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 AASDH 0 genome.wustl.edu 37 4 57220240 57220240 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 57220240 57220240 G A SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.1348 p.H450Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 tier1 - - 43 0 0.00 29 13 30.95 ABCC11 0 genome.wustl.edu 37 16 48221195 48221195 + Silent SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 48221195 48221195 G T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.2850 p.A950 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 57 0 0.00 53 3 5.36 ACSS3 0 genome.wustl.edu 37 12 81528635 81528635 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 81528635 81528635 A C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.497 p.K166T 0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 119 0 0.00 58 29 33.33 ADH7 0 genome.wustl.edu 37 4 100349278 100349278 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 100349278 100349278 G T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.349 p.R117S 0.000 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 36 0 0.00 19 3 13.64 AGO2 0 genome.wustl.edu 37 8 141595392 141595392 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 141595392 141595392 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.41 p.P14L 0.022 NULL 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 AGO2 HGNC ENSG00000123908 tier1 rs201542441 - 89 0 0.00 46 68 59.65 AHDC1 0 genome.wustl.edu 37 1 27876274 27876274 + Nonsense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 27876274 27876274 C A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known nonsense c.2353 p.G785* 0.838 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 77 0 0.00 41 18 30.51 AHNAK2 0 genome.wustl.edu 37 14 105413989 105413989 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 105413989 105413989 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7799 p.A2600V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 149 0 0.00 88 66 42.86 AKNA 0 genome.wustl.edu 37 9 117130813 117130813 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 117130813 117130813 C A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.1479 p.Q493H 0.870 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 35 0 0.00 16 10 38.46 ANAPC7 0 genome.wustl.edu 37 12 110824211 110824211 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 110824211 110824211 C T SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known silent c.840 p.L280 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 tier1 - - 75 0 0.00 50 10 16.67 ANKRD30BP2 0 genome.wustl.edu 37 21 14424315 14424315 + RNA SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 21 14424315 14424315 A C SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.073 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 99 0 0.00 93 17 15.45 ANKRD36 0 genome.wustl.edu 37 2 97866254 97866254 + Missense_Mutation SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 97866254 97866254 C G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2849 p.S950C 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 319 0 0.00 261 149 36.34 ARHGAP28 0 genome.wustl.edu 37 18 6894866 6894866 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 18 6894866 6894866 A C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1881 p.Q627H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 35 0 0.00 35 15 30.00 ARID1A 0 genome.wustl.edu 37 1 27106970 27106971 + Frame_Shift_Ins INS - - C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 27106970 27106971 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.6581_6582 p.L2195fs 1.000:1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 42 0 0.00 22 13 37.14 ATP2A2 0 genome.wustl.edu 37 12 110777326 110777326 + Missense_Mutation SNP A A T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 110777326 110777326 A T SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1561 p.I521F 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 tier1 - - 46 0 0.00 32 18 36.00 ATP2B2 0 genome.wustl.edu 37 3 10442672 10442672 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 10442672 10442672 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.746 p.R249H 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase 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 rs200591536 - 108 0 0.00 75 34 31.19 BAGE2 0 genome.wustl.edu 37 21 11058233 11058233 + RNA SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 21 11058233 11058233 C A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 147 0 0.00 143 19 11.73 BCL2L14 0 genome.wustl.edu 37 12 12232486 12232486 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 12232486 12232486 G A SNP BCL2L14 ENST00000308721 human ensembl 74_37 +1 known missense c.247 p.A83T 0.000 NULL pfscan_Bcl2-like - no_errors BCL2L14 HGNC ENSG00000121380 tier1 - - 34 0 0.00 12 11 47.83 BEND5 0 genome.wustl.edu 37 1 49208310 49208310 + Silent SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 49208310 49208310 G T SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.879 p.I293 1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 tier1 - - 91 0 0.00 45 28 38.36 BRINP1 0 genome.wustl.edu 37 9 121930240 121930240 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 121930240 121930240 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1408 p.R470W 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 36 0 0.00 16 21 56.76 C14orf169 0 genome.wustl.edu 37 14 73959864 73959864 + RNA DEL A A - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 73959864 73959864 A - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 tier1 49 0 0.00 36 3 7.69 C22orf34 0 genome.wustl.edu 37 22 50017935 50017935 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 22 50017935 50017935 G A SNP C22orf34 ENST00000444628 human ensembl 74_37 -1 known missense c.526 p.H176Y 0.987 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 - - 105 0 0.00 76 37 32.74 CACNA1E 0 genome.wustl.edu 37 1 181721357 181721357 + Missense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 181721357 181721357 G C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3810 p.K1270N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 45 0 0.00 37 3 7.50 CAMK1D 0 genome.wustl.edu 37 10 12858285 12858285 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 10 12858285 12858285 C A SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.791 p.P264Q 0.999 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 CAMK1D HGNC ENSG00000183049 tier1 - - 47 0 0.00 25 4 13.79 CAPN15 0 genome.wustl.edu 37 16 597228 597228 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 597228 597228 G A SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known silent c.390 p.E130 0.