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-ND2 0 genome.wustl.edu 36 MT 4992 4992 + Silent SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 MT 4992 4992 G A SNP MT-ND2 ENST00000361453 human ensembl 54_36p +1 known silent c.522 p.Q174 NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C - no_stop_codon:bad_bp_length_for_coding_region IFITM1 8519 genome.wustl.edu 36 11 304259 304259 + Missense_Mutation SNP A A T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 11 304259 304259 A T SNP IFITM1 NM_003641 human genbank 54_36p +1 validated missense c.89 p.E30V 0.003 HMMPfam_CD225 HMMPfam_CD225 - no_errors ADD1 118 genome.wustl.edu 36 4 2899834 2899834 + Missense_Mutation SNP C C A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 4 2899834 2899834 C A SNP ADD1 NM_014189 human genbank 54_36p +1 reviewed missense c.2093 p.P698H 0.001 NULL superfamily_Aldolase_II_N,HMMPfam_Aldolase_II - no_errors TP53 7157 genome.wustl.edu 36 17 7518234 7518234 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 17 7518234 7518234 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.772 p.E258K 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 EMR3 84658 genome.wustl.edu 36 19 14613244 14613244 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 19 14613244 14613244 C T SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.1235 p.R412Q 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2 HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors FBXL5 26234 genome.wustl.edu 36 4 15236689 15236689 + Nonsense_Mutation SNP C T T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 4 15236689 15236689 C T SNP FBXL5 NM_012161 human genbank 54_36p -1 reviewed nonsense c.1134 p.W378* 1.000 superfamily_RNI-like,HMMSmart_SM00367 superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RNI-like,HMMSmart_SM00367,HMMPfam_LRR_1 - no_errors CLTCL1 8218 genome.wustl.edu 36 22 17621626 17621626 + Silent SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 22 17621626 17621626 G A SNP CLTCL1 ENST00000263200 human ensembl 54_36p -1 known silent c.375 p.T125 0.927 superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299 - no_errors MAPK7 5598 genome.wustl.edu 36 17 19225092 19225092 + Missense_Mutation SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 17 19225092 19225092 G A SNP MAPK7 NM_002749 human genbank 54_36p +1 reviewed missense c.977 p.R326H 0.416 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST - no_errors ZNF626 199777 genome.wustl.edu 36 19 20599743 20599743 + Silent SNP A A G novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 19 20599743 20599743 A G SNP ZNF626 NM_001076675 human genbank 54_36p -1 validated silent c.780 p.D260 0.008 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors GYS2 2998 genome.wustl.edu 36 12 21602460 21602460 + Missense_Mutation SNP G G C novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 12 21602460 21602460 G C SNP GYS2 NM_021957 human genbank 54_36p -1 validated missense c.1363 p.P455A 1.000 HMMPfam_Glycogen_syn HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors KIAA1462 57608 genome.wustl.edu 36 10 30376592 30376592 + Silent SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 10 30376592 30376592 C T SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated silent c.156 p.A52 0.000 NULL NULL - no_errors KRTAP15-1 254950 genome.wustl.edu 36 21 30734616 30734616 + Missense_Mutation SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 21 30734616 30734616 G A SNP KRTAP15-1 NM_181623 human genbank 54_36p +1 provisional missense c.100 p.A34T 0.527 HMMPfam_PMG HMMPfam_PMG - no_errors MYST1 84148 genome.wustl.edu 36 16 31039162 31039162 + Missense_Mutation SNP T T A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 16 31039162 31039162 T A SNP MYST1 NM_182958 human genbank 54_36p +1 provisional missense c.288 p.F96L 1.000 HMMSmart_SM00298 HMMSmart_SM00298,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS - no_errors TAF1L 138474 genome.wustl.edu 36 9 32624324 32624324 + Silent SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 9 32624324 32624324 G A SNP TAF1L NM_153809 human genbank 54_36p -1 provisional silent c.1254 p.D418 1.000 NULL HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors CSMD2 114784 genome.wustl.edu 36 1 33849298 33849298 + Silent SNP G G T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 