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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val FAM120C 0 genome.wustl.edu 37 X 54160395 54160395 + Silent SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 54160395 54160395 A T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known silent c.1701 p.T567 0.075 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 54 0 0.00 45 19 29.69 77 0 0.00 66 26 28.26 NPBWR2 0 genome.wustl.edu 37 20 62737859 62737859 + Missense_Mutation SNP T T G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 20 62737859 62737859 T G SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.326 p.Y109S 0.976 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 - - 59 0 0.00 37 29 43.94 14 0 0.00 10 4 28.57 PMP22 0 genome.wustl.edu 37 17 15134197 15134197 + Missense_Mutation SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 15134197 15134197 T C SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.341 p.H114R 0.000 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 tier1 - - 26 0 0.00 34 6 15.00 87 0 0.00 130 33 20.12 TCHH 0 genome.wustl.edu 37 1 152080272 152080272 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 152080272 152080272 C A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5421 p.R1807S 0.014 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 80 0 0.00 59 14 19.18 24 0 0.00 28 8 22.22 MYBBP1A 0 genome.wustl.edu 37 17 4448396 4448396 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 4448396 4448396 C G SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2235 p.E745D 1.000 pfam_D_pol_V,superfamily_ARM-type_fold pfam_D_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 tier1 - - 56 0 0.00 61 10 14.08 42 0 0.00 43 9 17.31 FAM71F1 0 genome.wustl.edu 37 7 128356956 128356956 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 128356956 128356956 C A SNP FAM71F1 ENST00000485070 human ensembl 74_37 +1 putative missense c.103 p.P35T 0.988 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 tier1 - - 24 0 0.00 37 18 32.73 86 0 0.00 105 51 32.69 DYTN 0 genome.wustl.edu 37 2 207564924 207564924 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 207564924 207564924 C T SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.500 p.G167E 0.959 pfam_EF-hand_dom_typ2 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 tier1 - - 23 0 0.00 11 6 35.29 69 0 0.00 32 33 50.77 LRP2 0 genome.wustl.edu 37 2 170089920 170089920 + Splice_Site SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 170089920 170089920 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known splice_site c.5098+1 e30+1 0.966 - - - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 80 0 0.00 58 8 12.12 87 0 0.00 56 27 32.14 CAC1G 0 genome.wustl.edu 37 17 48703577 48703577 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 48703577 48703577 C A SNP CAC1G ENST00000359106 human ensembl 74_37 +1 known missense c.6599 p.P2200Q 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1G HGNC ENSG00000006283 tier1 - - 75 0 0.00 85 17 16.67 31 0 0.00 28 4 12.50 HERC2 0 genome.wustl.edu 37 15 28380807 28380807 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 28380807 28380807 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.12047 p.R4016K 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 22 0 0.00 29 6 17.14 50 0 0.00 44 10 18.52 BET1 0 genome.wustl.edu 37 7 93605309 93605309 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 93605309 93605309 C T SNP BET1 ENST00000357520 human ensembl 74_37 -1 known silent c.339 p.R113 0.002 NULL pfam_T_SRE_dom,pfscan_T_SRE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 38 0 0.00 43 25 36.76 85 0 0.00 65 47 41.96 SYMPK 0 genome.wustl.edu 37 19 46351034 46351034 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 46351034 46351034 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.652 p.R218C 0.963 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 42 0 0.00 38 13 25.49 56 0 0.00 50 19 27.54 ENSG00000226738 0 genome.wustl.edu 37 22 50986016 50986016 + R SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 22 50986016 50986016 T A SNP ENSG00000226738 ENST00000434237 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CTA-384D8.31 Clone_based_vega_gene ENSG00000226738 tier1 - - 31 0 0.00 12 4 25.00 77 0 0.00 20 5 20.00 SCN9A 0 genome.wustl.edu 37 2 167159809 167159809 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 167159809 167159809 A G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.695 p.L232P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 28 0 0.00 15 8 34.78 77 0 0.00 37 11 22.92 ADCY2 0 genome.wustl.edu 37 5 7820784 7820784 + Silent SNP A A C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 7820784 7820784 A C SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.3105 p.G1035 0.741 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 47 0 0.00 28 10 26.32 114 0 0.00 71 13 15.48 BIRC6 0 genome.wustl.edu 37 2 32605333 32605333 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 32605333 32605333 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.620 p.T207I 1.000 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 28 0 0.00 24 5 17.24 83 0 0.00 75 14 15.73 CPSF1 0 genome.wustl.edu 37 8 145621845 145621845 