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 AARS2 0 genome.wustl.edu 37 6 44272859 44272859 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 44272859 44272859 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.1511 p.R504H 0.015 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 39 0 0.00 38 4 9.52 ABCC2 0 genome.wustl.edu 37 10 101560169 101560169 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 10 101560169 101560169 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.1058 p.R353L 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 61 0 0.00 65 4 5.80 ADCK4 0 genome.wustl.edu 37 19 41209522 41209522 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 41209522 41209522 G A SNP ADCK4 ENST00000599643 human ensembl 74_37 -1 known missense c.341 p.P114L 0.753 NULL NULL - no_errors ADCK4 HGNC ENSG00000123815 tier1 - - 19 0 0.00 26 12 31.58 AFF1 0 genome.wustl.edu 37 4 88029432 88029432 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 88029432 88029432 G A SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.1498 p.E500K 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 tier1 - - 57 0 0.00 44 20 31.25 AJAP1 0 genome.wustl.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 4772583 4772585 CCA 0 DEL AJAP1 ENST00000378190 human ensembl 74_37 +1 known in_frame_del c.653_655 p.T222in_frame_del 0.919:0.855:0.873 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 79 0 0.00 71 4 5.33 ALG13 0 genome.wustl.edu 37 X 110988002 110988002 + Silent SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 110988002 110988002 T A SNP ALG13 ENST00000394780 human ensembl 74_37 +1 putative silent c.2802 p.P934 0.000 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 14 0 0.00 18 4 18.18 ANKFN1 0 genome.wustl.edu 37 17 54576434 54576434 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 54576434 54576434 G A SNP ANKFN1 ENST00000566473 human ensembl 74_37 +1 novel silent c.2628 p.E876 0.968 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 48 0 0.00 48 14 22.58 ANKS1A 0 genome.wustl.edu 37 6 35050978 35050978 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 35050978 35050978 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.2882 p.T961M 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 26 0 0.00 32 2 5.88 ANO4 0 genome.wustl.edu 37 12 101188779 101188781 + RNA DEL CTT CTT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 101188779 101188781 CTT - DEL ANO4 ENST00000551148 human ensembl 74_37 +1 putative rna NULL NULL 0.788:0.913:0.909 - - - no_errors ANO4 HGNC ENSG00000151572 tier1 78 0 0.00 41 18 30.51 ARFGEF1 0 genome.wustl.edu 37 8 68111035 68111035 + RNA SNP G G C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 68111035 68111035 G C SNP ARFGEF1 ENST00000517955 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 64 0 0.00 65 20 23.53 ARSJ 0 genome.wustl.edu 37 4 114823764 114823764 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 114823764 114823764 G T SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.1466 p.T489N 0.048 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 73 0 0.00 66 4 5.71 ASB16-AS1 0 genome.wustl.edu 37 17 42254032 42254032 + RNA SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 42254032 42254032 G T SNP ASB16-AS1 ENST00000585457 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB16-AS1 HGNC ENSG00000267080 53 0 0.00 66 4 5.71 ASB8 0 genome.wustl.edu 37 12 48543170 48543173 + Frame_Shift_Del DEL TTCC TTCC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TTCC TTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 48543170 48543173 TTCC - DEL ASB8 ENST00000317697 human ensembl 74_37 -1 known frame_shift_del c.846_843 p.K281fs 0.993:1.000:1.000:0.999 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB8 HGNC ENSG00000177981 tier1 37 0 0.00 21 10 32.26 ASXL1 0 genome.wustl.edu 37 20 31022592 31022592 + Nonsense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 31022592 31022592 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known nonsense c.2077 p.R693* 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 62 0 0.00 56 38 40.43 ATRN 0 genome.wustl.edu 37 20 3564710 3564710 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 3564710 3564710 A G SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2930 p.Y977C 1.000 pfam_Plexin_repeat,smart_Plexin-like_fold pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 54 0 0.00 46 21 31.34 B4GALNT1 0 genome.wustl.edu 37 12 58023911 58023911 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 58023911 58023911 C T SNP B4GALNT1 ENST00000550764 human ensembl 74_37 -1 putative missense c.736 p.G246R 0.000 NULL NULL - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 64 0 0.00 30 16 34.78 B4GALT6 0 genome.wustl.edu 37 18 29264323 29264325 + In_Frame_Del DEL AGA AGA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 18 29264323 29264325 AGA - DEL B4GALT6 ENST00000306851 human ensembl 74_37 -1 known in_frame_del c.67_65 p.F22in_frame_del 1.000:1.000:1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 tier1 89 0 0.00 51 22 30.14 BARD1 0 genome.wustl.edu 37 2 215646207 215646208 + Frame_Shift_Del DEL TT TT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 215646207 215646208 TT - DEL BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_del c.391_390 p.S131fs 0.000:0.001 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 30 0 0.00 23 27 54.00 BCKDHB 0 genome.wustl.edu 37 6 80880998 80880998 + Splice_Site SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 80880998 80880998 G A SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known splice_site c.634-1 e6-1 1.000 - - - no_errors BCKDHB HGNC ENSG00000083123 tier1 - - 181 0 0.00 176 67 27.46 BICD1 0 genome.wustl.edu 37 12 32490722 32490722 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 32490722 32490722 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2542 p.R848W 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 34 0 0.00 45 3 6.25 BID 0 genome.wustl.edu 37 22 18220885 18220887 + In_Frame_Del DEL CTT CTT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 18220885 18220887 CTT - DEL BID ENST00000317361 human ensembl 74_37 -1 known in_frame_del c.612_610 p.K204in_frame_del 1.000:1.000:1.000 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 tier1 43 0 0.00 41 16 28.07 C11orf1 0 genome.wustl.edu 37 11 111753212 111753212 + Silent SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 111753212 111753212 C A SNP C11orf1 ENST00000260276 human ensembl 74_37 +1 known silent c.166 p.R56 1.000 pfam_UPF0686 pfam_UPF0686 - no_errors C11orf1 HGNC ENSG00000137720 tier1 - - 58 0 0.00 46 12 20.69 C1QL3 0 genome.wustl.edu 37 10 16556665 16556665 + Nonsense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 10 16556665 16556665 G T SNP C1QL3 ENST00000298943 human ensembl 74_37 -1 known nonsense c.630 p.Y210* 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 tier1 - - 48 0 0.00 46 4 8.00 C22orf26 0 genome.wustl.edu 37 22 46449699 46449699 + Missense_Mutation SNP C C G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 46449699 46449699 C G SNP C22orf26 ENST00000333761 human ensembl 74_37 -1 known missense c.275 p.R92P 0.994 NULL NULL - no_errors C22orf26 HGNC ENSG00000182257 tier1 - - 16 0 0.00 12 10 43.48 CARD11 0 genome.wustl.edu 37 7 2956937 2956937 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 2956937 2956937 C A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2690 p.G897V 0.986 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 80 0 0.00 99 6 5.71 CCDC180 0 genome.wustl.edu 37 9 100079410 100079410 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 100079410 100079410 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.991 p.E331K 1.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 43 0 0.00 16 33 67.35 CCDC66 0 genome.wustl.edu 37 3 56650051 56650051 + Missense_Mutation SNP A A T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 56650051 56650051 A T SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known missense c.1813 p.T605S 0.002 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 40 0 0.00 61 5 7.58 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 51 0 0.00 32 40 55.56 CHD8 0 genome.wustl.edu 37 14 21897312 21897312 + Silent SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 21897312 21897312 C A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.1026 p.L342 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 74 0 0.00 71 36 33.64 CILP2 0 genome.wustl.edu 37 19 19653755 19653755 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 19653755 19653755 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.951 p.G317 0.989 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 85 0 0.00 84 40 32.26 CLEC14A 0 genome.wustl.edu 37 14 38725089 38725089 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 38725089 38725089 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.139 p.R47W 0.037 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 tier1 - - 16 0 0.00 18 14 43.75 CNTN5 0 genome.wustl.edu 37 11 100064338 100064338 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 100064338 100064338 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.1827 p.L609 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN5 HGNC ENSG00000149972 44 0 0.00 40 4 9.09 CNTN6 0 genome.wustl.edu 37 3 1414531 1414531 + Missense_Mutation SNP G G C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 1414531 1414531 G C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1678 p.G560R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 105 0 0.00 64 30 31.91 COL20A1 0 genome.wustl.edu 37 20 61960763 61960764 + RNA DEL TG TG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 61960763 61960764 TG - DEL COL20A1 ENST00000496810 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors COL20A1 