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 11 0 0.00 12 2 14.29 CD177 0 genome.wustl.edu 37 19 43857882 43857882 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 43857882 43857882 C T SNP CD177 ENST00000378009 human ensembl 74_37 +1 known silent c.16 p.L6 0.041 NULL pfam_LY6_UPAR - no_errors CD177 HGNC ENSG00000204936 tier1 - - 60 0 0.00 50 25 33.33 CDH23 0 genome.wustl.edu 37 10 73501677 73501677 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 10 73501677 73501677 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4859 p.S1620L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 37 0 0.00 20 12 37.50 CEACAM3 0 genome.wustl.edu 37 19 42312912 42312912 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 42312912 42312912 C T SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known silent c.486 p.V162 0.000 NULL pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 tier1 - - 113 0 0.00 66 40 37.74 CELSR2 0 genome.wustl.edu 37 1 109807186 109807186 + Frame_Shift_Del DEL C C - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 109807186 109807186 C - DEL CELSR2 ENST00000271332 human ensembl 74_37 +1 known frame_shift_del c.5400 p.P1801fs 0.980 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 27 0 0.00 20 2 9.09 CES1 0 genome.wustl.edu 37 16 55853484 55853484 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 55853484 55853484 T C SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.869 p.K290R 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 83 0 0.00 59 27 31.40 CHD5 0 genome.wustl.edu 37 1 6209422 6209422 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 6209422 6209422 A G SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1045 p.C349R 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 80 0 0.00 47 11 18.97 CHRNA3 0 genome.wustl.edu 37 15 78894371 78894371 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 78894371 78894371 C T SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.613 p.G205S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 tier1 - - 87 0 0.00 69 48 41.03 CISD3 0 genome.wustl.edu 37 17 36890780 36890781 + RNA INS - - A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 36890780 36890781 - A INS CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 19 0 0.00 14 2 12.50 CLEC5A 0 genome.wustl.edu 37 7 141631584 141631584 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 141631584 141631584 C T SNP CLEC5A ENST00000546910 human ensembl 74_37 -1 known missense c.388 p.G130S 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC5A HGNC ENSG00000258227 tier1 - - 32 0 0.00 17 5 22.73 CNGA4 0 genome.wustl.edu 37 11 6265529 6265529 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 6265529 6265529 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1618 p.P540S 0.995 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 tier1 - - 52 0 0.00 38 14 26.92 CNTD1 0 genome.wustl.edu 37 17 40956372 40956372 + Silent SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 40956372 40956372 G T SNP CNTD1 ENST00000588408 human ensembl 74_37 +1 known silent c.375 p.V125 1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 tier1 - - 45 0 0.00 39 4 9.30 CNTNAP1 0 genome.wustl.edu 37 17 40841641 40841641 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 40841641 40841641 C T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.1731 p.H577 0.999 superfamily_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 tier1 - - 41 0 0.00 32 13 28.89 COG7 0 genome.wustl.edu 37 16 23415147 23415147 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 23415147 23415147 C T SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.1671 p.G557 0.949 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 34 0 0.00 19 6 24.00 COPA 0 genome.wustl.edu 37 1 160305050 160305050 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 160305050 160305050 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.291 p.R97 0.966 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 24 0 0.00 43 9 17.31 CYP11A1 0 genome.wustl.edu 37 15 74653823 74653823 + RNA SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 74653823 74653823 T C SNP CYP11A1 ENST00000467407 human ensembl 74_37 -1 known rna NULL NULL 0.072 - - - no_errors CYP11A1 HGNC ENSG00000140459 tier1 - - 23 0 0.00 16 9 36.00 DCP1B 0 genome.wustl.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 2062350 2062350 C G SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.756 p.Q252H 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 tier1 - - 43 0 0.00 23 13 36.11 DDX60 0 genome.wustl.edu 37 4 169143005 169143005 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 169143005 169143005 G T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.4852 p.R1618S 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 54 0 0.00 32 2 5.88 DENND2C 0 genome.wustl.edu 37 1 115142017 115142017 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 115142017 115142017 G T SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2161 p.Q721K 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 tier1 - - 66 0 0.00 47 13 21.67 DIAPH3 0 genome.wustl.edu 37 13 60554939 60554939 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 13 60554939 60554939 A G SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.1535 p.L512P 0.801 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 26 0 0.00 31 9 22.50 DNAH5 0 genome.wustl.edu 37 5 13868096 13868096 + Silent SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 13868096 13868096 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.3840 p.S1280 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 38 0 0.00 35 9 20.45 EDC3 0 genome.wustl.edu 37 15 74925058 74925058 + Missense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 74925058 74925058 G C SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.1422 p.I474M 0.996 superfamily_YjeF_N_dom pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 tier1 - - 59 0 0.00 33 22 40.00 EGFLAM 0 genome.wustl.edu 37 5 38258907 38258907 + Frame_Shift_Del DEL C C - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 38258907 38258907 C - DEL EGFLAM ENST00000354891 human ensembl 74_37 +1 known frame_shift_del c.51 p.L18fs 0.903 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 36 0 0.00 12 19 61.29 ENSG00000205746 0 genome.wustl.edu 37 16 18437147 18437147 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 18437147 18437147 G A SNP ENSG00000205746 ENST00000538220 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors RP11-1212A22.1 Clone_based_vega_gene ENSG00000205746 tier1 - - 26 0 0.00 11 11 50.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65639 65639 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca GL000212.1 65639 65639 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1388 p.T463M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 160 0 0.00 103 9 8.04 ENSG00000214581 0 genome.wustl.edu 37 16 34681800 34681800 + RNA SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 34681800 34681800 A C SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 49 0 0.00 35 21 37.50 ENSG00000228532 0 genome.wustl.edu 37 X 114953387 114953387 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 114953387 114953387 C T SNP ENSG00000228532 ENST00000449327 human ensembl 74_37 -1 novel missense c.163 p.V55M 1.000 pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors RP1-241P17.4 Clone_based_vega_gene ENSG00000228532 tier1 - - 63 0 0.00 115 8 6.45 ENSG00000244306 0 genome.wustl.edu 37 14 19857011 19857011 + RNA SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 19857011 19857011 T C SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 116 0 0.00 96 25 20.66 ENSG00000251226 0 genome.wustl.edu 37 11 134605739 134605739 + RNA SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 134605739 134605739 C T SNP ENSG00000251226 ENST00000513405 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 tier1 rs60987557 - 213 0 0.00 145 82 36.12 ENSG00000256616 0 genome.wustl.edu 37 18 12076470 12076470 + RNA SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 18 12076470 12076470 C T SNP ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.127 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 - - 60 0 0.00 38 13 25.49 ENSG00000259385 0 genome.wustl.edu 37 15 