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 8 145621845 145621845 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.2794 p.R932C 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 24 0 0.00 5 15 75.00 39 0 0.00 16 18 52.94 P2RX3 0 genome.wustl.edu 37 11 57135558 57135558 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 11 57135558 57135558 C T SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known silent c.918 p.D306 0.782 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 tier1 - - 35 0 0.00 16 12 42.86 82 0 0.00 46 35 43.21 GPR98 0 genome.wustl.edu 37 5 89968475 89968475 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 89968475 89968475 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4865 p.Y1622C 1.000 pfam_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 48 0 0.00 36 8 18.18 94 0 0.00 92 13 12.38 MUC7 0 genome.wustl.edu 37 4 71346984 71346984 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 71346984 71346984 A T SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.523 p.T175S 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 tier1 - - 137 0 0.00 102 28 21.54 33 0 0.00 27 10 27.03 BRINP3 0 genome.wustl.edu 37 1 190067919 190067919 + Silent SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 190067919 190067919 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1530 p.V510 0.998 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 35 0 0.00 35 7 16.67 67 0 0.00 45 10 18.18 BRINP3 0 genome.wustl.edu 37 1 190067918 190067918 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 190067918 190067918 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1531 p.H511N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 37 0 0.00 36 7 16.28 67 0 0.00 46 10 17.86 STK11IP 0 genome.wustl.edu 37 2 220473312 220473312 + Silent SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 220473312 220473312 C G SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel silent c.1611 p.L537 0.986 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 tier1 - - 45 0 0.00 32 6 15.79 64 0 0.00 37 18 32.73 ENSG00000259037 0 genome.wustl.edu 37 14 105055650 105055650 + R SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 14 105055650 105055650 C T SNP ENSG00000259037 ENST00000556073 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-614O9.1 Clone_based_vega_gene ENSG00000259037 tier1 - - 27 0 0.00 27 7 20.59 93 0 0.00 74 11 12.94 ITGA2B 0 genome.wustl.edu 37 17 42461715 42461715 + Silent SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 42461715 42461715 G A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known silent c.855 p.V285 0.080 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 47 0 0.00 41 25 37.88 67 0 0.00 44 23 34.33 FAM135B 0 genome.wustl.edu 37 8 139164708 139164708 + Silent SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 8 139164708 139164708 T A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.2010 p.S670 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 45 0 0.00 36 10 21.28 83 0 0.00 68 15 18.07 KRT76 0 genome.wustl.edu 37 12 53164948 53164948 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 53164948 53164948 A T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known missense c.1319 p.L440H 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 tier1 - - 74 0 0.00 63 19 23.17 45 0 0.00 45 19 29.69 C19orf57 0 genome.wustl.edu 37 19 14000757 14000757 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 14000757 14000757 C T SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known silent c.912 p.V304 0.000 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 rs139071536 GMAF=0.0005 47 0 0.00 57 18 24.00 23 0 0.00 22 6 21.43 MCM9 0 genome.wustl.edu 37 6 119137161 119137161 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 119137161 119137161 C T SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.2258 p.S753N 0.000 NULL pfam_MCM_D-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,smart_AAA+_ATPase,prints_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 38 0 0.00 42 6 12.50 74 0 0.00 85 12 12.37 INF2 0 genome.wustl.edu 37 14 105178793 105178793 + Nonsense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 14 105178793 105178793 C G SNP INF2 ENST00000392634 human ensembl 74_37 +1 known nonsense c.2513 p.S838* 0.120 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 77 0 0.00 42 34 44.74 43 0 0.00 21 14 40.00 ENSG00000242111 0 genome.wustl.edu 37 9 107038454 107038454 + R SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 107038454 107038454 T A SNP ENSG00000242111 ENST00000493279 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors RP11-86L19.2 Clone_based_vega_gene ENSG00000242111 tier1 - - 22 0 0.00 15 11 42.31 106 0 0.00 49 21 30.00 PM20D1 0 genome.wustl.edu 37 1 205814604 205814604 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 205814604 205814604 G A SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known missense c.338 p.S113L 0.998 NULL pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 tier1 rs189235498 GMAF=0.0005 58 0 0.00 37 12 24.49 50 0 0.00 57 11 16.18 SPHKAP 0 genome.wustl.edu 37 2 228884539 228884539 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 228884539 228884539 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1031 