HGNC ENSG00000101203 tier1 10 0 0.00 7 4 36.36 COMP 0 genome.wustl.edu 37 19 18899065 18899065 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 18899065 18899065 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.931 p.A311T 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 tier1 - - 45 0 0.00 25 42 61.76 CRTAP 0 genome.wustl.edu 37 3 33175722 33175722 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 33175722 33175722 G T SNP CRTAP ENST00000320954 human ensembl 74_37 +1 known missense c.1117 p.D373Y 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 tier1 - - 81 0 0.00 65 4 5.80 CSMD1 0 genome.wustl.edu 37 8 3224680 3224680 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 3224680 3224680 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2992 p.A998S 0.999 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 42 0 0.00 33 17 34.00 CYP4F8 0 genome.wustl.edu 37 19 15730494 15730494 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 15730494 15730494 G A SNP CYP4F8 ENST00000441682 human ensembl 74_37 +1 known rna NULL NULL 0.955 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 156 0 0.00 102 100 48.78 DAG1 0 genome.wustl.edu 37 3 49570287 49570287 + Silent SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 49570287 49570287 C A SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known silent c.2343 p.G781 1.000 pfam_DAG1 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 tier1 - - 27 0 0.00 15 10 40.00 DHRS7B 0 genome.wustl.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 21094331 21094333 GAA - DEL DHRS7B ENST00000395511 human ensembl 74_37 +1 known in_frame_del c.843_845 p.K285in_frame_del 0.926:0.978:0.996 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 tier1 66 0 0.00 62 24 27.91 DLC1 0 genome.wustl.edu 37 8 13357530 13357530 + Nonsense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 13357530 13357530 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known nonsense c.51 p.W17* 0.988 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 37 0 0.00 50 19 27.54 DOK3 0 genome.wustl.edu 37 5 176935396 176935396 + Missense_Mutation SNP T T G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 176935396 176935396 T G SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.382 p.I128L 1.000 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 tier1 - - 23 0 0.00 9 6 37.50 DYNC2H1 0 genome.wustl.edu 37 11 102988516 102988516 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 102988516 102988516 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.923 p.R308H 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 89 0 0.00 83 43 34.13 EFEMP1 0 genome.wustl.edu 37 2 56103786 56103786 + Missense_Mutation SNP C C G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 56103786 56103786 C G SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.852 p.E284D 0.996 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 tier1 - - 69 0 0.00 77 27 25.96 EIF1 0 genome.wustl.edu 37 17 39845176 39845176 + RNA DEL C C - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 39845176 39845176 C - DEL EIF1 ENST00000310837 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 tier1 26 0 0.00 36 9 20.00 EIF4G3 0 genome.wustl.edu 37 1 21219891 21219893 + RNA DEL TCT TCT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 21219891 21219893 TCT - DEL EIF4G3 ENST00000374933 human ensembl 74_37 -1 known rna NULL NULL 0.781:0.836:0.918 - - - no_errors EIF4G3 HGNC ENSG00000075151 tier1 19 0 0.00 14 2 12.50 ELAVL1 0 genome.wustl.edu 37 19 8028463 8028464 + Frame_Shift_Del DEL AT AT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 8028463 8028464 AT - DEL ELAVL1 ENST00000351593 human ensembl 74_37 -1 known frame_shift_del c.966_965 p.Y322fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 tier1 49 0 0.00 46 19 29.23 ENSG00000176593 0 genome.wustl.edu 37 19 58514315 58514315 + Frame_Shift_Del DEL T T - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 58514315 58514315 T - DEL ENSG00000176593 ENST00000313957 human ensembl 74_37 +1 known frame_shift_del c.54 p.F19fs 0.000 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene ENSG00000176593 tier1 21 0 0.00 21 2 8.70 ENSG00000212098 0 genome.wustl.edu 37 X 94389311 94389311 + RNA SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 94389311 94389311 T A SNP ENSG00000212098 ENST00000390809 human ensembl 74_37 +1 novel rna NULL NULL 0.003 - - - no_errors AL390966.1 Clone_based_ensembl_gene ENSG00000212098 tier1 - - 32 0 0.00 9 56 86.15 ENSG00000214733 0 genome.wustl.edu 37 8 144871591 144871591 + RNA SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 144871591 144871591 C T SNP ENSG00000214733 ENST00000534089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-429J17.8 Clone_based_vega_gene ENSG00000214733 tier1 - - 23 0 0.00 26 8 23.53 ENSG00000225996 0 genome.wustl.edu 37 1 150523469 150523469 + Frame_Shift_Del DEL T T - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 150523469 150523469 T - DEL ENSG00000225996 ENST00000538795 human ensembl 74_37 +1 known frame_shift_del c.398 p.F136fs 0.004 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene ENSG00000225996 tier1 10 0 0.00 7 4 36.36 ENSG00000235522 0 genome.wustl.edu 37 2 106471762 106471763 + RNA INS - - GA TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 106471762 106471763 - GA INS ENSG00000235522 ENST00000598281 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC009505.2 Clone_based_vega_gene ENSG00000235522 tier1 47 0 0.00 48 12 20.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793766 67793766 + RNA DEL A A - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 67793766 67793766 A - DEL ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 11 0 0.00 1 5 83.33 ENSG00000243107 0 genome.wustl.edu 37 7 91829671 91829672 + RNA INS - - T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 91829671 91829672 - T INS ENSG00000243107 ENST00000414227 human ensembl 74_37 -1 known rna NULL NULL 0.024:0.076 - - - no_errors AC000120.7 Clone_based_vega_gene ENSG00000243107 tier1 18 0 0.00 18 4 18.18 ENSG00000244306 0 genome.wustl.edu 37 14 19856162 19856162 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 19856162 19856162 G A SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.596 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 9 0 0.00 3 3 50.00 ENSG00000249898 0 genome.wustl.edu 37 8 6478732 6478733 + RNA INS - - T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 6478732 6478733 - T INS ENSG00000249898 ENST00000515608 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors CTD-2541M15.1 Clone_based_vega_gene ENSG00000249898 tier1 10 0 0.00 5 2 28.57 ENSG00000257931 0 genome.wustl.edu 37 14 19969313 19969313 + RNA SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 19969313 19969313 T A SNP ENSG00000257931 ENST00000547399 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 40 0 0.00 50 5 9.09 ENSG00000258377 0 genome.wustl.edu 37 14 50089335 50089336 + RNA DEL CA CA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 50089335 50089336 CA - DEL ENSG00000258377 ENST00000555043 human ensembl 74_37 -1 known rna NULL NULL 0.122:0.115 - - - no_errors RP11-649E7.5 Clone_based_vega_gene ENSG00000258377 tier1 44 0 0.00 52 29 35.80 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 tier1 23 0 0.00 38 4 9.52 EPHA10 0 genome.wustl.edu 37 1 38227500 38227500 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 38227500 38227500 G T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.427 p.R143S 0.947 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 tier1 - - 39 0 0.00 20 13 39.39 EPHB6 0 genome.wustl.edu 37 7 142561730 142561730 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 142561730 142561730 G A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.172 p.E58K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 40 0 0.00 69 10 12.66 EPX 0 genome.wustl.edu 37 17 56271184 56271186 + In_Frame_Del DEL CAA CAA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 56271184 56271186 CAA - DEL EPX ENST00000225371 human ensembl 74_37 +1 known in_frame_del c.456_458 p.N154in_frame_del 1.000:1.000:1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 43 0 0.00 34 24 41.38 ESPL1 0 genome.wustl.edu 37 12 53663026 53663027 + Frame_Shift_Del DEL TC TC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 53663026 53663027 TC - DEL ESPL1 ENST00000257934 human ensembl 74_37 +1 known frame_shift_del c.300_301 p.F102fs 0.999:1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 39 0 0.00 24 5 17.24 EVPL 0 genome.wustl.edu 37 17 74006238 74006238 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 74006238 74006238 G T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.3048 p.T1016 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 29 0 0.00 58 4 6.45 EXOSC8 0 genome.wustl.edu 37 13 37576435 37576437 + In_Frame_Del DEL AGG AGG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 13 37576435 37576437 AGG - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known in_frame_del c.43_45 p.R16in_frame_del 1.000:1.000:1.000 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 tier1 24 0 0.00 29 9 23.68 FAM105A 0 genome.wustl.edu 37 5 14610461 14610461 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 14610461 14610461 G A SNP FAM105A ENST00000506258 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors FAM105A HGNC ENSG00000145569 tier1 - - 24 0 0.00 24 19 43.18 FAM107A 0 genome.wustl.edu 37 3 58574945 58574945 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 58574945 58574945 G T SNP FAM107A ENST00000474531 human ensembl 74_37 -1 putative silent c.76 p.R26 0.006 NULL pfam_DUF1151 - no_errors FAM107A HGNC ENSG00000168309 tier1 - - 63 0 0.00 73 4 5.19 FAM114A2 0 genome.wustl.edu 37 5 153374608 153374609 + RNA DEL AC AC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 153374608 153374609 AC - DEL FAM114A2 ENST00000518946 human ensembl 74_37 -1 known rna NULL NULL 0.019:0.007 - - - no_errors FAM114A2 HGNC ENSG00000055147 tier1 34 0 0.00 21 3 12.50 FAM19A3 0 genome.wustl.edu 37 1 113264887 113264887 + Missense_Mutation SNP C C G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 113264887 113264887 C G SNP FAM19A3 ENST00000369630 human ensembl 74_37 +1 known missense c.32 p.T11R 0.030 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 25 0 0.00 35 2 5.41 FAM47C 0 genome.wustl.edu 37 X 37027774 37027774 + Frame_Shift_Del DEL C C - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 37027774 37027774 C - DEL FAM47C ENST00000358047 human ensembl 74_37 +1 known frame_shift_del c.1291 p.K432fs 0.435 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 116 0 0.00 39 80 67.23 FAM78A 0 genome.wustl.edu 37 9 134151290 134151290 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 134151290 134151290 C T SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known missense c.277 p.A93T 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 37 0 0.00 43 3 6.52 FAM83B 0 genome.wustl.edu 37 6 54791310 54791310 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 54791310 54791310 G A SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.586 p.G196S 0.956 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 60 0 0.00 38 14 26.92 FANCM 0 genome.wustl.edu 37 14 45623219 45623219 + Missense_Mutation SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 45623219 45623219 T C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.1147 p.Y383H 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 53 0 0.00 40 31 43.66 FAP 0 genome.wustl.edu 37 2 163074549 163074549 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 163074549 163074549 A G SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.709 p.S237P 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 31 0 0.00 36 31 46.27 FCHO2 0 genome.wustl.edu 37 5 72354318 72354320 + In_Frame_Del DEL TCT TCT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 72354318 72354320 TCT - DEL FCHO2 ENST00000341845 human ensembl 74_37 +1 known in_frame_del c.1312_1314 p.S441in_frame_del 0.930:0.927:0.004 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 122 0 0.00 124 63 33.69 FCRL3 0 genome.wustl.edu 37 1 157648846 157648846 + RNA SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 157648846 157648846 A G SNP FCRL3 ENST00000468507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 13 0 0.00 12 6 33.33 FEM1B 0 genome.wustl.edu 37 15 68582270 68582270 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 68582270 68582270 C T SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.574 p.H192Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 tier1 - - 21 0 0.00 21 7 25.00 FEZ1 0 genome.wustl.edu 37 11 125315975 125315975 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 125315975 125315975 G A SNP FEZ1 ENST00000526507 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FEZ1 HGNC ENSG00000149557 tier1 - - 29 0 0.00 34 4 10.53 FLVCR1 0 genome.wustl.edu 37 1 213037120 213037120 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 213037120 213037120 G T SNP FLVCR1 ENST00000366971 human ensembl 74_37 +1 known missense c.792 p.Q264H 0.362 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR1 HGNC ENSG00000162769 tier1 - - 58 0 0.00 76 4 5.00 FOXC1 0 genome.wustl.edu 37 6 1610969 1610971 + In_Frame_Del DEL AAG AAG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 1610969 1610971 AAG - DEL FOXC1 ENST00000380874 human ensembl 74_37 +1 known in_frame_del c.289_291 p.K98in_frame_del 1.000:1.000:1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 tier1 131 0 0.00 37 41 52.56 FOXP2 0 genome.wustl.edu 37 7 114329835 114329835 + Splice_Site SNP A A T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 114329835 114329835 A T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known splice_site c.2079-2 e17-2 1.000 - - - no_errors FOXP2 HGNC ENSG00000128573 tier1 - - 41 0 0.00 39 16 29.09 G3BP1 0 genome.wustl.edu 37 5 151183521 151183521 + Nonsense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 151183521 151183521 C T SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known nonsense c.1270 p.R424* 0.881 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 tier1 - - 41 0 0.00 29 16 35.56 GALNT18 0 genome.wustl.edu 37 11 11348709 11348709 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 11348709 11348709 G T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1436 p.T479N 0.941 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 69 0 0.00 61 4 6.15 GAS6 0 genome.wustl.edu 37 13 114535732 114535732 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 13 114535732 114535732 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.957 p.P319 0.015 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 tier1 - - 53 0 0.00 64 4 5.88 GATA1 0 genome.wustl.edu 37 X 48652620 48652620 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 48652620 48652620 G T SNP GATA1 ENST00000376665 human ensembl 74_37 +1 novel missense c.950 p.C317F 0.006 NULL pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 tier1 - - 42 0 0.00 55 4 6.78 GGCX 0 genome.wustl.edu 37 2 85785767 85785767 + Nonstop_Mutation SNP C C G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 85785767 85785767 C G SNP GGCX ENST00000428479 human ensembl 74_37 -1 known nonstop c.221 p.*74S 0.985 NULL pfam_VKG_COase - no_errors GGCX HGNC ENSG00000115486 tier1 - - 61 0 0.00 77 16 17.20 GGT2 0 genome.wustl.edu 37 22 21570257 21570257 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 21570257 21570257 G A SNP GGT2 ENST00000401924 human ensembl 74_37 -1 known silent c.690 p.N230 0.883 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT2 HGNC ENSG00000133475 tier1 rs200714390 - 24 0 0.00 30 7 18.92 GJA8 0 genome.wustl.edu 37 1 147381177 147381177 + Silent SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 147381177 147381177 C A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known silent c.1095 p.A365 0.000 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 36 0 0.00 42 3 6.67 GPBP1L1 0 genome.wustl.edu 37 1 46093254 46093256 + RNA DEL AAT AAT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 46093254 46093256 AAT - DEL GPBP1L1 ENST00000479235 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 133 0 0.00 123 43 25.90 GPX3 0 genome.wustl.edu 37 5 150400197 150400197 + RNA SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 150400197 150400197 A G SNP GPX3 ENST00000521722 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GPX3 HGNC ENSG00000211445 tier1 - - 39 0 0.00 28 14 33.33 GRM3 0 genome.wustl.edu 37 7 86415818 86415818 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 86415818 86415818 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 36 0 0.00 56 3 5.08 GRM7 0 genome.wustl.edu 37 3 6903375 6903375 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 6903375 6903375 G T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.300 p.T100 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 43 0 0.00 49 4 7.55 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 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 11 0 0.00 14 4 22.22 GTF3C2 0 genome.wustl.edu 37 2 27564940 27564940 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 27564940 27564940 G A SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.730 p.R244W 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 tier1 - - 92 0 0.00 81 27 24.77 HIST1H1E 0 genome.wustl.edu 37 6 26156678 26156680 + In_Frame_Del DEL GAA GAA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 26156678 26156680 GAA - DEL HIST1H1E ENST00000304218 human ensembl 74_37 +1 known in_frame_del c.60_62 p.K23in_frame_del 0.932:0.994:0.999 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 56 0 0.00 23 17 42.50 HOOK1 0 genome.wustl.edu 37 1 60336638 60336638 + RNA SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 60336638 60336638 A G SNP HOOK1 ENST00000491135 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 23 0 0.00 29 10 25.64 HRCT1 0 genome.wustl.edu 37 9 35906300 35906300 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 35906300 35906300 G A SNP HRCT1 ENST00000354323 human ensembl 74_37 +1 known missense c.16 p.G6R 0.998 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 - - 29 0 0.00 20 20 50.00 HSD17B10 0 genome.wustl.edu 37 X 53459303 53459303 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 53459303 53459303 G A SNP HSD17B10 ENST00000168216 human ensembl 74_37 -1 known silent c.249 p.G83 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH - no_errors HSD17B10 HGNC ENSG00000072506 39 0 0.00 57 3 5.00 HTRA3 0 genome.wustl.edu 37 4 8272043 8272043 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 8272043 8272043 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.348 p.T116 0.986 pfam_Kazal_dom,smart_Kazal_dom pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 tier1 - - 8 0 0.00 0 6 100.00 IGF1R 0 genome.wustl.edu 37 15 99434834 99434834 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 99434834 99434834 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.921 p.C307 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 55 0 0.00 76 4 5.00 IGF2-AS 0 genome.wustl.edu 37 11 2161780 2161780 + RNA SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 2161780 2161780 G T SNP IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.233 - - - no_errors IGF2-AS HGNC ENSG00000099869 tier1 - - 47 0 0.00 38 19 33.33 IMPA2 0 genome.wustl.edu 37 18 12012291 12012292 + Frame_Shift_Del DEL TG TG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 18 12012291 12012292 TG - DEL IMPA2 ENST00000590107 human ensembl 74_37 +1 known frame_shift_del c.458_459 p.C154fs 0.000:0.000 NULL pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 tier1 66 0 0.00 80 17 17.53 INPPL1 0 genome.wustl.edu 37 11 71948432 71948433 + Frame_Shift_Ins INS - - C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 71948432 71948433 - C INS INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_ins c.3144_3145 p.P1050fs 1.000:1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 87 0 0.00 49 32 39.51 INTS3 0 genome.wustl.edu 37 1 153745101 153745101 + Silent SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 153745101 153745101 T C SNP INTS3 ENST00000456435 human ensembl 74_37 +1 known silent c.2388 p.P796 0.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 66 0 0.00 62 4 6.06 ISX 0 genome.wustl.edu 37 22 35480444 35480444 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 35480444 35480444 G A SNP ISX ENST00000308700 human ensembl 74_37 +1 known silent c.450 p.Q150 0.019 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 59 0 0.00 56 4 6.67 ITGA2 0 genome.wustl.edu 37 5 52358761 52358762 + Splice_Site INS - - A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 52358761 52358762 - A INS ITGA2 ENST00000296585 human ensembl 74_37 +1 known splice_site_ins c.1602+2_1602+1 e13+2 1.000:1.000 - - - no_errors ITGA2 HGNC ENSG00000164171 tier1 46 0 0.00 47 6 11.32 JAK2 0 genome.wustl.edu 37 9 5126757 5126757 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 5126757 5126757 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.3365 p.R1122Q 1.000 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 tier1 - - 52 0 0.00 41 21 33.87 KANSL1 0 genome.wustl.edu 37 17 44248371 44248371 + Nonsense_Mutation SNP A A T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 44248371 44248371 A T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.1139 p.L380* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 64 0 0.00 29 48 62.34 KCND2 0 genome.wustl.edu 37 7 120387853 120387853 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 120387853 120387853 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1834 p.D612N 0.995 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 rs151258092 - 44 0 0.00 49 11 18.33 KCNK5 0 genome.wustl.edu 37 6 39163742 39163742 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 39163742 39163742 G T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.208 p.Q70K 0.999 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 71 0 0.00 68 4 5.56 KCTD14 0 genome.wustl.edu 37 11 77727684 77727684 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 77727684 77727684 G A SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known silent c.723 p.N241 0.001 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 tier1 - - 48 0 0.00 27 21 43.75 KIAA1191 0 genome.wustl.edu 37 5 175775006 175775006 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 175775006 175775006 G T SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known missense c.627 p.D209E 0.990 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 28 0 0.00 44 3 6.38 KIAA1239 0 genome.wustl.edu 37 4 37448106 37448106 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 37448106 37448106 C T SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known missense c.4496 p.S1499L 0.998 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 35 0 0.00 35 20 36.36 KIAA1429 0 genome.wustl.edu 37 8 95538542 95538543 + Frame_Shift_Ins INS - - A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 95538542 95538543 - A INS KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_ins c.1930_1929 p.T643fs 0.997:0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 74 0 0.00 99 30 23.26 KIF15 0 genome.wustl.edu 37 3 44879865 44879865 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 44879865 44879865 G T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.3270 p.Q1090H 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 tier1 - - 21 0 0.00 29 13 30.95 KIF7 0 genome.wustl.edu 37 15 90191892 90191892 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 90191892 90191892 G A SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.1037 p.A346V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 8 0 0.00 6 3 33.33 KLHL30 0 genome.wustl.edu 37 2 239049972 239049972 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 239049972 239049972 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.577 p.E193K 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 22 0 0.00 13 37 74.00 KMT2B 0 genome.wustl.edu 37 19 36214349 36214349 + Frame_Shift_Del DEL A A - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 36214349 36214349 A - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3003 p.Y1002fs 1.000 pirsf_MeTrfase_trithorax,pfam_Znf_CXXC,pfscan_Znf_CXXC pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 44 0 0.00 44 15 25.42 LGR6 0 genome.wustl.edu 37 1 202276457 202276457 + Splice_Site SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 202276457 202276457 G T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known splice_site c.1209-1 e14-1 1.000 - - - no_errors LGR6 HGNC ENSG00000133067 37 0 0.00 33 2 5.71 LINC00917 0 genome.wustl.edu 37 16 86371017 86371017 + RNA SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 16 86371017 86371017 C T SNP LINC00917 ENST00000304488 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LINC00917 HGNC ENSG00000168367 tier1 - - 43 0 0.00 42 61 59.22 LMNB1 0 genome.wustl.edu 37 5 126113552 126113554 + In_Frame_Del DEL CTC CTC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 126113552 126113554 CTC - DEL LMNB1 ENST00000261366 human ensembl 74_37 +1 known in_frame_del c.352_354 p.L119in_frame_del 0.995:0.892:0.758 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 tier1 25 0 0.00 10 10 50.00 LOC100996415 0 genome.wustl.edu 37 22 20342426 20342426 + RNA SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 20342426 20342426 C T SNP LOC100996415 ENST00000454636 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 tier1 - - 56 0 0.00 68 7 9.33 LPPR1 0 genome.wustl.edu 37 9 104032144 104032144 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 104032144 104032144 G A SNP LPPR1 ENST00000463206 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LPPR1 Uniprot_gn ENSG00000148123 tier1 - - 32 0 0.00 47 4 7.84 LRRC16B 0 genome.wustl.edu 37 14 24530854 24530854 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 24530854 24530854 C A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2453 p.A818E 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 20 0 0.00 33 11 25.00 MAGEC3 0 genome.wustl.edu 37 X 140984538 140984538 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 140984538 140984538 G A SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.100 p.E34K 0.165 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 16 0 0.00 2 19 90.48 MAML2 0 genome.wustl.edu 37 11 95825386 95825386 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 95825386 95825386 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1809 p.Q603 0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 69 0 0.00 59 6 9.23 MANEA 0 genome.wustl.edu 37 6 96044631 96044631 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 96044631 96044631 G T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.563 p.W188L 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 24 0 0.00 34 4 10.53 MAP3K9 0 genome.wustl.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 71275774 71275776 CCT - DEL MAP3K9 ENST00000555993 human ensembl 74_37 -1 known in_frame_del c.115_113 p.E38in_frame_del 1.000:1.000:0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 17 0 0.00 22 4 15.38 MAST4 0 genome.wustl.edu 37 5 66462641 66462641 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 66462641 66462641 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.7643 p.S2548N 0.469 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 75 0 0.00 56 4 6.56 MDFI 0 genome.wustl.edu 37 6 41621140 41621140 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 41621140 41621140 G T SNP MDFI ENST00000230321 human ensembl 74_37 +1 known missense c.568 p.G190C 1.000 NULL NULL - no_errors MDFI HGNC ENSG00000112559 37 0 0.00 33 2 5.71 MEX3A 0 genome.wustl.edu 37 1 156047372 156047372 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 156047372 156047372 C T SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.556 p.V186M 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 tier1 - - 47 0 0.00 17 13 41.94 MFSD8 0 genome.wustl.edu 37 4 128841926 128841926 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 128841926 128841926 G T SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known silent c.1416 p.I472 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 65 0 0.00 67 4 5.63 MIR3199-2 0 genome.wustl.edu 37 22 28316591 28316591 + RNA SNP T T G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 28316591 28316591 T G SNP MIR3199-2 ENST00000582434 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR3199-2 HGNC ENSG00000264073 30 0 0.00 43 5 10.42 MIR585 0 genome.wustl.edu 37 5 168690685 168690685 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 168690685 168690685 G A SNP MIR585 ENST00000384887 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR585 HGNC ENSG00000207619 tier1 - - 71 0 0.00 32 18 36.00 MLPH 0 genome.wustl.edu 37 2 238419374 238419374 + Frame_Shift_Del DEL A A - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 238419374 238419374 A - DEL MLPH ENST00000264605 human ensembl 74_37 +1 known frame_shift_del c.268 p.S91fs 0.940 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MLPH HGNC ENSG00000115648 tier1 40 0 0.00 33 2 5.71 MPC1 0 genome.wustl.edu 37 6 166779523 166779523 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 166779523 166779523 C T SNP MPC1 ENST00000341756 human ensembl 74_37 -1 known missense c.244 p.A82T 0.976 pfam_MPC pfam_MPC - no_errors MPC1 HGNC