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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACTN4 0 genome.wustl.edu 37 19 39191311 39191311 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 39191311 39191311 C A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.234 p.F78L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 55 0 0.00 35 4 10.26 AGPAT9 0 genome.wustl.edu 37 4 84508432 84508432 + Silent SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 84508432 84508432 C A SNP AGPAT9 ENST00000264409 human ensembl 74_37 +1 known silent c.504 p.I168 0.976 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 tier1 - - 95 0 0.00 55 4 6.78 ANGPTL3 0 genome.wustl.edu 37 1 63069970 63069970 + RNA SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 63069970 63069970 C A SNP ANGPTL3 ENST00000493994 human ensembl 74_37 +1 putative rna NULL NULL 0.022 - - - no_errors ANGPTL3 HGNC ENSG00000132855 tier1 - - 46 0 0.00 29 3 9.38 ANKRD32 0 genome.wustl.edu 37 5 94005956 94005956 + Nonsense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 94005956 94005956 G T SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known nonsense c.1633 p.E545* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 46 0 0.00 40 3 6.98 APBB1 0 genome.wustl.edu 37 11 6417032 6417032 + Missense_Mutation SNP A A G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 6417032 6417032 A G SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.1949 p.V650A 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 tier1 - - 24 0 0.00 21 6 22.22 ARHGAP36 0 genome.wustl.edu 37 X 130218356 130218356 + Silent SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 130218356 130218356 T C SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.723 p.A241 0.800 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 48 0 0.00 28 6 17.65 ARHGEF4 0 genome.wustl.edu 37 2 131704257 131704257 + Nonstop_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 131704257 131704257 G T SNP ARHGEF4 ENST00000409359 human ensembl 74_37 +1 putative nonstop c.3044 p.*1015L 0.101 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 60 0 0.00 34 4 10.53 ATP10B 0 genome.wustl.edu 37 5 159996679 159996679 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 159996679 159996679 G A SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.3762 p.H1254 0.101 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 33 0 0.00 35 2 5.41 ATP12A 0 genome.wustl.edu 37 13 25280563 25280563 + Nonsense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 13 25280563 25280563 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known nonsense c.2149 p.Q717* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 tier1 - - 59 0 0.00 16 10 38.46 ATRNL1 0 genome.wustl.edu 37 10 117154258 117154258 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 117154258 117154258 C A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3265 p.Q1089K 1.000 smart_EGF_laminin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 62 0 0.00 64 4 5.88 BAHCC1 0 genome.wustl.edu 37 17 79411578 79411578 + Frame_Shift_Del DEL G G - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 79411578 79411578 G 0 DEL BAHCC1 ENST00000307745 human ensembl 74_37 +1 known frame_shift_del c.2496 p.H835fs 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 21 0 0.00 4 2 33.33 BTBD19 0 genome.wustl.edu 37 1 45274534 45274534 + Frame_Shift_Del DEL T T - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 45274534 45274534 T - DEL BTBD19 ENST00000450269 human ensembl 74_37 +1 known frame_shift_del c.42 p.S16fs 0.568 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD19 HGNC ENSG00000222009 tier1 52 0 0.00 29 3 9.38 BTBD7 0 genome.wustl.edu 37 14 93723588 93723588 + Nonsense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 14 93723588 93723588 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known nonsense c.1561 p.R521* 1.000 smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 - - 100 0 0.00 53 4 7.02 C10orf128 0 genome.wustl.edu 37 10 50375962 50375962 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 50375962 50375962 G T SNP C10orf128 ENST00000374151 human ensembl 74_37 -1 known missense c.89 p.A30D 0.002 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 tier1 - - 38 0 0.00 17 5 22.73 C19orf68 0 genome.wustl.edu 37 19 48699110 48699110 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 48699110 48699110 G A SNP C19orf68 ENST00000328759 human ensembl 74_37 +1 known missense c.1789 p.V597M 0.007 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 tier1 - - 143 0 0.00 75 20 21.05 CAD 0 genome.wustl.edu 37 2 27446585 27446585 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 27446585 27446585 G T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.964 p.G322C 1.000 pfam_GATASE,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 27 0 0.00 32 2 5.88 CATSPER2P1 0 genome.wustl.edu 37 15 44037277 44037277 + RNA SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 44037277 44037277 G T SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.802 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 88 0 0.00 62 4 6.06 CD46 0 genome.wustl.edu 37 1 207930538 207930538 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 207930538 207930538 G A SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.277 p.A93T 0.000 pirsf_M_CF_CD46,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 51 0 0.00 25 3 10.71 CDH12 0 genome.wustl.edu 37 5 21751951 21751951 + Silent SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 21751951 21751951 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.2280 p.E760 0.265 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 100 0 0.00 51 5 8.93 CDH6 0 genome.wustl.edu 37 5 31299614 31299614 + Missense_Mutation SNP G G C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 