48493747 48493747 + RNA SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 48493747 48493747 T C SNP ENSG00000259385 ENST00000559875 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-605F22.1 Clone_based_vega_gene ENSG00000259385 tier1 - - 47 0 0.00 40 22 35.48 ENSG00000261317 0 genome.wustl.edu 37 16 90038412 90038412 + RNA SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 90038412 90038412 C T SNP ENSG00000261317 ENST00000565150 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-566K11.5 Clone_based_vega_gene ENSG00000261317 tier1 - - 30 0 0.00 25 15 37.50 ENSG00000263946 0 genome.wustl.edu 37 17 20459506 20459506 + RNA SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 20459506 20459506 A G SNP ENSG00000263946 ENST00000579603 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors RP11-434D2.11 Clone_based_vega_gene ENSG00000263946 tier1 rs113624258 - 25 0 0.00 19 5 20.83 ENSG00000265401 0 genome.wustl.edu 37 17 16285922 16285922 + RNA SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 16285922 16285922 A G SNP ENSG00000265401 ENST00000583934 human ensembl 74_37 -1 known rna NULL NULL 0.638 - - - no_errors RP11-138I1.4 Clone_based_vega_gene ENSG00000265401 tier1 - - 77 0 0.00 19 13 40.62 ERBB3 0 genome.wustl.edu 37 12 56491645 56491645 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 56491645 56491645 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2537 p.S846I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 43 0 0.00 35 21 37.50 EVC2 0 genome.wustl.edu 37 4 5570279 5570279 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 5570279 5570279 G T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3449 p.A1150D 0.066 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 44 0 0.00 22 4 15.38 EXPH5 0 genome.wustl.edu 37 11 108382046 108382046 + Silent SNP A A T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 108382046 108382046 A T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.4188 p.T1396 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 19 0 0.00 15 3 16.67 F8 0 genome.wustl.edu 37 X 154158008 154158008 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 154158008 154158008 C T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.4057 p.D1353N 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 82 0 0.00 59 27 31.40 FAM150A 0 genome.wustl.edu 37 8 53477670 53477670 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 53477670 53477670 G A SNP FAM150A ENST00000358543 human ensembl 74_37 -1 known silent c.147 p.P49 0.000 NULL NULL - no_errors FAM150A HGNC ENSG00000196711 tier1 - - 17 0 0.00 15 4 21.05 FAM153A 0 genome.wustl.edu 37 5 177161918 177161918 + Silent SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 177161918 177161918 T G SNP FAM153A ENST00000360669 human ensembl 74_37 -1 known silent c.450 p.V150 0.000 NULL prints_FAM153 - no_errors FAM153A HGNC ENSG00000170074 tier1 - - 68 0 0.00 42 15 26.32 FAM153B 0 genome.wustl.edu 37 5 175530246 175530246 + Silent SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 175530246 175530246 A C SNP FAM153B ENST00000253490 human ensembl 74_37 +1 known silent c.681 p.V227 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 tier1 - - 389 0 0.00 305 51 14.29 FAM46D 0 genome.wustl.edu 37 X 79698478 79698478 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 79698478 79698478 T G SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.440 p.I147S 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 tier1 - - 33 0 0.00 18 30 62.50 FAM86B2 0 genome.wustl.edu 37 8 12286498 12286498 + Nonsense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 12286498 12286498 G C SNP FAM86B2 ENST00000393715 human ensembl 74_37 -1 known nonsense c.50 p.S17* 0.829 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 tier1 - - 20 0 0.00 3 2 40.00 FAR2 0 genome.wustl.edu 37 12 29469890 29469890 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 29469890 29469890 C T SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1072 p.R358W 0.994 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 45 0 0.00 42 21 33.33 FAT4 0 genome.wustl.edu 37 4 126238008 126238008 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 126238008 126238008 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.442 p.S148R 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 44 0 0.00 23 4 14.81 FBP2 0 genome.wustl.edu 37 9 97329654 97329654 + Silent SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 97329654 97329654 G C SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known silent c.603 p.V201 1.000 pfam_FBPase_class-1/SBPase,prints_FBPtase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 tier1 - - 99 0 0.00 70 31 30.69 FGF9 0 genome.wustl.edu 37 13 22275850 22275850 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 13 22275850 22275850 G A SNP FGF9 ENST00000478546 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 22 0 0.00 32 5 13.51 FLG2 0 genome.wustl.edu 37 1 152328611 152328611 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 152328611 152328611 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.1651 p.S551G 0.132 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 151 0 0.00 165 36 17.91 FPR2 0 genome.wustl.edu 37 19 52272896 52272896 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 52272896 52272896 T G SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.985 p.S329A 0.001 prints_DEZorph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 tier1 - - 39 0 0.00 42 8 16.00 FSCB 0 genome.wustl.edu 37 14 44974184 44974184 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 44974184 44974184 T G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.2007 p.E669D 0.001 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 141 0 0.00 64 46 41.82 GAB4 0 genome.wustl.edu 37 22 17488926 17488926 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 22 17488926 17488926 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.79 p.G27R 0.008 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 79 0 0.00 41 19 31.67 GABBR2 0 genome.wustl.edu 37 9 101340352 101340352 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 101340352 101340352 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.324 p.C108 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 rs145095054 - 69 0 0.00 52 13 20.00 GLP1R 0 genome.wustl.edu 37 6 39047354 39047354 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 6 39047354 39047354 C A SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known missense c.1058 p.T353K 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 tier1 - - 54 0 0.00 52 13 20.00 GOLGA3 0 genome.wustl.edu 37 12 133398705 133398705 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 133398705 133398705 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.10 p.A4T 0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 40 0 0.00 33 15 31.25 GPR98 0 genome.wustl.edu 37 5 89938579 89938579 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 89938579 89938579 A C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2367 p.K789N 0.944 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 61 0 0.00 35 18 33.96 GSG1L 0 genome.wustl.edu 37 16 27840194 27840194 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 27840194 27840194 C T SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.746 p.R249Q 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 tier1 - - 67 0 0.00 36 12 25.00 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 16 0 0.00 15 2 11.76 GYS2 0 genome.wustl.edu 37 12 21727109 21727109 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 21727109 21727109 G T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.647 p.A216E 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 tier1 - - 66 0 0.00 46 27 36.99 HNRNPA1P48 0 genome.wustl.edu 37 16 51680203 51680203 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 51680203 51680203 G A SNP HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 tier1 - - 37 0 0.00 29 4 12.12 HS6ST1 0 genome.wustl.