p.A344D 0.016 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 55 0 0.00 44 9 16.98 89 0 0.00 59 13 18.06 BOD1L1 0 genome.wustl.edu 37 4 13602177 13602177 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 13602177 13602177 T A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6347 p.E2116V 0.987 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 40 0 0.00 27 16 37.21 45 0 0.00 29 10 25.64 DJC22 0 genome.wustl.edu 37 12 49745369 49745369 + R SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 49745369 49745369 C T SNP DJC22 ENST00000552651 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DJC22 HGNC ENSG00000178401 tier1 - - 19 0 0.00 11 5 31.25 59 0 0.00 45 15 25.00 CTSE 0 genome.wustl.edu 37 1 206327499 206327499 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 206327499 206327499 G A SNP CTSE ENST00000361052 human ensembl 74_37 +1 known missense c.703 p.E235K 0.997 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSE HGNC ENSG00000196188 tier1 - - 99 0 0.00 63 27 30.00 81 1 1.22 61 23 27.38 TMEM2 0 genome.wustl.edu 37 9 74319671 74319671 + Nonsense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 74319671 74319671 G A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known nonsense c.3034 p.R1012* 0.995 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 tier1 - - 41 0 0.00 28 7 20.00 83 0 0.00 58 13 18.06 CPXCR1 0 genome.wustl.edu 37 X 88009153 88009153 + Silent SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 88009153 88009153 T C SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known silent c.738 p.S246 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 112 0 0.00 52 11 17.46 55 0 0.00 45 9 16.67 C3AR1 0 genome.wustl.edu 37 12 8211888 8211888 + Silent SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 8211888 8211888 A G SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known silent c.894 p.P298 0.000 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 tier1 - - 24 0 0.00 22 6 21.43 85 0 0.00 80 22 21.57 TRIM66 0 genome.wustl.edu 37 11 8665970 8665970 + R SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 11 8665970 8665970 T C SNP TRIM66 ENST00000531498 human ensembl 74_37 -1 known rna NULL NULL 0.871 - - - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 24 0 0.00 16 6 27.27 97 0 0.00 48 29 37.66 CTNND2 0 genome.wustl.edu 37 5 11236855 11236855 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 11236855 11236855 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1709 p.A570V 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 44 0 0.00 36 9 19.57 98 0 0.00 75 10 11.76 CHST12 0 genome.wustl.edu 37 7 2473042 2473042 + Silent SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 2473042 2473042 C A SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.768 p.R256 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 tier1 - - 34 0 0.00 42 20 32.26 31 0 0.00 45 11 19.64 ZNF416 0 genome.wustl.edu 37 19 58084054 58084054 + Silent SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 58084054 58084054 T C SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known silent c.1218 p.T406 0.000 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 ZNF416 HGNC ENSG00000083817 tier1 - - 58 0 0.00 71 10 12.35 101 0 0.00 60 13 17.81 ACAN 0 genome.wustl.edu 37 15 89402172 89402172 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 89402172 89402172 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.6356 p.A2119V 0.043 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 27 0 0.00 18 18 50.00 41 0 0.00 32 32 50.00 ARFGEF1 0 genome.wustl.edu 37 8 68179642 68179642 + Missense_Mutation SNP T T G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 8 68179642 68179642 T G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1608 p.E536D 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 33 0 0.00 14 16 53.33 80 0 0.00 46 43 48.31 KC1 0 genome.wustl.edu 37 12 5021875 5021875 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 5021875 5021875 G A SNP KC1 ENST00000382545 human ensembl 74_37 +1 known missense c.1331 p.R444H 1.000 prints_K_chnl_volt-dep_Kv1.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KC1 HGNC ENSG00000111262 tier1 - - 28 0 0.00 9 15 62.50 32 0 0.00 27 21 43.75 UNC13C 0 genome.wustl.edu 37 15 54590064 54590064 + Silent SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 54590064 54590064 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.4044 p.V1348 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 17 0 0.00 11 8 42.11 81 0 0.00 64 31 32.63 PCLO 0 genome.wustl.edu 37 7 82545573 82545573 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 82545573 82545573 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11729 p.E3910V 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 147 0 0.00 149 93 38.43 87 0 0.00 81 56 40.88 TMEM106B 0 genome.wustl.edu 37 7 12271553 12271553 + Silent SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 12271553 12271553 T C SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known silent c.777 p.Y259 0.982 NULL pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 tier1 rs151183990 GMAF=0.0005 30 0 0.00 20 12 37.50 97 0 0.00 66 50 43.10 TUBGCP3 0 genome.wustl.edu 37 13 113213664 113213664 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 