31299614 31299614 G C SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.687 p.R229S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 84 0 0.00 50 13 20.63 CDKN2AIPNL 0 genome.wustl.edu 37 5 133747417 133747417 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 133747417 133747417 G A SNP CDKN2AIPNL ENST00000458198 human ensembl 74_37 -1 known silent c.129 p.F43 1.000 pfam_DUF3469 pfam_DUF3469 - no_errors CDKN2AIPNL HGNC ENSG00000237190 tier1 - - 55 0 0.00 30 7 18.92 CHCHD3 0 genome.wustl.edu 37 7 132754950 132754950 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 132754950 132754950 G T SNP CHCHD3 ENST00000423635 human ensembl 74_37 -1 known missense c.121 p.P41T 1.000 pfam_DUF737 pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 tier1 - - 61 0 0.00 22 3 12.00 CHD2 0 genome.wustl.edu 37 15 93524607 93524607 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 93524607 93524607 G T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.2986 p.D996Y 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 80 0 0.00 55 4 6.78 CHD5 0 genome.wustl.edu 37 1 6211155 6211155 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 6211155 6211155 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.931 p.V311M 0.892 superfamily_Znf_FYVE_PHD pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 32 0 0.00 23 7 23.33 CHRM2 0 genome.wustl.edu 37 7 136700565 136700565 + Missense_Mutation SNP A A G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 136700565 136700565 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.953 p.E318G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 58 0 0.00 34 7 17.07 CMC1 0 genome.wustl.edu 37 3 28357823 28357823 + Splice_Site SNP G G C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 3 28357823 28357823 G C SNP CMC1 ENST00000466830 human ensembl 74_37 +1 known splice_site c.110-1 e3-1 1.000 - - - no_errors CMC1 HGNC ENSG00000187118 tier1 - - 139 0 0.00 72 13 15.29 COLEC12 0 genome.wustl.edu 37 18 346460 346460 + Missense_Mutation SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 346460 346460 T C SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1162 p.T388A 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 149 0 0.00 76 4 5.00 CREB5 0 genome.wustl.edu 37 7 28450121 28450121 + RNA SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 28450121 28450121 G A SNP CREB5 ENST00000482692 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CREB5 HGNC ENSG00000146592 tier1 - - 75 0 0.00 26 5 16.13 CTTNBP2 0 genome.wustl.edu 37 7 117501265 117501265 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 117501265 117501265 G A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.187 p.R63W 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 tier1 - - 21 0 0.00 13 5 27.78 CUL4B 0 genome.wustl.edu 37 X 119668405 119668405 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 119668405 119668405 G T SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.2251 p.L751M 0.991 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 tier1 - - 77 0 0.00 74 4 5.13 CXCR1 0 genome.wustl.edu 37 2 219029248 219029248 + Silent SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 219029248 219029248 C A SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known silent c.687 p.L229 0.951 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 60 0 0.00 57 4 6.56 CYLC1 0 genome.wustl.edu 37 X 83127967 83127967 + Missense_Mutation SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 83127967 83127967 T G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.251 p.I84S 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 55 0 0.00 40 16 28.07 DAPK1 0 genome.wustl.edu 37 9 90321986 90321986 + Missense_Mutation SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 9 90321986 90321986 T G SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.4075 p.L1359V 0.963 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 117 0 0.00 30 6 16.67 DCHS1 0 genome.wustl.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 6662746 6662748 CAG - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known in_frame_del c.99_97 p.L33in_frame_del 1.000:1.000:1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 54 0 0.00 45 6 11.76 DDAH1 0 genome.wustl.edu 37 1 85787017 85787017 + RNA SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 85787017 85787017 A C SNP DDAH1 ENST00000483110 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 92 0 0.00 53 5 8.62 DEPTOR 0 genome.wustl.edu 37 8 120977623 120977623 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 8 120977623 120977623 C T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.577 p.L193F 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 20 0 0.00 9 2 18.18 DMAP1 0 genome.wustl.edu 37 1 44686001 44686001 + RNA SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 44686001 44686001 G T SNP DMAP1 ENST00000494092 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 32 0 0.00 27 6 17.65 DNAH14 0 genome.wustl.edu 37 1 225534207 225534207 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 225534207 225534207 G A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.10868 p.R3623Q 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 84 0 0.00 62 4 6.06 DNMBP 0 genome.wustl.edu 37 10 101715538 101715538 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 101715538 101715538 C T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1693 p.G565R 0.022 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 90 0 0.00 59 4 6.35 DOCK2 0 genome.wustl.edu 37 5 169412843 169412843 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 169412843 169412843 G T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2910 p.M970I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 81 0 0.00 76 4 5.00 DSG1 0 genome.wustl.edu 37 18 