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 A1CF 0 genome.wustl.edu 37 10 52595965 52595965 + Frame_Shift_Del DEL T T - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 10 52595965 52595965 T - DEL A1CF ENST00000282641 human ensembl 74_37 -1 known frame_shift_del c.473 p.K158fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 tier1 53 0 0.00 34 3 8.11 AMHR2 0 genome.wustl.edu 37 12 53819645 53819645 + Frame_Shift_Del DEL G G - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 12 53819645 53819645 G - DEL AMHR2 ENST00000257863 human ensembl 74_37 +1 known frame_shift_del c.794 p.G267fs 0.935 pirsf_Anti-muellerian_hrmn_rcpt_II,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 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 tier1 21 0 0.00 18 3 14.29 ASUN 0 genome.wustl.edu 37 12 27059296 27059296 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 12 27059296 27059296 C T SNP ASUN ENST00000261191 human ensembl 74_37 -1 known missense c.2020 p.G674R 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 tier1 - - 85 0 0.00 65 4 5.80 BMPER 0 genome.wustl.edu 37 7 34094885 34094885 + Missense_Mutation SNP A A C TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 7 34094885 34094885 A C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.897 p.K299N 0.407 pfscan_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 tier1 - - 53 0 0.00 46 8 14.81 BSN 0 genome.wustl.edu 37 3 49694019 49694019 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 3 49694019 49694019 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.7030 p.G2344C 0.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 31 0 0.00 18 4 18.18 C11orf40 0 genome.wustl.edu 37 11 4593445 4593445 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 4593445 4593445 G T SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.388 p.H130N 0.008 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 tier1 - - 55 0 0.00 51 4 7.14 C16orf46 0 genome.wustl.edu 37 16 81097443 81097443 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 16 81097443 81097443 G T SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known missense c.118 p.H40N 1.000 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 tier1 - - 108 0 0.00 60 5 7.69 C18orf63 0 genome.wustl.edu 37 18 72020514 72020514 + Frame_Shift_Del DEL A A - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 18 72020514 72020514 A - DEL C18orf63 ENST00000579455 human ensembl 74_37 +1 known frame_shift_del c.1012 p.M340fs 0.996 NULL NULL - no_errors C18orf63 HGNC ENSG00000206043 tier1 42 0 0.00 25 2 7.41 C2orf40 0 genome.wustl.edu 37 2 106690395 106690395 + Missense_Mutation SNP T T G TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 106690395 106690395 T G SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known missense c.181 p.F61V 0.988 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 tier1 - - 58 0 0.00 50 6 10.71 C4orf47 0 genome.wustl.edu 37 4 186366117 186366117 + Splice_Site SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 4 186366117 186366117 G T SNP C4orf47 ENST00000378850 human ensembl 74_37 +1 known splice_site c.715-1 e6-1 0.994 - - - no_errors C4orf47 HGNC ENSG00000205129 58 0 0.00 47 3 6.00 CBLC 0 genome.wustl.edu 37 19 45295697 45295697 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 19 45295697 45295697 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.1063 p.A355T 0.995 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 22 0 0.00 13 2 13.33 CCDC40 0 genome.wustl.edu 37 17 78032330 78032330 + Silent SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 17 78032330 78032330 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.1197 p.L399 0.769 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 56 0 0.00 38 4 9.52 CCDC81 0 genome.wustl.edu 37 11 86123434 86123434 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 86123434 86123434 C T SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known silent c.1224 p.S408 0.954 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 40 0 0.00 21 2 8.70 CIDEA 0 genome.wustl.edu 37 18 12264413 12264413 + Silent SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 18 12264413 12264413 G A SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known silent c.291 p.T97 0.797 pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 tier1 rs139265687 - 75 0 0.00 36 4 10.00 CNPY1 0 genome.wustl.edu 37 7 155299757 155299757 + Frame_Shift_Del DEL C C - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 7 155299757 155299757 C - DEL CNPY1 ENST00000321736 human ensembl 74_37 -1 putative frame_shift_del c.199 p.E67fs 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 tier1 60 0 0.00 12 2 14.29 DAPK2 0 genome.wustl.edu 37 15 64200718 64200718 + RNA SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 15 64200718 64200718 G T SNP DAPK2 ENST00000559731 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DAPK2 HGNC ENSG00000035664 tier1 - - 72 0 0.00 37 4 9.76 DCT 0 genome.wustl.edu 37 13 95131226 95131226 + Missense_Mutation SNP C C A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 13 95131226 95131226 C A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.284 p.C95F 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 49 0 0.00 33 4 10.81 DEPTOR 0 genome.wustl.edu 37 8 121013914 121013914 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 8 121013914 121013914 G T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.755 p.S252I 0.993 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 