13 113213664 113213664 C T SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.302 p.S101N 1.000 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 tier1 - - 51 0 0.00 18 14 43.75 70 0 0.00 35 34 48.57 C1orf65 0 genome.wustl.edu 37 1 223568250 223568250 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 223568250 223568250 C T SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1433 p.A478V 0.997 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 tier1 - - 17 0 0.00 14 12 46.15 21 0 0.00 12 5 29.41 UNC13C 0 genome.wustl.edu 37 15 54590065 54590065 + Nonsense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 54590065 54590065 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.4045 p.E1349* 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 16 0 0.00 10 8 44.44 80 0 0.00 62 31 33.33 LRRC17 0 genome.wustl.edu 37 7 102584860 102584860 + Missense_Mutation SNP T T G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 102584860 102584860 T G SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.1132 p.C378G 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 tier1 - - 43 0 0.00 35 30 46.15 114 0 0.00 104 64 37.87 PRX 0 genome.wustl.edu 37 19 40900053 40900053 + Silent SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 40900053 40900053 G T SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.4206 p.P1402 0.258 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 54 0 0.00 37 5 11.90 27 0 0.00 25 4 13.79 TENM1 0 genome.wustl.edu 37 X 123518624 123518624 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 123518624 123518624 A T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.6157 p.F2053I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 74 0 0.00 49 11 18.33 85 0 0.00 68 8 10.53 RBBP7 0 genome.wustl.edu 37 X 16875794 16875794 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 16875794 16875794 C G SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.520 p.G174R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 tier1 - - 60 0 0.00 48 5 9.43 113 0 0.00 82 24 22.64 NDST4 0 genome.wustl.edu 37 4 115792054 115792054 + Nonsense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 115792054 115792054 A T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known nonsense c.1589 p.L530* 0.536 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 27 0 0.00 17 7 29.17 111 0 0.00 85 17 16.67 SIGLEC7 0 genome.wustl.edu 37 19 51649285 51649285 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 51649285 51649285 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known silent c.934 p.L312 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 60 0 0.00 56 16 22.22 89 0 0.00 62 12 16.22 CRAT 0 genome.wustl.edu 37 9 131862186 131862186 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 131862186 131862186 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.1044 p.G348 0.275 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 - - 49 0 0.00 49 6 10.91 54 0 0.00 60 21 25.93 WFS1 0 genome.wustl.edu 37 4 6293088 6293088 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 6293088 6293088 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.625 p.E209K 0.977 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 tier1 - - 29 0 0.00 19 6 24.00 10 0 0.00 16 5 23.81 PHACTR2 0 genome.wustl.edu 37 6 144104390 144104390 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 144104390 144104390 G A SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1680 p.M560I 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 tier1 - - 24 0 0.00 17 7 29.17 103 0 0.00 92 16 14.81 NFIB 0 genome.wustl.edu 37 9 14120501 14120501 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 14120501 14120501 G A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1183 p.P395S 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_D-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_D-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 108 0 0.00 39 29 42.65 80 0 0.00 17 31 64.58 DH8 0 genome.wustl.edu 37 6 38746237 38746237 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 38746237 38746237 A G SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1385 p.Q462R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 39 0 0.00 34 8 19.05 103 0 0.00 83 17 17.00 SASH1 0 genome.wustl.edu 37 6 148869496 148869496 + Silent SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 148869496 148869496 G T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.3546 p.V1182 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 48 0 0.00 25 16 39.02 77 1 1.28 38 35 47.95 TC2N 0 genome.wustl.edu 37 14 92278695 92278695 + Missense_Mutation SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 14 92278695 92278695 T C SNP TC2N ENST00000340892 human ensembl 74_37 -1 known missense c.262 p.R88G 0.954 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 tier1 - - 65 0 0.00 41 10 19.61 84 0 0.00 73 23 23.23 TNPO1 0 genome.wustl.edu 37 5 72178316 72178316 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 72178316 72178316 G T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.943 p.G315C 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 53 0 0.00 40 6 13.04 47 0 0.00 37 6 13.64 XIRP2 0 genome.wustl.edu 37 2 168099842 168099842 