33849298 33849298 G T SNP CSMD2 NM_052896 human genbank 54_36p -1 validated silent c.6153 p.S2051 0.999 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC - no_errors GOLGA4 2803 genome.wustl.edu 36 3 37342323 37342323 + Missense_Mutation SNP A A C novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 3 37342323 37342323 A C SNP GOLGA4 NM_002078 human genbank 54_36p +1 reviewed missense c.3942 p.E1314D 1.000 NULL superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain - no_errors KIF21A 55605 genome.wustl.edu 36 12 38021613 38021613 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 12 38021613 38021613 C T SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.1843 p.E615K 1.000 superfamily_WD40 repeat-like superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors MGA 23269 genome.wustl.edu 36 15 39822370 39822370 + Silent SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 15 39822370 39822370 C T SNP MGA NM_001080541 human genbank 54_36p +1 provisional silent c.5067 p.V1689 1.000 NULL superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353 - no_errors SLC38A2 54407 genome.wustl.edu 36 12 45046972 45046972 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 12 45046972 45046972 C T SNP SLC38A2 NM_018976 human genbank 54_36p -1 validated missense c.505 p.V169M 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors UBA1 7317 genome.wustl.edu 36 X 46953930 46953930 + Missense_Mutation SNP C C A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 X 46953930 46953930 C A SNP UBA1 ENST00000377269 human ensembl 54_36p +1 known missense c.247 p.L83M 0.002 NULL HMMPfam_UBA_e1_thiolCys,superfamily_MoeB,HMMPfam_UBACT,HMMPfam_UBA_e1_C - no_errors PCTK1 5127 genome.wustl.edu 36 X 46971037 46971037 + Missense_Mutation SNP T T C novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 X 46971037 46971037 T C SNP PCTK1 NM_006201 human genbank 54_36p +1 reviewed missense c.1028 p.I343T 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PSG2 5670 genome.wustl.edu 36 19 48262574 48262574 + Missense_Mutation SNP A A T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 19 48262574 48262574 A T SNP PSG2 NM_031246 human genbank 54_36p -1 validated missense c.983 p.L328H 0.000 NULL HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors TUBGCP6 85378 genome.wustl.edu 36 22 49024642 49024642 + Missense_Mutation SNP A A G novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 22 49024642 49024642 A G SNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed missense c.374 p.V125A 0.000 NULL HMMPfam_Spc97_Spc98 - no_errors SRP68 6730 genome.wustl.edu 36 17 71569211 71569211 + Missense_Mutation SNP G G T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 17 71569211 71569211 G T SNP SRP68 NM_014230 human genbank 54_36p -1 reviewed missense c.601 p.H201N 1.000 superfamily_TPR-like superfamily_TPR-like - no_errors GLUD1 2746 genome.wustl.edu 36 10 88801513 88801513 + Missense_Mutation SNP T T C novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 10 88801513 88801513 T C SNP GLUD1 NM_005271 human genbank 54_36p -1 validated missense c.1652 p.N551S 1.000 superfamily_NAD(P)-bd superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd - no_errors MTERF 7978 genome.wustl.edu 36 7 91341435 91341435 + Silent SNP G G C novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 7 91341435 91341435 G C SNP MTERF NM_006980 human genbank 54_36p -1 validated silent c.609 p.T203 0.959 HMMPfam_mTERF,HMMSmart_SM00733 HMMPfam_mTERF,HMMSmart_SM00733 - no_errors LOC441736 441736 genome.wustl.edu 36 15 100129730 100129730 + RNA SNP A A G novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 15 100129730 100129730 A G SNP LOC441736 XR_042320 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene NRK 203447 genome.wustl.edu 36 X 105043321 105043321 + Missense_Mutation SNP A A G novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 X 105043321 105043321 A G SNP NRK ENST00000243300 human ensembl 54_36p +1 known missense c.2270 p.N757S 1.000 superfamily_p53-like transcription factors superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,HMMSmart_SM00036,HMMPfam_CNH - no_errors MYO16 23026 genome.wustl.edu 36 13 108273517 108273517 + Silent SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 13 108273517 108273517 C T SNP MYO16 NM_015011 human genbank 54_36p +1 validated silent c.921 