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 ABCC5 0 genome.wustl.edu 37 3 183665251 183665251 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 183665251 183665251 G A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.3275 p.T1092M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 21 0 0.00 14 3 17.65 ABHD17A 0 genome.wustl.edu 37 19 1877558 1877558 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 1877558 1877558 C G SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.809 p.R270P 1.000 pfam_Dienelactn_hydro pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 64 0 0.00 65 4 5.80 ABHD8 0 genome.wustl.edu 37 19 17412293 17412293 + Frame_Shift_Del DEL G G - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 17412293 17412293 G - DEL ABHD8 ENST00000247706 human ensembl 74_37 -1 known frame_shift_del c.133 p.R45fs 1.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 28 0 0.00 14 2 12.50 ACSS1 0 genome.wustl.edu 37 20 25011577 25011577 + Missense_Mutation SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 25011577 25011577 G C SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.449 p.T150R 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 25 0 0.00 23 6 20.69 ADAM19 0 genome.wustl.edu 37 5 156957869 156957869 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 156957869 156957869 G A SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.359 p.T120M 0.378 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 39 0 0.00 22 8 26.67 AGMAT 0 genome.wustl.edu 37 1 15909825 15909826 + Frame_Shift_Ins INS - - C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 15909825 15909826 - C INS AGMAT ENST00000375826 human ensembl 74_37 -1 known frame_shift_ins c.338_337 p.A113fs 0.991:0.994 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 tier1 28 0 0.00 33 2 5.71 AGMO 0 genome.wustl.edu 37 7 15599775 15599775 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 15599775 15599775 C T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.248 p.R83Q 0.966 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 62 0 0.00 65 17 20.73 AGO3 0 genome.wustl.edu 37 1 36439083 36439083 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 36439083 36439083 C T SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known missense c.629 p.A210V 1.000 pfam_DUF1785 pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 tier1 - - 76 0 0.00 50 4 7.41 AKAP4 0 genome.wustl.edu 37 X 49958695 49958695 + Silent SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f X 49958695 49958695 T C SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.669 p.R223 0.297 pfam_RII_binding_1,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 73 0 0.00 55 23 29.11 AKAP8L 0 genome.wustl.edu 37 19 15512282 15512282 + Silent SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 15512282 15512282 G T SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known silent c.495 p.R165 0.541 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 tier1 - - 30 0 0.00 25 4 13.79 ALDH1A1 0 genome.wustl.edu 37 9 75524572 75524572 + Missense_Mutation SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 75524572 75524572 T G SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.1304 p.K435T 0.963 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 tier1 - - 36 0 0.00 16 19 54.29 ALDH6A1 0 genome.wustl.edu 37 14 74535675 74535675 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 74535675 74535675 A C SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.740 p.F247C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 tier1 - - 63 0 0.00 52 6 10.34 AMER1 0 genome.wustl.edu 37 X 63410422 63410422 + Nonsense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f X 63410422 63410422 G T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known nonsense c.2745 p.Y915* 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 30 0 0.00 48 4 7.69 AMY2B 0 genome.wustl.edu 37 1 104120136 104120136 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 104120136 104120136 C A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1126 p.P376T 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 295 0 0.00 317 22 6.49 ANKEF1 0 genome.wustl.edu 37 20 10032330 10032330 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 10032330 10032330 G A SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.1663 p.D555N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 tier1 - - 18 0 0.00 16 8 33.33 ANKRD46 0 genome.wustl.edu 37 8 101534997 101534997 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 101534997 101534997 G A SNP ANKRD46 ENST00000520552 human ensembl 74_37 -1 known missense c.473 p.A158V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD46 HGNC ENSG00000186106 22 0 0.00 34 4 10.53 APC 0 genome.wustl.edu 37 5 112175496 112175496 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 112175496 112175496 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.4205 p.A1402V 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 12 0 0.00 13 2 13.33 ARAP3 0 genome.wustl.edu 37 5 141059875 141059875 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 141059875 141059875 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.179 p.R60H 0.997 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 - - 59 0 0.00 44 4 8.33 ATIC 0 genome.wustl.edu 37 2 216184451 216184451 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 216184451 216184451 T C SNP ATIC ENST00000236959 human ensembl 74_37 +1 known missense c.287 p.I96T 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 tier1 - - 42 0 0.00 16 4 20.00 ATP2B2 0 genome.wustl.edu 37 3 10491048 10491048 + Silent SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 10491048 10491048 G T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.180 p.L60 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 41 0 0.00 52 4 7.14 AUTS2 0 genome.wustl.edu 37 7 69755386 69755386 + Silent SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 69755386 69755386 A G SNP AUTS2 ENST00000403018 human ensembl 74_37 +1 known silent c.693 p.A231 0.000 NULL NULL - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 66 0 0.00 60 11 15.49 BCAS3 0 genome.wustl.edu 37 17 59115362 59115362 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 59115362 59115362 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.1920 p.D640 1.000 pfam_BCAS3 pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 - - 55 0 0.00 50 9 15.00 BMP15 0 genome.wustl.edu 37 X 50659038 50659038 + Nonsense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f X 50659038 50659038 C T SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known nonsense c.610 p.R204* 0.009 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 tier1 - - 22 0 0.00 19 9 32.14 BPIFC 0 genome.wustl.edu 37 22 32833811 32833811 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 32833811 32833811 A G SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.683 p.L228P 0.966 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 29 0 0.00 36 2 5.26 C10orf112 0 genome.wustl.edu 37 10 19678160 19678160 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 19678160 19678160 T C SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.2624 p.L875P 0.777 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 23 0 0.00 32 6 15.79 C14orf132 0 genome.wustl.edu 37 14 96552938 96552938 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 96552938 96552938 G A SNP C14orf132 ENST00000553764 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors C14orf132 HGNC ENSG00000227051 tier1 - - 21 0 0.00 11 10 47.62 C16orf45 0 genome.wustl.edu 37 16 15680718 15680718 + RNA DEL C C - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 15680718 15680718 C - DEL C16orf45 ENST00000565913 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors C16orf45 HGNC ENSG00000166780 tier1 75 0 0.00 61 9 12.86 C2CD2L 0 genome.wustl.edu 37 11 118984980 118984980 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 118984980 118984980 G A SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1817 p.R606H 0.992 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 tier1 - - 47 0 0.00 23 7 23.33 C4orf21 0 genome.wustl.edu 37 4 113508884 113508884 + Nonsense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 113508884 113508884 G T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known nonsense c.3329 p.S1110* 0.008 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 40 0 0.00 43 4 8.51 C9orf3 0 genome.wustl.edu 37 9 97849070 97849070 + RNA SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 97849070 97849070 C T SNP C9orf3 ENST00000463372 human ensembl 74_37 +1 known rna NULL NULL 0.869 - - - no_errors C9orf3 HGNC ENSG00000148120 tier1 - - 44 0 0.00 35 6 14.63 CALCRL 0 genome.wustl.edu 37 2 188211037 188211037 + Silent SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 188211037 188211037 A C SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known silent c.1260 p.S420 0.957 prints_GPCR_2_CGRP1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 tier1 - - 39 0 0.00 47 14 22.95 CASS4 0 genome.wustl.edu 37 20 55027029 55027029 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 55027029 55027029 A G SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.797 p.E266G 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 tier1 - - 42 0 0.00 26 14 35.00 CCDC114 0 genome.wustl.edu 37 19 48800586 48800586 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 48800586 48800586 G A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.1660 p.R554C 0.158 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 51 0 0.00 44 4 8.16 CCDC30 0 genome.wustl.edu 37 1 42948563 42948563 + RNA DEL A A - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 42948563 42948563 A - DEL CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 23 0 0.00 9 3 25.00 CCDC53 0 genome.wustl.edu 37 12 102406899 102406899 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 102406899 102406899 G T SNP CCDC53 ENST00000240079 human ensembl 74_37 -1 known missense c.572 p.S191Y 1.000 NULL pfam_WASH_CCDC53 - no_errors CCDC53 HGNC ENSG00000120860 31 0 0.00 29 2 6.45 CCDC88C 0 genome.wustl.edu 37 14 91774800 91774800 + Silent SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 91774800 91774800 T C SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.2901 p.A967 0.037 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 47 0 0.00 58 7 10.77 CCNE1 0 genome.wustl.edu 37 19 30312917 30312917 + Silent SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 30312917 30312917 T C SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known silent c.720 p.R240 0.019 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 tier1 - - 57 0 0.00 27 9 25.00 CCT5 0 genome.wustl.edu 37 5 10262705 10262705 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 10262705 10262705 T C SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.1292 p.L431P 0.997 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 - - 90 0 0.00 61 4 6.15 CD1D 0 genome.wustl.edu 37 1 158151871 158151871 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 158151871 158151871 C T SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.378 p.N126 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 38 0 0.00 27 6 18.18 CD1E 0 genome.wustl.edu 37 1 158325179 158325179 + Missense_Mutation SNP A A T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 158325179 158325179 A T SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.445 p.S149C 1.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 28 0 0.00 44 9 16.67 CDH17 0 genome.wustl.edu 37 8 95182682 95182682 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 95182682 95182682 G A SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.1009 p.P337S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 tier1 - - 96 0 0.00 125 13 9.29 CDRT1 0 genome.wustl.edu 37 17 15510949 15510949 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 15510949 15510949 C A SNP CDRT1 ENST00000395906 human ensembl 74_37 -1 known missense c.1171 p.V391F 0.285 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 tier1 - - 207 0 0.00 111 21 15.91 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 55 0 0.00 51 6 10.53 CECR7 0 genome.wustl.edu 37 22 17525784 17525784 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 17525784 17525784 G A SNP CECR7 ENST00000414401 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CECR7 HGNC ENSG00000237438 tier1 - - 46 0 0.00 44 15 25.42 CHD3 0 genome.wustl.edu 37 17 7807298 7807300 + In_Frame_Del DEL GAA GAA - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 7807298 7807300 GAA - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known in_frame_del c.3883_3885 p.E1296in_frame_del 1.000:1.000:1.000 pfam_DUF1087 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,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 CHD3 HGNC ENSG00000170004 tier1 32 0 0.00 25 2 7.41 CIT 0 genome.wustl.edu 37 12 120139670 120139670 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 120139670 120139670 G T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5272 p.Q1758K 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 50 0 0.00 46 4 7.84 CIZ1 0 genome.wustl.edu 37 9 130928628 130928628 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 130928628 130928628 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.2623 p.A875T 0.962 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 195 0 0.00 202 44 17.89 CLEC4F 0 genome.wustl.edu 37 2 71046546 71046546 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 71046546 71046546 G A SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.209 p.P70L 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 tier1 - - 58 0 0.00 66 7 9.46 CLK4 0 genome.wustl.edu 37 5 178045592 178045592 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 178045592 178045592 G A SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.349 p.R117C 1.000 NULL 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 CLK4 HGNC ENSG00000113240 tier1 - - 81 0 0.00 50 11 18.03 CNST 0 genome.wustl.edu 37 1 246755187 246755187 + Missense_Mutation SNP T T A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 246755187 246755187 T A SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.323 p.I108N 0.000 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 25 0 0.00 31 10 24.39 COL11A2 0 genome.wustl.edu 37 6 33138892 33138892 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 33138892 33138892 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.3365 p.A1122V 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 25 0 0.00 18 6 25.00 COL5A2 0 genome.wustl.edu 37 2 189945770 189945770 + Splice_Site SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 189945770 189945770 C A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known splice_site c.853-1 e13-1 1.000 - - - no_errors COL5A2 HGNC ENSG00000204262 49 0 0.00 57 3 5.00 CPO 0 genome.wustl.edu 37 2 207834128 207834128 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 207834128 207834128 G A SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.1093 p.G365S 0.000 NULL pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 tier1 - - 47 0 0.00 58 6 9.38 CR2 0 genome.wustl.edu 37 1 207648206 207648206 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 207648206 207648206 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known silent c.2361 p.G787 0.368 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 20 0 0.00 17 5 22.73 CRYGEP 0 genome.wustl.edu 37 2 208977059 208977059 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 208977059 208977059 G A SNP CRYGEP ENST00000440809 human ensembl 74_37 -1 known rna NULL NULL 0.958 - - - no_errors CRYGEP HGNC ENSG00000229150 tier1 - - 52 0 0.00 70 13 15.66 CSMD1 0 genome.wustl.edu 37 8 2966266 2966266 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 2966266 2966266 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6616 p.G2206S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 40 0 0.00 23 11 32.35 CSMD2 0 genome.wustl.edu 37 1 34042918 34042918 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 34042918 34042918 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.7554 p.S2518 0.756 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 51 0 0.00 31 13 29.55 CSMD3 0 genome.wustl.edu 37 8 114186075 114186075 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 114186075 114186075 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.585 p.D195 0.124 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 rs151216366 - 46 0 0.00 69 4 5.48 CTSE 0 genome.wustl.edu 37 1 206331026 206331026 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 206331026 206331026 C T SNP CTSE ENST00000360218 human ensembl 74_37 +1 known missense c.890 p.S297L 0.000 NULL pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSE HGNC ENSG00000196188 tier1 - - 42 0 0.00 26 15 36.59 CXXC11 0 genome.wustl.edu 37 2 242813928 242813928 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 242813928 242813928 T C SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.221 p.L74P 0.984 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 71 0 0.00 51 3 5.45 CYP4B1 0 genome.wustl.edu 37 1 47280896 47280896 + Nonsense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 47280896 47280896 G T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known nonsense c.1033 p.E345* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 28 0 0.00 39 6 13.33 DDX24 0 genome.wustl.edu 37 14 94528651 94528651 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 94528651 94528651 G A SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known silent c.1035 p.I345 0.002 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 tier1 - - 64 0 0.00 69 11 13.75 DIP2C 0 genome.wustl.edu 37 10 408572 408572 + Silent SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 408572 408572 G C SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.2652 p.T884 0.996 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 tier1 - - 42 0 0.00 36 18 33.33 DNAJA4 0 genome.wustl.edu 37 15 78572425 78572425 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 15 78572425 78572425 G T SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.1003 p.D335Y 0.426 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA4 HGNC ENSG00000140403 62 0 0.00 26 2 7.14 DPH7 0 genome.wustl.edu 37 9 140473262 140473262 + RNA SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 140473262 140473262 T C SNP DPH7 ENST00000467768 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPH7 HGNC ENSG00000148399 tier1 - - 44 0 0.00 13 15 53.57 DSCC1 0 genome.wustl.edu 37 8 120847177 120847177 + Missense_Mutation SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 120847177 120847177 G C SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known missense c.1138 p.Q380E 1.000 NULL pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 tier1 - - 92 0 0.00 78 15 16.13 DUSP22 0 genome.wustl.edu 37 6 348942 348942 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 348942 348942 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known silent c.609 p.T203 0.048 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 24 0 0.00 24 3 11.11 DZIP3 0 genome.wustl.edu 37 3 108353773 108353773 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 108353773 108353773 G T SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.872 p.C291F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 tier1 - - 111 0 0.00 85 12 12.37 EFR3B 0 genome.wustl.edu 37 2 25344587 25344587 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 25344587 25344587 C T SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.409 p.R137W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 65 0 0.00 47 7 12.96 EGR4 0 genome.wustl.edu 37 2 73519308 73519308 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 73519308 73519308 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.1047 p.I349 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 tier1 - - 54 0 0.00 48 21 30.43 EID2B 0 genome.wustl.edu 37 19 40022958 40022958 + Nonstop_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 40022958 40022958 C G SNP EID2B ENST00000326282 human ensembl 74_37 -1 known nonstop c.485 p.*162S 0.215 NULL NULL - no_errors EID2B HGNC ENSG00000176401 tier1 - - 33 0 0.00 23 10 30.30 ENSG00000180458 0 genome.wustl.edu 37 19 38039815 38039815 + RNA SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 38039815 38039815 C T SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 76 0 0.00 52 14 21.21 ENSG00000180458 0 genome.wustl.edu 37 19 38039849 38039849 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 38039849 38039849 G A SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 53 0 0.00 43 4 8.51 ENSG00000183154 0 genome.wustl.edu 37 8 37593499 37593499 + Missense_Mutation SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 37593499 37593499 G C SNP ENSG00000183154 ENST00000330539 human ensembl 74_37 -1 putative missense c.517 p.P173A 0.004 NULL NULL - no_errors RP11-863K10.7 Clone_based_vega_gene ENSG00000183154 tier1 - - 24 0 0.00 23 4 14.81 ENSG00000215398 0 genome.wustl.edu 37 14 19117128 19117128 + RNA SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 19117128 19117128 G T SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 257 0 0.00 208 20 8.77 ENSG00000227082 0 genome.wustl.edu 37 1 121138853 121138853 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 121138853 121138853 G A SNP ENSG00000227082 ENST00000417218 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors AL592494.5 Clone_based_vega_gene ENSG00000227082 tier1 rs184767318 - 16 0 0.00 14 7 33.33 ENSG00000247121 0 genome.wustl.edu 37 5 96271507 96271507 + RNA SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 96271507 96271507 G T SNP ENSG00000247121 ENST00000501338 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2260A17.2 Clone_based_vega_gene ENSG00000247121 tier1 - - 33 0 0.00 11 3 21.43 ENSG00000258603 0 genome.wustl.edu 37 14 74083691 74083691 + RNA SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 74083691 74083691 C T SNP ENSG00000258603 ENST00000555011 human ensembl 74_37 -1 known rna NULL NULL 0.604 - - - no_errors RP3-414A15.10 Clone_based_vega_gene ENSG00000258603 tier1 - - 58 0 0.00 43 11 20.00 ENSG00000270580 0 genome.wustl.edu 37 16 15208399 15208399 + RNA SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 15208399 15208399 A G SNP ENSG00000270580 ENST00000340301 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1186N24.5 Clone_based_vega_gene ENSG00000270580 tier1 - - 205 0 0.00 141 28 16.57 ETNK1 0 genome.wustl.edu 37 12 22824229 22824229 + Nonsense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 22824229 22824229 G T SNP ETNK1 ENST00000266517 human ensembl 74_37 +1 known nonsense c.991 p.E331* 1.000 pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 31 0 0.00 25 2 7.41 EXO1 0 genome.wustl.edu 37 1 242035465 242035465 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 242035465 242035465 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1399 p.P467S 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 tier1 - - 59 0 0.00 33 8 19.51 FAM193A 0 genome.wustl.edu 37 4 2692599 2692599 + Frame_Shift_Del DEL C C - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 2692599 2692599 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.1832 p.T612fs 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 18 0 0.00 27 6 18.18 FAM193A 0 genome.wustl.edu 37 4 2664632 2664632 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 2664632 2664632 T C SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.940 p.Y314H 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 37 0 0.00 47 4 7.84 FAM65A 0 genome.wustl.edu 37 16 67579416 67579416 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 67579416 67579416 G A SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.3229 p.V1077M 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 24 0 0.00 29 3 9.38 FBN1 0 genome.wustl.edu 37 15 48773943 48773943 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 15 48773943 48773943 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.3873 p.C1291 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 47 0 0.00 26 5 16.13 FTH1P10 0 genome.wustl.edu 37 5 17354524 17354524 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 17354524 17354524 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors FTH1P10 HGNC ENSG00000223361 tier1 - - 75 0 0.00 45 6 11.54 FUCA2 0 genome.wustl.edu 37 6 143828513 143828513 + Missense_Mutation SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 143828513 143828513 T G SNP FUCA2 ENST00000002165 human ensembl 74_37 -1 known missense c.273 p.K91N 0.041 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 tier1 - - 64 0 0.00 56 18 24.32 GAP43 0 genome.wustl.edu 37 3 115342544 115342544 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 115342544 115342544 G T SNP GAP43 ENST00000305124 human ensembl 74_37 +1 known missense c.8 p.C3F 1.000 pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 38 0 0.00 22 2 8.33 GART 0 genome.wustl.edu 37 21 34876758 34876758 + Silent SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 21 34876758 34876758 G T SNP GART ENST00000381815 human ensembl 74_37 -1 known silent c.2802 p.T934 0.004 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 23 0 0.00 36 2 5.26 GATAD2A 0 genome.wustl.edu 37 19 19603235 19603235 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 19603235 19603235 C T SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.390 p.T130 0.063 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 36 0 0.00 15 9 37.50 GCG 0 genome.wustl.edu 37 2 163002170 163002170 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 163002170 163002170 C T SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 tier1 rs35920035 - 43 0 0.00 39 10 20.41 GNAS 0 genome.wustl.edu 37 20 57428459 57428459 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 57428459 57428459 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.139 p.E47K 1.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 16 0 0.00 12 6 33.33 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658020 72658020 + RNA SNP T T A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 72658020 72658020 T A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.866 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 41 0 0.00 34 5 12.82 HARS2 0 genome.wustl.edu 37 5 140075409 140075409 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 140075409 140075409 G T SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.612 p.Q204H 0.876 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 71 0 0.00 45 4 8.16 HCK 0 genome.wustl.edu 37 20 30671802 30671802 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 30671802 30671802 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.638 p.R213Q 0.565 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 17 0 0.00 14 3 17.65 HECW1 0 genome.wustl.edu 37 7 43503287 43503287 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 43503287 43503287 A G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.2680 p.T894A 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 42 0 0.00 38 2 5.00 HMCN1 0 genome.wustl.edu 37 1 186086741 186086741 + Missense_Mutation SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 186086741 186086741 G C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11834 p.R3945T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 33 0 0.00 49 42 46.15 HMHA1 0 genome.wustl.edu 37 19 1073196 1073196 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 1073196 1073196 C G SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.470 p.A157G 0.994 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 39 0 0.00 30 8 21.05 IGSF10 0 genome.wustl.edu 37 3 151163489 151163489 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 151163489 151163489 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.4280 p.A1427V 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 107 0 0.00 94 5 5.05 IRX1 0 genome.wustl.edu 37 5 3600242 3600242 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 3600242 3600242 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1180 p.V394I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 17 0 0.00 11 6 35.29 IVL 0 genome.wustl.edu 37 1 152882818 152882818 + Missense_Mutation SNP A A T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 152882818 152882818 A T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.545 p.Q182L 0.264 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 50 0 0.00 79 8 9.20 JAKMIP1 0 genome.wustl.edu 37 4 6037791 6037791 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 6037791 6037791 T C SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.2219 p.Q740R 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 61 0 0.00 43 5 10.42 KBTBD6 0 genome.wustl.edu 37 13 41705091 41705091 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 41705091 41705091 G A SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known silent c.1557 p.C519 0.993 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 32 0 0.00 29 2 6.45 KCNAB2 0 genome.wustl.edu 37 1 6156793 6156793 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 6156793 6156793 G A SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known missense c.1046 p.C349Y 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 22 0 0.00 30 4 11.76 KCNC3 0 genome.wustl.edu 37 19 50831847 50831847 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 50831847 50831847 G T SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.493 p.P165T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 79 0 0.00 73 4 5.19 KCNN3 0 genome.wustl.edu 37 1 154842241 154842241 + Missense_Mutation SNP T T A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 154842241 154842241 T A SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.200 p.Q67L 0.941 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 66 0 0.00 117 7 5.56 KCNN4 0 genome.wustl.edu 37 19 44271780 44271780 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 44271780 44271780 G A SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.1199 p.A400V 0.896 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 tier1 - - 28 0 0.00 33 14 29.79 KIAA0947 0 genome.wustl.edu 37 5 5457453 5457453 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 5457453 5457453 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.700 p.A234T 0.975 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 29 0 0.00 36 3 7.69 KIAA0947 0 genome.wustl.edu 37 5 5464411 5464411 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 5464411 5464411 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4964 p.S1655L 0.054 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 17 0 0.00 19 2 9.52 KIAA1147 0 genome.wustl.edu 37 7 141364844 141364844 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 141364844 141364844 C A SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known missense c.963 p.E321D 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 tier1 - - 42 0 0.00 23 22 48.89 KIF1C 0 genome.wustl.edu 37 17 4908250 4908250 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 4908250 4908250 C T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.1120 p.R374W 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 tier1 - - 50 0 0.00 28 4 12.50 KIF20B 0 genome.wustl.edu 37 10 91497155 91497155 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 91497155 91497155 G T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.2647 p.V883F 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 76 0 0.00 60 4 6.25 KRT85 0 genome.wustl.edu 37 12 52755284 52755284 + Splice_Site SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 52755284 52755284 T G SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known splice_site c.1299-2 e8-2 0.970 - - - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 47 0 0.00 30 9 23.08 LATS2 0 genome.wustl.edu 37 13 21555733 21555733 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 21555733 21555733 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.2537 p.S846F 0.998 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,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 - - 32 0 0.00 13 11 45.83 LCE1D 0 genome.wustl.edu 37 1 152770547 152770547 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 152770547 152770547 A C SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.277 p.S93R 0.765 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 tier1 - - 66 0 0.00 100 9 8.26 LCP1 0 genome.wustl.edu 37 13 46708338 46708338 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 46708338 46708338 T C SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.1550 p.N517S 0.960 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 26 0 0.00 34 3 8.11 LINC00461 0 genome.wustl.edu 37 5 87969079 87969079 + RNA DEL A A - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 87969079 87969079 A - DEL LINC00461 ENST00000505030 human ensembl 74_37 -1 known rna NULL NULL 0.276 - - - no_errors LINC00461 HGNC ENSG00000245526 tier1 45 0 0.00 29 2 6.45 LPHN3 0 genome.wustl.edu 37 4 62758482 62758482 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 62758482 62758482 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1589 p.R530K 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 37 0 0.00 17 5 22.73 LRP1B 0 genome.wustl.edu 37 2 141079546 141079546 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 141079546 141079546 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12626 p.D4209G 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 39 0 0.00 36 9 20.00 LRRIQ3 0 genome.wustl.edu 37 1 74621378 74621378 + RNA SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 74621378 74621378 T G SNP LRRIQ3 ENST00000495179 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 108 0 0.00 86 21 19.44 LYST 0 genome.wustl.edu 37 1 235972611 235972611 + Nonsense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 235972611 235972611 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.1507 p.R503* 0.986 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 29 0 0.00 27 6 18.18 MAN1B1 0 genome.wustl.edu 37 9 139998207 139998207 + RNA SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 139998207 139998207 G C SNP MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.102 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 182 0 0.00 147 15 9.09 MAN2B2 0 genome.wustl.edu 37 4 6612647 6612647 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 6612647 6612647 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2300 p.G767D 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 58 0 0.00 48 4 7.69 MAP1S 0 genome.wustl.edu 37 19 17844182 17844182 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 17844182 17844182 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2969 p.R990Q 0.994 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 tier1 - - 58 0 0.00 40 12 23.08 MAP3K10 0 genome.wustl.edu 37 19 40721128 40721128 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 40721128 40721128 C A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.2794 p.L932M 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 26 0 0.00 25 10 28.57 MAT2B 0 genome.wustl.edu 37 5 162940917 162940917 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 162940917 162940917 G A SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known missense c.443 p.R148K 0.531 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 tier1 - - 39 0 0.00 13 6 31.58 MCHR1 0 genome.wustl.edu 37 22 41077867 41077867 + Nonsense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 41077867 41077867 C T SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known nonsense c.1204 p.Q402* 1.000 prints_MCH1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 19 0 0.00 30 3 9.09 MFSD12 0 genome.wustl.edu 37 19 3547313 3547313 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 3547313 3547313 G T SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.980 p.S327Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 tier1 - - 63 0 0.00 48 7 12.73 MID2 0 genome.wustl.edu 37 X 107148759 107148759 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f X 107148759 107148759 C A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.976 p.L326I 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 31 0 0.00 48 3 5.88 MT-RNR2 0 genome.wustl.edu 37 MT 3019 3019 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f MT 3019 3019 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 35 0 0.00 28 26 48.15 MT-TC 0 genome.wustl.edu 37 MT 5791 5791 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f MT 5791 5791 G A SNP MT-TC ENST00000387405 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TC HGNC ENSG00000210140 tier1 - - 129 0 0.00 66 170 72.03 MTTP 0 genome.wustl.edu 37 4 100521876 100521876 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 100521876 100521876 C T SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.1222 p.L408 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 43 0 0.00 32 8 20.00 MTTP 0 genome.wustl.edu 37 4 100521881 100521881 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 100521881 100521881 A C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1227 p.R409S 0.954 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 41 0 0.00 33 8 19.51 MUC16 0 genome.wustl.edu 37 19 9090305 9090305 + Frame_Shift_Del DEL C C - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 9090305 9090305 C - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.1510 p.D504fs 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 66 0 0.00 42 11 20.75 MUC17 0 genome.wustl.edu 37 7 100677376 100677376 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 100677376 100677376 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.2679 p.S893 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 87 0 0.00 71 8 10.13 MYH11 0 genome.wustl.edu 37 16 15844130 15844130 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 15844130 15844130 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.1944 p.S648 0.670 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 37 0 0.00 36 2 5.26 MYH2 0 genome.wustl.edu 37 17 10427169 10427169 + Silent SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 10427169 10427169 C A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5208 p.L1736 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 75 0 0.00 35 11 23.91 MYH6 0 genome.wustl.edu 37 14 23865919 23865919 + Missense_Mutation SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 23865919 23865919 T G SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.2276 p.K759T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 41 0 0.00 40 13 24.53 MYOCD 0 genome.wustl.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 12647692 12647694 CAG - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known in_frame_del c.910_912 p.Q307in_frame_del 1.000:1.000:1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 37 0 0.00 18 3 14.29 NAGK 0 genome.wustl.edu 37 2 71305470 71305470 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 71305470 71305470 G T SNP NAGK ENST00000418807 human ensembl 74_37 +1 putative missense c.714 p.Q238H 0.627 NULL pfam_ATPase_BadF - no_errors NAGK HGNC ENSG00000124357 tier1 - - 64 0 0.00 67 4 5.63 NCOA1 0 genome.wustl.edu 37 2 24914428 24914428 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 24914428 24914428 C A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.611 p.P204Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 29 0 0.00 56 3 5.08 NDUFA4 0 genome.wustl.edu 37 7 10973276 10973276 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 10973276 10973276 C T SNP NDUFA4 ENST00000339600 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 NULL NULL - no_errors NDUFA4 HGNC ENSG00000189043 tier1 - - 40 0 0.00 31 9 22.50 NDUFV2 0 genome.wustl.edu 37 18 9122614 9122614 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 18 9122614 9122614 G T SNP NDUFV2 ENST00000318388 human ensembl 74_37 +1 known missense c.404 p.C135F 1.000 pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like - no_errors NDUFV2 HGNC ENSG00000178127 81 0 0.00 76 4 5.00 NFAT5 0 genome.wustl.edu 37 16 69681398 69681398 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 69681398 69681398 G T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.721 p.D241Y 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 34 0 0.00 16 2 11.11 NLRP8 0 genome.wustl.edu 37 19 56466078 56466078 + Silent SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 56466078 56466078 C A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.654 p.I218 0.233 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 51 0 0.00 39 8 17.02 NOMO1 0 genome.wustl.edu 37 16 14972668 14972668 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 14972668 14972668 G A SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.2734 p.G912S 1.000 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 tier1 - - 217 0 0.00 179 29 13.94 NPBWR2 0 genome.wustl.edu 37 20 62737466 62737466 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 62737466 62737466 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.719 p.R240Q 0.363 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 rs139565347 - 20 0 0.00 18 5 21.74 NRG3 0 genome.wustl.edu 37 10 84718755 84718755 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 84718755 84718755 A G SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1208 p.K403R 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 40 0 0.00 23 3 11.54 NT5DC2 0 genome.wustl.edu 37 3 52563311 52563311 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 52563311 52563311 G A SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.272 p.A91V 0.663 superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 tier1 - - 65 0 0.00 54 4 6.90 NUFIP1 0 genome.wustl.edu 37 13 45523878 45523878 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 45523878 45523878 C A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.1117 p.G373W 0.991 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 tier1 - - 85 0 0.00 74 4 5.13 ONECUT2 0 genome.wustl.edu 37 18 55143876 55143876 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 18 55143876 55143876 G A SNP ONECUT2 ENST00000491143 human ensembl 74_37 +1 known missense c.1436 p.R479H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 tier1 - - 40 0 0.00 16 10 38.46 OR11H12 0 genome.wustl.edu 37 14 19377837 19377837 + Missense_Mutation SNP T T A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 19377837 19377837 T A SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.244 p.S82T 0.273 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 61 0 0.00 71 5 6.58 OR1I1 0 genome.wustl.edu 37 19 15198107 15198107 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 15198107 15198107 C T SNP OR1I1 ENST00000209540 human ensembl 74_37 +1 known silent c.231 p.T77 0.895 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 36 0 0.00 38 2 5.00 OR2AJ1 0 genome.wustl.edu 37 1 248097885 248097885 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 248097885 248097885 A C SNP OR2AJ1 ENST00000318244 human ensembl 74_37 +1 known missense c.815 p.K272T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AJ1 HGNC ENSG00000177275 tier1 - - 35 0 0.00 60 12 16.67 OR2L2 0 genome.wustl.edu 37 1 248202030 248202030 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 248202030 248202030 A C SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.461 p.N154T 0.049 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 OR2L2 HGNC ENSG00000203663 tier1 - - 105 0 0.00 170 13 7.10 OR56B1 0 genome.wustl.edu 37 11 5758475 5758475 + Silent SNP A A T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 5758475 5758475 A T SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known silent c.729 p.A243 0.021 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 tier1 - - 61 0 0.00 43 6 12.24 OR6A2 0 genome.wustl.edu 37 11 6815962 6815962 + Silent SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 6815962 6815962 A G SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known silent c.978 p.N326 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 tier1 - - 88 0 0.00 61 13 17.57 PAPPA 0 genome.wustl.edu 37 9 119109489 119109489 + Splice_Site SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 119109489 119109489 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known splice_site c.3964+1 e15+1 1.000 - - - no_errors PAPPA HGNC ENSG00000182752 29 0 0.00 30 2 6.25 PATE1 0 genome.wustl.edu 37 11 125616207 125616207 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 125616207 125616207 A C SNP PATE1 ENST00000305738 human ensembl 74_37 +1 known missense c.8 p.K3T 0.007 NULL NULL - no_errors PATE1 HGNC ENSG00000171053 tier1 - - 39 0 0.00 32 12 27.27 PBLD 0 genome.wustl.edu 37 10 70043993 70043993 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 70043993 70043993 C T SNP PBLD ENST00000309049 human ensembl 74_37 -1 known missense c.808 p.G270R 0.569 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 35 0 0.00 38 2 5.00 PCDHA4 0 genome.wustl.edu 37 5 140186794 140186794 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 140186794 140186794 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.22 p.G8S 0.020 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 48 0 0.00 31 5 13.89 PCDHB4 0 genome.wustl.edu 37 5 140502955 140502955 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 140502955 140502955 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1375 p.V459I 0.039 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 rs142630785 - 137 0 0.00 75 19 20.21 PCDHB7 0 genome.wustl.edu 37 5 140554213 140554213 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 140554213 140554213 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1797 p.N599 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 174 0 0.00 106 27 20.30 PCDHGA3 0 genome.wustl.edu 37 5 140723816 140723816 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 140723816 140723816 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.216 p.T72 0.368 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 47 0 0.00 30 6 16.67 PCGF5 0 genome.wustl.edu 37 10 92982738 92982738 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 92982738 92982738 C T SNP PCGF5 ENST00000336126 human ensembl 74_37 +1 known missense c.110 p.T37I 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 tier1 - - 38 0 0.00 41 6 12.77 PEX2 0 genome.wustl.edu 37 8 77895549 77895549 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 77895549 77895549 C T SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.866 p.S289N 0.792 NULL pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 tier1 - - 39 0 0.00 32 21 39.62 PGBD3 0 genome.wustl.edu 37 10 50724765 50724767 + In_Frame_Del DEL TGG TGG - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 10 50724765 50724767 TGG - DEL PGBD3 ENST00000603152 human ensembl 74_37 -1 known in_frame_del c.1800_1798 p.P600in_frame_del 1.000:0.999:0.998 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 tier1 67 0 0.00 57 11 16.18 PI15 0 genome.wustl.edu 37 8 75737501 75737501 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 75737501 75737501 C G SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.17 p.A6G 0.965 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 25 0 0.00 35 2 5.41 PIK3CD 0 genome.wustl.edu 37 1 9783211 9783211 + Frame_Shift_Del DEL G G - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 9783211 9783211 G - DEL PIK3CD ENST00000536656 human ensembl 74_37 +1 known frame_shift_del c.2527 p.D844fs 0.999 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 31 0 0.00 30 2 6.25 PJA2 0 genome.wustl.edu 37 5 108704338 108704338 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 108704338 108704338 C A SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.1393 p.D465Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 42 0 0.00 32 2 5.88 PKDREJ 0 genome.wustl.edu 37 22 46654703 46654703 + Missense_Mutation SNP G G C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 46654703 46654703 G C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.4517 p.P1506R 0.008 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 58 0 0.00 37 8 17.78 PLD1 0 genome.wustl.edu 37 3 171455451 171455452 + Splice_Site INS - - A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 171455451 171455452 - A INS PLD1 ENST00000351298 human ensembl 74_37 -1 known splice_site_ins c.161-3_161-2 e2-2 0.999:0.901 - - - no_errors PLD1 HGNC ENSG00000075651 tier1 20 0 0.00 17 3 15.00 PML 0 genome.wustl.edu 37 15 74335500 74335500 + Frame_Shift_Del DEL C C - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 15 74335500 74335500 C - DEL PML ENST00000395135 human ensembl 74_37 +1 known frame_shift_del c.1881 p.H629fs 0.002 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 29 0 0.00 19 2 9.52 PNLDC1 0 genome.wustl.edu 37 6 160239687 160239687 + Splice_Site SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 160239687 160239687 G A SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known splice_site c.1224+1 e15+1 1.000 - - - no_errors PNLDC1 HGNC ENSG00000146453 15 0 0.00 17 4 19.05 POM121L2 0 genome.wustl.edu 37 6 27279511 27279511 + Frame_Shift_Del DEL A A - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 27279511 27279511 A - DEL POM121L2 ENST00000444565 human ensembl 74_37 -1 known frame_shift_del c.439 p.S147fs 0.004 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 31 0 0.00 28 2 6.67 POTEF 0 genome.wustl.edu 37 2 130832862 130832862 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 130832862 130832862 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2183 p.R728Q 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 95 0 0.00 68 19 21.84 PPP2R5C 0 genome.wustl.edu 37 14 102375978 102375978 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 102375978 102375978 C A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.1297 p.Q433K 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 59 0 0.00 58 4 6.35 PRAMEF11 0 genome.wustl.edu 37 1 12887426 12887426 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 12887426 12887426 T C SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.431 p.K144R 0.004 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 238 0 0.00 170 29 14.57 PRB2 0 genome.wustl.edu 37 12 11546376 11546376 + Silent SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 11546376 11546376 A G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.636 p.P212 0.021 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 104 0 0.00 90 22 19.47 PREX2 0 genome.wustl.edu 37 8 69005844 69005844 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 69005844 69005844 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2255 p.D752G 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 58 0 0.00 77 10 11.49 PRG4 0 genome.wustl.edu 37 1 186275465 186275465 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 186275465 186275465 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.614 p.K205R 1.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 35 0 0.00 97 10 9.35 PROSER1 0 genome.wustl.edu 37 13 39587523 39587523 + Silent SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 39587523 39587523 T C SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.1866 p.P622 0.506 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 65 0 0.00 64 12 15.79 PTPN13 0 genome.wustl.edu 37 4 87672182 87672182 + Nonsense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 87672182 87672182 C G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.3071 p.S1024* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 41 0 0.00 26 8 23.53 PTPRS 0 genome.wustl.edu 37 19 5238931 5238931 + Frame_Shift_Del DEL G G - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 5238931 5238931 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.1851 p.K618fs 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 11 0 0.00 4 2 33.33 PTPRT 0 genome.wustl.edu 37 20 40944500 40944500 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 40944500 40944500 A C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2002 p.L668V 0.707 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 51 0 0.00 33 25 43.10 PTX4 0 genome.wustl.edu 37 16 1537919 1537919 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 1537919 1537919 T C SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.194 p.N65S 0.760 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 - - 47 0 0.00 20 14 41.18 QTRT1 0 genome.wustl.edu 37 19 10823277 10823277 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 10823277 10823277 C T SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known silent c.834 p.F278 1.000 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 tier1 - - 40 0 0.00 20 12 37.50 RABGAP1 0 genome.wustl.edu 37 9 125752361 125752361 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 125752361 125752361 C T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known silent c.792 p.A264 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 41 0 0.00 32 3 8.57 RELN 0 genome.wustl.edu 37 7 103243923 103243923 + Missense_Mutation SNP T T C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 103243923 103243923 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3161 p.Y1054C 0.998 pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases,smart_EG-like_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 43 0 0.00 36 13 26.53 RGS12 0 genome.wustl.edu 37 4 3319104 3319104 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 3319104 3319104 C G SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1207 p.R403G 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 33 0 0.00 40 4 9.09 RIMS2 0 genome.wustl.edu 37 8 105257145 105257145 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 105257145 105257145 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3336 p.K1112N 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 18 0 0.00 19 2 9.52 RP1 0 genome.wustl.edu 37 8 55533956 55533956 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 55533956 55533956 G T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.430 p.V144F 0.008 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 26 0 0.00 34 3 7.89 RSPH6A 0 genome.wustl.edu 37 19 46305522 46305522 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 46305522 46305522 C A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1654 p.G552C 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 30 0 0.00 18 4 18.18 SACS 0 genome.wustl.edu 37 13 23910865 23910865 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 23910865 23910865 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7150 p.E2384K 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 37 0 0.00 40 3 6.98 SARS 0 genome.wustl.edu 37 1 109773544 109773544 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 109773544 109773544 C T SNP SARS ENST00000369923 human ensembl 74_37 +1 known silent c.492 p.V164 0.996 pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 tier1 - - 96 0 0.00 80 16 16.67 SATB2 0 genome.wustl.edu 37 2 200245168 200245168 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 200245168 200245168 A C SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.516 p.H172Q 0.929 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 61 0 0.00 43 54 55.67 SBF1 0 genome.wustl.edu 37 22 50893823 50893823 + Nonsense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 50893823 50893823 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known nonsense c.4384 p.Q1462* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 88 0 0.00 59 4 6.35 SCGB1A1 0 genome.wustl.edu 37 11 62190554 62190554 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 62190554 62190554 G A SNP SCGB1A1 ENST00000278282 human ensembl 74_37 +1 known silent c.267 p.L89 0.264 pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin - no_errors SCGB1A1 HGNC ENSG00000149021 60 0 0.00 32 3 8.57 SCN9A 0 genome.wustl.edu 37 2 167089906 167089906 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 167089906 167089906 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.3871 p.R1291W 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 75 0 0.00 68 12 14.81 SEMA3G 0 genome.wustl.edu 37 3 52478966 52478966 + Frame_Shift_Del DEL G G - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 52478966 52478966 G - DEL SEMA3G ENST00000231721 human ensembl 74_37 -1 known frame_shift_del c.78 p.G27fs 0.