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 168099842 168099842 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1940 p.A647V 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 41 0 0.00 30 5 14.29 80 0 0.00 54 13 19.40 CSF1R 0 genome.wustl.edu 37 5 149450109 149450109 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 149450109 149450109 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1108 p.R370C 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 62 0 0.00 47 20 29.41 46 0 0.00 53 14 20.90 XIRP2 0 genome.wustl.edu 37 2 168099850 168099850 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 168099850 168099850 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1948 p.D650Y 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 41 0 0.00 27 5 15.62 82 0 0.00 58 12 17.14 DOCK6 0 genome.wustl.edu 37 19 11354335 11354335 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 11354335 11354335 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1156 p.R386C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 19 0 0.00 30 6 16.67 13 0 0.00 21 3 12.50 SERINC4 0 genome.wustl.edu 37 15 44088358 44088358 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 44088358 44088358 A T SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.403 p.F135I 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 tier1 - - 49 0 0.00 36 15 29.41 98 0 0.00 81 33 28.95 PHF3 0 genome.wustl.edu 37 6 64422019 64422019 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 64422019 64422019 A G SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.4535 p.N1512S 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 28 0 0.00 22 6 21.43 86 0 0.00 65 13 16.67 SERPINB3 0 genome.wustl.edu 37 18 61328304 61328304 + Silent SNP A A C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 18 61328304 61328304 A C SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.147 p.T49 0.970 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 tier1 - - 128 0 0.00 78 47 37.60 93 0 0.00 46 43 48.31 CLDN1 0 genome.wustl.edu 37 3 190027980 190027980 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 3 190027980 190027980 G T SNP CLDN1 ENST00000295522 human ensembl 74_37 -1 known missense c.451 p.P151T 0.999 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 tier1 - - 38 0 0.00 36 11 23.40 99 0 0.00 68 17 20.00 GABRR1 0 genome.wustl.edu 37 6 89890035 89890035 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 89890035 89890035 C G SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.1122 p.R374S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 - - 63 0 0.00 61 15 19.74 35 0 0.00 20 12 37.50 ANKRD20A11P 0 genome.wustl.edu 37 21 15304557 15304557 + R SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 21 15304557 15304557 C A SNP ANKRD20A11P ENST00000442192 human ensembl 74_37 -1 known rna NULL NULL 0.156 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 107 0 0.00 53 20 27.40 14 0 0.00 13 5 27.78 SREK1 0 genome.wustl.edu 37 5 65475111 65475111 + R SNP A A C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 65475111 65475111 A C SNP SREK1 ENST00000284041 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 39 0 0.00 31 16 34.04 72 0 0.00 59 16 21.33 ENSG00000272268 0 genome.wustl.edu 37 2 6112272 6112272 + Silent SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 6112272 6112272 T A SNP ENSG00000272268 ENST00000391666 human ensembl 74_37 +1 known silent c.216 p.S72 0.003 NULL NULL - no_errors FLJ30594 Uniprot_gn ENSG00000272268 tier1 - - 45 0 0.00 39 11 22.00 88 0 0.00 80 13 13.98 LAMTOR4 0 genome.wustl.edu 37 7 99746558 99746558 + R SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 7 99746558 99746558 C G SNP LAMTOR4 ENST00000460732 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors LAMTOR4 HGNC ENSG00000188186 tier1 - - 92 0 0.00 81 61 42.96 41 0 0.00 19 22 53.66 HTT 0 genome.wustl.edu 37 4 3237472 3237472 + Missense_Mutation SNP G G C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 3237472 3237472 G C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.8752 p.A2918P 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 22 0 0.00 13 4 23.53 19 0 0.00 15 9 37.50 SMYD4 0 genome.wustl.edu 37 17 1686394 1686394 + Silent SNP G G C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 1686394 1686394 G C SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.2196 p.R732 0.989 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 tier1 - - 36 0 0.00 31 6 16.22 104 0 0.00 92 21 18.58 CNGA3 0 genome.wustl.edu 37 2 99013672 99013672 + Missense_Mutation SNP G G C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 99013672 99013672 G C SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.2039 p.G680A 0.