tier1 - - 81 0 0.00 43 4 8.51 DOK5 0 genome.wustl.edu 37 20 53092463 53092463 + RNA DEL G G - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 20 53092463 53092463 G - DEL DOK5 ENST00000491469 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DOK5 HGNC ENSG00000101134 tier1 29 0 0.00 24 2 7.69 ENSG00000237126 0 genome.wustl.edu 37 2 233445900 233445900 + RNA DEL G G - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 233445900 233445900 G - DEL ENSG00000237126 ENST00000415506 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC073254.1 Clone_based_vega_gene ENSG00000237126 tier1 55 0 0.00 24 2 7.69 FBXO16 0 genome.wustl.edu 37 8 28309933 28309933 + Nonsense_Mutation SNP C C A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 8 28309933 28309933 C A SNP FBXO16 ENST00000521548 human ensembl 74_37 -1 known nonsense c.568 p.E190* 0.106 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO16 HGNC ENSG00000214050 90 0 0.00 72 4 5.26 FOXR1 0 genome.wustl.edu 37 11 118850248 118850248 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 118850248 118850248 C T SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known missense c.481 p.R161W 0.778 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 49 0 0.00 36 2 5.26 FZD7 0 genome.wustl.edu 37 2 202899867 202899867 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 202899867 202899867 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.497 p.S166L 0.999 superfamily_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 56 0 0.00 25 3 10.71 GORASP2 0 genome.wustl.edu 37 2 171818224 171818224 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 171818224 171818224 C T SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.911 p.S304F 0.989 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 58 0 0.00 34 2 5.56 GZMK 0 genome.wustl.edu 37 5 54320619 54320619 + Frame_Shift_Del DEL G G - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 54320619 54320619 G - DEL GZMK ENST00000231009 human ensembl 74_37 +1 known frame_shift_del c.196 p.A66fs 0.999 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 tier1 44 0 0.00 34 2 5.56 HIVEP2 0 genome.wustl.edu 37 6 143095479 143095479 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 6 143095479 143095479 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.397 p.V133I 0.726 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 39 0 0.00 35 2 5.41 HRH4 0 genome.wustl.edu 37 18 22057140 22057140 + Missense_Mutation SNP T T C TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 18 22057140 22057140 T C SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.787 p.S263P 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 25 0 0.00 31 3 8.82 HSD3B7 0 genome.wustl.edu 37 16 30998318 30998318 + Missense_Mutation SNP A A T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 16 30998318 30998318 A T SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.689 p.Y230F 1.000 pfam_3Beta_OHSteriod_DH/Estase pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 14 0 0.00 19 4 17.39 INTS7 0 genome.wustl.edu 37 1 212142051 212142052 + Splice_Site INS - - G TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 1 212142051 212142052 - G INS INTS7 ENST00000440600 human ensembl 74_37 -1 known splice_site_ins c.1669-3_1669-2 e13-2 0.998:0.652 - - - no_errors INTS7 HGNC ENSG00000143493 tier1 14 0 0.00 10 4 28.57 IRX6 0 genome.wustl.edu 37 16 55362817 55362817 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 16 55362817 55362817 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known silent c.927 p.C309 0.170 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 34 0 0.00 35 2 5.41 JAKMIP2 0 genome.wustl.edu 37 5 147040519 147040519 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 147040519 147040519 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.619 p.R207W 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 52 0 0.00 29 6 17.14 KAT7 0 genome.wustl.edu 37 17 47893185 47893185 + Silent SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 17 47893185 47893185 G T SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.873 p.G291 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 76 0 0.00 76 4 5.00 KIAA0922 0 genome.wustl.edu 37 4 154395024 154395024 + Missense_Mutation SNP C C A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 4 154395024 154395024 C A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.223 p.P75T 0.982 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 - - 79 0 0.00 55 11 16.67 KRT38 0 genome.wustl.edu 37 17 39596806 39596806 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 17 39596806 39596806 C T SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known missense c.368 p.R123H 0.007 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 64 0 0.00 51 3 5.56 KRT8 0 genome.wustl.edu 37 12 53298675 53298675 + Missense_Mutation SNP A A C TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 12 53298675 53298675 A C SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.91 p.S31A 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 87 0 0.00 51 3 5.36 LCN12 0 genome.wustl.edu 37 9 139846877 139846877 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 9 139846877 139846877 G T SNP LCN12 ENST00000371633 human ensembl 74_37 +1 known missense c.98 p.S33I 0.205 superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase - no_errors LCN12 HGNC ENSG00000184925 tier1 - - 148 0 0.00 70 4 5.41 LRP1 0 genome.wustl.edu 37 12 57579402 57579402 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 12 57579402 57579402 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.6552 p.H2184 0.311 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 27 0 0.00 12 2 14.29 MAG 0 genome.wustl.edu 37 19 35786626 35786626 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 19 35786626 35786626 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.157 p.A53T 0.466 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 52 0 0.00 32 2 5.88 MATK 0 genome.wustl.edu 37 19 3779411 3779411 + Silent SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 19 3779411 3779411 G T SNP MATK ENST00000395045 human ensembl 74_37 -1 known silent c.969 p.A323 0.860 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 - - 47 0 0.00 24 4 14.29 MIR3648 0 genome.wustl.edu 37 21 9825838 9825839 + RNA INS - - GCG TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 21 9825838 9825839 - GCG INS MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.061:0.061 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 37 0 0.00 18 4 18.18 MIR4435-1HG 0 genome.wustl.edu 37 2 112252633 112252633 + RNA DEL A A - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 112252633 112252633 A - DEL MIR4435-1HG ENST00000409569 human ensembl 74_37 -1 known rna NULL NULL 0.775 - - - no_errors MIR4435-1HG HGNC ENSG00000172965 tier1 56 0 0.00 26 3 10.34 MRPS36 0 genome.wustl.edu 37 5 68522214 68522214 + Missense_Mutation SNP A A G TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 68522214 68522214 A G SNP MRPS36 ENST00000256441 human ensembl 74_37 +1 known missense c.92 p.N31S 0.996 NULL NULL - no_errors MRPS36 HGNC ENSG00000134056 tier1 - - 130 0 0.00 74 6 7.41 MT-CO2 0 genome.wustl.edu 37 MT 7678 7678 + Silent SNP T T C TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 MT 7678 7678 T C SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.93 p.I31 NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 1172 0 0.00 371 328 46.92 MYO6 0 genome.wustl.edu 37 6 76545674 76545674 + Splice_Site SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 6 76545674 76545674 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known splice_site c.553+1 e6+1 1.000 - - - no_errors MYO6 HGNC ENSG00000196586 62 0 0.00 46 3 6.12 MYO7A 0 genome.wustl.edu 37 11 76917248 76917248 + Splice_Site SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 76917248 76917248 G A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known splice_site c.5742+1 e40+1 1.000 - - - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 64 0 0.00 26 4 13.33 NCKAP5 0 genome.wustl.edu 37 2 133540922 133540922 + Missense_Mutation SNP C C A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 133540922 133540922 C A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3462 p.M1154I 0.999 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 31 0 0.00 32 2 5.88 NMUR2 0 genome.wustl.edu 37 5 151784588 151784588 + Silent SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 151784588 151784588 G A SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known silent c.87 p.T29 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 54 0 0.00 26 3 10.34 NOL4 0 genome.wustl.edu 37 18 31599294 31599294 + Missense_Mutation SNP T T A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 18 31599294 31599294 T A SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1044 p.E348D 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 42 0 0.00 20 5 20.00 NRROS 0 genome.wustl.edu 37 3 196386811 196386811 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 3 196386811 196386811 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.297 p.G99 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 49 0 0.00 36 2 5.26 NTRK2 0 genome.wustl.edu 37 9 87317098 87317098 + Frame_Shift_Del DEL A A - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 9 87317098 87317098 A - DEL NTRK2 ENST00000277120 human ensembl 74_37 +1 known frame_shift_del c.237 p.E80fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 tier1 60 0 0.00 19 2 9.52 OR51A7 0 genome.wustl.edu 37 11 4929304 4929304 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 4929304 4929304 G T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.705 p.K235N 0.771 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 34 0 0.00 29 2 6.45 OVCH2 0 genome.wustl.edu 37 11 7718062 7718062 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 7718062 7718062 G T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known missense c.1091 p.S364Y 0.830 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 51 0 0.00 27 2 6.90 PADI3 0 genome.wustl.edu 37 1 17596826 17596826 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 1 17596826 17596826 G T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.751 p.V251L 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 46 0 0.00 38 2 5.00 PPP1R37 0 genome.wustl.edu 37 19 45641792 45641792 + Nonsense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 19 45641792 45641792 G T SNP PPP1R37 ENST00000221462 human ensembl 74_37 +1 known nonsense c.223 p.E75* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 tier1 - - 60 0 0.00 45 4 8.00 PROM2 0 genome.wustl.edu 37 2 95943191 95943191 + Silent SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 95943191 95943191 G A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known silent c.852 p.E284 0.001 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 30 0 0.00 24 3 11.11 PROM2 0 genome.wustl.edu 37 2 95943192 95943192 + Missense_Mutation SNP C C G TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 95943192 95943192 C G SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.853 p.P285A 0.001 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 30 0 0.00 23 3 11.54 RGS3 0 genome.wustl.edu 37 9 116353678 116353678 + Splice_Site SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 9 116353678 116353678 G T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known splice_site c.3080+1 e21+1 1.000 - - - no_errors RGS3 HGNC ENSG00000138835 46 0 0.00 34 2 5.56 SCAMP1 0 genome.wustl.edu 37 5 77772627 77772628 + RNA INS - - A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 77772627 77772628 - A INS SCAMP1 ENST00000320280 human ensembl 74_37 +1 known rna NULL NULL 0.258:0.109 - - - no_errors SCAMP1 HGNC ENSG00000085365 tier1 41 0 0.00 26 4 13.33 SLC17A1 0 genome.wustl.edu 37 6 25813138 25813138 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 6 25813138 25813138 G A SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known missense c.818 p.T273M 0.004 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 tier1 rs144074233 - 85 0 0.00 67 4 5.63 SLC9A5 0 genome.wustl.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 16 67300017 67300019 GAG - DEL SLC9A5 ENST00000299798 human ensembl 74_37 +1 known in_frame_del c.2107_2109 p.E706in_frame_del 1.000:1.000:1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 41 0 0.00 26 3 10.34 SLITRK1 0 genome.wustl.edu 37 13 84453964 84453964 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 13 84453964 84453964 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1679 p.T560M 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 23 0 0.00 18 4 18.18 SMARCE1 0 genome.wustl.edu 37 17 38798687 38798687 + Missense_Mutation SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 17 38798687 38798687 G T SNP SMARCE1 ENST00000474246 human ensembl 74_37 -1 putative missense c.176 p.T59K 1.000 NULL NULL - no_errors SMARCE1 HGNC ENSG00000073584 tier1 - - 68 0 0.00 70 4 5.41 SNCAIP 0 genome.wustl.edu 37 5 121758673 121758673 + Missense_Mutation SNP C C A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 5 121758673 121758673 C A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.382 p.P128T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 56 0 0.00 51 4 7.27 ST18 0 genome.wustl.edu 37 8 53092686 53092686 + Silent SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 8 53092686 53092686 G T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known silent c.273 p.T91 0.002 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 55 0 0.00 38 2 5.00 TAS2R19 0 genome.wustl.edu 37 12 11175145 11175145 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 12 11175145 11175145 G A SNP TAS2R19 ENST00000390673 human ensembl 74_37 -1 known missense c.26 p.S9L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 28 0 0.00 25 2 7.41 TENM4 0 genome.wustl.edu 37 11 78381103 78381103 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 78381103 78381103 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6287 p.A2096V 0.999 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 28 0 0.00 17 2 10.53 TMPRSS4 0 genome.wustl.edu 37 11 117988633 117988633 + RNA SNP G G T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 11 117988633 117988633 G T SNP TMPRSS4 ENST00000518413 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 28 0 0.00 13 3 18.75 TNPO3 0 genome.wustl.edu 37 7 128607386 128607386 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 7 128607386 128607386 C T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.2761 p.A921T 1.000 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 65 0 0.00 51 4 7.27 TTN 0 genome.wustl.edu 37 2 179424596 179424596 + Missense_Mutation SNP C C G TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 2 179424596 179424596 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78559 p.D26187H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 - - 39 0 0.00 18 7 28.00 WDTC1 0 genome.wustl.edu 37 1 27609833 27609833 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 1 27609833 27609833 C T SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known silent c.184 p.L62 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 39 0 0.00 26 3 10.00 ZBTB20 0 genome.wustl.edu 37 3 114070249 114070249 + Missense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 3 114070249 114070249 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.676 p.D226N 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 25 0 0.00 14 4 22.22 ZNF609 0 genome.wustl.edu 37 15 64966761 64966761 + Nonsense_Mutation SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 15 64966761 64966761 C T SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known nonsense c.1708 p.R570* 0.983 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 - - 24 0 0.00 20 3 13.04 ZNF609 0 genome.wustl.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 15 64967246 64967247 - A INS ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_ins c.2193_2194 p.K734fs 1.000:1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 43 0 0.00 28 2 6.67 ZWINT 0 genome.wustl.edu 37 10 58119778 58119778 + Splice_Site SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c3a0d49-db87-481c-a231-832550107f70 2c8f52f4-5ed0-440b-a6c7-783e59ff7ee2 10 58119778 58119778 C T SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known splice_site c.256+1 e3+1 1.000 - - - no_errors ZWINT HGNC ENSG00000122952 20 0 0.00 14 2 12.50