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 PLEKHN1 84069 genome.wustl.edu 36 1 892003 892003 + Missense_Mutation SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 892003 892003 G C SNP PLEKHN1 NM_032129 human genbank 54_36p +1 provisional missense c.140 p.G47A 0.316 NULL superfamily_SSF50729,HMMSmart_PH,HMMPfam_PH - no_errors ITGAE 3682 genome.wustl.edu 36 17 3595867 3595867 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 3595867 3595867 C T SNP ITGAE NM_002208 human genbank 54_36p -1 reviewed silent c.2259 p.R753 0.031 HMMPfam_Integrin_alpha2,superfamily_SSF69179 superfamily_SSF69318,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors OR51D1 390038 genome.wustl.edu 36 11 4617621 4617621 + Missense_Mutation SNP C G G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 11 4617621 4617621 C G SNP OR51D1 NM_001004751 human genbank 54_36p +1 provisional missense c.25 p.P9A 0.004 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ALOX12 239 genome.wustl.edu 36 17 6843003 6843003 + Missense_Mutation SNP G C C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 6843003 6843003 G C SNP ALOX12 NM_000697 human genbank 54_36p +1 validated missense c.550 p.E184Q 0.980 superfamily_Lipoxygenase,HMMPfam_Lipoxygenase HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2 - no_errors LAMA1 284217 genome.wustl.edu 36 18 7040767 7040767 + Missense_Mutation SNP G C C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 18 7040767 7040767 G C SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.514 p.P172A 0.997 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7518928 7518928 + Missense_Mutation SNP C T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 7518928 7518928 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.646 p.V216M 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 CPSF3 51692 genome.wustl.edu 36 2 9528992 9528992 + Missense_Mutation SNP A A T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 2 9528992 9528992 A T SNP CPSF3 NM_016207 human genbank 54_36p +1 provisional missense c.1926 p.K642N 1.000 NULL superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL - no_errors LHFPL4 375323 genome.wustl.edu 36 3 9569307 9569307 + Silent SNP C C G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 3 9569307 9569307 C G SNP LHFPL4 NM_198560 human genbank 54_36p -1 reviewed silent c.57 p.S19 1.000 NULL HMMPfam_L_HGMIC_fpl - no_errors JAGN1 84522 genome.wustl.edu 36 3 9910022 9910022 + Missense_Mutation SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 3 9910022 9910022 C A SNP JAGN1 NM_032492 human genbank 54_36p +1 validated missense c.513 p.D171E 1.000 HMMPfam_DUF1352 HMMPfam_DUF1352 - no_errors ICAM5 7087 genome.wustl.edu 36 19 10267148 10267148 + Missense_Mutation SNP G A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 19 10267148 10267148 G A SNP ICAM5 NM_003259 human genbank 54_36p +1 reviewed missense c.2357 p.G786E 0.987 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig HMMPfam_ICAM_N,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set - no_errors UNQ9391 203074 genome.wustl.edu 36 8 10427944 10427944 + Missense_Mutation SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 8 10427944 10427944 G C SNP UNQ9391 NM_198464 human genbank 54_36p +1 validated missense c.717 p.K239N 0.001 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors CASP9 842 genome.wustl.edu 36 1 15694413 15694413 + Missense_Mutation SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 15694413 15694413 G T SNP CASP9 NM_001229 human genbank 54_36p -1 reviewed missense c.990 p.D330E 0.827 superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14 HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS - no_errors FLII 2314 genome.wustl.edu 36 17 18095497 18095497 + Missense_Mutation SNP G A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 18095497 18095497 G A SNP FLII NM_002018 human genbank 54_36p -1 reviewed missense c.1403 p.A468V 0.000 superfamily_SSF55753 superfamily_SSF52047,HMMPfam_LRR_1,superfamily_SSF52058,HMMSmart_LRR_TYP,superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin - no_errors LOC729524 729524 genome.wustl.edu 36 13 18138508 18138508 + RNA SNP A T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 13 18138508 18138508 A T SNP LOC729524 XR_015575 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene HERC2P2 400322 genome.wustl.edu 36 15 18917737 18917737 + Missense_Mutation SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 15 18917737 18917737 C A SNP HERC2P2 ENST00000324413 human ensembl 54_36p -1 known missense c.1546 p.V516L 1.000 NULL HMMPfam_MIB_HERC2 - no_errors LZTR1 8216 genome.wustl.edu 36 22 19677964 19677964 + Missense_Mutation SNP C A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 22 19677964 19677964 C A SNP LZTR1 NM_006767 human genbank 54_36p +1 reviewed missense c.1274 p.P425H 1.000 superfamily_POZ domain superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB - no_errors NBL1 4681 genome.wustl.edu 36 1 19855978 19855978 + Silent SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 19855978 19855978 G C SNP NBL1 NM_182744 human genbank 54_36p +1 reviewed silent c.420 p.V140 0.999 HMMPfam_DAN,HMMSmart_CT HMMPfam_DAN,HMMSmart_CT - no_errors OSBPL1A 114876 genome.wustl.edu 36 18 19997243 19997243 + Missense_Mutation SNP C G G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 18 19997243 19997243 C G SNP OSBPL1A NM_080597 human genbank 54_36p -1 reviewed missense c.2751 p.R917S 1.000 HMMPfam_Oxysterol_BP superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_Oxysterol_BP,PatternScan_OSBP - no_errors ZNF208 7757 genome.wustl.edu 36 19 21946698 21946698 + Missense_Mutation SNP A C C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 19 21946698 21946698 A C SNP ZNF208 ENST00000340708 human ensembl 54_36p -1 known missense c.2591 p.V864G 0.186 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,superfamily_Multiheme cytochromes - no_start_codon LOC100130746 0 genome.wustl.edu 36 5 24207171 24207171 + RNA SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 5 24207171 24207171 G T SNP LOC100130746 XR_038810 human genbank 54_36p +1 model rna NULL NULL 0.273 - - - pseudogene TNRC6A 27327 genome.wustl.edu 36 16 24710436 24710436 + Missense_Mutation SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 16 24710436 24710436 C A SNP TNRC6A NM_014494 human genbank 54_36p +1 reviewed missense c.2972 p.S991Y 1.000 NULL PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD - no_errors PRKD1 5587 genome.wustl.edu 36 14 29138065 29138065 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 14 29138065 29138065 C T SNP PRKD1 NM_002742 human genbank 54_36p -1 validated silent c.2085 p.R695 0.700 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors MAP3K7IP3 257397 genome.wustl.edu 36 X 30783478 30783478 + Missense_Mutation SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 30783478 30783478 G T SNP MAP3K7IP3 NM_152787 human genbank 54_36p -1 reviewed missense c.225 p.N75K 1.000 NULL HMMPfam_CUE,HMMSmart_SM00546,superfamily_NZF domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1 - no_errors KPNA6 23633 genome.wustl.edu 36 1 32400553 32400553 + Missense_Mutation SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 32400553 32400553 C T SNP KPNA6 NM_012316 human genbank 54_36p +1 reviewed missense c.752 p.S251F 1.000 superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors CEP250 11190 genome.wustl.edu 36 20 33553130 33553130 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 20 33553130 33553130 C T SNP CEP250 NM_007186 human genbank 54_36p +1 reviewed silent c.3943 p.L1315 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors IFNAR2 3455 genome.wustl.edu 36 21 33557460 33557460 + Missense_Mutation SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 21 33557460 33557460 G A SNP IFNAR2 NM_207585 human genbank 54_36p +1 reviewed missense c.1333 p.A445T 0.000 NULL superfamily_Fibronectin type III,HMMPfam_Interfer-bind - no_errors RUNX1 861 genome.wustl.edu 36 21 35086443 35086443 + Silent SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 21 35086443 35086443 G A SNP RUNX1 NM_001754 human genbank 54_36p -1 reviewed silent c.1302 p.N434 1.000 HMMPfam_RunxI HMMPfam_Runt,superfamily_p53-like transcription factors,HMMPfam_RunxI - no_errors ARAP2 116984 genome.wustl.edu 36 4 35751792 35751792 + Missense_Mutation SNP T T C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 4 35751792 35751792 T C SNP ARAP2 NM_015230 human genbank 54_36p -1 reviewed missense c.4657 p.I1553V 1.000 NULL HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,HMMPfam_RA - no_errors FREM2 341640 genome.wustl.edu 36 13 38236457 38236457 + Silent SNP G A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 13 38236457 38236457 G A SNP FREM2 NM_207361 human genbank 54_36p +1 reviewed silent c.5280 p.T1760 0.965 HMMSmart_SM00237 HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors BRCA1 672 genome.wustl.edu 36 17 38529639 38529639 + Missense_Mutation SNP T C C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 38529639 38529639 T C SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed missense c.1 p.M1V 0.980 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - no_errors DNAH8 1769 genome.wustl.edu 36 6 38899325 38899325 + Missense_Mutation SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 6 38899325 38899325 G C SNP DNAH8 NM_001371 human genbank 54_36p +1 validated missense c.3079 p.A1027P 1.000 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors LOC400750 0 genome.wustl.edu 36 1 38948349 38948349 + RNA SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 38948349 38948349 G A SNP LOC400750 XR_039444 human genbank 54_36p +1 model rna NULL NULL 0.997 - - - pseudogene MED14 9282 genome.wustl.edu 36 X 40425100 40425100 + Missense_Mutation SNP T T C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 40425100 40425100 T C SNP MED14 NM_004229 human genbank 54_36p -1 reviewed missense c.2464 p.I822V 1.000 NULL HMMPfam_MED14 - no_errors DMKN 93099 genome.wustl.edu 36 19 40695855 40695855 + Missense_Mutation SNP A A C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 19 40695855 40695855 A C SNP DMKN NM_033317 human genbank 54_36p -1 reviewed missense c.363 p.I121M 0.002 NULL NULL - no_errors LOC728758 728758 genome.wustl.edu 36 15 41955517 41955517 + RNA SNP T T A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 15 41955517 41955517 T A SNP LOC728758 NR_003571 human genbank 54_36p -1 provisional rna NULL NULL 1.000 - - - pseudogene SHCBP1 79801 genome.wustl.edu 36 16 45187007 45187007 + Silent SNP T T A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 16 45187007 45187007 T A SNP SHCBP1 NM_024745 human genbank 54_36p -1 validated silent c.1422 p.S474 0.976 superfamily_Pectin lyase-like,HMMSmart_SM00710 superfamily_Pectin lyase-like,HMMSmart_SM00710 - no_errors C21orf58 54058 genome.wustl.edu 36 21 46546834 46546834 + Missense_Mutation SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 21 46546834 46546834 G T SNP C21orf58 NM_058180 human genbank 54_36p -1 validated missense c.806 p.A269D 0.001 NULL NULL - no_errors GABRA4 2557 genome.wustl.edu 36 4 46689647 46689647 + Missense_Mutation SNP T T A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 4 46689647 46689647 T A SNP GABRA4 NM_000809 human genbank 54_36p -1 reviewed missense c.160 p.S54C 1.000 superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors COL7A1 1294 genome.wustl.edu 36 3 48599495 48599495 + Missense_Mutation SNP C G G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 3 48599495 48599495 C G SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.3190 p.D1064H 0.991 superfamily_vWA-like,HMMPfam_VWA superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors LOC340602 340602 genome.wustl.edu 36 X 51167871 51167871 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 51167871 51167871 C T SNP LOC340602 NM_203407 human genbank 54_36p +1 predicted silent c.1263 p.I421 0.003 NULL NULL - no_errors HNRNPA1 3178 genome.wustl.edu 36 12 52962632 52962632 + Missense_Mutation SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 12 52962632 52962632 G T SNP HNRNPA1 NM_031157 human genbank 54_36p +1 reviewed missense c.592 p.G198C 0.998 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors TMEM59 9528 genome.wustl.edu 36 1 54281743 54281743 + Missense_Mutation SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 54281743 54281743 G A SNP TMEM59 NM_004872 human genbank 54_36p -1 provisional missense c.434 p.T145I 1.000 NULL NULL - no_errors HCRTR2 3062 genome.wustl.edu 36 6 55227958 55227958 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 6 55227958 55227958 C T SNP HCRTR2 NM_001526 human genbank 54_36p +1 reviewed silent c.468 p.I156 1.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2 - no_errors PHACTR3 116154 genome.wustl.edu 36 20 57763710 57763710 + Missense_Mutation SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 20 57763710 57763710 C T SNP PHACTR3 NM_080672 human genbank 54_36p +1 reviewed missense c.437 p.T146M 0.004 NULL HMMSmart_SM00707,HMMPfam_RPEL - no_errors LOC729667 729667 genome.wustl.edu 36 17 58381991 58381991 + RNA SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 58381991 58381991 C A SNP LOC729667 XR_016012 human genbank 54_36p -1 model rna NULL NULL 0.011 - - - pseudogene MS4A5 64232 genome.wustl.edu 36 11 59957937 59957937 + Missense_Mutation SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 11 59957937 59957937 C A SNP MS4A5 NM_023945 human genbank 54_36p +1 reviewed missense c.463 p.Q155K 0.000 HMMPfam_CD20 HMMPfam_CD20 - no_errors ENSG00000204533 0 genome.wustl.edu 36 19 61353917 61353917 + Silent SNP C T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 19 61353917 61353917 C T SNP ENSG00000204533 ENST00000376272 human ensembl 54_36p -1 known silent c.894 p.Q298 0.905 NULL NULL - no_stop_codon AHNAK 79026 genome.wustl.edu 36 11 62043250 62043250 + Missense_Mutation SNP T T C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 11 62043250 62043250 