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 17 0 0.00 10 4 28.57 78 0 0.00 65 26 28.26 MYH1 0 genome.wustl.edu 37 17 10404994 10404994 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 10404994 10404994 A T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3265 p.F1089I 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 35 0 0.00 65 14 17.72 71 1 1.39 70 27 27.84 NPAS3 0 genome.wustl.edu 37 14 34243561 34243561 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 14 34243561 34243561 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.871 p.R291W 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 55 0 0.00 37 10 20.41 71 0 0.00 65 14 17.72 PTPRH 0 genome.wustl.edu 37 19 55711640 55711640 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 55711640 55711640 C A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.1384 p.A462S 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 98 0 0.00 86 18 17.31 85 0 0.00 75 11 12.79 CNTD1 0 genome.wustl.edu 37 17 40962300 40962300 + R SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 40962300 40962300 G A SNP CNTD1 ENST00000315066 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CNTD1 HGNC ENSG00000176563 tier1 - - 26 0 0.00 28 8 22.22 87 0 0.00 97 11 10.19 KDM3B 0 genome.wustl.edu 37 5 137756482 137756482 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 137756482 137756482 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.3803 p.P1268L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 34 0 0.00 50 7 12.28 63 0 0.00 61 20 24.69 C5 0 genome.wustl.edu 37 9 123722535 123722535 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 123722535 123722535 T A SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.4669 p.I1557F 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 tier1 - - 38 0 0.00 16 7 30.43 87 0 0.00 37 15 28.85 ARAP2 0 genome.wustl.edu 37 4 36166640 36166640 + Missense_Mutation SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 36166640 36166640 T C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.2069 p.K690R 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 33 0 0.00 39 8 17.02 49 0 0.00 57 21 26.92 GPC4 0 genome.wustl.edu 37 X 132458181 132458181 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 132458181 132458181 C A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.703 p.V235F 1.000 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 tier1 - - 26 0 0.00 20 4 16.67 50 0 0.00 23 14 37.84 PITPNM3 0 genome.wustl.edu 37 17 6367059 6367059 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 6367059 6367059 C A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2299 p.V767F 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 42 0 0.00 48 20 29.41 22 0 0.00 36 11 23.40 PEG3 0 genome.wustl.edu 37 19 57333112 57333112 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 57333112 57333112 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.576 p.P192 0.038 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 42 0 0.00 31 9 22.50 88 0 0.00 82 10 10.87 ANK3 0 genome.wustl.edu 37 10 61932115 61932115 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 10 61932115 61932115 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2429 p.S810L 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 41 0 0.00 9 19 67.86 105 1 0.94 29 48 62.34 EML5 0 genome.wustl.edu 37 14 89202895 89202895 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 14 89202895 89202895 T A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.862 p.S288C 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 36 0 0.00 20 6 22.22 107 0 0.00 80 11 12.09 PCDHB4 0 genome.wustl.edu 37 5 140502563 140502563 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 140502563 140502563 G T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.983 p.G328V 0.879 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 15 0 0.00 14 5 26.32 116 0 0.00 112 17 13.18 RIOK2 0 genome.wustl.edu 37 5 96512975 96512975 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 96512975 96512975 C T SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known missense c.343 p.E115K 1.000 pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 tier1 - - 39 0 0.00 20 13 39.39 93 0 0.00 43 40 48.19 AGTR2 0 genome.wustl.edu 37 X 115303840 115303840 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 115303840 115303840 T A SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.307 p.Y103N 0.986 pfam_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 tier1 - - 57 0 0.00 22 10 31.25 87 0 0.00 76 19 20.00 TENM1 0 genome.wustl.edu 37 X 123780640 123780640 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 123780640 123780640 T A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1600 p.T534S 0.997 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 35 0 0.00 22 13 37.14 105 0 0.00 68 38 35.85 IRS1 0 genome.wustl.edu 37 2 227660538 227660538 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 227660538 227660538 C G SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.2917 p.A973P 0.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 28 0 0.00 35 7 16.67 13 0 0.00 13 3 18.75 PRSS35 0 genome.wustl.edu 37 6 84234250 84234250 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 84234250 84234250 C G SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.1090 p.R364G 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 26 0 0.00 13 8 38.10 95 0 0.00 88 20 18.35 MUS81 0 genome.wustl.edu 37 11 65633285 65633285 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 11 65633285 65633285 C T SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known silent c.1509 p.L503 0.966 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_D_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 tier1 - - 26 0 0.00 28 4 12.50 35 0 0.00 41 8 16.33 OR4A5 0 genome.wustl.edu 37 11 