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 ENSG00000260213 0 genome.wustl.edu 37 16 81058170 81058171 + R INS - - CAACTCAGC TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 16 81058170 81058171 - CAACTCAGC INS ENSG00000260213 ENST00000561808 human ensembl 74_37 -1 known rna NULL NULL 0.047:0.001 - - - no_errors RP11-303E16.3 Clone_based_vega_gene ENSG00000260213 tier1 VASP 0 genome.wustl.edu 37 19 46027364 46027364 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 19 46027364 46027364 G A SNP VASP ENST00000245932 human ensembl 74_37 +1 known missense c.920 p.R307Q 1.000 pirsf_Vasodilator_phosphoprotein pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors VASP HGNC ENSG00000125753 tier1 - - 36 0 0.00 30 19 38.78 FARSB 0 genome.wustl.edu 37 2 223497942 223497942 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 2 223497942 223497942 G T SNP FARSB ENST00000281828 human ensembl 74_37 -1 known missense c.691 p.L231I 1.000 pfam_B3/B4_tR-bd,superfamily_Phe-tR_synthase_B3/B4,smart_B3/B4_tR-bd,tigrfam_Phe-tR-synth_IIc_bsu_arc pfam_B3/B4_tR-bd,pfam_tR_synthase_B5-dom,superfamily_D-bd_dom_put,superfamily_Phe-tR_synthase_B3/B4,smart_B3/B4_tR-bd,smart_tR_synthase_B5-dom,tigrfam_Phe-tR-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 tier1 - - 31 0 0.00 36 4 10.00 ENSG00000242474 0 genome.wustl.edu 37 7 149458 149459 + R INS - - CTCCT TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 7 149458 149459 - CTCCT INS ENSG00000242474 ENST00000497320 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors AC093627.9 Clone_based_vega_gene ENSG00000242474 tier1 TIG 0 genome.wustl.edu 37 6 54245359 54245359 + Missense_Mutation SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 54245359 54245359 A G SNP TIG ENST00000259782 human ensembl 74_37 +1 known missense c.1286 p.E429G 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TIG HGNC ENSG00000137251 tier1 - - 79 0 0.00 33 19 36.54 TMTC1 0 genome.wustl.edu 37 12 29936515 29936515 + Missense_Mutation SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 12 29936515 29936515 A G SNP TMTC1 ENST00000539277 human ensembl 74_37 -1 putative missense c.170 p.I57T 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 42 0 0.00 59 11 15.71 ULK4 0 genome.wustl.edu 37 3 41938472 41938472 + Frame_Shift_Del DEL C C - TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 3 41938472 41938472 C - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1372 p.D458fs 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 10 0 0.00 11 8 42.11 RHBG 0 genome.wustl.edu 37 1 156347271 156347271 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 156347271 156347271 G A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.367 p.V123M 0.298 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 tier1 - - 91 0 0.00 61 36 37.11 CENPF 0 genome.wustl.edu 37 1 214794049 214794049 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 214794049 214794049 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.625 p.R209W 0.980 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 rs148125567 - 50 0 0.00 34 33 49.25 NIPAL3 0 genome.wustl.edu 37 1 24776053 24776053 + Silent SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 24776053 24776053 C T SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known silent c.477 p.H159 0.549 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 tier1 - - 72 0 0.00 8 36 81.82 DENND2C 0 genome.wustl.edu 37 1 115127989 115127989 + R DEL A A - TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 115127989 115127989 A - DEL DENND2C ENST00000495031 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DENND2C HGNC ENSG00000175984 tier1 17 0 0.00 17 4 19.05 ITPR2 0 genome.wustl.edu 37 12 26839531 26839531 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 12 26839531 26839531 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.1031 p.R344H 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 37 0 0.00 27 22 44.90 FAM47E 0 genome.wustl.edu 37 4 77184926 77184926 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 4 77184926 77184926 G T SNP FAM47E ENST00000424749 human ensembl 74_37 +1 known missense c.490 p.D164Y 0.980 NULL superfamily_eIF4G1_eIF4E-bd - no_errors FAM47E HGNC ENSG00000189157 tier1 - - 38 0 0.00 32 4 11.11 VAV3 0 genome.wustl.edu 37 1 108293737 108293737 + Splice_Site SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 108293737 108293737 A G SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known splice_site c.1259+2 e13+2 1.000 - - - no_errors VAV3 HGNC ENSG00000134215 tier1 - - 39 0 0.00 18 23 56.10 FLJ36000 0 genome.wustl.edu 37 17 21911266 21911267 + R INS - - TG TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 17 21911266 21911267 - TG INS FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.024 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 10 0 0.00 10 9 47.37 HLA-DRB6 0 genome.wustl.edu 37 6 32520830 32520844 + R DEL AGGAGTCCAGCGCAG AGGAGTCCAGCGCAG - TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 AGGAGTCCAGCGCAG AGGAGTCCAGCGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 32520830 32520844 AGGAGTCCAGCGCAG - DEL HLA-DRB6 ENST00000411500 human ensembl 74_37 -1 known rna NULL NULL 0.975:0.991:0.996:0.997:0.995:0.988:0.985:0.943:0.810:0.673:0.530:0.488:0.478:0.468:0.458 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 tier1 PTPRS 0 genome.wustl.edu 37 19 5219990 5219990 + Missense_Mutation SNP T T C TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 19 5219990 5219990 T C SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.3728 p.Y1243C 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 110 0 0.00 89 14 13.59 ADAMTS17 0 genome.wustl.edu 37 15 100739618 100739618 + Nonsense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 15 100739618 100739618 G T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known nonsense c.1086 p.Y362* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 52 0 0.00 62 11 15.07 OPN5 0 genome.wustl.edu 37 6 47762984 47762984 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 47762984 47762984 G T SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known missense c.441 p.K147N 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 tier1 - - 51 0 0.00 24 25 50.00 ENSG00000267387 0 genome.wustl.edu 37 19 10200415 10200415 + R SNP G G C TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 19 10200415 10200415 G C SNP ENSG00000267387 ENST00000589622 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors CTD-2240E14.4 Clone_based_vega_gene ENSG00000267387 tier1 - - 36 0 0.00 29 23 44.23 ENSG00000255384 0 genome.wustl.edu 37 11 118305414 118305414 + Missense_Mutation SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 11 118305414 118305414 A G SNP ENSG00000255384 ENST00000532619 human ensembl 74_37 -1 putative missense c.407 p.L136P 0.958 NULL NULL - no_errors RP11-770J1.4 Clone_based_vega_gene ENSG00000255384 tier1 - - 54 0 0.00 45 6 11.76 CYP2C9 0 genome.wustl.edu 37 10 96740982 96740982 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 10 96740982 96740982 G A SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.1004 p.R335Q 0.190 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 tier1 - - 68 0 0.00 37 21 36.21 VPS41 0 genome.wustl.edu 37 7 38813817 38813817 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 7 38813817 38813817 G T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.910 p.L304M 0.990 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 tier1 - - 50 0 0.00 40 4 9.09 ABCC2 0 genome.wustl.edu 37 10 101591500 101591500 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 10 101591500 101591500 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.3016 p.D1006Y 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 68 0 0.00 44 4 8.33 SNED1 0 genome.wustl.edu 37 2 242007218 242007218 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 2 242007218 242007218 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.3050 p.T1017M 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 40 0 0.00 28 20 41.67 MBNL1 0 genome.wustl.edu 37 3 152017897 152017898 + R INS - - T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 3 152017897 152017898 - T INS MBNL1 ENST00000461436 human ensembl 74_37 +1 putative rna NULL NULL 0.829:0.026 - - - no_errors MBNL1 HGNC ENSG00000152601 tier1 15 0 0.00 31 3 8.82 C10orf118 0 genome.wustl.edu 37 10 115923008 115923008 + Missense_Mutation SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 10 115923008 115923008 A G SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.20 p.I7T 0.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 tier1 - - 22 0 0.00 8 11 57.89 MDN1 0 genome.wustl.edu 37 6 90468585 90468585 + Frame_Shift_Del DEL A A - TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 90468585 90468585 A - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.2555 p.L852fs 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 47 0 0.00 19 11 36.67 TMBIM1 0 genome.wustl.edu 37 2 219142143 219142143 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 2 219142143 219142143 C T SNP TMBIM1 ENST00000258412 human ensembl 74_37 -1 known missense c.585 p.M195I 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM1 HGNC ENSG00000135926 tier1 - - 36 0 0.00 21 4 16.00 OR14C36 0 genome.wustl.edu 37 1 248512774 248512774 + Missense_Mutation SNP C C A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 248512774 248512774 C A SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known missense c.698 p.T233K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 tier1 - - 21 0 0.00 22 10 31.25 STIP1 0 genome.wustl.edu 37 11 63965443 63965443 + Silent SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 11 63965443 63965443 G A SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known silent c.1020 p.Q340 0.997 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 tier1 - - 50 0 0.00 42 4 8.70 EIF5 0 genome.wustl.edu 37 14 103800843 103800844 + R INS - - CTCGGA TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 14 103800843 103800844 - CTCGGA INS EIF5 ENST00000560200 human ensembl 74_37 +1 known rna NULL NULL 0.096:0.001 - - - no_errors EIF5 HGNC ENSG00000100664 tier1 NDUFAF6 0 genome.wustl.edu 37 8 96047806 96047807 + Splice_Site INS - - AA TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 8 96047806 96047807 - AA INS NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known splice_site_ins c.420+2_420+1 e3+2 1.000:0.999 - - - no_errors NDUFAF6 HGNC ENSG00000156170 tier1 33 0 0.00 42 5 10.64 CTNND1 0 genome.wustl.edu 37 11 57575904 57575904 + Missense_Mutation SNP C C G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 11 57575904 57575904 C G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2134 p.L712V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 79 0 0.00 48 18 27.27 PRPF8 0 genome.wustl.edu 37 17 1559969 1559969 + Silent SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 