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 129026419 129026419 G A SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known nonsense c.553 p.R185* 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 77 0 0.00 35 2 5.41 IL1RN 0 genome.wustl.edu 37 2 113890293 113890293 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 113890293 113890293 C T SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known missense c.388 p.R130C 0.993 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 tier1 rs148520303 - 56 0 0.00 58 17 22.67 ITPR1 0 genome.wustl.edu 37 3 4712575 4712575 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 4712575 4712575 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.2124 p.G708 0.441 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 78 0 0.00 53 8 13.11 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42136011 42136011 + Splice_Site SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 42136011 42136011 T C SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known splice_site c.1572+2 e16+2 1.000 - - - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 96 0 0.00 84 6 6.67 JPH2 0 genome.wustl.edu 37 20 42788669 42788669 + Frame_Shift_Del DEL A A - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 20 42788669 42788669 A - DEL JPH2 ENST00000372980 human ensembl 74_37 -1 known frame_shift_del c.758 p.L253fs 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 tier1 39 0 0.00 8 2 20.00 JPH2 0 genome.wustl.edu 37 20 42744491 42744491 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 20 42744491 42744491 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.1824 p.T608 0.003 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 8 0 0.00 2 3 60.00 KCNH8 0 genome.wustl.edu 37 3 19436748 19436748 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 19436748 19436748 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1122 p.W374C 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 72 0 0.00 75 4 5.06 KDM4B 0 genome.wustl.edu 37 19 5131108 5131108 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 5131108 5131108 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1337 p.R446Q 0.954 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 24 0 0.00 14 13 48.15 KMT2E 0 genome.wustl.edu 37 7 104753362 104753362 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 104753362 104753362 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.5159 p.P1720L 0.274 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 45 0 0.00 54 3 5.26 KRT37 0 genome.wustl.edu 37 17 39580086 39580086 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 39580086 39580086 C A SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known missense c.503 p.S168I 0.957 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 tier1 - - 54 0 0.00 410 26 5.96 KRTAP5-1 0 genome.wustl.edu 37 11 1605880 1605882 + In_Frame_Del DEL GCC GCC - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 1605880 1605882 GCC 0 DEL KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known in_frame_del c.600_598 p.G200in_frame_del 0.351:0.343:0.000 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 80 0 0.00 76 6 7.32 LAMA1 0 genome.wustl.edu 37 18 6965355 6965355 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 18 6965355 6965355 A C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7127 p.L2376R 0.984 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 51 0 0.00 48 23 32.39 LOC100507261 0 genome.wustl.edu 37 11 43591340 43591340 + RNA SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 43591340 43591340 C T SNP LOC100507261 ENST00000533531 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors AC023085.1 Clone_based_vega_gene ENSG00000235661 tier1 - - 89 0 0.00 72 39 35.14 LOC101930284 0 genome.wustl.edu 37 1 143230187 143230187 + RNA SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 143230187 143230187 T G SNP LOC101930284 ENST00000427309 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 29 0 0.00 33 12 26.67 LOC728554 0 genome.wustl.edu 37 5 177309432 177309432 + RNA SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 177309432 177309432 A C SNP LOC728554 ENST00000506672 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 tier1 - - 116 0 0.00 92 17 15.60 LPHN1 0 genome.wustl.edu 37 19 14271034 14271034 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 14271034 14271034 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.1705 p.D569N 0.989 pfam_DUF3497 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 LPHN1 HGNC ENSG00000072071 tier1 - - 109 0 0.00 54 27 33.33 LRTM2 0 genome.wustl.edu 37 12 1945718 1945718 + RNA SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 1945718 1945718 C A SNP LRTM2 ENST00000543730 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 16 0 0.00 7 7 50.00 LUZP2 0 genome.wustl.edu 37 11 24998138 24998138 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 24998138 24998138 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.524 p.A175V 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 75 0 0.00 50 20 28.57 MAGEB10 0 genome.wustl.edu 37 X 27840074 27840074 + Nonsense_Mutation SNP T T A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 27840074 27840074 T A SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known nonsense c.651 p.C217* 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 tier1 - - 15 0 0.00 7 12 63.16 MAGEC1 0 genome.wustl.edu 37 X 140993851 140993851 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 140993851 140993851 A C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.661 p.T221P 0.069 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 109 0 0.00 161 10 5.81 MAGEC1 0 genome.wustl.edu 37 X 140996374 140996374 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 140996374 140996374 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3184 p.S1062A 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 24 0 0.00 19 31 62.00 MAGI1 0 genome.wustl.edu 37 3 65425560 65425560 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 65425560 65425560 T G SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1264 p.T422P 0.208 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 82 0 0.00 40 3 6.98 MAP4K4 0 genome.wustl.edu 37 2 102503719 102503719 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 102503719 102503719 C A SNP MAP4K4 ENST00000350198 human ensembl 74_37 +1 known missense c.3113 p.S1038Y 0.993 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 tier1 - - 88 0 0.00 105 23 17.97 MCF2 0 genome.wustl.edu 37 X 138678769 138678769 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 138678769 138678769 C T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.2651 p.R884H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 39 0 0.00 7 49 87.50 MDGA2 0 genome.wustl.edu 37 14 47351260 47351260 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 47351260 47351260 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.2403 p.V801 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 31 0 0.00 32 5 13.51 MDN1 0 genome.wustl.edu 37 6 90463816 90463816 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 6 90463816 90463816 G T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.2950 p.R984S 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 61 0 0.00 36 3 7.69 MEF2D 0 genome.wustl.edu 37 1 156452378 156452378 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 156452378 156452378 C T SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.109 p.V37M 1.000 pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 tier1 - - 91 0 0.00 56 12 17.65 MITF 0 genome.wustl.edu 37 3 70014297 70014297 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 70014297 70014297 C T SNP MITF ENST00000448226 human ensembl 74_37 +1 known silent c.1479 p.V493 0.