28916468 28916468 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 28916468 28916468 G A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.1157 p.R386H 0.924 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 87 0 0.00 65 6 8.45 DSG3 0 genome.wustl.edu 37 18 29056028 29056028 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 29056028 29056028 G T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.2805 p.E935D 0.862 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 33 0 0.00 38 2 5.00 EBF3 0 genome.wustl.edu 37 10 131757221 131757221 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 131757221 131757221 C T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.462 p.L154 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 133 0 0.00 88 5 5.38 EMILIN1 0 genome.wustl.edu 37 2 27308035 27308035 + Frame_Shift_Del DEL G G - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 27308035 27308035 G - DEL EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_del c.2583 p.A863fs 0.887 pfam_Collagen pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 tier1 35 0 0.00 32 2 5.88 ENSG00000214105 0 genome.wustl.edu 37 17 77681216 77681216 + RNA SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 77681216 77681216 G T SNP ENSG00000214105 ENST00000397549 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene ENSG00000214105 tier1 - - 212 0 0.00 120 18 13.04 ENSG00000221246 0 genome.wustl.edu 37 12 111070425 111070425 + RNA SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 111070425 111070425 A C SNP ENSG00000221246 ENST00000408319 human ensembl 74_37 +1 novel rna NULL NULL 0.009 - - - no_errors AC144522.1 Clone_based_ensembl_gene ENSG00000221246 tier1 - - 60 0 0.00 50 12 19.35 ENSG00000243008 0 genome.wustl.edu 37 13 25171389 25171389 + RNA DEL A A - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 13 25171389 25171389 A - DEL ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 tier1 37 0 0.00 34 2 5.56 ENSG00000248544 0 genome.wustl.edu 37 5 156811453 156811453 + RNA SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 156811453 156811453 G A SNP ENSG00000248544 ENST00000508443 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-47B11.3 Clone_based_vega_gene ENSG00000248544 tier1 - - 89 0 0.00 36 4 10.00 ENSG00000266257 0 genome.wustl.edu 37 X 30333279 30333280 + RNA INS - - C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 30333279 30333280 - C INS ENSG00000266257 ENST00000582731 human ensembl 74_37 -1 novel rna NULL NULL 0.014:0.011 - - - no_errors AC005926.1 Clone_based_ensembl_gene ENSG00000266257 tier1 15 0 0.00 5 2 28.57 EOMES 0 genome.wustl.edu 37 3 27763406 27763408 + In_Frame_Del DEL GCG GCG - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 3 27763406 27763408 GCG 0 DEL EOMES ENST00000449599 human ensembl 74_37 -1 known in_frame_del c.380_378 p.A130in_frame_del 0.013:0.007:0.006 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 12 0 0.00 4 2 33.33 FAHD2B 0 genome.wustl.edu 37 2 97751910 97751910 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 97751910 97751910 G A SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.488 p.A163V 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 tier1 - - 88 0 0.00 51 9 15.00 FAM160B2 0 genome.wustl.edu 37 8 21959806 21959806 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 8 21959806 21959806 C T SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known silent c.1972 p.L658 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 tier1 - - 85 0 0.00 56 12 17.65 FAM189A1 0 genome.wustl.edu 37 15 29415678 29415678 + Missense_Mutation SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 29415678 29415678 T C SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known missense c.1484 p.K495R 1.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 - - 95 0 0.00 50 7 12.28 FRMPD2 0 genome.wustl.edu 37 10 49367277 49367277 + RNA SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 49367277 49367277 T C SNP FRMPD2 ENST00000463706 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 126 0 0.00 80 15 15.79 FRYL 0 genome.wustl.edu 37 4 48584704 48584704 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 48584704 48584704 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1796 p.T599N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 57 0 0.00 54 4 6.90 FUZ 0 genome.wustl.edu 37 19 50310555 50310555 + Frame_Shift_Del DEL C C - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 50310555 50310555 C - DEL FUZ ENST00000313777 human ensembl 74_37 -1 known frame_shift_del c.1110 p.T371fs 0.035 NULL NULL - no_errors FUZ HGNC ENSG00000010361 tier1 53 0 0.00 30 4 11.76 GAB1 0 genome.wustl.edu 37 4 144354697 144354697 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 144354697 144354697 G A SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known missense c.421 p.A141T 0.040 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 tier1 - - 74 0 0.00 27 9 25.00 GGTLC3 0 genome.wustl.edu 37 22 20366476 20366476 + Silent SNP G G C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 22 20366476 20366476 G C SNP GGTLC3 ENST00000404912 human ensembl 74_37 -1 known silent c.570 p.T190 0.470 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC3 HGNC ENSG00000183038 tier1 - - 76 0 0.00 58 19 24.68 GHDC 0 genome.wustl.edu 37 17 40342279 40342279 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 40342279 40342279 G T SNP GHDC ENST00000301671 human ensembl 74_37 -1 known missense c.1298 p.A433E 0.120 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 49 0 0.00 38 2 5.00 GNAI2 0 genome.wustl.edu 37 3 50294505 50294505 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 3 50294505 50294505 G A SNP GNAI2 ENST00000313601 human ensembl 74_37 +1 known missense c.860 p.C287Y 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI2 