:0.993:0.668:0.645:0.642:0.600:0.610:0.602:0.560:0.575:0.595:0.590:0.909:0.938:0.944:1.000:1.000:1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD (deletion:cds_exon[7520037,7520315]) no_errors TRIB3 57761 broad.mit.edu 36 20 319976 319976 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 20 319976 319976 C G SNP TRIB3 NM_021158 human genbank 54_36p 1 reviewed missense c.337 p.R113G 0 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase - no_errors VGLL1 51442 broad.mit.edu 36 X 135458788 135458788 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd X 135458788 135458788 G A SNP VGLL1 NM_016267 human genbank 54_36p 1 provisional missense c.589 p.G197R 0.25 NULL HMMPfam_Vg_Tdu,HMMSmart_SM00711 - no_errors WIPI2 26100 broad.mit.edu 36 7 5224105 5224105 + Silent SNP C C T novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 7 5224105 5224105 C T SNP WIPI2 NM_015610 human genbank 54_36p 1 validated silent c.603 p.H201 1 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like - no_errors ZFP57 346171 broad.mit.edu 36 6 29749153 29749153 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 6 29749153 29749153 C G SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred missense c.654 p.K218N 0.75 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors ZNF445 353274 broad.mit.edu 36 3 44471659 44471659 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 3 44471659 44471659 C G SNP ZNF445 NM_181489 human genbank 54_36p -1 validated missense c.387 p.L129F 1 HMMPfam_SCAN,HMMSmart_SCAN HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF583 147949 broad.mit.edu 36 19 61626618 61626618 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a8a53d5f-6fdd-41fa-9b3b-baf270a2b997 712bf481-0073-4fdd-a1a5-323ea080bfdd 19 61626618 61626618 G A SNP ZNF583 NM_152478 human genbank 54_36p 1 provisional missense c.779 p.R260K 0.01 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