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 default_gene_name gene_name_source ABCA12 26154 genome.wustl.edu 37 2 215835046 215835046 + Nonsense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 215835046 215835046 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.5641 p.R1881* 0.138 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43856750 43856750 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 12 43856750 43856750 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.1562 p.C521Y 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ANKRD13C 81573 genome.wustl.edu 37 1 70736563 70736563 + Missense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 70736563 70736563 G T SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known missense c.1471 p.P491T 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ANO6 196527 genome.wustl.edu 37 12 45751137 45751137 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 12 45751137 45751137 C T SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.928 p.L310F 0.011 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ARSJ 79642 genome.wustl.edu 37 4 114823522 114823522 + Missense_Mutation SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 4 114823522 114823522 C G SNP ARSJ ENST00000315366 human ensembl 70_37 -1 known missense c.1708 p.E570Q 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC C16orf90 646174 genome.wustl.edu 37 16 3544593 3544593 + Missense_Mutation SNP C C A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 3544593 3544593 C A SNP C16orf90 ENST00000437192 human ensembl 70_37 -1 known missense c.331 p.G111C 0.978 NULL NULL - no_errors C16orf90 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34074229 34074229 + RNA SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 34074229 34074229 C G SNP CAPRIN1 ENST00000526477 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CAPRIN1 HGNC CCT5 22948 genome.wustl.edu 37 5 10264873 10264873 + Missense_Mutation SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 10264873 10264873 A G SNP CCT5 ENST00000280326 human ensembl 70_37 +1 known missense c.1604 p.K535R 1.000 superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC CMYA5 202333 genome.wustl.edu 37 5 79033976 79033976 + Missense_Mutation SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 79033976 79033976 A G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.9388 p.T3130A 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNTRL 11064 genome.wustl.edu 37 9 123877440 123877440 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 9 123877440 123877440 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.1417 p.E473K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COL12A1 1303 genome.wustl.edu 37 6 75843579 75843579 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 6 75843579 75843579 C T SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.5659 p.E1887K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000233539 0 genome.wustl.edu 37 7 46728852 46728852 + RNA SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 7 46728852 46728852 G T SNP ENSG00000233539 ENST00000469937 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011294.3 Clone_based_vega_gene ENSG00000261096 0 genome.wustl.edu 37 2 232677017 232677018 + RNA INS - - A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 232677017 232677018 - A INS ENSG00000261096 ENST00000563949 human ensembl 70_37 +1 known rna NULL NULL 0.014:0.017 - - - no_errors RP11-690I21.2 Clone_based_vega_gene EPN3 55040 genome.wustl.edu 37 17 48618234 48618234 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 17 48618234 48618234 G A SNP EPN3 ENST00000537145 human ensembl 70_37 +1 known missense c.1144 p.V382I 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC GAS2 2620 genome.wustl.edu 37 11 22759271 22759271 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 11 22759271 22759271 G C SNP GAS2 ENST00000278187 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC GHR 2690 genome.wustl.edu 37 5 42719441 42719441 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 5 42719441 42719441 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1832 p.A611V 0.972 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GLTSCR1 29998 genome.wustl.edu 37 19 48204833 48204833 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 48204833 48204833 G A SNP GLTSCR1 ENST00000396720 human ensembl 70_37 +1 known missense c.3844 p.D1282N 0.942 NULL NULL - no_errors GLTSCR1 HGNC HK2 3099 genome.wustl.edu 37 2 75101407 75101407 + Missense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 75101407 75101407 G T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.706 p.A236S 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC IKBKB 3551 genome.wustl.edu 37 8 42174278 42174278 + Silent SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 8 42174278 42174278 G T SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known silent c.981 p.V327 0.332 superfamily_Kinase-like_dom,pfscan_Ubiquitin_supergroup pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC KIF2C 11004 genome.wustl.edu 37 1 45216175 45216175 + Silent SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 45216175 45216175 G A SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known