T C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.15215 p.K5072R 0.027 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC - no_errors CDH19 28513 genome.wustl.edu 36 18 62323431 62323431 + Missense_Mutation SNP G T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 18 62323431 62323431 G T SNP CDH19 NM_021153 human genbank 54_36p -1 reviewed missense c.1917 p.F639L 0.978 HMMPfam_Cadherin_C superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors LRIG1 26018 genome.wustl.edu 36 3 66543267 66543267 + Missense_Mutation SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 3 66543267 66543267 C T SNP LRIG1 NM_015541 human genbank 54_36p -1 validated missense c.911 p.S304N 1.000 superfamily_L domain-like,HMMSmart_SM00369 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 - no_errors SLC30A5 64924 genome.wustl.edu 36 5 68448864 68448864 + Missense_Mutation SNP A A C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 5 68448864 68448864 A C SNP SLC30A5 NM_022902 human genbank 54_36p +1 provisional missense c.1324 p.S442R 1.000 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors EDA 1896 genome.wustl.edu 36 X 69166098 69166098 + Silent SNP A A T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 69166098 69166098 A T SNP EDA NM_001399 human genbank 54_36p +1 reviewed silent c.726 p.G242 1.000 NULL HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF - no_errors DLG3 1741 genome.wustl.edu 36 X 69588486 69588486 + Missense_Mutation SNP C C G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 69588486 69588486 C G SNP DLG3 NM_021120 human genbank 54_36p +1 validated missense c.1030 p.L344V 1.000 HMMPfam_PDZ_assoc HMMPfam_MAGUK_N_PEST,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PDZ_assoc,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C - no_errors C8orf34 116328 genome.wustl.edu 36 8 69607926 69607926 + Missense_Mutation SNP A A G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 8 69607926 69607926 A G SNP C8orf34 NM_052958 human genbank 54_36p +1 predicted missense c.760 p.M254V 1.000 NULL NULL - no_errors SMC5 23137 genome.wustl.edu 36 9 72110069 72110069 + Silent SNP A A G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 9 72110069 72110069 A G SNP SMC5 NM_015110 human genbank 54_36p +1 validated silent c.1551 p.Q517 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540 - no_errors KLF9 687 genome.wustl.edu 36 9 72192612 72192612 + Missense_Mutation SNP A A C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 9 72192612 72192612 A C SNP KLF9 NM_001206 human genbank 54_36p -1 reviewed missense c.635 p.F212C 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors BCL7B 9275 genome.wustl.edu 36 7 72592161 72592161 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 7 72592161 72592161 C T SNP BCL7B NM_001707 human genbank 54_36p -1 reviewed silent c.423 p.Q141 1.000 NULL HMMPfam_BCL_N - no_errors RNF213 57674 genome.wustl.edu 36 17 75935878 75935878 + Missense_Mutation SNP G A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 17 75935878 75935878 G A SNP RNF213 NM_020914 human genbank 54_36p +1 validated missense c.3367 p.V1123M 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors SUCLG1 8802 genome.wustl.edu 36 2 84539860 84539860 + Silent SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 2 84539860 84539860 G A SNP SUCLG1 NM_003849 human genbank 54_36p -1 validated silent c.45 p.V15 0.983 NULL superfamily_NAD(P)-bd,HMMPfam_CoA_binding,superfamily_CoA_ligase,HMMPfam_Ligase_CoA,PatternScan_SUCCINYL_COA_LIG_1,PatternScan_SUCCINYL_COA_LIG_2 - no_errors MMRN1 22915 genome.wustl.edu 36 4 91075226 91075226 + Missense_Mutation SNP G A A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 4 91075226 91075226 G A SNP MMRN1 NM_007351 human genbank 54_36p +1 reviewed missense c.1372 p.E458K 0.546 NULL HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q - no_errors COL1A2 1278 genome.wustl.edu 36 7 93878184 93878184 + Silent SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 7 93878184 93878184 C T SNP COL1A2 NM_000089 human genbank 54_36p +1 reviewed silent c.1245 p.G415 0.999 HMMPfam_Collagen HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors CNN3 1266 genome.wustl.edu 36 1 95141661 95141661 + Missense_Mutation SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 95141661 95141661 G C SNP CNN3 NM_001839 human genbank 54_36p -1 validated missense c.65 p.S22C 0.882 superfamily_Calponin-homology domain CH-domain superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_CALPONIN_1,HMMPfam_Calponin - no_errors KLHL32 114792 genome.wustl.edu 36 6 97668533 97668533 + Missense_Mutation SNP G T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 