51412386 51412386 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 11 51412386 51412386 T A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.10 p.N4Y 0.129 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 18 0 0.00 14 6 30.00 34 0 0.00 23 7 23.33 TFAP2A 0 genome.wustl.edu 37 6 10400725 10400725 + Missense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 6 10400725 10400725 A T SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.981 p.D327E 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 tier1 - - 43 0 0.00 31 7 18.42 90 0 0.00 85 16 15.84 CRB1 0 genome.wustl.edu 37 1 197398674 197398674 + Silent SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 197398674 197398674 G A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.2772 p.E924 0.020 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 59 0 0.00 47 9 16.07 116 0 0.00 73 15 17.05 CEACAM18 0 genome.wustl.edu 37 19 51981777 51981777 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 19 51981777 51981777 C T SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.64 p.L22 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 57 0 0.00 55 14 20.29 32 0 0.00 30 4 11.76 PVRL3 0 genome.wustl.edu 37 3 110912071 110912071 + Missense_Mutation SNP G G C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 3 110912071 110912071 G C SNP PVRL3 ENST00000493615 human ensembl 74_37 +1 putative missense c.1309 p.D437H 0.985 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 tier1 - - 52 0 0.00 40 5 11.11 84 0 0.00 52 18 25.71 PIEZO2 0 genome.wustl.edu 37 18 10789250 10789250 + Nonsense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 18 10789250 10789250 C A SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known nonsense c.1996 p.E666* 0.647 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 91 0 0.00 60 35 36.84 55 0 0.00 64 29 31.18 BANK1 0 genome.wustl.edu 37 4 102791783 102791783 + Silent SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 102791783 102791783 A T SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known silent c.885 p.S295 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 46 0 0.00 16 14 46.67 115 0 0.00 59 28 31.82 SPOCD1 0 genome.wustl.edu 37 1 32256805 32256805 + Missense_Mutation SNP T T A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 1 32256805 32256805 T A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.3050 p.K1017M 0.396 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 tier1 - - 30 0 0.00 3 7 70.00 89 0 0.00 16 16 50.00 CAMTA2 0 genome.wustl.edu 37 17 4884615 4884615 + Missense_Mutation SNP T T C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 4884615 4884615 T C SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.674 p.E225G 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 70 0 0.00 81 10 10.99 85 0 0.00 110 15 12.00 WDFY2 0 genome.wustl.edu 37 13 52277758 52277758 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 13 52277758 52277758 C T SNP WDFY2 ENST00000298125 human ensembl 74_37 +1 known silent c.306 p.N102 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 tier1 - - 48 0 0.00 9 9 50.00 65 0 0.00 15 9 37.50 APOB 0 genome.wustl.edu 37 2 21228405 21228405 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 21228405 21228405 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11335 p.F3779L 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 24 0 0.00 10 10 50.00 111 0 0.00 71 33 31.73 MALAT1 0 genome.wustl.edu 37 11 65273644 65273648 + R DEL CTTTG CTTTG - TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 CTTTG CTTTG CTTTG - CTTTG CTTTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 11 65273644 65273648 CTTTG - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000:1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 82 0 0.00 41 25 37.88 82 0 0.00 41 25 37.88 MYH2 0 genome.wustl.edu 37 17 10443920 10443921 + Frame_Shift_Ins INS - - TG TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 - - - TG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 10443920 10443921 - TG INS MYH2 ENST00000245503 human ensembl 74_37 -1 known frame_shift_ins c.999_998 p.M333fs 0.990:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 50 0 0.00 51 7 12.07 67 0 0.00 67 12 15.19 RBM22 0 genome.wustl.edu 37 5 150078185 150078185 + Frame_Shift_Del DEL G G - TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 150078185 150078185 G - DEL RBM22 ENST00000199814 human ensembl 74_37 -1 known frame_shift_del c.147 p.R50fs 1.000 superfamily_Znf_CCHC pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM22 HGNC ENSG00000086589 tier1 37 0 0.00 29 5 14.71 88 0 0.00 83 11 11.70 COL20A1 0 genome.wustl.edu 37 20 61956638 61956638 + Silent SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 20 61956638 61956638 C A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.3312 p.P1104 0.855 pfam_Collagen 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 COL20A1 HGNC ENSG00000101203 tier1 - - 26 0 0.00 11 8 42.11 5 0 0.00 2 4 66.67 TMEM132C 0 genome.wustl.edu 37 12 129190514 129190514 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 129190514 129190514 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.3001 p.G1001R 0.996 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 52 0 0.00 41 20 32.79 18 0 0.00 9 