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 MYOM2 9172 genome.wustl.edu 36 8 2037942 2037942 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 8 2037942 2037942 G C SNP MYOM2 NM_003970 human genbank 54_36p +1 validated missense c.2698 p.D900H 0.048 superfamily_FN_III-like superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2 - no_errors KREMEN2 79412 genome.wustl.edu 36 16 2954559 2954559 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 16 2954559 2954559 C G SNP KREMEN2 NM_172229 human genbank 54_36p +1 reviewed missense c.37 p.L13V 0.001 superfamily_Kringle-like superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMSmart_SM00321,HMMPfam_WSC,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 - no_errors VISA 57506 genome.wustl.edu 36 20 3793437 3793437 + Splice_Site SNP T T G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 20 3793437 3793437 T G SNP VISA NM_020746 human genbank 54_36p +1 validated splice_site c.1158+2 e5+2 0.969 - - - no_errors DNAJA3 9093 genome.wustl.edu 36 16 4415905 4415905 + Missense_Mutation SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 16 4415905 4415905 C A SNP DNAJA3 NM_005147 human genbank 54_36p +1 validated missense c.22 p.R8S 1.000 NULL superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ_CXXCXGXG,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep - no_errors SLC29A4 222962 genome.wustl.edu 36 7 5303263 5303263 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 5303263 5303263 C T SNP SLC29A4 NM_001040661 human genbank 54_36p +1 reviewed missense c.790 p.R264W 0.639 superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran - no_errors GAPDH 2597 genome.wustl.edu 36 12 6516803 6516803 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 6516803 6516803 G C SNP GAPDH NM_002046 human genbank 54_36p +1 reviewed missense c.511 p.V171L 1.000 superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Gp_dh_C HMMPfam_Gp_dh_N,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_GAPDH,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Gp_dh_C - no_errors TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 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 CAMTA1 23261 genome.wustl.edu 36 1 7646122 7646122 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 7646122 7646122 G C SNP CAMTA1 NM_015215 human genbank 54_36p +1 validated missense c.928 p.E310Q 1.000 NULL HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ - no_errors PLCB4 5332 genome.wustl.edu 36 20 9350041 9350041 + Missense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 20 9350041 9350041 G T SNP PLCB4 NM_000933 human genbank 54_36p +1 reviewed missense c.2216 p.R739L 1.000 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 superfamily_SSF50729,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1154 - no_errors ENSG00000111788 0 genome.wustl.edu 36 12 9356533 9356533 + Nonsense_Mutation SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 9356533 9356533 C A SNP ENSG00000111788 ENST00000341155 human ensembl 54_36p +1 known nonsense c.2514 p.C838* 0.999 HMMSmart_HELICc2 superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_DEAD_2,HMMSmart_HELICc2 - no_errors DNAH9 1770 genome.wustl.edu 36 17 11513268 11513268 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 17 11513268 11513268 G A SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed missense c.2894 p.R965Q 0.947 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 - no_errors PDE3B 5140 genome.wustl.edu 36 11 14622492 14622492 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 11 14622492 14622492 G C SNP PDE3B NM_000922 human genbank 54_36p +1 validated missense c.295 p.E99Q 0.999 NULL superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors OR10H1 26539 genome.wustl.edu 36 19 15778978 15778978 + Silent SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 19 15778978 15778978 G A SNP OR10H1 NM_013940 human genbank 54_36p -1 validated silent c.870 p.I290 1.