HGNC ENSG00000114353 tier1 - - 25 0 0.00 22 8 26.67 GNB2L1 0 genome.wustl.edu 37 5 180670803 180670803 + RNA SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 180670803 180670803 C T SNP GNB2L1 ENST00000503170 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors GNB2L1 HGNC ENSG00000204628 tier1 - - 77 0 0.00 38 4 9.52 GPR133 0 genome.wustl.edu 37 12 131439027 131439027 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 131439027 131439027 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.17 p.R6Q 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 tier1 - - 88 0 0.00 54 9 14.29 GPRC6A 0 genome.wustl.edu 37 6 117127659 117127659 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 6 117127659 117127659 G A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known silent c.1209 p.L403 0.113 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 97 0 0.00 73 8 9.88 GRIA1 0 genome.wustl.edu 37 5 153149892 153149892 + Silent SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 153149892 153149892 G T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.2217 p.R739 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 92 0 0.00 72 4 5.26 H2AFV 0 genome.wustl.edu 37 7 44874113 44874113 + Missense_Mutation SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 44874113 44874113 T C SNP H2AFV ENST00000308153 human ensembl 74_37 -1 known missense c.374 p.Q125R 1.000 smart_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFV HGNC ENSG00000105968 103 0 0.00 65 6 8.45 HERC2 0 genome.wustl.edu 37 15 28421704 28421704 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 28421704 28421704 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9556 p.G3186S 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 - - 259 0 0.00 183 35 16.06 HERC6 0 genome.wustl.edu 37 4 89319299 89319299 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 89319299 89319299 G A SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.1030 p.V344M 0.037 superfamily_RCC1/BLIP-II pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 tier1 - - 67 0 0.00 39 12 23.53 HNRNPA2B1 0 genome.wustl.edu 37 7 26233231 26233231 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 26233231 26233231 C T SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known missense c.841 p.G281R 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 tier1 - - 139 0 0.00 103 9 8.04 HPCA 0 genome.wustl.edu 37 1 33354763 33354763 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 33354763 33354763 G A SNP HPCA ENST00000373467 human ensembl 74_37 +1 known silent c.264 p.A88 0.589 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCA HGNC ENSG00000121905 tier1 - - 45 0 0.00 29 4 12.12 IGSF1 0 genome.wustl.edu 37 X 130409498 130409498 + Missense_Mutation SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 130409498 130409498 A C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3153 p.S1051R 0.011 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 45 0 0.00 17 5 22.73 INPP4A 0 genome.wustl.edu 37 2 99172218 99172218 + Nonsense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 99172218 99172218 C A SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known nonsense c.1784 p.S595* 0.999 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 48 0 0.00 28 5 15.15 ITGAX 0 genome.wustl.edu 37 16 31368637 31368637 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 16 31368637 31368637 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.382 p.L128F 0.848 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 82 0 0.00 39 8 17.02 JPH3 0 genome.wustl.edu 37 16 87723837 87723838 + Frame_Shift_Ins INS - - C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 16 87723837 87723838 0 C INS JPH3 ENST00000284262 human ensembl 74_37 +1 known frame_shift_ins c.1871_1872 p.P625fs 1.000:1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 96 0 0.00 60 4 6.25 KCNH2 0 genome.wustl.edu 37 7 150647326 150647326 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 150647326 150647326 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.2328 p.L776 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 86 0 0.00 56 7 11.11 KCNK2 0 genome.wustl.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 215256745 215256745 C T SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.17 p.S6L 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 tier1 - - 83 0 0.00 54 5 8.47 KIAA1549 0 genome.wustl.edu 37 7 138603609 138603609 + Missense_Mutation SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 138603609 138603609 T G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.763 p.T255P 0.013 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 32 0 0.00 17 3 15.00 KMT2E 0 genome.wustl.edu 37 7 104702724 104702724 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 104702724 104702724 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 82 0 0.00 65 6 8.45 LINC00471 0 genome.wustl.edu 37 2 232373919 232373919 + RNA SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 232373919 232373919 C T SNP LINC00471 ENST00000313064 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LINC00471 HGNC ENSG00000181798 tier1 - - 82 0 0.00 62 7 10.14 LRP1 0 genome.wustl.edu 37 12 57556223 57556223 + Frame_Shift_Del DEL C C - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 57556223 57556223 C - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.2326 p.T778fs 0.102 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 47 0 0.00 28 3 9.68 LRRC28 0 genome.wustl.edu 37 15 99796292 99796292 + Nonsense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 99796292 99796292 G T SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known nonsense c.130 p.E44* 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 79 0 0.00 43 4 8.51 LRRC8C 0 genome.wustl.edu 37 1 90178841 