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 tier1 20 0 0.00 24 2 7.69 SETX 0 genome.wustl.edu 37 9 135203054 135203054 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 135203054 135203054 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.3931 p.R1311C 0.990 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 55 0 0.00 40 23 36.51 SH2D3C 0 genome.wustl.edu 37 9 130501134 130501134 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 130501134 130501134 C A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.2474 p.G825V 1.000 smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 tier1 - - 29 0 0.00 32 4 11.11 SIAE 0 genome.wustl.edu 37 11 124539377 124539377 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 124539377 124539377 C A SNP SIAE ENST00000263593 human ensembl 74_37 -1 known missense c.108 p.M36I 1.000 NULL pfam_DUF303_acetylest - no_errors SIAE HGNC ENSG00000110013 tier1 - - 38 0 0.00 28 4 12.50 SIDT1 0 genome.wustl.edu 37 3 113327302 113327302 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 113327302 113327302 G A SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.1639 p.A547T 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 90 0 0.00 81 18 18.18 SIPA1L3 0 genome.wustl.edu 37 19 38610361 38610361 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 38610361 38610361 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.2707 p.R903C 0.955 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 81 0 0.00 67 4 5.56 SLA 0 genome.wustl.edu 37 8 134057315 134057315 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 134057315 134057315 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.518 p.R173H 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 30 0 0.00 30 2 6.25 SLC12A7 0 genome.wustl.edu 37 5 1078124 1078125 + Splice_Site INS - - GCAG TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 1078124 1078125 - GCAG INS SLC12A7 ENST00000264930 human ensembl 74_37 -1 known splice_site_ins c.1455-3_1455-2 e12-2 1.000:0.971 - - - no_errors SLC12A7 HGNC ENSG00000113504 tier1 8 0 0.00 4 2 33.33 SLC17A4 0 genome.wustl.edu 37 6 25776845 25776845 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 25776845 25776845 C T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.1010 p.P337L 0.957 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 35 0 0.00 26 8 23.53 SLC22A3 0 genome.wustl.edu 37 6 160829877 160829877 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 6 160829877 160829877 G A SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known missense c.781 p.A261T 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 tier1 - - 49 0 0.00 69 4 5.48 SLC6A12 0 genome.wustl.edu 37 12 311938 311938 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 311938 311938 G A SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known missense c.458 p.P153L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 tier1 - - 63 0 0.00 44 15 25.42 SLC6A19 0 genome.wustl.edu 37 5 1213683 1213683 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 1213683 1213683 C G SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.769 p.P257A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 - - 72 0 0.00 58 13 18.31 SLC6A3 0 genome.wustl.edu 37 5 1416295 1416295 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 1416295 1416295 G T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.949 p.Q317K 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 33 0 0.00 56 4 6.67 SLITRK5 0 genome.wustl.edu 37 13 88327918 88327918 + Frame_Shift_Del DEL T T - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 88327918 88327918 T - DEL SLITRK5 ENST00000325089 human ensembl 74_37 +1 known frame_shift_del c.275 p.L93fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 23 0 0.00 34 2 5.56 SNORA72 0 genome.wustl.edu 37 8 99054503 99054504 + RNA INS - - T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 99054503 99054504 - T INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 41 0 0.00 38 6 13.64 SNTG2 0 genome.wustl.edu 37 2 1371122 1371122 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 1371122 1371122 A G SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1496 p.E499G 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 66 0 0.00 51 11 17.74 SRMS 0 genome.wustl.edu 37 20 62172557 62172557 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 20 62172557 62172557 C G SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.1272 p.Q424H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 tier1 - - 43 0 0.00 43 9 17.31 SRP68 0 genome.wustl.edu 37 17 74035522 74035522 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 74035522 74035522 G A SNP SRP68 ENST00000542536 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRP68 HGNC ENSG00000167881 tier1 - - 24 0 0.00 18 6 25.00 ST6GALNAC3 0 genome.wustl.edu 37 1 76877737 76877737 + Silent SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 76877737 76877737 A C SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known silent c.258 p.S86 0.561 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 tier1 - - 60 0 0.00 54 7 11.48 STEAP3 0 genome.wustl.edu 37 2 120005349 120005349 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 120005349 120005349 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.617 p.A206V 0.009 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 tier1 - - 32 0 0.00 26 7 21.21 SVEP1 0 genome.wustl.edu 37 9 113312185 113312185 + Missense_Mutation SNP T T G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 113312185 113312185 T G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.731 p.Y244S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 26 0 0.00 39 10 20.41 SYCP1 0 genome.wustl.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 115537600 115537601 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.2891_2892 p.K968fs 1.000:1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 41 0 0.00 39 7 15.22 TAOK3 0 genome.wustl.edu 37 12 118681288 118681288 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 118681288 118681288 A C SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.226 p.L76V 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 TAOK3 HGNC ENSG00000135090 tier1 - - 102 0 0.00 77 18 18.95 TAT 0 genome.wustl.edu 37 16 71602142 71602142 + Nonsense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 71602142 71602142 C A SNP TAT ENST00000355962 human ensembl 74_37 -1 known nonsense c.1270 p.E424* 0.605 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 tier1 - - 45 0 0.00 18 4 18.18 TBL3 0 genome.wustl.edu 37 16 2024421 2024421 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 16 2024421 2024421 C T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known silent c.234 p.N78 0.983 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 tier1 - - 58 0 0.00 37 10 21.28 TDH 0 genome.wustl.edu 37 8 11223103 11223103 + RNA SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 11223103 11223103 C A SNP TDH ENST00000525246 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TDH HGNC ENSG00000154316 tier1 - - 31 0 0.00 29 11 27.50 TDH 0 genome.wustl.edu 37 8 11219167 11219167 + RNA SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 11219167 11219167 G A SNP TDH ENST00000525246 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TDH HGNC ENSG00000154316 77 0 0.00 75 4 5.06 TDRD9 0 genome.wustl.edu 37 14 104497480 104497480 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 14 104497480 104497480 G T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.3318 p.K1106N 0.013 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 - - 44 0 0.00 66 4 5.71 TIE1 0 genome.wustl.edu 37 1 43774548 43774548 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 43774548 43774548 G A SNP TIE1 ENST00000538015 human ensembl 74_37 +1 known missense c.1049 p.R350K 0.041 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 16 0 0.00 12 4 25.00 TMCC3 0 genome.wustl.edu 37 12 94972297 94972297 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 94972297 94972297 C A SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.1004 p.R335L 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 tier1 - - 30 0 0.00 17 3 15.00 TMCO3 0 genome.wustl.edu 37 13 114149957 114149957 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 13 114149957 114149957 C A SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.61 p.Q21K 0.