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors SLC7A2 6542 genome.wustl.edu 36 8 17445289 17445289 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 8 17445289 17445289 C T SNP SLC7A2 NM_003046 human genbank 54_36p +1 validated missense c.182 p.T61I 0.526 NULL HMMPfam_AA_permease - no_errors PI4KAP1 728233 genome.wustl.edu 36 22 18763893 18763893 + Nonsense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 22 18763893 18763893 G C SNP PI4KAP1 ENST00000400467 human ensembl 54_36p -1 known nonsense c.1707 p.Y569* 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00146 superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors LATS2 26524 genome.wustl.edu 36 13 20451914 20451914 + Nonsense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 13 20451914 20451914 C T SNP LATS2 NM_014572 human genbank 54_36p -1 reviewed nonsense c.2688 p.W896* 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase HMMPfam_UBA,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C - no_errors NFATC4 4776 genome.wustl.edu 36 14 23915540 23915540 + Missense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 14 23915540 23915540 G T SNP NFATC4 NM_004554 human genbank 54_36p +1 reviewed missense c.2257 p.G753W 1.000 NULL superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG - no_errors CPD 1362 genome.wustl.edu 36 17 25796910 25796910 + Silent SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 17 25796910 25796910 C A SNP CPD NM_001304 human genbank 54_36p +1 reviewed silent c.2619 p.S873 0.402 HMMSmart_Zn_pept,superfamily_CarboxypepD_reg superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2,superfamily_CarboxypepD_reg - no_errors BTN3A3 10384 genome.wustl.edu 36 6 26559894 26559894 + Missense_Mutation SNP T T C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 6 26559894 26559894 T C SNP BTN3A3 NM_006994 human genbank 54_36p +1 validated missense c.1031 p.L344P 0.999 HMMSmart_PRY superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors FLT3 2322 genome.wustl.edu 36 13 27509346 27509346 + Missense_Mutation SNP T T C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 13 27509346 27509346 T C SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed missense c.1285 p.K429E 1.000 NULL superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors AP1B1 162 genome.wustl.edu 36 22 28065018 28065018 + Silent SNP G A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 22 28065018 28065018 G A SNP AP1B1 NM_001127 human genbank 54_36p -1 reviewed silent c.2124 p.G708 0.611 NULL superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C - no_errors MICB 4277 genome.wustl.edu 36 6 31581465 31581465 + Missense_Mutation SNP C T T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 6 31581465 31581465 C T SNP MICB NM_005931 human genbank 54_36p +1 reviewed missense c.163 p.P55S 0.000 superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407 - no_errors AK2P2 339736 genome.wustl.edu 36 2 31901777 31901777 + RNA SNP A A C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 31901777 31901777 A C SNP AK2P2 XR_017211 human genbank 54_36p -1 model rna NULL NULL 0.996 - - - pseudogene LOC100128974 0 genome.wustl.edu 36 15 33378280 33378280 + RNA SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 15 33378280 33378280 G T SNP LOC100128974 XR_038065 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene CPNE1 8904 genome.wustl.edu 36 20 33683318 33683318 + Missense_Mutation SNP T T A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 20 33683318 33683318 T A SNP CPNE1 NM_003915 human genbank 54_36p -1 reviewed missense c.500 p.Q167L 0.853 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 HMMSmart_C2,HMMPfam_C2,superfamily_C2_CaLB,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine - no_errors DDX17 10521 genome.wustl.edu 36 22 37211928 37211928 + Silent SNP T C C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 22 37211928 37211928 T C SNP DDX17 NM_001098504 human genbank 54_36p -1 reviewed silent c.2154 p.Q718 0.996 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors LOC727860 727860 genome.wustl.edu 36 10 39019402 39019402 + RNA SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 10 39019402 39019402 G T SNP LOC727860 XR_037651 human genbank 54_36p -1 model rna NULL NULL 0.999 - - - pseudogene BRWD1 54014 genome.wustl.edu 36 21 39592253 39592253 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 21 39592253 39592253 C G SNP BRWD1 NM_018963 human genbank 54_36p -1 reviewed missense c.324 p.R108S 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors ANK1 286 genome.wustl.edu 36 8 41664883 41664883 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 8 41664883 41664883 C T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed silent c.4206 p.Q1402 0.459 HMMSmart_SM00005,superfamily_DEATH domain superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors CATSPER2 117155 genome.wustl.edu 36 15 41726946 41726946 + Missense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 15 41726946 41726946 G T SNP CATSPER2 NM_172095 human genbank 54_36p -1 reviewed missense c.157 p.Q53K 0.002 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors TNFSF11 8600 genome.wustl.edu 36 13 42078995 42078995 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 13 42078995 42078995 C G SNP TNFSF11 NM_003701 human genbank 54_36p +1 reviewed missense