3 25.00 TCEB3CL 0 genome.wustl.edu 37 18 44549187 44549187 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 18 44549187 44549187 G A SNP TCEB3CL ENST00000451265 human ensembl 74_37 -1 known missense c.1112 p.T371M 0.212 pfam_R_pol_II_trans_fac_SIII_A pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL HGNC ENSG00000234298 tier1 - - 160 0 0.00 115 12 9.45 92 0 0.00 135 14 9.40 GLE1 0 genome.wustl.edu 37 9 131296042 131296042 + Silent SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 9 131296042 131296042 A G SNP GLE1 ENST00000309971 human ensembl 74_37 +1 known silent c.1458 p.K486 1.000 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 tier1 - - 62 0 0.00 59 6 9.23 77 0 0.00 80 6 6.98 DDX60 0 genome.wustl.edu 37 4 169227760 169227760 + Missense_Mutation SNP A A G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 4 169227760 169227760 A G SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.376 p.C126R 0.990 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 29 0 0.00 40 4 9.09 113 0 0.00 99 10 9.17 PELP1 0 genome.wustl.edu 37 17 4578833 4578833 + Missense_Mutation SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 4578833 4578833 G A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.1325 p.T442I 0.001 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 tier1 - - 57 0 0.00 68 6 8.11 153 0 0.00 163 8 4.68 ANKRD36C 0 genome.wustl.edu 37 2 96648006 96648006 + Silent SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 96648006 96648006 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.591 p.G197 0.078 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 70 0 0.00 71 7 8.97 31 0 0.00 39 4 9.30 ZMAT1 0 genome.wustl.edu 37 X 101153192 101153192 + Missense_Mutation SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 101153192 101153192 C A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.230 p.G77V 1.000 smart_Znf_U1,smart_Znf_C2H2-like superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 47 0 0.00 24 6 20.00 90 0 0.00 69 5 6.76 SLC1A3 0 genome.wustl.edu 37 5 36677165 36677165 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 5 36677165 36677165 G T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.739 p.V247F 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 tier1 - - 71 0 0.00 68 7 9.33 93 0 0.00 90 8 8.08 GDI1 0 genome.wustl.edu 37 X 153668462 153668462 + Missense_Mutation SNP C C G TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 X 153668462 153668462 C G SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.563 p.A188G 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 tier1 - - 57 0 0.00 38 9 19.15 42 1 2.33 42 13 23.21 ENSG00000221104 0 genome.wustl.edu 37 12 8519353 8519353 + R SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 8519353 8519353 C A SNP ENSG00000221104 ENST00000408177 human ensembl 74_37 +1 novel rna NULL NULL 0.342 - - - no_errors AC092865.1 Clone_based_ensembl_gene ENSG00000221104 tier1 - - 188 0 0.00 188 17 8.29 7 0 0.00 8 0 0.00 SP140 0 genome.wustl.edu 37 2 231152614 231152614 + Silent SNP G G A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 231152614 231152614 G A SNP SP140 ENST00000392045 human ensembl 74_37 +1 known silent c.1653 p.K551 0.004 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 - - 27 0 0.00 22 15 40.54 18 0 0.00 1 0 0.00 USP6 0 genome.wustl.edu 37 17 5041559 5041559 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 17 5041559 5041559 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.1069 p.P357S 1.000 NULL pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 171 0 0.00 171 24 12.31 6 0 0.00 4 0 0.00 WIPF1 0 genome.wustl.edu 37 2 175436734 175436734 + Missense_Mutation SNP G G T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 2 175436734 175436734 G T SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.799 p.P267T 0.764 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 tier1 - - 45 0 0.00 40 9 18.37 33 0 0.00 5 1 16.67 DNM1P47 0 genome.wustl.edu 37 15 102291831 102291831 + R SNP C C A TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 15 102291831 102291831 C A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 209 0 0.00 208 29 12.24 0 0 0.00 0 0 0.00 VPS37B 0 genome.wustl.edu 37 12 123351947 123351947 + Missense_Mutation SNP G G C TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 12 123351947 123351947 G C SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known missense c.574 p.P192A 0.960 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 tier1 - - 16 0 0.00 18 11 37.93 0 0 0.00 0 0 0.00 NINL 0 genome.wustl.edu 37 20 25457263 25457263 + Silent SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 20 25457263 25457263 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.2664 p.T888 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 27 0 0.00 13 9 40.91 4 0 0.00 0 2 100.00 MTMR3 0 genome.wustl.edu 37 22 30387566 30387566 + Nonsense_Mutation SNP A A T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cdbbd701-9c05-4f9e-923d-06039dd8a04d 833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4 22 30387566 30387566 A T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known nonsense c.367 p.K123* 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 56 0 0.00 33 5 13.16 59 0 0.00 47 3 6.00