ENSG00000060762 tier1 - - 57 0 0.00 65 4 5.80 MSN 0 genome.wustl.edu 37 X 64956728 64956730 + In_Frame_Del DEL AGG AGG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 64956728 64956730 AGG 0 DEL MSN ENST00000360270 human ensembl 74_37 +1 known in_frame_del c.1031_1033 p.E346in_frame_del 1.000:0.998:1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 27 0 0.00 28 8 22.22 MSN 0 genome.wustl.edu 37 X 64956743 64956743 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 64956743 64956743 A G SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1046 p.E349G 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 24 0 0.00 28 8 22.22 MT-CO1 0 genome.wustl.edu 37 MT 5997 5997 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 MT 5997 5997 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.94 p.A32T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 39 0 0.00 5 37 88.10 MTR 0 genome.wustl.edu 37 1 236959022 236959022 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 236959022 236959022 G T SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.19 p.D7Y 0.001 NULL pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 96 0 0.00 51 34 40.00 MTRF1L 0 genome.wustl.edu 37 6 153310937 153310937 + RNA DEL A A - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 153310937 153310937 A - DEL MTRF1L ENST00000461949 human ensembl 74_37 -1 known rna NULL NULL 0.168 - - - no_errors MTRF1L HGNC ENSG00000112031 tier1 18 0 0.00 24 4 14.29 MUC16 0 genome.wustl.edu 37 19 9084082 9084082 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 9084082 9084082 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7733 p.P2578Q 0.220 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 101 0 0.00 109 49 31.01 MYH11 0 genome.wustl.edu 37 16 15818261 15818261 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 16 15818261 15818261 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.4143 p.S1381 0.654 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 19 0 0.00 32 3 8.57 MYO18B 0 genome.wustl.edu 37 22 26423370 26423370 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 26423370 26423370 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7430 p.T2477M 0.006 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 41 0 0.00 36 3 7.69 MYOF 0 genome.wustl.edu 37 10 95070368 95070368 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 10 95070368 95070368 G T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.5922 p.N1974K 0.993 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 98 0 0.00 69 56 44.80 NAMPT 0 genome.wustl.edu 37 7 105910715 105910715 + RNA SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 105910715 105910715 T C SNP NAMPT ENST00000393618 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NAMPT HGNC ENSG00000105835 tier1 - - 68 0 0.00 71 36 33.64 NAPSA 0 genome.wustl.edu 37 19 50865438 50865438 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 50865438 50865438 G T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.216 p.N72K 0.930 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 48 0 0.00 75 4 5.06 NBEAL2 0 genome.wustl.edu 37 3 47045639 47045639 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 47045639 47045639 G T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5954 p.R1985L 0.999 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 54 0 0.00 41 3 6.82 NFASC 0 genome.wustl.edu 37 1 204945917 204945917 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 204945917 204945917 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1825 p.V609M 0.991 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,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 NFASC HGNC ENSG00000163531 tier1 rs113197466 - 26 0 0.00 25 16 39.02 NLGN1 0 genome.wustl.edu 37 3 173525608 173525608 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 173525608 173525608 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.752 p.R251Q 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 41 0 0.00 37 2 5.13 NOTCH1 0 genome.wustl.edu 37 9 139417576 139417577 + Frame_Shift_Ins INS - - A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 139417576 139417577 - A INS NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_ins c.468_467 p.P157fs 1.000:1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 69 0 0.00 31 46 59.74 NR0B1 0 genome.wustl.edu 37 X 30326923 30326923 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 30326923 30326923 C T SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known silent c.558 p.A186 0.034 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 12 0 0.00 2 8 80.00 NSD1 0 genome.wustl.edu 37 5 176696681 176696681 + Frame_Shift_Del DEL C C - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 176696681 176696681 C - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.5382 p.P1795fs 0.999 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 80 0 0.00 20 29 59.18 NTM 0 genome.wustl.edu 37 11 132016295 132016295 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 132016295 132016295 C T SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.287 p.T96M 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 tier1 - - 65 0 0.00 30 12 28.57 NUP210L 0 genome.wustl.edu 37 1 154031052 154031052 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 154031052 154031052 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2968 p.L990M 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 38 0 0.00 49 3 5.77 OBSL1 0 genome.wustl.edu 37 2 220432086 220432087 + Frame_Shift_Del DEL CA CA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 220432086 220432087 CA - DEL OBSL1 ENST00000404537 human ensembl 74_37 -1 known frame_shift_del c.1746_1745 p.V582fs 0.998:1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 31 0 0.00 33 9 21.43 OR2M4 0 genome.wustl.edu 37 1 248402987 248402987 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 248402987 248402987 G T SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.757 p.G253C 0.373 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 43 0 0.00 56 3 5.08 OR2T10 0 genome.wustl.edu 37 1 248756465 248756465 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 248756465 248756465 C A SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known missense c.605 p.C202F 0.005 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 OR2T10 HGNC ENSG00000184022 35 0 0.00 35 2 5.41 OR51G2 0 genome.wustl.edu 37 11 4936308 4936308 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 4936308 4936308 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.586 p.D196N 0.966 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 OR51G2 HGNC ENSG00000176893 tier1 - - 16 0 0.00 21 11 34.38 OR5A2 0 genome.wustl.edu 37 11 59189983 59189983 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 59189983 59189983 G T SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known silent c.444 p.G148 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 47 0 0.00 38 3 7.32 OTOP1 0 genome.wustl.edu 37 4 4199591 4199591 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 4199591 4199591 C T SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.970 p.A324T 0.526 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 tier1 rs200213513 - 30 0 0.00 32 23 41.82 PAN3 0 genome.wustl.edu 37 13 28830500 28830502 + In_Frame_Del DEL AGA AGA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 13 28830500 28830502 AGA - DEL PAN3 ENST00000380958 human ensembl 74_37 +1 known in_frame_del c.1072_1074 p.R360in_frame_del 1.000:1.000:1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 108 0 0.00 67 22 24.72 PAPD4 0 genome.wustl.edu 37 5 78981027 78981027 + Nonsense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 78981027 78981027 G A SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known nonsense c.1386 p.W462* 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 54 0 0.00 50 3 5.66 PAQR8 0 genome.wustl.edu 37 6 52268714 52268714 + Missense_Mutation SNP T T G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 52268714 52268714 T G SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.703 p.C235G 1.000 pfam_HlyIII-related pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 tier1 - - 22 0 0.00 18 17 48.57 PARD3 0 genome.wustl.edu 37 10 34805981 34805981 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 10 34805981 34805981 G T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.329 p.T110N 0.991 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 78 0 0.00 75 4 5.06 PARP10 0 genome.wustl.edu 37 8 145059488 145059488 + Nonsense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 145059488 145059488 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known nonsense c.682 p.R228* 0.977 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 66 0 0.00 37 21 36.21 PATL1 0 genome.wustl.edu 37 11 59423080 59423080 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 59423080 59423080 C T SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.947 p.R316H 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 93 0 0.00 53 37 41.11 PAXIP1 0 genome.wustl.edu 37 7 154774989 154774989 + Silent SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 154774989 154774989 T A SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known silent c.378 p.G126 0.033 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 97 0 0.00 84 22 20.75 PCDH12 0 genome.wustl.edu 37 5 141324997 141324997 + Silent SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 141324997 141324997 C A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.3504 p.T1168 0.014 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 33 0 0.00 23 4 14.81 PCDHB18 0 genome.wustl.edu 37 5 140616411 140616411 + RNA SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 140616411 140616411 A G SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PCDHB18 