90178841 + Missense_Mutation SNP G G C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 90178841 90178841 G C SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.712 p.A238P 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 107 0 0.00 71 13 15.48 LTBP1 0 genome.wustl.edu 37 2 33468795 33468795 + Missense_Mutation SNP A A T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 33468795 33468795 A T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1943 p.Y648F 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 133 0 0.00 78 12 13.33 MATR3 0 genome.wustl.edu 37 5 138658285 138658285 + Splice_Site SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 138658285 138658285 A C SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known splice_site c.1779-2 e11-2 0.993 - - - no_errors MATR3 HGNC ENSG00000015479 51 0 0.00 37 5 11.90 MC4R 0 genome.wustl.edu 37 18 58038662 58038662 + Silent SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 58038662 58038662 T C SNP MC4R ENST00000299766 human ensembl 74_37 -1 known silent c.921 p.Q307 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 - - 34 0 0.00 22 6 21.43 MFF 0 genome.wustl.edu 37 2 228221914 228221914 + RNA SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 228221914 228221914 C A SNP MFF ENST00000476924 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MFF HGNC ENSG00000168958 tier1 - - 80 0 0.00 58 4 6.45 MIR154 0 genome.wustl.edu 37 14 101526154 101526154 + RNA SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 14 101526154 101526154 T G SNP MIR154 ENST00000385243 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors MIR154 HGNC ENSG00000207978 tier1 - - 121 0 0.00 65 11 14.29 MIR3934 0 genome.wustl.edu 37 6 33665934 33665934 + RNA SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 6 33665934 33665934 T C SNP MIR3934 ENST00000579806 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR3934 HGNC ENSG00000266509 tier1 - - 42 0 0.00 18 3 14.29 MKI67IP 0 genome.wustl.edu 37 2 122493308 122493310 + In_Frame_Del DEL GTT GTT - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 122493308 122493310 GTT - DEL MKI67IP ENST00000285814 human ensembl 74_37 -1 known in_frame_del c.124_122 p.Q41in_frame_del 0.012:0.000:0.001 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 tier1 117 0 0.00 72 11 13.25 MROH2A 0 genome.wustl.edu 37 2 234688027 234688027 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 234688027 234688027 C A SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.23 p.A8E 0.057 NULL superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 60 0 0.00 50 4 7.41 MT-ND5 0 genome.wustl.edu 37 MT 12552 12552 + Silent SNP A A G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 MT 12552 12552 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.216 p.Q72 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 29 0 0.00 5 2 28.57 MTPAP 0 genome.wustl.edu 37 10 30602572 30602572 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 30602572 30602572 G T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.2105 p.T702N 0.003 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 82 0 0.00 79 5 5.95 MUC16 0 genome.wustl.edu 37 19 9015384 9015384 + Missense_Mutation SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 9015384 9015384 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38204 p.L12735R 0.723 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 121 0 0.00 85 17 16.67 MUC17 0 genome.wustl.edu 37 7 100696339 100696339 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 100696339 100696339 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.13176 p.Y4392 0.038 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 40 0 0.00 29 3 9.38 NBEA 0 genome.wustl.edu 37 13 35751218 35751218 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 13 35751218 35751218 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4640 p.R1547H 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 112 0 0.00 66 11 14.29 NIN 0 genome.wustl.edu 37 14 51239789 51239789 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 14 51239789 51239789 G T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.691 p.L231I 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 49 0 0.00 24 2 7.69 NPTXR 0 genome.wustl.edu 37 22 39222643 39222643 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 22 39222643 39222643 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known silent c.960 p.T320 0.323 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 33 0 0.00 39 3 7.14 NPY2R 0 genome.wustl.edu 37 4 156135424 156135424 + Silent SNP C C G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 156135424 156135424 C G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.333 p.T111 0.989 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 54 0 0.00 23 3 11.54 NRG1 0 genome.wustl.edu 37 8 32463100 32463100 + Missense_Mutation SNP A A T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 8 32463100 32463100 A T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.299 p.N100I 0.004 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 75 0 0.00 50 7 12.28 NSA2 0 genome.wustl.edu 37 5 74066483 74066483 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 74066483 74066483 G T SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known missense c.370 p.V124L 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 94 0 0.00 76 4 5.00 NT5C3AP1 0 genome.wustl.edu 37 4 118497013 118497013 + RNA SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 118497013 118497013 C T SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 tier1 - - 67 0 0.00 35 6 14.63 NUP37 0 genome.wustl.edu 37 12 102471230 102471230 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 102471230 102471230 G T SNP NUP37 ENST00000251074 human ensembl 74_37 -1 known missense c.592 