p.A307 0.267 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors CCDC54 84692 genome.wustl.edu 36 3 108579576 108579576 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 3 108579576 108579576 C T SNP CCDC54 NM_032600 human genbank 54_36p +1 provisional missense c.452 p.T151M 0.000 NULL NULL - no_errors CADPS2 93664 genome.wustl.edu 36 7 121820780 121820780 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 7 121820780 121820780 C T SNP CADPS2 NM_017954 human genbank 54_36p -1 validated missense c.2839 p.A947T 1.000 NULL HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041 - no_errors KPRP 448834 genome.wustl.edu 36 1 150999763 150999763 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 150999763 150999763 C T SNP KPRP NM_001025231 human genbank 54_36p +1 provisional missense c.1075 p.P359S 0.119 NULL NULL - no_errors MLL3 58508 genome.wustl.edu 36 7 151474754 151474754 + Splice_Site SNP C C G novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 7 151474754 151474754 C G SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed splice_site c.13895-1 e53-1 1.000 - - - no_errors ZNF275 10838 genome.wustl.edu 36 X 152265895 152265895 + Silent SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 X 152265895 152265895 C T SNP ZNF275 NM_001080485 human genbank 54_36p +1 validated silent c.726 p.C242 0.767 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC391126 391126 genome.wustl.edu 36 1 164055361 164055361 + RNA SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 164055361 164055361 C T SNP LOC391126 XR_017684 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DNM3 26052 genome.wustl.edu 36 1 170223550 170223550 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 170223550 170223550 C T SNP DNM3 NM_015569 human genbank 54_36p +1 validated nonsense c.367 p.R123* 0.795 HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_GED,HMMSmart_GED - no_errors TNR 7143 genome.wustl.edu 36 1 173592177 173592177 + Missense_Mutation SNP G G A novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 173592177 173592177 G A SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.3019 p.R1007W 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like - no_errors OR2M3 127062 genome.wustl.edu 36 1 246433516 246433516 + Missense_Mutation SNP C C T novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 1 246433516 246433516 C T SNP OR2M3 NM_001004689 human genbank 54_36p +1 provisional missense c.524 p.A175V 0.000 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 IL21R 50615 genome.wustl.edu 36 16 27363513 27363514 + Frame_Shift_Del DEL CC CC - novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 CC CC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 16 27363513 27363514 CC - DEL IL21R NM_021798 human genbank 54_36p +1 reviewed frame_shift_del c.657_658 p.P220fs 0.884:0.839 superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1 superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1 (deletion:cds_exon[27363364,27363541]) no_errors CRKRS 51755 genome.wustl.edu 36 17 34927320 34927322 + In_Frame_Del DEL GAG GAG - novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 GAG GAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 17 34927320 34927322 GAG - DEL CRKRS NM_016507 human genbank 54_36p +1 validated in_frame_del c.2948_2950 p.RE983in_frame_delQ 1.000:1.000:1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST (deletion:cds_exon[34927219,34927335]) no_errors CCDC6 8030 genome.wustl.edu 36 10 61234185 61234191 + Frame_Shift_Del DEL AGGTGAT AGGTGAT - novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 AGGTGAT AGGTGAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 10 61234185 61234191 AGGTGAT - DEL CCDC6 NM_005436 human genbank 54_36p -1 validated frame_shift_del c.1104_1098 p.I366fs 0.278:0.999:1.000:1.000:1.000:1.000:0.999 NULL HMMPfam_DUF2046 (deletion:cds_exon[61234184,61234284]) no_errors SLC27A6 28965 genome.wustl.edu 36 5 128329801 128329801 + Frame_Shift_Del DEL C C - novel unknown TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 577edea6-f2dd-4b8f-b079-45c995e3d558 88e26722-56e8-4085-b90b-593c7f21f3e3 5 128329801 128329801 C - DEL SLC27A6 NM_001017372 human genbank 54_36p +1 reviewed frame_shift_del c.72 p.P25fs 1.000 NULL superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING (deletion:cds_exon[128329730,128330210]) no_errors