c.895 p.L299V 0.975 superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42112783 42112783 + Missense_Mutation SNP T T A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 42112783 42112783 T A SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.2819 p.Q940L 1.000 HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors SPG11 80208 genome.wustl.edu 36 15 42687987 42687987 + Missense_Mutation SNP A A C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 15 42687987 42687987 A C SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed missense c.3400 p.C1134G 0.971 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors OPN5 221391 genome.wustl.edu 36 6 47862281 47862281 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 6 47862281 47862281 G A SNP OPN5 NM_181744 human genbank 54_36p +1 reviewed missense c.202 p.A68T 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN - no_errors GDF2 2658 genome.wustl.edu 36 10 48033734 48033734 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 10 48033734 48033734 C T SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed silent c.1140 p.V380 1.000 superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204 HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors CLCN5 1184 genome.wustl.edu 36 X 49738177 49738177 + Silent SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 X 49738177 49738177 G A SNP CLCN5 NM_000084 human genbank 54_36p +1 reviewed silent c.1257 p.P419 0.262 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS - no_errors ACVRL1 94 genome.wustl.edu 36 12 50593228 50593228 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 50593228 50593228 G A SNP ACVRL1 NM_000020 human genbank 54_36p +1 reviewed missense c.140 p.R47Q 1.000 HMMPfam_Activin_recp,superfamily_SSF57302 HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors KRT83 3889 genome.wustl.edu 36 12 50996989 50996989 + Missense_Mutation SNP A A G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 50996989 50996989 A G SNP KRT83 NM_002282 human genbank 54_36p -1 reviewed missense c.836 p.I279T 0.996 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors PNMAL2 0 genome.wustl.edu 36 19 51689646 51689646 + Missense_Mutation SNP G A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 19 51689646 51689646 G A SNP PNMAL2 NM_020709 human genbank 54_36p -1 validated missense c.917 p.P306L 0.000 NULL NULL - no_errors PRKG1 5592 genome.wustl.edu 36 10 53718550 53718550 + Missense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 10 53718550 53718550 G T SNP PRKG1 NM_006258 human genbank 54_36p +1 validated missense c.1768 p.D590Y 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133 - no_errors OR2AP1 0 genome.wustl.edu 36 12 54255152 54255152 + Silent SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 54255152 54255152 C G SNP OR2AP1 ENST00000321688 human ensembl 54_36p +1 known silent c.687 p.A229 0.002 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PCDH15 65217 genome.wustl.edu 36 10 55614990 55614990 + Silent SNP T T A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 10 55614990 55614990 T A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.1350 p.S450 0.965 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin - no_errors NDRG4 65009 genome.wustl.edu 36 16 57095809 57095809 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 16 57095809 57095809 C T SNP NDRG4 NM_020465 human genbank 54_36p +1 reviewed silent c.390 p.S130 0.649 superfamily_SSF53474,HMMPfam_Ndr superfamily_SSF53474,HMMPfam_Ndr - no_errors CACNG7 59284 genome.wustl.edu 36 19 59109578 59109578 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 19 59109578 59109578 G A SNP CACNG7 NM_031896 human genbank 54_36p +1 reviewed missense c.209 p.G70D 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors DIDO1 11083 genome.wustl.edu 36 20 60982554 60982554 + Silent SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 20 60982554 60982554 G A SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed silent c.5199 p.T1733 0.