HGNC ENSG00000146001 tier1 - - 98 0 0.00 76 44 36.67 PCLO 0 genome.wustl.edu 37 7 82584500 82584500 + Silent SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 82584500 82584500 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5769 p.H1923 0.339 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 42 0 0.00 72 25 25.77 PDCD11 0 genome.wustl.edu 37 10 105179338 105179338 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 10 105179338 105179338 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.2150 p.G717D 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 56 0 0.00 52 4 7.14 PDIA3 0 genome.wustl.edu 37 15 44038854 44038854 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 44038854 44038854 C T SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known silent c.117 p.I39 0.998 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 tier1 - - 61 0 0.00 53 19 26.39 PEX16 0 genome.wustl.edu 37 11 45935479 45935479 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 45935479 45935479 G A SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known silent c.778 p.L260 1.000 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 tier1 - - 81 0 0.00 60 31 34.07 PFKFB4 0 genome.wustl.edu 37 3 48561150 48561150 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 48561150 48561150 G T SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.1206 p.F402L 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 tier1 - - 42 0 0.00 29 16 35.56 PIFO 0 genome.wustl.edu 37 1 111892705 111892705 + RNA SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 111892705 111892705 G T SNP PIFO ENST00000484512 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PIFO HGNC ENSG00000173947 tier1 - - 64 0 0.00 56 8 12.50 PIK3C2B 0 genome.wustl.edu 37 1 204438822 204438822 + Missense_Mutation SNP G G C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 204438822 204438822 G C SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.109 p.L37V 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 77 0 0.00 37 27 42.19 PIK3C3 0 genome.wustl.edu 37 18 39550410 39550410 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 18 39550410 39550410 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.521 p.R174H 1.000 pfam_PI3K_C2_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 tier1 - - 39 0 0.00 26 13 33.33 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 63 0 0.00 61 27 30.68 PIP 0 genome.wustl.edu 37 7 142832382 142832382 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 142832382 142832382 A G SNP PIP ENST00000291009 human ensembl 74_37 +1 known missense c.191 p.E64G 0.965 pfam_SV_autoAg,pirsf_SV_autoAg pfam_SV_autoAg,pirsf_SV_autoAg - no_errors PIP HGNC ENSG00000159763 tier1 - - 53 0 0.00 41 40 49.38 PLTP 0 genome.wustl.edu 37 20 44528111 44528111 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 44528111 44528111 G A SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.1409 p.T470M 0.721 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 tier1 - - 48 0 0.00 41 4 8.89 PLVAP 0 genome.wustl.edu 37 19 17476376 17476376 + Nonsense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 17476376 17476376 C A SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known nonsense c.898 p.E300* 0.978 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 tier1 - - 37 0 0.00 40 16 28.57 PLXDC1 0 genome.wustl.edu 37 17 37288020 37288020 + RNA SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 37288020 37288020 G T SNP PLXDC1 ENST00000493200 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 73 0 0.00 34 52 60.47 PNLDC1 0 genome.wustl.edu 37 6 160225082 160225082 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 160225082 160225082 G T SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known missense c.301 p.V101F 0.998 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 tier1 - - 63 0 0.00 61 4 6.15 POLR1C 0 genome.wustl.edu 37 6 43487822 43487825 + Frame_Shift_Del DEL AGAT AGAT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 43487822 43487825 AGAT - DEL POLR1C ENST00000372389 human ensembl 74_37 +1 known frame_shift_del c.401_404 p.D136fs 1.000:0.999:1.000:1.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 tier1 62 0 0.00 49 18 26.87 POU4F1 0 genome.wustl.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG TGG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 13 79176484 79176486 TGG - DEL POU4F1 ENST00000377208 human ensembl 74_37 -1 known in_frame_del c.326_324 p.H108in_frame_del 1.000:1.000:1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 tier1 9 0 0.00 4 2 33.33 POU4F2 0 genome.wustl.edu 37 4 147560493 147560493 + Silent SNP A A C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 147560493 147560493 A C SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.201 p.G67 0.938 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 32 0 0.00 41 5 10.87 PPP1R9A 0 genome.wustl.edu 37 7 94855331 94855331 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 94855331 94855331 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1949 p.S650I 0.801 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 40 0 0.00 70 4 5.41 PRB3 0 genome.wustl.edu 37 12 11420862 11420862 + Silent SNP T T G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 11420862 11420862 T G SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known silent c.321 p.G107 0.001 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 50 0 0.00 46 4 8.00 PRDM8 0 genome.wustl.edu 37 4 81122551 81122551 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 81122551 81122551 C T SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.327 p.N109 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 - - 44 0 0.00 29 29 50.00 PRDM9 0 genome.wustl.edu 37 5 23526880 23526880 + Silent SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 23526880 23526880 T C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.1683 p.F561 0.629 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 114 0 0.00 64 34 34.34 PRKDC 0 genome.wustl.edu 37 8 48841652 48841653 + Frame_Shift_Del DEL CT CT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 48841652 48841653 CT - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.2139_2138 p.E713fs 1.000:1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 107 0 0.00 150 34 18.48 PSMA3 0 genome.wustl.edu 37 14 58724482 58724482 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 14 58724482 58724482 C T SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known missense c.248 p.A83V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 tier1 - - 55 0 0.00 69 4 5.48 PTK2B 0 genome.wustl.edu 37 8 27277410 27277412 + Splice_Site DEL AGG AGG - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 27277410 27277412 AGG - DEL PTK2B ENST00000346049 human ensembl 74_37 +1 known splice_site_del c.205-2_205-1 e2-1 0.992:1.000:1.000 - - - no_errors PTK2B HGNC ENSG00000120899 tier1 33 0 0.00 39 9 18.75 PTPRG 0 genome.wustl.edu 37 3 62229529 62229529 + Silent SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 62229529 62229529 T C SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known silent c.2424 p.P808 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 89 0 0.00 61 39 39.00 PTPRO 0 genome.wustl.edu 37 12 15734642 15734642 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 15734642 15734642 G T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known silent c.3162 p.T1054 0.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 35 0 0.00 52 3 5.45 PTPRS 0 genome.wustl.edu 37 19 5212059 5212059 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 5212059 5212059 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4975 p.A1659T 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 45 0 0.00 61 4 6.15 RAB11A 0 genome.wustl.edu 37 15 66180064 66180064 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 66180064 66180064 G A SNP RAB11A ENST00000435304 human ensembl 74_37 +1 known missense c.442 p.A148T 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11A HGNC ENSG00000103769 37 0 0.00 41 4 8.89 RAMP1 0 genome.wustl.edu 37 2 238785925 238785925 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 238785925 238785925 G A SNP RAMP1 ENST00000254661 human ensembl 74_37 +1 known missense c.112 p.E38K 0.048 pfam_RAMP pfam_RAMP - no_errors RAMP1 HGNC ENSG00000132329 tier1 - - 52 0 0.00 32 40 55.56 RARS 0 genome.wustl.edu 37 5 167933162 167933162 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 167933162 167933162 G T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1194 p.E398D 1.000 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 75 0 0.00 71 4 5.33 REXO1 0 genome.wustl.edu 37 19 1828269 1828269 + Silent SNP A A C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 1828269 1828269 A C SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.519 p.P173 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 39 0 0.00 19 26 54.17 RGAG4 0 genome.wustl.edu 37 X 71350845 71350845 + Frame_Shift_Del DEL G G - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 71350845 71350845 G - DEL RGAG4 ENST00000479991 human ensembl 74_37 -1 known frame_shift_del c.546 p.G184fs 0.307 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 tier1 35 0 0.00 37 2 5.13 RGS19 0 genome.wustl.edu 37 20 62705859 62705859 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 62705859 62705859 C T SNP RGS19 ENST00000332298 human ensembl 74_37 -1 known missense c.188 p.R63Q 0.479 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS19 HGNC ENSG00000171700 tier1 - - 35 0 0.00 25 15 36.59 ROR1 0 genome.wustl.edu 37 1 64643832 64643832 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 64643832 64643832 A G SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.2108 p.E703G 1.000 