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 tier1 - - 27 0 0.00 9 9 50.00 MT-RNR1 0 genome.wustl.edu 37 MT 1393 1393 + RNA SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca MT 1393 1393 G T SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 147 0 0.00 10 2 16.67 MYT1L 0 genome.wustl.edu 37 2 1842952 1842952 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 1842952 1842952 G T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3049 p.H1017N 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 41 0 0.00 27 7 20.59 NAA16 0 genome.wustl.edu 37 13 41894803 41894803 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 13 41894803 41894803 G T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.245 p.C82F 1.000 pfam_TPR_2,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 83 0 0.00 76 4 5.00 NAA50 0 genome.wustl.edu 37 3 113464831 113464831 + RNA SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 113464831 113464831 T C SNP NAA50 ENST00000467022 human ensembl 74_37 -1 putative rna NULL NULL 0.874 - - - no_errors NAA50 HGNC ENSG00000121579 tier1 - - 99 0 0.00 36 37 50.68 NKAIN4 0 genome.wustl.edu 37 20 61878933 61878933 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 20 61878933 61878933 G A SNP NKAIN4 ENST00000370316 human ensembl 74_37 -1 known silent c.468 p.I156 0.722 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN4 HGNC ENSG00000101198 tier1 - - 106 0 0.00 65 14 17.72 NME8 0 genome.wustl.edu 37 7 37907377 37907377 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 37907377 37907377 A C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.695 p.K232T 0.021 superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 58 0 0.00 33 12 26.67 NPM2 0 genome.wustl.edu 37 8 21892020 21892021 + Frame_Shift_Ins INS - - A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 21892020 21892021 - A INS NPM2 ENST00000397940 human ensembl 74_37 +1 known frame_shift_ins c.533_532 p.L181fs 1.000:1.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 tier1 44 0 0.00 9 28 75.68 NR4A1 0 genome.wustl.edu 37 12 52448812 52448812 + Missense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 52448812 52448812 G C SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.862 p.A288P 0.636 prints_Nuc_orp_HMR_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 tier1 - - 58 0 0.00 44 4 8.33 OR10G7 0 genome.wustl.edu 37 11 123909177 123909177 + Missense_Mutation SNP A A T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 123909177 123909177 A T SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.532 p.C178S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 tier1 - - 235 0 0.00 151 68 31.05 OR10Z1 0 genome.wustl.edu 37 1 158576495 158576495 + Missense_Mutation SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 158576495 158576495 C G SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.267 p.D89E 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 104 0 0.00 62 58 48.33 OR2M5 0 genome.wustl.edu 37 1 248308731 248308731 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 248308731 248308731 G A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.282 p.M94I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 159 0 0.00 107 112 51.14 OR4C3 0 genome.wustl.edu 37 11 48346896 48346896 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 48346896 48346896 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.404 p.V135G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 - - 145 0 0.00 120 26 17.81 OR51M1 0 genome.wustl.edu 37 11 5410768 5410768 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 5410768 5410768 A G SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.140 p.Y47C 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 tier1 - - 70 0 0.00 49 30 37.97 OR5B2 0 genome.wustl.edu 37 11 58189836 58189836 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 58189836 58189836 T G SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.899 p.K300T 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 tier1 - - 51 0 0.00 42 15 26.32 OR8H3 0 genome.wustl.edu 37 11 55890583 55890583 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 55890583 55890583 C T SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.735 p.L245 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 60 0 0.00 63 22 25.88 ORC6 0 genome.wustl.edu 37 16 46727054 46727054 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 46727054 46727054 A G SNP ORC6 ENST00000219097 human ensembl 74_37 +1 known missense c.409 p.R137G 1.000 NULL pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 tier1 - - 24 0 0.00 19 3 13.64 PABPC4 0 genome.wustl.edu 37 1 40029381 40029381 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 40029381 40029381 G A SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known missense c.1573 p.R525C 0.998 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 tier1 rs141523814 - 39 0 0.00 21 13 38.24 PAQR3 0 genome.wustl.edu 37 4 79856348 79856348 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 79856348 79856348 G T SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known missense c.275 p.T92K 0.995 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 tier1 - - 36 0 0.00 17 4 19.05 PARVG 0 genome.wustl.edu 37 22 44602215 44602215 + Frame_Shift_Del DEL C C - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 22 44602215 44602215 C - DEL PARVG ENST00000415224 human ensembl 74_37 +1 known frame_shift_del c.905 p.K303fs 0.993 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 tier1 51 0 0.00 29 7 19.44 PCMTD1 0 genome.wustl.edu 37 8 52733121 52733121 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 52733121 52733121 G A SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known silent c.864 p.Y288 0.744 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 tier1 rs147382324 - 136 0 0.00 181 10 5.24 PCSK5 0 genome.wustl.edu 37 9 78790172 78790172 + Missense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 78790172 78790172 G C SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.2027 p.W676S 0.005 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 rs77249767 - 9 0 0.00 2 7 77.78 PGGT1B 0 genome.wustl.edu 37 5 114572128 114572128 + Missense_Mutation SNP T T A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 114572128 114572128 T A SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.571 p.M191L 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 tier1 - - 50 0 0.00 43 13 23.21 PLCL1 0 genome.wustl.edu 37 2 198949120 198949120 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 198949120 198949120 A C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.879 p.K293N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 24 0 0.00 14 11 44.00 PLD2 0 genome.wustl.edu 37 17 4711597 4711597 