6 97668533 97668533 G T SNP KLHL32 NM_052904 human genbank 54_36p +1 validated missense c.781 p.V261F 1.000 superfamily_Galactose oxidase central domain superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 - no_errors LPPR4 9890 genome.wustl.edu 36 1 99545047 99545047 + Missense_Mutation SNP C C T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 99545047 99545047 C T SNP LPPR4 NM_014839 human genbank 54_36p +1 reviewed missense c.2185 p.R729W 1.000 NULL superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014 - no_errors TEX10 54881 genome.wustl.edu 36 9 102148220 102148220 + Silent SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 9 102148220 102148220 G A SNP TEX10 NM_017746 human genbank 54_36p -1 provisional silent c.1092 p.S364 0.835 NULL superfamily_ARM-type_fold,HMMPfam_HEAT - no_errors MORF4L2 9643 genome.wustl.edu 36 X 102817890 102817890 + Missense_Mutation SNP T T G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 102817890 102817890 T G SNP MORF4L2 NM_012286 human genbank 54_36p -1 validated missense c.722 p.Y241S 1.000 HMMPfam_MRG HMMPfam_MRG - no_errors XIAP 331 genome.wustl.edu 36 X 122868554 122868554 + Missense_Mutation SNP G G C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 122868554 122868554 G C SNP XIAP NM_001167 human genbank 54_36p +1 reviewed missense c.1336 p.E446Q 1.000 superfamily_SSF57924 PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_RING - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345924 123345924 + Missense_Mutation SNP T T A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 123345924 123345924 T A SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6517 p.S2173C 1.000 HMMPfam_RHS_repeat HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat - no_errors TACC2 10579 genome.wustl.edu 36 10 123832928 123832928 + Missense_Mutation SNP G G A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 10 123832928 123832928 G A SNP TACC2 NM_206862 human genbank 54_36p +1 reviewed missense c.923 p.R308K 0.000 NULL HMMPfam_TACC - no_errors MAP3K5 4217 genome.wustl.edu 36 6 137061377 137061377 + Missense_Mutation SNP C T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 6 137061377 137061377 C T SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed missense c.749 p.C250Y 1.000 NULL HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology - no_errors GABRQ 55879 genome.wustl.edu 36 X 151559582 151559582 + Silent SNP A A G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 X 151559582 151559582 A G SNP GABRQ NM_018558 human genbank 54_36p +1 reviewed silent c.237 p.G79 1.000 superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors ETV3L 440695 genome.wustl.edu 36 1 155334375 155334375 + Missense_Mutation SNP C C A novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 155334375 155334375 C A SNP ETV3L NM_001004341 human genbank 54_36p -1 provisional missense c.516 p.Q172H 0.417 superfamily_SSF46785 superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors SYNJ2 8871 genome.wustl.edu 36 6 158422231 158422231 + Silent SNP C T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 6 158422231 158422231 C T SNP SYNJ2 NM_003898 human genbank 54_36p +1 provisional silent c.2670 p.A890 1.000 superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD - no_errors ATF6 22926 genome.wustl.edu 36 1 160038491 160038491 + Silent SNP T T G novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 160038491 160038491 T G SNP ATF6 NM_007348 human genbank 54_36p +1 validated silent c.714 p.P238 0.062 NULL HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC - no_errors GRM6 2916 genome.wustl.edu 36 5 178342698 178342698 + Missense_Mutation SNP A C C novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 5 178342698 178342698 A C SNP GRM6 NM_000843 human genbank 54_36p -1 reviewed missense c.2255 p.I752S 0.994 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 LRP2BP 55805 genome.wustl.edu 36 4 186528949 186528949 + Missense_Mutation SNP C T T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 4 186528949 186528949 C T SNP LRP2BP NM_018409 human genbank 54_36p -1 validated missense c.817 p.D273N 0.998 superfamily_HCP-like superfamily_HCP-like,HMMPfam_TPR_2,HMMSmart_SM00671,HMMPfam_Sel1 - no_errors ACTN2 88 genome.wustl.edu 36 1 234972909 234972909 + Nonsense_Mutation SNP G G T novel unknown TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e6556b91-c4cc-491c-863e-1b7a536eac50 188673ae-cf55-4e58-aff7-cc1b2d55ec07 1 234972909 234972909 G T SNP ACTN2 NM_001103 human genbank 54_36p +1 reviewed nonsense c.1198 p.E400* 1.000 superfamily_Spectrin repeat superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen - no_errors