p.Q198K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC ENSG00000075188 48 0 0.00 27 2 6.90 OR1N2 0 genome.wustl.edu 37 9 125315791 125315791 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 9 125315791 125315791 C A SNP OR1N2 ENST00000373688 human ensembl 74_37 +1 known missense c.343 p.L115I 0.038 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N2 HGNC ENSG00000171501 46 0 0.00 30 4 11.76 OR2AJ1 0 genome.wustl.edu 37 1 248097553 248097553 + Silent SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 248097553 248097553 T G SNP OR2AJ1 ENST00000318244 human ensembl 74_37 +1 known silent c.483 p.A161 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AJ1 HGNC ENSG00000177275 tier1 - - 73 0 0.00 27 6 18.18 OR7D4 0 genome.wustl.edu 37 19 9324972 9324972 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 9324972 9324972 G A SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.542 p.P181L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 tier1 rs142332857 - 109 0 0.00 76 8 9.52 OR8D4 0 genome.wustl.edu 37 11 123777178 123777178 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 123777178 123777178 C A SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.40 p.L14I 0.818 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 59 0 0.00 36 2 5.26 PABPN1 0 genome.wustl.edu 37 14 23792218 23792218 + Silent SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 14 23792218 23792218 G T SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known silent c.477 p.V159 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 tier1 - - 87 0 0.00 74 4 5.13 PALLD 0 genome.wustl.edu 37 4 169815804 169815804 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 169815804 169815804 G T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.2175 p.E725D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 96 0 0.00 68 4 5.56 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900341 112900341 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 9 112900341 112900341 G T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2517 p.E839D 0.985 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 35 0 0.00 30 2 6.25 PCDHB4 0 genome.wustl.edu 37 5 140502330 140502330 + Silent SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 140502330 140502330 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.750 p.V250 0.009 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 68 0 0.00 32 7 17.95 PDHA2 0 genome.wustl.edu 37 4 96762049 96762049 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 96762049 96762049 C A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.748 p.L250I 0.118 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 - - 34 0 0.00 22 6 21.43 POF1B 0 genome.wustl.edu 37 X 84600956 84600956 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 84600956 84600956 C T SNP POF1B ENST00000373145 human ensembl 74_37 -1 known silent c.633 p.Q211 0.000 NULL NULL - no_errors POF1B HGNC ENSG00000124429 tier1 - - 66 0 0.00 54 4 6.90 PRAMEF4 0 genome.wustl.edu 37 1 12942190 12942190 + Silent SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 12942190 12942190 T C SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.360 p.E120 0.033 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 282 0 0.00 205 20 8.89 PRPF40A 0 genome.wustl.edu 37 2 153533010 153533010 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 153533010 153533010 G T SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.940 p.Q314K 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 61 0 0.00 60 4 6.25 PRR4 0 genome.wustl.edu 37 12 11126225 11126225 + RNA SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 11126225 11126225 T C SNP PRR4 ENST00000534923 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors PRR4 HGNC ENSG00000111215 tier1 - - 49 0 0.00 27 5 15.62 PTCHD2 0 genome.wustl.edu 37 1 11561238 11561238 + Silent SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 11561238 11561238 C A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.189 p.T63 0.664 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 60 0 0.00 38 10 20.83 PTPRE 0 genome.wustl.edu 37 10 129875962 129875962 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 129875962 129875962 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1807 p.E603K 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 tier1 - - 127 0 0.00 72 8 9.64 QSOX1 0 genome.wustl.edu 37 1 180135646 180135646 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 180135646 180135646 C T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.286 p.L96F 0.409 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 48 0 0.00 22 2 8.33 RASGEF1C 0 genome.wustl.edu 37 5 179564942 179564942 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 5 179564942 179564942 C T SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.111 p.A37 0.998 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 51 0 0.00 25 9 26.47 RBAK 0 genome.wustl.edu 37 7 5104054 5104054 + Missense_Mutation SNP G G C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 7 5104054 5104054 G C SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.967 p.G323R 1.000 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 RBAK HGNC ENSG00000146587 42 0 0.00 38 2 5.00 RFC3 0 genome.wustl.edu 37 13 34410304 34410304 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 13 34410304 34410304 G A SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known missense c.943 p.A315T 1.000 superfamily_DNA_pol3_clamp-load_cplx_C pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 tier1 - - 109 0 0.00 68 4 5.48 RFPL2 0 genome.wustl.edu 37 22 32588920 32588920 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 22 32588920 32588920 C T SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known silent c.525 p.L175 0.039 