17 1559969 1559969 G T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.5592 p.T1864 0.996 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 38 0 0.00 24 4 14.29 NEFM 0 genome.wustl.edu 37 8 24775542 24775542 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 8 24775542 24775542 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.2174 p.P725L 0.379 NULL pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 - - 32 0 0.00 20 7 25.93 ZNF284 0 genome.wustl.edu 37 19 44590261 44590261 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 19 44590261 44590261 G T SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.630 p.K210N 0.888 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 ZNF284 HGNC ENSG00000186026 tier1 - - 36 0 0.00 33 4 10.81 PRRT1 0 genome.wustl.edu 37 6 32118219 32118219 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 32118219 32118219 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known missense c.484 p.G162S 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 29 0 0.00 10 11 52.38 CTN2 0 genome.wustl.edu 37 2 80136835 80136835 + Missense_Mutation SNP C C T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 2 80136835 80136835 C T SNP CTN2 ENST00000361291 human ensembl 74_37 +1 known missense c.1070 p.T357M 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 - - 24 0 0.00 18 18 50.00 TBC1D15 0 genome.wustl.edu 37 12 72287041 72287041 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 12 72287041 72287041 G T SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.594 p.Q198H 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 30 0 0.00 18 3 14.29 ADC 0 genome.wustl.edu 37 1 33585656 33585656 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 33585656 33585656 G A SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.1316 p.R439Q 0.068 superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 tier1 - - 49 0 0.00 21 17 44.74 PCDHB7 0 genome.wustl.edu 37 5 140553042 140553042 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 5 140553042 140553042 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.626 p.S209N 0.018 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 55 0 0.00 61 6 8.96 YAP1 0 genome.wustl.edu 37 11 101985018 101985018 + Silent SNP C C G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 11 101985018 101985018 C G SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known silent c.465 p.P155 0.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 tier1 rs143682472 - 58 0 0.00 52 5 8.77 BTC 0 genome.wustl.edu 37 4 75673316 75673317 + In_Frame_Ins INS - - TTCTTCTTCTTCTTCTTC TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 4 75673316 75673317 - TTCTTCTTCTTCTTCTTC INS BTC ENST00000395743 human ensembl 74_37 -1 known in_frame_ins c.472_471 p.157in_frame_insEEEEEE 1.000:1.000 NULL pfscan_EG-like_dom - no_errors BTC HGNC ENSG00000174808 tier1 PDHA2 0 genome.wustl.edu 37 4 96761780 96761780 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 4 96761780 96761780 G T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.479 p.G160V 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 51 0 0.00 37 14 27.45 SLC31A2 0 genome.wustl.edu 37 9 115920344 115920344 + Missense_Mutation SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 9 115920344 115920344 A G SNP SLC31A2 ENST00000374220 human ensembl 74_37 +1 known missense c.94 p.R32G 0.028 NULL NULL - no_errors SLC31A2 HGNC ENSG00000136867 tier1 - - 23 0 0.00 16 5 23.81 FLJ22184 0 genome.wustl.edu 37 19 7935863 7935863 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 19 7935863 7935863 G T SNP FLJ22184 ENST00000539422 human ensembl 74_37 -1 known missense c.2267 p.P756H 0.136 NULL NULL - no_errors CTD-3193O13.9 Clone_based_vega_gene ENSG00000183248 tier1 rs5027409 - 28 0 0.00 37 6 13.95 GFRAL 0 genome.wustl.edu 37 6 55263988 55263988 + Silent SNP C C A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 6 55263988 55263988 C A SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known silent c.963 p.T321 0.000 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 tier1 - - 45 0 0.00 51 5 8.93 HS3ST6 0 genome.wustl.edu 37 16 1962101 1962101 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 16 1962101 1962101 G T SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known missense c.519 p.D173E 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 tier1 - - 95 0 0.00 66 51 43.59 ELF3 0 genome.wustl.edu 37 1 201981253 201981253 + Missense_Mutation SNP G G A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 201981253 201981253 G A SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.332 p.R111H 0.951 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 tier1 - - 39 0 0.00 38 25 39.68 ENSG00000254665 0 genome.wustl.edu 37 11 8715262 8715263 + R INS - - CAGG TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 11 8715262 8715263 - CAGG INS ENSG00000254665 ENST00000529883 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.136 - - - no_errors RP11-152H18.3 Clone_based_vega_gene ENSG00000254665 tier1 10 0 0.00 9 6 40.00 PADI1 0 genome.wustl.edu 37 1 17555167 17555167 + Missense_Mutation SNP C C A TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 c8268090-df42-4320-b19f-48c377fac5d9 3a65b90b-a76d-441f-bf6e-bf3198d92685 1 17555167 17555167 C A SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.700 p.L234M 0.008 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 74 0 0.00 10 37 78.72