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC - no_errors KCNH5 27133 genome.wustl.edu 36 14 62316335 62316335 + Missense_Mutation SNP G A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 14 62316335 62316335 G A SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed missense c.1883 p.A628V 1.000 superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors ZNF107 51427 genome.wustl.edu 36 7 63804678 63804678 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 63804678 63804678 C T SNP ZNF107 NM_001013746 human genbank 54_36p +1 validated silent c.561 p.P187 0.019 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ROR1 4919 genome.wustl.edu 36 1 64416080 64416080 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 64416080 64416080 G A SNP ROR1 NM_005012 human genbank 54_36p +1 validated missense c.1768 p.G590R 0.997 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR - no_errors HAS3 3038 genome.wustl.edu 36 16 67706282 67706282 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 16 67706282 67706282 C T SNP HAS3 NM_005329 human genbank 54_36p +1 reviewed missense c.1274 p.T425I 1.000 NULL superfamily_SSF53448,HMMPfam_Glycos_transf_2 - no_errors NFAT5 10725 genome.wustl.edu 36 16 68251166 68251166 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 16 68251166 68251166 C G SNP NFAT5 NM_138713 human genbank 54_36p +1 reviewed missense c.1232 p.A411G 1.000 superfamily_p53-like transcription factors,HMMPfam_RHD superfamily_p53-like transcription factors,HMMPfam_RHD,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG - no_errors PCNX 22990 genome.wustl.edu 36 14 70583521 70583521 + Missense_Mutation SNP A A G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 14 70583521 70583521 A G SNP PCNX NM_014982 human genbank 54_36p +1 validated missense c.4106 p.N1369S 1.000 NULL HMMPfam_Pecanex_C - no_errors ADD2 119 genome.wustl.edu 36 2 70787016 70787016 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 70787016 70787016 C T SNP ADD2 NM_001617 human genbank 54_36p -1 reviewed silent c.33 p.S11 0.956 NULL superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II - no_errors ABHD11 83451 genome.wustl.edu 36 7 72789945 72789945 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 72789945 72789945 G C SNP ABHD11 NM_148912 human genbank 54_36p -1 reviewed missense c.345 p.S115R 1.000 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 - no_errors IDH3A 3419 genome.wustl.edu 36 15 76239509 76239509 + Silent SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 15 76239509 76239509 G A SNP IDH3A NM_005530 human genbank 54_36p +1 reviewed silent c.195 p.E65 1.000 superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh,PatternScan_IDH_IMDH - no_errors ADAMTS7 11173 genome.wustl.edu 36 15 76845774 76845774 + Missense_Mutation SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 15 76845774 76845774 C A SNP ADAMTS7 NM_014272 human genbank 54_36p -1 reviewed missense c.3534 p.R1178S 0.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors AP3B1 8546 genome.wustl.edu 36 5 77513090 77513090 + Silent SNP A A C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 5 77513090 77513090 A C SNP AP3B1 NM_003664 human genbank 54_36p -1 reviewed silent c.939 p.A313 0.860 HMMPfam_Adaptin_N,superfamily_ARM repeat HMMPfam_Adaptin_N,superfamily_ARM repeat - no_errors SHROOM3 57619 genome.wustl.edu 36 4 77919152 77919152 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 4 77919152 77919152 C T SNP SHROOM3 NM_020859 human genbank 54_36p +1 validated missense c.5786 p.T1929M 0.960 HMMPfam_ASD2 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2 - no_errors HAPLN1 1404 genome.wustl.edu 36 5 82973171 82973171 + Missense_Mutation SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 5 82973171 82973171 C A SNP HAPLN1 NM_001884 human genbank 54_36p -1 validated missense c.965 p.R322I 1.000 HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors LOC728979 728979 genome.wustl.edu 36 5 86216133 86216133 + RNA SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 5 86216133 86216133 C T SNP LOC728979 XR_015799 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene GBP4 115361 genome.wustl.edu 36 1 89428406 89428406 + Missense_Mutation SNP A A G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 89428406 89428406 A G SNP GBP4 NM_052941 human genbank 54_36p -1 validated missense c.1100 p.L367P 1.000 HMMPfam_GBP_C,superfamily_GBP superfamily_SSF52540,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_GBP - no_errors EEA1 8411 genome.wustl.edu 36 12 91771857 91771857 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 91771857 91771857 G C SNP EEA1 NM_003566 human genbank 54_36p -1 validated missense c.371 p.A124G 0.165 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE - no_errors TSGA10 80705 genome.wustl.edu 36 2 98981116 98981116 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 98981116 98981116 C G SNP TSGA10 NM_025244 human genbank 54_36p -1 validated missense c.2073 p.E691D 1.000 NULL NULL - no_errors MUC17 140453 genome.wustl.edu 36 7 100467454 100467454 + Missense_Mutation SNP A A G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 100467454 100467454 A G SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.6037 p.S2013G 0.370 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors KDELC1 79070 genome.wustl.edu 36 13 102248936 102248936 + Missense_Mutation SNP G A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 13 102248936 102248936 G A SNP KDELC1 NM_024089 human genbank 54_36p -1 reviewed missense c.86 p.P29L 0.985 HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN,HMMPfam_DUF821,HMMSmart_CAP10,PatternScan_ER_TARGET - no_errors ACTL7A 10881 genome.wustl.edu 36 9 110664503 110664503 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 9 110664503 110664503 C T SNP ACTL7A NM_006687 human genbank 54_36p +1 reviewed missense c.80 p.A27V 0.038 NULL HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268 - no_errors CDC16 8881 genome.wustl.edu 36 13 114048768 114048768 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 13 114048768 114048768 G C SNP CDC16 NM_001078645 human genbank 54_36p +1 reviewed missense c.1554 p.M518I 1.000 superfamily_TPR-like superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors SLC35F5 80255 genome.wustl.edu 36 2 114205691 114205691 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 114205691 114205691 C T SNP SLC35F5 NM_025181 human genbank 54_36p -1 provisional missense c.925 p.G309R 1.000 superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6 superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6 - no_errors HIP1R 9026 genome.wustl.edu 36 12 121898579 121898579 + Nonsense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 121898579 121898579 G T SNP HIP1R NM_003959 human genbank 54_36p +1 validated nonsense c.142 p.E48* 1.000 HMMPfam_ANTH,superfamily_ENTH_VHS,HMMSmart_ENTH HMMPfam_ANTH,superfamily_ENTH_VHS,HMMSmart_ENTH,superfamily_SSF109885,HMMSmart_ILWEQ,HMMPfam_I_LWEQ - no_errors SETD8 387893 genome.wustl.edu 36 12 122458074 122458074 + Silent SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 12 122458074 122458074 C T SNP SETD8 NM_020382 human genbank 54_36p +1 validated silent c.930 p.H310 1.000 superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET - no_errors SPAM1 6677 genome.wustl.edu 36 7 123381107 123381107 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 123381107 123381107 G A SNP SPAM1 NM_003117 human genbank 54_36p +1 reviewed missense c.247 p.A83T 0.000 HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat - no_errors VWA5A 4013 genome.wustl.edu 36 11 123499337 123499337 + Missense_Mutation SNP T T C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 11 123499337 123499337 T C SNP VWA5A NM_014622 human genbank 54_36p +1 validated missense c.985 p.Y329H 1.000 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA - no_errors DENND1A 57706 genome.wustl.edu 36 9 125184585 125184585 + Missense_Mutation SNP C A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 9 125184585 125184585 C A SNP DENND1A NM_020946 human genbank 54_36p -1 validated missense c.1977 p.K659N 0.983 NULL HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801 - no_errors MST4 51765 genome.wustl.edu 36 X 131016452 131016452 + Missense_Mutation SNP T T G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 X 131016452 131016452 T G SNP MST4 NM_016542 human genbank 54_36p +1 reviewed missense c.155 p.I52S 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors LOC401010 401010 genome.wustl.edu 36 2 131916906 131916906 + RNA SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 131916906 131916906 G A SNP LOC401010 NR_002826 human genbank 54_36p -1 validated rna NULL NULL 0.459 - - - pseudogene SLC2A6 11182 genome.wustl.edu 36 9 135331267 135331267 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 9 135331267 135331267 C G SNP SLC2A6 NM_017585 human genbank 54_36p -1 validated missense c.475 p.E159Q 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors SARDH 1757 genome.wustl.edu 36 9 135588791 135588791 + Missense_Mutation SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 9 135588791 135588791 G A SNP SARDH NM_007101 human genbank 54_36p -1 reviewed missense c.326 p.T109M 0.997 superfamily_SSF51905,HMMPfam_DAO superfamily_SSF51905,HMMPfam_DAO,superfamily_SSF54373,superfamily_SSF103025,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_SSF101790 - no_errors UTRN 7402 genome.wustl.edu 36 6 144825498 144825498 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 6 144825498 144825498 C G SNP UTRN NM_007124 human genbank 54_36p +1 reviewed missense c.2869 p.L957V 1.000 superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors SMARCD3 6604 genome.wustl.edu 36 7 150568130 150568130 + Splice_Site SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 7 150568130 150568130 C A SNP SMARCD3 NM_001003801 human genbank 54_36p -1 reviewed splice_site c.1173+1 e10+1 1.000 - - - no_errors