pirsf_Tyr_kinase_rcpt_ROR,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_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 tier1 - - 27 0 0.00 16 6 27.27 SCRT1 0 genome.wustl.edu 37 8 145559791 145559791 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 145559791 145559791 G A SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.41 p.A14V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 tier1 - - 111 0 0.00 71 19 20.88 SDCBP 0 genome.wustl.edu 37 8 59484765 59484765 + Silent SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 59484765 59484765 T C SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known silent c.132 p.N44 0.962 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 tier1 - - 60 0 0.00 86 36 29.51 SEPT4 0 genome.wustl.edu 37 17 56603935 56603938 + RNA DEL ACAC ACAC - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 56603935 56603938 ACAC - DEL SEPT4 ENST00000580740 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors SEPT4 HGNC ENSG00000108387 tier1 9 0 0.00 17 2 10.53 SETD2 0 genome.wustl.edu 37 3 47165518 47165519 + Frame_Shift_Del DEL GA GA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 47165518 47165519 GA - DEL SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_del c.608_607 p.S203fs 0.025:0.018 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 65 0 0.00 58 18 23.68 SETDB1 0 genome.wustl.edu 37 1 150923484 150923484 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 150923484 150923484 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.2131 p.R711C 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 55 0 0.00 55 4 6.78 SETDB1 0 genome.wustl.edu 37 1 150936765 150936765 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 150936765 150936765 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.3801 p.Y1267 0.464 smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 97 0 0.00 69 36 34.29 SETMAR 0 genome.wustl.edu 37 3 4357930 4357930 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 4357930 4357930 G T SNP SETMAR ENST00000358065 human ensembl 74_37 +1 known missense c.1055 p.R352L 0.853 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 tier1 - - 21 0 0.00 19 4 17.39 SH2D4A 0 genome.wustl.edu 37 8 19250858 19250860 + In_Frame_Del DEL CTT CTT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 19250858 19250860 CTT - DEL SH2D4A ENST00000265807 human ensembl 74_37 +1 known in_frame_del c.1078_1080 p.L362in_frame_del 0.962:0.910:0.510 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 tier1 68 0 0.00 62 30 32.61 SIM1 0 genome.wustl.edu 37 6 100838305 100838305 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 100838305 100838305 G T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.2233 p.L745M 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 89 0 0.00 69 34 33.01 SLC39A11 0 genome.wustl.edu 37 17 70643714 70643714 + RNA SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 70643714 70643714 G A SNP SLC39A11 ENST00000579988 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC39A11 HGNC ENSG00000133195 tier1 - - 58 0 0.00 72 27 27.27 SLC4A9 0 genome.wustl.edu 37 5 139745542 139745545 + Frame_Shift_Del DEL CTTA CTTA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 CTTA CTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 139745542 139745545 CTTA - DEL SLC4A9 ENST00000230993 human ensembl 74_37 +1 known frame_shift_del c.1906_1909 p.T637fs 1.000:1.000:0.995:1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk 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 46 0 0.00 37 6 13.95 SLU7 0 genome.wustl.edu 37 5 159840617 159840617 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 159840617 159840617 C T SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known missense c.416 p.R139Q 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 tier1 - - 40 0 0.00 34 23 40.35 SMARCA4 0 genome.wustl.edu 37 19 11123693 11123693 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 11123693 11123693 G T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2343 p.M781I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 44 0 0.00 43 13 23.21 SMARCA5 0 genome.wustl.edu 37 4 144449849 144449849 + Missense_Mutation SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 4 144449849 144449849 T A SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.1071 p.D357E 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 tier1 - - 91 0 0.00 19 59 75.64 SNX5 0 genome.wustl.edu 37 20 17928184 17928184 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 17928184 17928184 G T SNP SNX5 ENST00000377759 human ensembl 74_37 -1 known missense c.1024 p.H342N 1.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC ENSG00000089006 78 0 0.00 72 4 5.26 SOX6 0 genome.wustl.edu 37 11 16077436 16077436 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 16077436 16077436 G T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known silent c.1113 p.A371 0.987 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 tier1 - - 84 0 0.00 68 4 5.48 SOX9 0 genome.wustl.edu 37 17 70117939 70117939 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 70117939 70117939 G A SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known missense c.407 p.S136N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 tier1 - - 81 0 0.00 51 64 55.65 SSH3 0 genome.wustl.edu 37 11 67075317 67075317 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 67075317 67075317 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known silent c.792 p.G264 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 61 0 0.00 47 17 26.56 ST6GAL2 0 genome.wustl.edu 37 2 107449090 107449090 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 107449090 107449090 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1074 p.D358E 0.999 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 78 0 0.00 58 66 53.23 ST8SIA4 0 genome.wustl.edu 37 5 100192077 100192077 + Missense_Mutation SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 100192077 100192077 T A SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.527 p.E176V 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 - - 42 0 0.00 22 12 35.29 STAG3 0 genome.wustl.edu 37 7 99795228 99795228 + RNA SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 99795228 99795228 G T SNP STAG3 ENST00000440830 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3 HGNC ENSG00000066923 tier1 rs2405730 - 39 0 0.00 69 6 8.00 SULT1A1 0 genome.wustl.edu 37 16 28617217 28617217 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 16 28617217 28617217 C T SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known silent c.813 p.A271 0.992 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 tier1 rs202065838 - 56 0 0.00 60 20 25.00 SYCE3 0 genome.wustl.edu 37 22 50989685 50989685 + Missense_Mutation SNP G G C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 50989685 50989685 G C SNP SYCE3 ENST00000402753 human ensembl 74_37 -1 putative missense c.256 p.Q86E 0.966 NULL NULL - no_errors SYCE3 HGNC ENSG00000217442 tier1 - - 35 0 0.00 40 19 32.20 TARM1 0 genome.wustl.edu 37 19 54584606 54584606 + Missense_Mutation SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 54584606 54584606 T C SNP TARM1 ENST00000432826 human ensembl 74_37 -1 known missense c.4 p.I2V 0.098 NULL smart_Ig_sub - no_errors TARM1 HGNC ENSG00000248385 74 0 0.00 71 4 5.33 TAS2R50 0 genome.wustl.edu 37 12 11138968 11138968 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 11138968 11138968 C T SNP TAS2R50 ENST00000506868 human ensembl 74_37 -1 known silent c.492 p.G164 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 tier1 - - 43 0 0.00 72 4 5.26 TBL1XR1 0 genome.wustl.edu 37 3 176755901 176755901 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 176755901 176755901 G T SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known missense c.1107 p.D369E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 tier1 - - 51 0 0.00 53 19 26.39 TCHH 0 genome.wustl.edu 37 1 152085342 152085342 + Missense_Mutation SNP T T G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 152085342 152085342 T G SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.351 p.E117D 0.985 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 67 0 0.00 39 16 29.09 TCHHL1 0 genome.wustl.edu 37 1 152058560 152058560 + Missense_Mutation SNP T T C TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 152058560 152058560 T C SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1598 p.E533G 0.006 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 28 0 0.00 51 4 7.27 TENM2 0 genome.wustl.edu 37 5 167420177 167420177 + Silent SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 167420177 167420177 G T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1176 p.A392 0.