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 4711597 4711597 G T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.269 p.R90L 0.060 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 35 0 0.00 31 2 6.06 PLXNB1 0 genome.wustl.edu 37 3 48462114 48462114 + Missense_Mutation SNP T T A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 48462114 48462114 T A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.1988 p.K663M 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 53 0 0.00 38 16 29.63 PODNL1 0 genome.wustl.edu 37 19 14044255 14044255 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 14044255 14044255 G A SNP PODNL1 ENST00000339560 human ensembl 74_37 -1 known missense c.802 p.L268F 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 tier1 - - 68 0 0.00 70 31 30.69 POLQ 0 genome.wustl.edu 37 3 121208513 121208513 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 121208513 121208513 T G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.3265 p.T1089P 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 46 0 0.00 21 12 36.36 PPP1R12C 0 genome.wustl.edu 37 19 55614912 55614912 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 55614912 55614912 C T SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.596 p.R199Q 0.995 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 52 0 0.00 26 3 10.34 PRDM16 0 genome.wustl.edu 37 1 3328688 3328688 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 3328688 3328688 G T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1927 p.A643S 0.088 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 99 0 0.00 47 34 41.98 PREX2 0 genome.wustl.edu 37 8 68930087 68930087 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 8 68930087 68930087 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.148 p.L50V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 - - 52 0 0.00 80 8 9.09 PRICKLE4 0 genome.wustl.edu 37 6 41752707 41752707 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 6 41752707 41752707 G A SNP PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known missense c.275 p.R92Q 0.048 pfam_PET_domain pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 tier1 rs200826892 - 78 0 0.00 52 5 8.77 PRRX1 0 genome.wustl.edu 37 1 170699423 170699423 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 170699423 170699423 C T SNP PRRX1 ENST00000367760 human ensembl 74_37 +1 known missense c.605 p.S202L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 88 0 0.00 88 7 7.37 PRSS1 0 genome.wustl.edu 37 7 142457375 142457375 + Missense_Mutation SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 142457375 142457375 C G SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.40 p.L14V 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 123 0 0.00 84 36 30.00 PTCHD2 0 genome.wustl.edu 37 1 11561653 11561653 + Nonsense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 11561653 11561653 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known nonsense c.604 p.R202* 0.005 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 16 0 0.00 4 6 60.00 PTGES3 0 genome.wustl.edu 37 12 57057823 57057823 + RNA SNP T T A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 57057823 57057823 T A SNP PTGES3 ENST00000537473 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors PTGES3 HGNC ENSG00000110958 tier1 - - 35 0 0.00 22 15 40.54 RAB11FIP4 0 genome.wustl.edu 37 17 29848204 29848204 + Missense_Mutation SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 29848204 29848204 C G SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known missense c.584 p.S195C 0.691 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 tier1 - - 99 0 0.00 88 14 13.73 RGPD3 0 genome.wustl.edu 37 2 107073461 107073461 + Missense_Mutation SNP A A T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 107073461 107073461 A T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.371 p.L124H 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 288 0 0.00 351 84 19.27 RHBG 0 genome.wustl.edu 37 1 156347811 156347811 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 156347811 156347811 C T SNP RHBG ENST00000368246 human ensembl 74_37 +1 known silent c.405 p.A135 0.473 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 tier1 - - 72 0 0.00 55 15 21.43 RNF113A 0 genome.wustl.edu 37 X 119005267 119005267 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 119005267 119005267 G A SNP RNF113A ENST00000371442 human ensembl 74_37 -1 known missense c.310 p.R104C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 tier1 - - 21 0 0.00 9 13 59.09 RNFT2 0 genome.wustl.edu 37 12 117187991 117187991 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 117187991 117187991 C T SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known silent c.429 p.D143 0.891 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 tier1 - - 72 0 0.00 38 16 29.63 ROBO2 0 genome.wustl.edu 37 3 77681664 77681664 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 77681664 77681664 A G SNP ROBO2 ENST00000332191 human ensembl 74_37 +1 novel missense c.3800 p.D1267G 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 84 0 0.00 40 19 32.20 RPL10L 0 genome.wustl.edu 37 14 47120380 47120380 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 47120380 47120380 T C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.560 p.K187R 0.188 pirsf_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 64 0 0.00 65 22 25.29 RPLP1 0 genome.wustl.edu 37 15 69745321 69745321 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 69745321 69745321 T C SNP RPLP1 ENST00000260379 human ensembl 74_37 +1 known missense c.34 p.S12P 1.000 NULL pfam_Ribosomal_L10/L12 - no_errors RPLP1 HGNC ENSG00000137818 tier1 - - 57 0 0.00 49 11 18.33 SCN3A 0 genome.wustl.edu 37 2 165948863 165948863 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 165948863 165948863 T G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4708 p.T1570P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 82 0 0.00 69 37 34.91 SDCCAG3 0 genome.wustl.edu 37 9 139299575 139299575 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 139299575 139299575 G T SNP SDCCAG3 ENST00000357365 human ensembl 74_37 -1 known missense c.973 p.Q325K 0.997 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 tier1 - - 52 0 0.00 47 4 7.84 SDK1 0 genome.wustl.edu 37 7 4188896 4188896 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 4188896 4188896 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4426 p.R1476W 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 96 0 0.00 51 26 33.77 SEMG2 0 genome.wustl.edu 37 20 43851408 43851408 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 20 43851408 43851408 G A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1135 p.E379K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 tier1 - - 21 0 0.00 20 20 50.00 SHISA9 0 genome.wustl.edu 37 16 12996200 12996200 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 12996200 12996200 C T SNP SHISA9 ENST00000558583 human ensembl 74_37 +1 known silent c.402 p.G134 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 tier1 - - 63 0 0.00 36 17 32.08 SI 0 genome.wustl.edu 37 3 164712164 164712164 + Silent SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 164712164 164712164 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.4722 p.T1574 0.064 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 47 0 0.00 15 14 48.28 SIAE 0 genome.wustl.edu 37 11 124530643 124530643 + Nonsense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 124530643 124530643 C A SNP SIAE ENST00000263593 human ensembl 74_37 -1 known nonsense c.286 p.E96* 0.342 NULL pfam_DUF303_acetylest - no_errors SIAE HGNC ENSG00000110013 tier1 - - 51 0 0.00 42 21 33.33 SLC27A6 0 genome.wustl.edu 37 5 128302146 128302146 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 128302146 128302146 G A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.316 p.D106N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 79 0 0.00 69 4 5.48 SLC4A9 0 genome.wustl.edu 37 5 139740344 139740344 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 139740344 139740344 C T SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known silent c.250 p.L84 0.