SLC36A3 285641 genome.wustl.edu 36 5 150658354 150658354 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 5 150658354 150658354 C T SNP SLC36A3 NM_181774 human genbank 54_36p -1 validated missense c.212 p.G71D 0.334 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors OPN1LW 5956 genome.wustl.edu 36 X 153071668 153071668 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 X 153071668 153071668 G C SNP OPN1LW NM_020061 human genbank 54_36p +1 reviewed missense c.471 p.K157N 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN - no_errors CTAG2 30848 genome.wustl.edu 36 X 153534958 153534958 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 X 153534958 153534958 C T SNP CTAG2 NM_020994 human genbank 54_36p -1 validated missense c.26 p.G9E 0.000 NULL HMMPfam_Pcc1 - no_errors IPCEF1 26034 genome.wustl.edu 36 6 154530769 154530769 + Missense_Mutation SNP C A A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 6 154530769 154530769 C A SNP IPCEF1 NM_015553 human genbank 54_36p -1 validated missense c.1079 p.R360L 1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors GPD2 2820 genome.wustl.edu 36 2 157060810 157060810 + Silent SNP G G A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 157060810 157060810 G A SNP GPD2 NM_000408 human genbank 54_36p +1 validated silent c.111 p.L37 1.000 NULL superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,PatternScan_FAD_G3PDH_1,superfamily_FAD-linked reductases C-terminal domain,PatternScan_FAD_G3PDH_2,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors CTSO 1519 genome.wustl.edu 36 4 157083867 157083867 + Splice_Site SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 4 157083867 157083867 C T SNP CTSO NM_001334 human genbank 54_36p -1 reviewed splice_site c.136-1 e2-1 1.000 - - - no_errors UFC1 51506 genome.wustl.edu 36 1 159393684 159393684 + Missense_Mutation SNP T T G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 159393684 159393684 T G SNP UFC1 NM_016406 human genbank 54_36p +1 validated missense c.208 p.W70G 1.000 HMMPfam_UFC1 HMMPfam_UFC1 - no_errors TOR3A 64222 genome.wustl.edu 36 1 177329878 177329878 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 177329878 177329878 G C SNP TOR3A NM_022371 human genbank 54_36p +1 validated missense c.846 p.E282D 1.000 HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TOR1AIP1 26092 genome.wustl.edu 36 1 178125079 178125079 + Missense_Mutation SNP G G T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 178125079 178125079 G T SNP TOR1AIP1 NM_015602 human genbank 54_36p +1 validated missense c.562 p.D188Y 0.251 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors C1orf25 81627 genome.wustl.edu 36 1 183375852 183375852 + Missense_Mutation SNP C C A novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 183375852 183375852 C A SNP C1orf25 NM_030934 human genbank 54_36p -1 reviewed missense c.985 p.V329L 0.005 superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM - no_errors PLXNA2 5362 genome.wustl.edu 36 1 206282223 206282223 + Missense_Mutation SNP T T G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 206282223 206282223 T G SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.4129 p.S1377R 1.000 HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors MAP2 4133 genome.wustl.edu 36 2 210277460 210277460 + Silent SNP A A T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 210277460 210277460 A T SNP MAP2 NM_001039538 human genbank 54_36p +1 reviewed silent c.558 p.T186 1.000 NULL HMMPfam_RII_binding_1,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors SERPINE2 5270 genome.wustl.edu 36 2 224574849 224574849 + Missense_Mutation SNP G G C novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 2 224574849 224574849 G C SNP SERPINE2 NM_006216 human genbank 54_36p -1 validated missense c.13 p.L5V 0.306 NULL HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN - no_errors ARID4B 51742 genome.wustl.edu 36 1 233412331 233412331 + Missense_Mutation SNP C C G novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 233412331 233412331 C G SNP ARID4B NM_016374 human genbank 54_36p -1 reviewed missense c.2526 p.K842N 1.000 NULL HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501 - no_errors EXO1 9156 genome.wustl.edu 36 1 240102143 240102143 + Missense_Mutation SNP C C T novel unknown TCGA-59-2372-01A-01D-1526-09 TCGA-59-2372-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1d360c98-deb5-4338-a615-348fae76a970 6c8deb64-732f-434d-bf72-e537052c2d61 1 240102143 240102143 C T SNP EXO1 NM_006027 human genbank 54_36p +1 reviewed missense c.1454 p.T485I 0.981 NULL HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279 - no_errors