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 65 0 0.00 57 3 5.00 TESC 0 genome.wustl.edu 37 12 117484586 117484586 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 117484586 117484586 C T SNP TESC ENST00000392545 human ensembl 74_37 -1 known missense c.566 p.R189Q 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TESC HGNC ENSG00000088992 tier1 - - 63 0 0.00 34 16 32.00 TEX11 0 genome.wustl.edu 37 X 69898668 69898668 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 X 69898668 69898668 C T SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known missense c.1273 p.A425T 0.080 pfam_Meiosis_specific_SPO22,smart_TPR_repeat pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 92 0 0.00 38 79 67.52 TFAP2B 0 genome.wustl.edu 37 6 50791203 50791203 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 6 50791203 50791203 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.192 p.P64 0.935 NULL pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 48 0 0.00 32 19 37.25 TFIP11 0 genome.wustl.edu 37 22 26888021 26888021 + Nonsense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 22 26888021 26888021 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known nonsense c.2472 p.W824* 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 31 0 0.00 42 4 8.70 TIAM1 0 genome.wustl.edu 37 21 32502599 32502599 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 21 32502599 32502599 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3977 p.W1326L 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 37 0 0.00 23 10 30.30 TIMELESS 0 genome.wustl.edu 37 12 56817430 56817430 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 12 56817430 56817430 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2028 p.E676 0.994 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 23 0 0.00 22 4 15.38 TLN1 0 genome.wustl.edu 37 9 35700018 35700018 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 9 35700018 35700018 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6721 p.R2241W 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 55 0 0.00 23 11 32.35 TMEM176B 0 genome.wustl.edu 37 7 150490688 150490688 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 150490688 150490688 C A SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known missense c.316 p.V106L 0.708 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 tier1 - - 27 0 0.00 26 18 40.91 TNR 0 genome.wustl.edu 37 1 175365941 175365941 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 175365941 175365941 C A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.979 p.A327S 1.000 superfamily_Fibronectin_type3,smart_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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 34 0 0.00 20 12 37.50 TPK1 0 genome.wustl.edu 37 7 144288333 144288333 + RNA SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 144288333 144288333 C A SNP TPK1 ENST00000548831 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TPK1 HGNC ENSG00000196511 tier1 - - 10 0 0.00 1 5 83.33 TRIL 0 genome.wustl.edu 37 7 28997167 28997167 + RNA SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 28997167 28997167 C T SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.684 - - - no_errors TRIL HGNC ENSG00000176734 tier1 - - 92 0 0.00 72 60 44.78 TSPY26P 0 genome.wustl.edu 37 20 30777004 30777004 + RNA SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 30777004 30777004 C A SNP TSPY26P ENST00000565928 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors TSPY26P HGNC ENSG00000235217 tier1 - - 37 0 0.00 17 13 43.33 TTN 0 genome.wustl.edu 37 2 179592555 179592555 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 179592555 179592555 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16018 p.Q5340K 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 - - 51 0 0.00 90 5 5.26 UBTF 0 genome.wustl.edu 37 17 42286868 42286868 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 17 42286868 42286868 C T SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.1757 p.G586E 1.000 superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 53 0 0.00 73 4 5.19 UGT1A5 0 genome.wustl.edu 37 2 234622316 234622316 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 234622316 234622316 G T SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known missense c.679 p.V227F 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 tier1 rs200994534 - 145 0 0.00 85 103 54.79 UGT3A2 0 genome.wustl.edu 37 5 36066849 36066851 + In_Frame_Del DEL GGA GGA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 36066849 36066851 GGA - DEL UGT3A2 ENST00000282507 human ensembl 74_37 -1 known in_frame_del c.43_41 p.L14in_frame_del 0.000:0.001:0.003 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 86 0 0.00 60 18 23.08 UGT3A2 0 genome.wustl.edu 37 5 36066855 36066855 + Frame_Shift_Del DEL G G - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 36066855 36066855 G - DEL UGT3A2 ENST00000282507 human ensembl 74_37 -1 known frame_shift_del c.37 p.L13fs 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 86 0 0.00 59 18 23.38 UGT3A2 0 genome.wustl.edu 37 5 36066850 36066850 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 5 36066850 36066850 G A SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.42 p.L14 0.001 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 85 0 0.00 56 4 6.67 UHMK1 0 genome.wustl.edu 37 1 162470727 162470727 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 162470727 162470727 G T SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.586 p.G196W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 tier1 - - 68 0 0.00 60 4 6.25 UNC13C 0 genome.wustl.edu 37 15 54307297 54307297 + Nonsense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 15 54307297 54307297 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.2197 p.Q733* 0.769 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 15 0 0.00 16 10 38.46 UNC80 0 genome.wustl.edu 37 2 210805968 210805968 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 210805968 210805968 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.6472 p.D2158N 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 78 0 0.00 47 65 58.04 UNKL 0 genome.wustl.edu 37 16 1444165 1444165 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 16 1444165 1444165 G A SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.1465 p.R489C 0.733 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 98 0 0.00 62 75 54.74 USP13 0 genome.wustl.edu 37 3 179426666 179426666 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 3 179426666 179426666 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known silent c.726 p.N242 0.207 pfam_Znf_UBP,smart_Znf_UBP,pirsf_Ubiquitinyl_hydrolase,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 - - 70 0 0.00 54 4 6.90 VANGL2 0 genome.wustl.edu 37 1 160388867 160388867 + Missense_Mutation SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 1 160388867 160388867 C T SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.268 p.R90C 0.996 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 rs149889263 - 20 0 0.00 14 11 44.00 VPS37C 0 genome.wustl.edu 37 11 60899905 60899905 + Frame_Shift_Del DEL T T - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 60899905 60899905 T - DEL VPS37C ENST00000301765 human ensembl 74_37 -1 known frame_shift_del c.455 p.K152fs 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 tier1 40 0 0.00 38 2 5.00 VWCE 0 genome.wustl.edu 37 11 61044094 61044094 + Frame_Shift_Del DEL G G - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 11 61044094 61044094 G - DEL VWCE ENST00000335613 human ensembl 74_37 -1 known frame_shift_del c.1466 p.P489fs 0.008 smart_VWC_out,smart_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 tier1 126 0 0.00 84 33 28.21 ZC3H3 0 genome.wustl.edu 37 8 144620514 144620514 + Silent SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 8 144620514 144620514 A G SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.1023 p.S341 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 tier1 - - 51 0 0.00 80 31 27.93 ZFAND2B 0 genome.wustl.edu 37 2 220071745 220071745 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 2 220071745 220071745 G A SNP ZFAND2B ENST00000289528 human ensembl 74_37 +1 known silent c.36 p.E12 1.000 pfam_Znf_AN1,smart_Znf_AN1 pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1 - no_errors ZFAND2B HGNC ENSG00000158552 tier1 - - 116 0 0.00 73 55 42.97 ZNF12 0 genome.wustl.edu 37 7 6731402 6731404 + In_Frame_Del DEL AGA AGA - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 7 6731402 6731404 AGA - DEL ZNF12 ENST00000405858 human ensembl 74_37 -1 known in_frame_del c.1171_1169 p.F390in_frame_del 0.729:0.801:0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 tier1 49 0 0.00 69 13 15.85 ZNF493 0 genome.wustl.edu 37 19 21606101 21606101 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 21606101 21606101 G A SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.256 p.E86K 0.844 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 tier1 - - 54 0 0.00 64 26 28.89 ZNF521 0 genome.wustl.edu 37 18 22805487 22805487 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 18 22805487 22805487 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2395 p.Q799K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 41 0 0.00 41 5 10.87 ZNF562 0 genome.wustl.edu 37 19 9764000 9764000 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 9764000 9764000 G A SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.906 p.S302 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 tier1 - - 136 0 0.00 146 64 30.48 ZNF682 0 genome.wustl.edu 37 19 20117176 20117176 + Nonsense_Mutation SNP T T A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 20117176 20117176 T A SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known nonsense c.1135 p.K379* 0.060 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 tier1 - - 49 0 0.00 39 47 54.65 ZNF682 0 genome.wustl.edu 37 19 20117944 20117944 + Missense_Mutation SNP A A G TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 20117944 20117944 A G SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known missense c.367 p.C123R 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 ZNF682 HGNC ENSG00000197124 tier1 - - 15 0 0.00 11 11 50.00 ZNFX1 0 genome.wustl.edu 37 20 47865500 47865500 + Missense_Mutation SNP C C A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 20 47865500 47865500 C A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.4061 p.R1354L 0.001 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 68 0 0.00 59 4 6.35 ZSCAN18 0 genome.wustl.edu 37 19 58596563 58596563 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0afac72-fa23-47e8-a05d-db61735de14b 24963b8e-e095-4d3b-8c6c-bce94ccc8957 19 58596563 58596563 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.1190 p.A397V 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 tier1 - - 16 0 0.00 15 10 40.00