pfam_RDM_domain_RFPL,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 tier1 - - 118 0 0.00 79 12 13.19 RGS8 0 genome.wustl.edu 37 1 182635137 182635137 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 182635137 182635137 C T SNP RGS8 ENST00000258302 human ensembl 74_37 -1 known missense c.214 p.A72T 1.000 superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS8 HGNC ENSG00000135824 tier1 - - 59 0 0.00 46 4 8.00 RIBC1 0 genome.wustl.edu 37 X 53455374 53455374 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 53455374 53455374 G T SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known missense c.343 p.D115Y 0.129 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 tier1 - - 33 0 0.00 13 4 23.53 SDK2 0 genome.wustl.edu 37 17 71415408 71415408 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 71415408 71415408 G T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.2083 p.Q695K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 88 0 0.00 51 3 5.56 SEMA4A 0 genome.wustl.edu 37 1 156130700 156130700 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 156130700 156130700 C T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known silent c.690 p.D230 0.993 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 tier1 - - 41 0 0.00 24 5 17.24 SGSH 0 genome.wustl.edu 37 17 78188874 78188874 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 78188874 78188874 G A SNP SGSH ENST00000326317 human ensembl 74_37 -1 known missense c.313 p.R105W 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 tier1 - - 137 0 0.00 67 10 12.99 SIM2 0 genome.wustl.edu 37 21 38114049 38114049 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 21 38114049 38114049 C T SNP SIM2 ENST00000290399 human ensembl 74_37 +1 known silent c.882 p.Y294 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 93 0 0.00 61 4 6.15 SLC12A1 0 genome.wustl.edu 37 15 48522690 48522690 + Nonsense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 48522690 48522690 G A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known nonsense c.965 p.W322* 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 51 0 0.00 28 3 9.68 SLC22A25 0 genome.wustl.edu 37 11 62996898 62996898 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 62996898 62996898 G T SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.227 p.S76Y 0.996 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 115 0 0.00 74 4 5.13 SLITRK1 0 genome.wustl.edu 37 13 84455509 84455509 + Missense_Mutation SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 13 84455509 84455509 T C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.134 p.K45R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 47 0 0.00 29 2 6.45 SLITRK2 0 genome.wustl.edu 37 X 144906321 144906321 + Frame_Shift_Del DEL A A - TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 X 144906321 144906321 A - DEL SLITRK2 ENST00000370490 human ensembl 74_37 +1 known frame_shift_del c.2378 p.N794fs 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 58 0 0.00 29 2 6.45 SMAD4 0 genome.wustl.edu 37 18 48573628 48573628 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 48573628 48573628 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.212 p.C71Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 44 0 0.00 27 2 6.67 SNHG14 0 genome.wustl.edu 37 15 25427435 25427435 + RNA SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 25427435 25427435 C T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 45 0 0.00 36 5 12.20 SOGA2 0 genome.wustl.edu 37 18 8819009 8819009 + Missense_Mutation SNP C C G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 18 8819009 8819009 C G SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2908 p.Q970E 0.060 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 55 0 0.00 51 10 16.39 SORBS1 0 genome.wustl.edu 37 10 97154774 97154774 + Silent SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 10 97154774 97154774 G T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known silent c.1281 p.I427 1.000 pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 117 0 0.00 73 4 5.19 SRP54 0 genome.wustl.edu 37 14 35468837 35468837 + Missense_Mutation SNP A A T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 14 35468837 35468837 A T SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.152 p.Q51L 1.000 pfam_Signal_recog_particl_SRP54_hlx,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 tier1 - - 67 0 0.00 49 5 9.26 STK16 0 genome.wustl.edu 37 2 220111885 220111885 + Silent SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 220111885 220111885 C T SNP STK16 ENST00000396738 human ensembl 74_37 +1 known silent c.357 p.F119 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK16 HGNC ENSG00000115661 tier1 - - 107 0 0.00 69 6 8.00 SYT10 0 genome.wustl.edu 37 12 33560221 33560221 + Nonsense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 33560221 33560221 C A SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known nonsense c.580 p.E194* 0.996 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 58 0 0.00 27 2 6.90 TBRG1 0 genome.wustl.edu 37 11 124501301 124501301 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 124501301 124501301 C T SNP TBRG1 ENST00000441174 human ensembl 74_37 +1 known missense c.1078 p.P360S 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 tier1 - - 63 0 0.00 33 4 10.81 TCP11L2 0 genome.wustl.edu 37 12 106729445 106729445 + Missense_Mutation SNP A A G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 106729445 106729445 A G SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known missense c.801 p.I267M 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 tier1 - - 60 0 0.00 51 5 8.93 TG 0 genome.wustl.edu 37 8 133883696 133883696 + Nonsense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 8 133883696 133883696 