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 79 0 0.00 45 27 37.50 SLC6A11 0 genome.wustl.edu 37 3 10979946 10979946 + Missense_Mutation SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 10979946 10979946 A G SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.1757 p.K586R 1.000 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 - - 47 0 0.00 33 13 28.26 SLC9A7P1 0 genome.wustl.edu 37 12 98849120 98849120 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 98849120 98849120 G A SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.752 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 tier1 - - 79 0 0.00 52 30 36.59 SLIT3 0 genome.wustl.edu 37 5 168149269 168149269 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 5 168149269 168149269 C T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.2475 p.L825 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 129 0 0.00 77 35 31.25 SMCO2 0 genome.wustl.edu 37 12 27648657 27648657 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 27648657 27648657 G T SNP SMCO2 ENST00000416383 human ensembl 74_37 +1 known missense c.702 p.M234I 0.344 NULL NULL - no_errors SMCO2 HGNC ENSG00000165935 tier1 - - 60 0 0.00 60 4 6.25 SNORD115-10 0 genome.wustl.edu 37 15 25432688 25432688 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 25432688 25432688 G A SNP SNORD115-10 ENST00000365073 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-10 HGNC ENSG00000201943 tier1 - - 157 0 0.00 111 56 33.53 SNURF 0 genome.wustl.edu 37 15 25213158 25213158 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 25213158 25213158 T G SNP SNURF ENST00000338094 human ensembl 74_37 +1 known missense c.190 p.L64V 0.999 pfam_SNURF pfam_SNURF - no_errors SNURF Uniprot_gn ENSG00000273173 tier1 - - 82 0 0.00 51 37 42.05 SNX19 0 genome.wustl.edu 37 11 130780030 130780030 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 130780030 130780030 T G SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.1917 p.Q639H 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 tier1 - - 59 0 0.00 40 22 35.48 SPEG 0 genome.wustl.edu 37 2 220315877 220315877 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 220315877 220315877 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.2133 p.Y711 0.991 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 75 0 0.00 47 19 28.79 SREBF1 0 genome.wustl.edu 37 17 17718011 17718011 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 17718011 17718011 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.2743 p.H915Y 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 tier1 - - 37 0 0.00 4 12 75.00 SRRM2 0 genome.wustl.edu 37 16 2814390 2814390 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 2814390 2814390 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.3861 p.S1287 0.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 25 0 0.00 23 14 37.84 SRRM3 0 genome.wustl.edu 37 7 75915131 75915131 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 75915131 75915131 C T SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.1933 p.R645W 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 tier1 - - 59 0 0.00 46 28 37.84 STAMBP 0 genome.wustl.edu 37 2 74071769 74071769 + RNA SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 74071769 74071769 G A SNP STAMBP ENST00000478946 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors STAMBP HGNC ENSG00000124356 tier1 - - 21 0 0.00 9 4 30.77 STARD9 0 genome.wustl.edu 37 15 42987387 42987387 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 42987387 42987387 T G SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.13012 p.L4338V 1.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 43 0 0.00 10 17 62.96 STARD9 0 genome.wustl.edu 37 15 42981481 42981481 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 15 42981481 42981481 G T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.7705 p.V2569L 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 41 0 0.00 30 4 11.76 STOX2 0 genome.wustl.edu 37 4 184932575 184932575 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 4 184932575 184932575 C T SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.2584 p.R862C 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 tier1 rs201760642 - 80 0 0.00 16 21 56.76 TAF1L 0 genome.wustl.edu 37 9 32631964 32631964 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 32631964 32631964 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3614 p.R1205Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 68 0 0.00 45 18 28.57 TAOK1 0 genome.wustl.edu 37 17 27844497 27844497 + Silent SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 17 27844497 27844497 C A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known silent c.1731 p.P577 0.263 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 8 0 0.00 20 2 9.09 TBC1D20 0 genome.wustl.edu 37 20 418414 418414 + RNA DEL T T - TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 20 418414 418414 T - DEL TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 41 0 0.00 58 4 6.45 TBX15 0 genome.wustl.edu 37 1 119427940 119427940 + Silent SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 119427940 119427940 A G SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.906 p.A302 0.985 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 tier1 - - 38 0 0.00 24 13 35.14 TEX40 0 genome.wustl.edu 37 11 64068305 64068305 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 64068305 64068305 C T SNP TEX40 ENST00000328404 human ensembl 74_37 +1 known silent c.198 p.H66 0.002 NULL NULL - no_errors TEX40 HGNC ENSG00000219435 tier1 - - 33 0 0.00 37 7 15.91 TNC 0 genome.wustl.edu 37 9 117825202 117825202 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 117825202 117825202 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.4027 p.V1343I 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 rs145446426 - 72 0 0.00 81 9 10.00 TNC 0 genome.wustl.edu 37 9 117849341 117849341 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 117849341 117849341 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.669 p.S223 0.002 pfam_EGF_extracell,smart_EG-like_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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 49 0 0.00 42 12 22.22 TOX3 0 genome.wustl.edu 37 16 52484428 52484428 + Silent SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 52484428 52484428 G T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known silent c.439 p.R147 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 51 0 0.00 44 3 6.38 TRIM49B 0 genome.wustl.edu 37 11 49055833 49055833 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 11 49055833 49055833 A C SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.643 p.S215R 0.002 NULL 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 - - 411 0 0.00 279 139 33.25 TSC22D2 0 genome.wustl.edu 37 3 150127665 150127665 + Silent SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 150127665 150127665 A G SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known silent c.528 p.R176 0.650 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 tier1 - - 48 0 0.00 16 9 36.00 TSPAN33 0 genome.wustl.edu 37 7 128807245 128807245 + Silent SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 128807245 128807245 G T SNP TSPAN33 ENST00000289407 human ensembl 74_37 +1 known silent c.594 p.V198 0.993 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN33 HGNC ENSG00000158457 45 0 0.00 43 3 6.52 TTC3 0 genome.wustl.edu 37 21 38460488 38460489 + RNA INS - - A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 21 38460488 38460489 - A INS TTC3 ENST00000484047 human ensembl 74_37 +1 known rna NULL NULL 0.276:0.200 - - - no_errors TTC3 HGNC ENSG00000182670 tier1 27 0 0.00 16 11 40.74 TTN 0 genome.wustl.edu 37 2 179411395 179411395 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 179411395 179411395 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.87056 p.K29019R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 29 0 0.00 18 10 35.71 TTN 0 genome.wustl.edu 37 2 179486721 179486721 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 179486721 179486721 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.37224 p.K12408N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 73 0 0.00 48 14 22.58 TUBB3 0 genome.wustl.edu 37 16 90002059 90002059 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 90002059 90002059 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.1200 p.G400 0.999 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 105 0 0.00 90 9 9.09 TUBGCP6 0 genome.wustl.edu 37 22 50656356 50656356 + Missense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 22 50656356 50656356 G T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.5359 p.L1787I 1.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 73 0 0.00 31 20 39.22 UBA7 0 genome.wustl.edu 37 3 49851333 49851333 + RNA SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 49851333 49851333 A G SNP UBA7 ENST00000494212 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UBA7 HGNC ENSG00000182179 tier1 - - 43 0 0.00 22 19 46.34 UNC80 0 genome.wustl.edu 37 2 210685242 210685242 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 210685242 210685242 A C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.2170 p.S724R 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 83 0 0.00 64 35 35.35 USP15 0 genome.wustl.edu 37 12 62749183 62749183 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 12 62749183 62749183 G A SNP USP15 ENST00000280377 human ensembl 74_37 +1 known missense c.842 p.R281K 1.000 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 tier1 - - 73 0 0.00 45 24 34.78 USP26 0 genome.wustl.edu 37 X 132161204 132161205 + Frame_Shift_Ins INS - - A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca X 132161204 132161205 - A INS USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_ins c.1045_1044 p.K348fs 0.813:0.541 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 48 0 0.00 19 36 65.45 VPS36 0 genome.wustl.edu 37 13 52997736 52997736 + Nonsense_Mutation SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 13 52997736 52997736 G T SNP VPS36 ENST00000378060 human ensembl 74_37 -1 known nonsense c.813 p.C271* 1.000 pfam_EAP30 pfam_EAP30,pfam_VPS36_GLUE - no_errors VPS36 HGNC ENSG00000136100 tier1 - - 27 0 0.00 25 4 13.79 WDR78 0 genome.wustl.edu 37 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 1 67301382 67301382 C T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.1660 p.V554I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 44 0 0.00 33 3 8.33 ZFYVE26 0 genome.wustl.edu 37 14 68228075 68228075 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 14 68228075 68228075 T G SNP ZFYVE26 ENST00000555452 human ensembl 74_37 -1 putative missense c.6596 p.H2199P 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 76 0 0.00 71 13 15.48 ZIC4 0 genome.wustl.edu 37 3 147105967 147105967 + RNA SNP C C G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 147105967 147105967 C G SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 24 0 0.00 9 7 43.75 ZIC4 0 genome.wustl.edu 37 3 147121771 147121771 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 147121771 147121771 T G SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.115 p.N39H 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 57 0 0.00 12 17 58.62 ZKSCAN7 0 genome.wustl.edu 37 3 44598919 44598919 + Missense_Mutation SNP C C A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 3 44598919 44598919 C A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.380 p.A127D 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 42 0 0.00 35 6 14.63 ZNF208 0 genome.wustl.edu 37 19 22156000 22156000 + Missense_Mutation SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 22156000 22156000 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1836 p.E612D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 70 0 0.00 67 12 15.19 ZNF23 0 genome.wustl.edu 37 16 71482989 71482989 + Silent SNP A A G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 71482989 71482989 A G SNP ZNF23 ENST00000357254 human ensembl 74_37 -1 known silent c.939 p.C313 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 tier1 - - 90 0 0.00 32 20 38.46 ZNF267 0 genome.wustl.edu 37 16 31925958 31925958 + Missense_Mutation SNP G G C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 16 31925958 31925958 G C SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.388 p.D130H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 tier1 - - 58 0 0.00 38 15 28.30 ZNF43 0 genome.wustl.edu 37 19 22034809 22034809 + RNA SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 22034809 22034809 C T SNP ZNF43 ENST00000594312 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNF43 HGNC ENSG00000198521 tier1 - - 11 0 0.00 10 6 37.50 ZNF649 0 genome.wustl.edu 37 19 52399785 52399785 + Missense_Mutation SNP A A C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 52399785 52399785 A C SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known missense c.178 p.L60V 0.010 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF649 HGNC ENSG00000198093 tier1 - - 101 0 0.00 70 29 29.29 ZNF804A 0 genome.wustl.edu 37 2 185800768 185800768 + Silent SNP T T G TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 2 185800768 185800768 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.645 p.S215 0.998 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 35 0 0.00 34 21 38.18 ZNF883 0 genome.wustl.edu 37 9 115760206 115760206 + RNA SNP G G T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 9 115760206 115760206 G T SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.463 - - - no_errors ZNF883 HGNC ENSG00000228623 44 0 0.00 47 3 6.00 ZNF98 0 genome.wustl.edu 37 19 22575670 22575670 + Missense_Mutation SNP T T C TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 19 22575670 22575670 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.367 p.R123G 0.080 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 86 0 0.00 50 25 33.33 ZNHIT1 0 genome.wustl.edu 37 7 100865991 100865991 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0100a84-b16a-432c-935b-67a81d52dbb4 de784953-ec41-44ff-bd65-be7385844fca 7 100865991 100865991 C T SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known silent c.129 p.D43 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 tier1 - - 105 0 0.00 58 31 34.83