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 32 0 0.00 31 2 6.06 TMEM109 0 genome.wustl.edu 37 11 60689319 60689319 + Silent SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 60689319 60689319 C G SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known silent c.414 p.A138 1.000 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 tier1 - - 142 0 0.00 102 22 17.74 TMEM132D 0 genome.wustl.edu 37 12 129566504 129566504 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 12 129566504 129566504 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1723 p.A575T 0.999 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 58 0 0.00 33 6 15.38 TMEM8C 0 genome.wustl.edu 37 9 136389832 136389832 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 136389832 136389832 C T SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.135 p.A45 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 tier1 - - 45 0 0.00 43 7 14.00 TNFSF12 0 genome.wustl.edu 37 17 7452775 7452775 + RNA DEL C C - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 7452775 7452775 C - DEL TNFSF12 ENST00000462619 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors TNFSF12 HGNC ENSG00000239697 tier1 74 0 0.00 55 14 20.29 TNR 0 genome.wustl.edu 37 1 175299280 175299280 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 175299280 175299280 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3723 p.Y1241 0.983 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 21 0 0.00 32 4 11.11 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 68 0 0.00 33 23 41.07 TP53I13 0 genome.wustl.edu 37 17 27899268 27899268 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 27899268 27899268 C T SNP TP53I13 ENST00000301057 human ensembl 74_37 +1 known missense c.622 p.R208W 0.994 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 tier1 - - 48 0 0.00 37 4 9.76 TRA2B 0 genome.wustl.edu 37 3 185637260 185637262 + In_Frame_Del DEL TCC TCC - TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 185637260 185637262 TCC - DEL TRA2B ENST00000453386 human ensembl 74_37 -1 known in_frame_del c.747_745 p.G249in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 tier1 60 0 0.00 34 3 8.11 TRAM1L1 0 genome.wustl.edu 37 4 118005745 118005745 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 118005745 118005745 C T SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.805 p.V269I 0.008 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 20 0 0.00 28 5 15.15 TRIM49B 0 genome.wustl.edu 37 11 49059118 49059118 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 49059118 49059118 A C SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.948 p.Q316H 0.079 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 193 0 0.00 157 37 19.07 TRIM5 0 genome.wustl.edu 37 11 5686747 5686747 + Missense_Mutation SNP G G T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 5686747 5686747 G T SNP TRIM5 ENST00000396847 human ensembl 74_37 -1 known missense c.1034 p.P345H 0.001 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 tier1 - - 55 0 0.00 47 4 7.84 TRIM51 0 genome.wustl.edu 37 11 55657514 55657514 + Missense_Mutation SNP A A T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 55657514 55657514 A T SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.858 p.R286S 0.053 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 tier1 - - 93 0 0.00 82 14 14.58 TROVE2 0 genome.wustl.edu 37 1 193053996 193053997 + RNA INS - - A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 193053996 193053997 - A INS TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 24 0 0.00 16 4 20.00 TTF1 0 genome.wustl.edu 37 9 135271877 135271877 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 9 135271877 135271877 C A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1799 p.W600L 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 - - 82 0 0.00 65 4 5.80 UBL4A 0 genome.wustl.edu 37 X 153714147 153714147 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f X 153714147 153714147 G A SNP UBL4A ENST00000369660 human ensembl 74_37 -1 known missense c.326 p.A109V 0.002 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBL4A HGNC ENSG00000102178 tier1 - - 40 0 0.00 38 4 9.52 UNC80 0 genome.wustl.edu 37 2 210678324 210678324 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 210678324 210678324 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.959 p.P320L 0.976 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 52 0 0.00 28 6 17.65 VCAN 0 genome.wustl.edu 37 5 82836373 82836373 + Silent SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 82836373 82836373 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.7551 p.D2517 0.246 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 21 0 0.00 14 3 17.65 WDR70 0 genome.wustl.edu 37 5 37443453 37443453 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 5 37443453 37443453 G A SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.665 p.R222Q 1.000 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 - no_errors WDR70 HGNC ENSG00000082068 63 0 0.00 55 4 6.78 WNT7B 0 genome.wustl.edu 37 22 46327149 46327149 + Silent SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 22 46327149 46327149 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known silent c.399 p.C133 0.994 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 45 0 0.00 31 18 36.73 WT1-AS 0 genome.wustl.edu 37 11 32461227 32461227 + RNA SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 11 32461227 32461227 C T SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 tier1 - - 51 0 0.00 36 9 20.00 WWTR1 0 genome.wustl.edu 37 3 149260151 149260151 + Nonsense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 149260151 149260151 G A SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known nonsense c.742 p.R248* 0.024 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 70 0 0.00 38 2 5.00 XPR1 0 genome.wustl.edu 37 1 180843176 180843176 + RNA SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 1 180843176 180843176 C G SNP XPR1 ENST00000498177 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors XPR1 HGNC ENSG00000143324 tier1 - - 15 0 0.00 7 11 61.11 ZFHX4 0 genome.wustl.edu 37 8 77775556 77775556 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 8 77775556 77775556 C G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9606 p.I3202M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 26 0 0.00 28 7 20.00 ZIC4 0 genome.wustl.edu 37 3 147108838 147108838 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 147108838 147108838 C T SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.1034 p.S345N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 56 0 0.00 62 5 7.46 ZNF107 0 genome.wustl.edu 37 7 64167902 64167902 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 7 64167902 64167902 C A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1220 p.S407Y 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 37 0 0.00 30 2 6.25 ZNF385D 0 genome.wustl.edu 37 3 21467136 21467136 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 3 21467136 21467136 C A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.700 p.A234S 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 58 0 0.00 43 9 17.31 ZNF507 0 genome.wustl.edu 37 19 32845530 32845530 + Silent SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 32845530 32845530 A C SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known silent c.1794 p.T598 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 16 0 0.00 19 5 20.83 ZNF513 0 genome.wustl.edu 37 2 27600837 27600837 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 2 27600837 27600837 C T SNP ZNF513 ENST00000323703 human ensembl 74_37 -1 known missense c.1201 p.D401N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 53 0 0.00 45 3 6.25 ZNF521 0 genome.wustl.edu 37 18 22805855 22805855 + Missense_Mutation SNP T T A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 18 22805855 22805855 T A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2027 p.Q676L 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 13 0 0.00 11 4 26.67 ZNF585B 0 genome.wustl.edu 37 19 37676372 37676372 + Silent SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 37676372 37676372 A C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known silent c.2067 p.P689 0.035 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 ZNF585B HGNC ENSG00000245680 49 0 0.00 38 9 19.15 ZNF721 0 genome.wustl.edu 37 4 436778 436778 + Missense_Mutation SNP C C G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 4 436778 436778 C G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.1478 p.R493T 0.180 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 74 0 0.00 74 20 21.28 ZNF750 0 genome.wustl.edu 37 17 80789208 80789208 + Missense_Mutation SNP C C T TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 17 80789208 80789208 C T SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.1123 p.V375I 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 - - 44 0 0.00 31 7 18.42 ZNF844 0 genome.wustl.edu 37 19 12186633 12186633 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68330017-cad8-4064-86c3-f414b8a9abf2 4f02c2c2-9922-41d1-9709-a96b47bf869f 19 12186633 12186633 C A SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.698 p.A233D 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 tier1 - - 62 0 0.00 60 5 7.69