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known nonsense c.378 p.Y126* 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 56 0 0.00 48 4 7.69 THSD7B 0 genome.wustl.edu 37 2 138376070 138376070 + Missense_Mutation SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 138376070 138376070 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3683 p.C1228Y 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 90 0 0.00 57 11 16.18 TMCO5B 0 genome.wustl.edu 37 15 33533784 33533784 + RNA SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 15 33533784 33533784 G T SNP TMCO5B ENST00000529696 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 42 0 0.00 16 3 15.79 TMEM132C 0 genome.wustl.edu 37 12 129189710 129189710 + Missense_Mutation SNP T T G TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 129189710 129189710 T G SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2197 p.F733V 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 53 0 0.00 47 4 7.84 TRHDE 0 genome.wustl.edu 37 12 73012754 73012754 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 12 73012754 73012754 C T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2270 p.A757V 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 72 0 0.00 53 6 10.17 TRPA1 0 genome.wustl.edu 37 8 72969981 72969981 + Nonsense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 8 72969981 72969981 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known nonsense c.1064 p.W355* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 61 0 0.00 34 4 10.53 UNC5C 0 genome.wustl.edu 37 4 96140296 96140296 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 96140296 96140296 G T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1469 p.P490H 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 60 0 0.00 47 4 7.84 USP17L10 0 genome.wustl.edu 37 4 9213418 9213418 + Missense_Mutation SNP T T C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 9213418 9213418 T C SNP USP17L10 ENST00000417945 human ensembl 74_37 +1 novel missense c.1036 p.W346R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L10 HGNC ENSG00000231396 tier1 - - 51 0 0.00 33 4 10.81 VAMP4 0 genome.wustl.edu 37 1 171688329 171688329 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 1 171688329 171688329 C A SNP VAMP4 ENST00000236192 human ensembl 74_37 -1 known missense c.146 p.R49I 0.994 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP4 HGNC ENSG00000117533 tier1 - - 81 0 0.00 69 4 5.41 WDR17 0 genome.wustl.edu 37 4 177061048 177061048 + Silent SNP A A T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 4 177061048 177061048 A T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known silent c.1437 p.G479 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 81 0 0.00 36 4 10.00 WIZ 0 genome.wustl.edu 37 19 15540460 15540460 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 15540460 15540460 G T SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.3037 p.P1013T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 - - 88 0 0.00 45 5 10.00 WNT9B 0 genome.wustl.edu 37 17 44952592 44952592 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 17 44952592 44952592 C T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known missense c.460 p.R154W 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 tier1 - - 71 0 0.00 52 9 14.75 WT1-AS 0 genome.wustl.edu 37 11 32460813 32460813 + RNA SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 32460813 32460813 G A SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 8 0 0.00 16 4 20.00 ZNF143 0 genome.wustl.edu 37 11 9492878 9492878 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 11 9492878 9492878 G T SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.23 p.R8L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 51 0 0.00 41 3 6.82 ZNF192P1 0 genome.wustl.edu 37 6 28134854 28134854 + RNA SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 6 28134854 28134854 A C SNP ZNF192P1 ENST00000440790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF192P1 HGNC ENSG00000226314 tier1 - - 121 0 0.00 66 14 17.50 ZNF2 0 genome.wustl.edu 37 2 95847259 95847259 + Missense_Mutation SNP C C A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 2 95847259 95847259 C A SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.686 p.P229H 1.000 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 ZNF2 HGNC ENSG00000163067 tier1 - - 97 0 0.00 68 4 5.56 ZNF234 0 genome.wustl.edu 37 19 44661481 44661481 + Missense_Mutation SNP C C T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 44661481 44661481 C T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1312 p.R438C 0.040 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 ZNF234 HGNC ENSG00000263002 tier1 - - 115 0 0.00 78 13 14.29 ZNF256 0 genome.wustl.edu 37 19 58452307 58452307 + Silent SNP G G A TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 58452307 58452307 G A SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known silent c.1869 p.N623 0.000 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 ZNF256 HGNC ENSG00000152454 tier1 - - 182 0 0.00 102 17 14.29 ZNF667 0 genome.wustl.edu 37 19 56954005 56954005 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 56954005 56954005 G T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.743 p.T248K 0.807 NULL 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 ZNF667 HGNC ENSG00000198046 116 0 0.00 47 3 6.00 ZNF681 0 genome.wustl.edu 37 19 23927146 23927146 + Silent SNP A A C TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 917fd740-cafe-43d8-b6fa-276dcc14838c 303bf8fd-fe5c-4e93-ac3f-15411403fef0 19 23927146 23927146 A C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known silent c.1206 p.A402 0.006 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 ZNF681 HGNC ENSG00000196172 tier1 - - 70 0 0.00 50 5 9.09