silent c.378 p.E126 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC MMP24 10893 genome.wustl.edu 37 20 33855066 33855066 + Silent SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 20 33855066 33855066 G A SNP MMP24 ENST00000246186 human ensembl 70_37 +1 known silent c.1038 p.R346 1.000 pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC MUC16 94025 genome.wustl.edu 37 19 9068304 9068304 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 9068304 9068304 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.19142 p.S6381L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC NBEA 26960 genome.wustl.edu 37 13 36220012 36220012 + Nonsense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 13 36220012 36220012 G T SNP NBEA ENST00000379922 human ensembl 70_37 +1 known nonsense c.295 p.E99* 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NDE1 54820 genome.wustl.edu 37 16 15790663 15790663 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 15790663 15790663 G C SNP NDE1 ENST00000396353 human ensembl 70_37 +1 known missense c.893 p.R298T 1.000 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15280981 15280981 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 19 15280981 15280981 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.5115 p.K1705 1.000 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NQO1 1728 genome.wustl.edu 37 16 69745052 69745052 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 69745052 69745052 C T SNP NQO1 ENST00000320623 human ensembl 70_37 -1 known missense c.652 p.E218K 1.000 NULL pfam_Flavodoxin_fold,pfam_FMN_red - no_errors NQO1 HGNC OTOA 146183 genome.wustl.edu 37 16 21690532 21690532 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 21690532 21690532 G C SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.179 p.S60T 1.000 NULL NULL - no_errors OTOA HGNC PER3 8863 genome.wustl.edu 37 1 7895971 7895971 + Nonsense_Mutation SNP G G T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 7895971 7895971 G T SNP PER3 ENST00000361923 human ensembl 70_37 +1 known nonsense c.3337 p.E1113* 0.287 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PIN1P1 5301 genome.wustl.edu 37 1 70385093 70385093 + RNA SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 70385093 70385093 C T SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors PIN1P1 HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124190642 124190643 + RNA INS - - T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 10 124190642 124190643 - T INS PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.007 - - - no_errors PLEKHA1 HGNC SH3D19 152503 genome.wustl.edu 37 4 152054300 152054300 + Missense_Mutation SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 4 152054300 152054300 C G SNP SH3D19 ENST00000304527 human ensembl 70_37 -1 known missense c.1804 p.E602Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC SIM1 6492 genome.wustl.edu 37 6 100896461 100896461 + Missense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 6 100896461 100896461 C T SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.637 p.V213M 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC SLC5A11 115584 genome.wustl.edu 37 16 24922824 24922824 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 16 24922824 24922824 C T SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known silent c.1998 p.C666 0.006 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC SMAD4 4089 genome.wustl.edu 37 18 48603032 48603032 + Nonsense_Mutation SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 18 48603032 48603032 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known nonsense c.1333 p.R445* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SPATA31A1 647060 genome.wustl.edu 37 9 39361204 39361204 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 9 39361204 39361204 G A SNP SPATA31A1 ENST00000377647 human ensembl 70_37 +1 known missense c.3442 p.V1148I 0.000 NULL NULL - no_errors SPATA31A1 HGNC TOMM7 54543 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 70_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130892 38130892 + Missense_Mutation SNP G G C TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 22 38130892 38130892 G C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4549 p.E1517Q 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TUBA8 51807 genome.wustl.edu 37 22 18609310 18609310 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 22 18609310 18609310 C T SNP TUBA8 ENST00000330423 human ensembl 70_37 +1 known silent c.565 p.L189 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC UBR4 23352 genome.wustl.edu 37 1 19439131 19439131 + Silent SNP C C T TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 1 19439131 19439131 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.11688 p.L3896 0.998 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ZNF2 7549 genome.wustl.edu 37 2 95847189 95847189 + Missense_Mutation SNP G G A TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f23f9cb3-be25-4fb1-ad3a-8ac3ec0894e4 b42c3a13-affb-44db-b466-d88d9f3a5630 2 95847189 95847189 G A SNP ZNF2 ENST00000340539 human ensembl 70_37 +1 known missense c.616 p.E206K 0.733 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC