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 101928757 0 genome.wustl.edu 37 10 17875705 17875705 + Missense_Mutation SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 10 17875705 17875705 C A SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.669 p.D223E 0.983 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 75 0 0.00 42 37 46.84 ACAT2 0 genome.wustl.edu 37 6 160188041 160188041 + Nonsense_Mutation SNP T T A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 6 160188041 160188041 T A SNP ACAT2 ENST00000541436 human ensembl 74_37 +1 known nonsense c.282 p.C94* 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 tier1 - - 105 0 0.00 40 34 45.33 ACBD3 0 genome.wustl.edu 37 1 226352631 226352631 + Splice_Site SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 226352631 226352631 C T SNP ACBD3 ENST00000366812 human ensembl 74_37 -1 known splice_site c.429-1 e3-1 1.000 - - - no_errors ACBD3 HGNC ENSG00000182827 tier1 - - 75 0 0.00 42 20 32.26 ACSS3 0 genome.wustl.edu 37 12 81528749 81528749 + Missense_Mutation SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 12 81528749 81528749 C A SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.611 p.S204Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 67 0 0.00 58 19 24.68 ACSS3 0 genome.wustl.edu 37 12 81624875 81624875 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 12 81624875 81624875 G A SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known silent c.1554 p.K518 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 67 0 0.00 45 9 16.67 ADAMTS5 0 genome.wustl.edu 37 21 28338413 28338413 + Silent SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 21 28338413 28338413 A G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.298 p.L100 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 112 0 0.00 70 17 19.54 ANKRD20A11P 0 genome.wustl.edu 37 21 15282833 15282833 + RNA SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 21 15282833 15282833 A C SNP ANKRD20A11P ENST00000442192 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 70 0 0.00 63 15 19.23 ANKRD35 0 genome.wustl.edu 37 1 145558905 145558905 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 145558905 145558905 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.524 p.R175Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 116 0 0.00 106 12 10.17 ANKS4B 0 genome.wustl.edu 37 16 21261886 21261886 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 21261886 21261886 C T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.999 p.D333 0.962 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 tier1 - - 45 0 0.00 33 7 17.50 APOB 0 genome.wustl.edu 37 2 21229011 21229011 + Missense_Mutation SNP A A T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 21229011 21229011 A T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10729 p.F3577I 0.008 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 64 0 0.00 24 25 50.00 APOBR 0 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 12 0 0.00 6 4 40.00 ARHGAP29 0 genome.wustl.edu 37 1 94670638 94670638 + Missense_Mutation SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 94670638 94670638 C A SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.676 p.V226F 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 79 0 0.00 31 20 39.22 ARHGAP8 0 genome.wustl.edu 37 22 45258435 45258435 + Missense_Mutation SNP T T A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 22 45258435 45258435 T A SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known missense c.1892 p.L631Q 0.000 NULL pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 tier1 - - 66 0 0.00 23 14 37.84 ARID2 0 genome.wustl.edu 37 12 46254692 46254692 + Frame_Shift_Del DEL C C - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 12 46254692 46254692 C - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.4882 p.P1628fs 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 67 0 0.00 53 17 24.29 C1orf173 0 genome.wustl.edu 37 1 75038101 75038101 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 75038101 75038101 A C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3293 p.L1098R 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 123 0 0.00 90 33 26.83 CACNA2D1 0 genome.wustl.edu 37 7 81799900 81799900 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 81799900 81799900 A C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.320 p.V107G 0.998 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 170 0 0.00 117 42 26.25 CD1E 0 genome.wustl.edu 37 1 158325143 158325143 + Missense_Mutation SNP T T G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 158325143 158325143 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.409 p.F137V 0.399 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 140 0 0.00 115 59 33.91 CDC25C 0 genome.wustl.edu 37 5 137661570 137661570 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 5 137661570 137661570 C T SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known silent c.393 p.P131 0.047 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 tier1 - - 93 0 0.00 60 16 20.78 CDH11 0 genome.wustl.edu 37 16 65005506 65005506 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 65005506 65005506 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1618 p.N540D 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 113 0 0.00 96 28 22.58 CDH18 0 genome.wustl.edu 37 5 19721508 19721508 + Silent SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 5 19721508 19721508 C A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.591 p.V197 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 112 0 0.00 67 26 27.96 COL4A1 0 genome.wustl.edu 37 13 110831318 110831318 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 13 110831318 110831318 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2410 p.P804S 0.995 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 16 0 0.00 7 5 41.67 COMTD1 0 genome.wustl.edu 37 10 76993798 76993798 + RNA SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 10 76993798 76993798 C A SNP COMTD1 ENST00000460899 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors COMTD1 HGNC ENSG00000165644 tier1 - - 61 0 0.00 79 5 5.88 CPB1 0 genome.wustl.edu 37 3 148558474 148558474 + Missense_Mutation SNP G G C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 148558474 148558474 G C SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.274 p.V92L 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 tier1 - - 70 0 0.00 33 15 31.25 CTNNA2 0 genome.wustl.edu 37 2 80096986 80096986 + Silent SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 80096986 80096986 A G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.612 p.Q204 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 79 0 0.00 33 27 45.00 DDAH2 0 genome.wustl.edu 37 6 31695065 31695065 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 6 31695065 31695065 G A SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known silent c.807 p.G269 0.338 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 tier1 - - 120 0 0.00 80 24 22.86 DNER 0 genome.wustl.edu 37 2 230456533 230456535 + In_Frame_Del DEL GCT GCT - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 230456533 230456535 GCT - DEL DNER ENST00000341772 human ensembl 74_37 -1 known in_frame_del c.348_346 p.S116in_frame_del 0.003:0.004:0.006 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 30 0 0.00 20 5 20.00 DNHD1 0 genome.wustl.edu 37 11 6532527 6532527 + Silent SNP G G C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 6532527 6532527 G C SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known silent c.1260 p.V420 0.655 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 87 0 0.00 51 18 26.09 DOCK4 0 genome.wustl.edu 37 7 111634231 111634231 + Missense_Mutation SNP T T G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 111634231 111634231 T G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.274 p.T92P 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 123 0 0.00 107 61 36.31 DST 0 genome.wustl.edu 37 6 56495062 56495062 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 6 56495062 56495062 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4163 p.N1388S 0.999 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 216 0 0.00 102 69 40.35 DSTN 0 genome.wustl.edu 37 20 17581448 17581448 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 20 17581448 17581448 C T SNP DSTN ENST00000246069 human ensembl 74_37 +1 known silent c.69 p.C23 0.330 smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 tier1 - - 51 0 0.00 43 22 33.85 EHBP1 0 genome.wustl.edu 37 2 63092087 63092089 + In_Frame_Del DEL GAA GAA - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 63092087 63092089 GAA - DEL EHBP1 ENST00000263991 human ensembl 74_37 +1 known in_frame_del c.1084_1086 p.E365in_frame_del 1.000:1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 83 0 0.00 52 16 23.53 FASN 0 genome.wustl.edu 37 17 80053298 80053298 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 80053298 80053298 A G SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.178 p.F60L 1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 45 0 0.00 21 2 8.70 FCRL4 0 genome.wustl.edu 37 1 157550163 157550163 + RNA SNP T T G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 157550163 157550163 T G SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 78 0 0.00 59 20 25.32 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 46 0 0.00 48 6 11.11 FKBP7 0 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 20 0 0.00 19 3 13.64 FLG 0 genome.wustl.edu 37 1 152275530 152275530 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 152275530 152275530 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11832 p.I3944M 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 101 0 0.00 72 17 19.10 FOXP2 0 genome.wustl.edu 37 7 114302139 114302139 + Missense_Mutation SNP T T G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 114302139 114302139 T G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1742 p.L581R 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 tier1 - - 54 0 0.00 37 18 32.73 GALNT18 0 genome.wustl.edu 37 11 11470348 11470348 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 11470348 11470348 G A SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.371 p.A124V 1.000 NULL 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 tier1 - - 29 0 0.00 17 6 26.09 GPR22 0 genome.wustl.edu 37 7 107114764 107114764 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 107114764 107114764 C T SNP GPR22 ENST00000304402 human ensembl 74_37 +1 known missense c.259 p.L87F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 tier1 - - 137 0 0.00 87 35 28.69 HMCN1 0 genome.wustl.edu 37 1 186158899 186158899 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 186158899 186158899 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16797 p.E5599D 1.000 superfamily_Cadherin-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 60 0 0.00 31 17 34.69 HS6ST1 0 genome.wustl.edu 37 2 129025839 129025839 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 129025839 129025839 C T SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.1133 p.R378H 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 - - 57 0 0.00 31 19 38.00 IKZF1 0 genome.wustl.edu 37 7 50444413 50444413 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 50444413 50444413 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.343 p.G115R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 38 0 0.00 28 15 34.09 IL7 0 genome.wustl.edu 37 8 79646040 79646040 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 8 79646040 79646040 T C SNP IL7 ENST00000263851 human ensembl 74_37 -1 known missense c.442 p.K148E 1.000 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 - no_errors IL7 HGNC ENSG00000104432 tier1 - - 105 0 0.00 74 10 11.90 INPP1 0 genome.wustl.edu 37 2 191235835 191235835 + Missense_Mutation SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 191235835 191235835 G T SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.907 p.D303Y 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 tier1 - - 72 0 0.00 73 5 6.41 INPP1 0 genome.wustl.edu 37 2 191235836 191235836 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 191235836 191235836 A G SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.908 p.D303G 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 tier1 - - 72 0 0.00 74 5 6.33 INPP5B 0 genome.wustl.edu 37 1 38341336 38341336 + Missense_Mutation SNP C C G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 38341336 38341336 C G SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.1970 p.R657P 1.000 superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 - - 57 0 0.00 40 10 20.00 JAKMIP1 0 genome.wustl.edu 37 4 6050634 6050634 + Missense_Mutation SNP C C G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 4 6050634 6050634 C G SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1978 p.E660Q 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 66 0 0.00 42 10 19.23 KANK4 0 genome.wustl.edu 37 1 62740559 62740559 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 62740559 62740559 A C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.217 p.F73V 1.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 - - 139 0 0.00 93 36 27.91 KCNN2 0 genome.wustl.edu 37 5 113740264 113740264 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 5 113740264 113740264 A G SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.712 p.T238A 1.000 prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 141 0 0.00 104 48 31.58 KMT2C 0 genome.wustl.edu 37 7 151860574 151860574 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 151860574 151860574 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.10088 p.C3363Y 0.137 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 95 0 0.00 42 22 34.38 LOC150776 0 genome.wustl.edu 37 2 132258080 132258080 + RNA SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 132258080 132258080 G A SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 - - 70 0 0.00 75 11 12.79 LOC645752 0 genome.wustl.edu 37 15 78211201 78211203 + RNA DEL TCC TCC - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 15 78211201 78211203 TCC - DEL LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.994:0.996:1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 205 0 0.00 122 26 17.57 LRP1B 0 genome.wustl.edu 37 2 141643739 141643739 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 141643739 141643739 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3932 p.R1311K 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 58 0 0.00 31 25 44.64 LRP4 0 genome.wustl.edu 37 11 46920143 46920143 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 46920143 46920143 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.762 p.A254 0.002 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 156 0 0.00 106 29 21.48 LRRC45 0 genome.wustl.edu 37 17 79983272 79983272 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 79983272 79983272 G A SNP LRRC45 ENST00000306688 human ensembl 74_37 +1 known missense c.550 p.V184I 0.993 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 tier1 - - 67 0 0.00 53 13 19.70 MAGEE1 0 genome.wustl.edu 37 X 75650235 75650235 + Missense_Mutation SNP T T A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e X 75650235 75650235 T A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1912 p.L638I 0.277 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 23 0 0.00 13 9 40.91 MIR380 0 genome.wustl.edu 37 14 101491392 101491392 + RNA SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 14 101491392 101491392 G A SNP MIR380 ENST00000362112 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors MIR380 HGNC ENSG00000198982 tier1 - - 139 0 0.00 70 39 35.78 MXRA5 0 genome.wustl.edu 37 X 3241737 3241737 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e X 3241737 3241737 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.1989 p.T663 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 47 0 0.00 19 21 52.50 MYLPF 0 genome.wustl.edu 37 16 30387833 30387833 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 30387833 30387833 G A SNP MYLPF ENST00000322861 human ensembl 74_37 +1 known missense c.262 p.G88R 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYLPF HGNC ENSG00000180209 tier1 - - 48 0 0.00 36 6 14.29 NGFR 0 genome.wustl.edu 37 17 47583836 47583836 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 47583836 47583836 C T SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.384 p.C128 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 tier1 - - 34 0 0.00 13 7 35.00 NPAT 0 genome.wustl.edu 37 11 108043459 108043459 + Missense_Mutation SNP G G C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 108043459 108043459 G C SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.2252 p.S751C 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 108 0 0.00 83 12 12.63 NUCB2 0 genome.wustl.edu 37 11 17323309 17323309 + Nonsense_Mutation SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 17323309 17323309 G T SNP NUCB2 ENST00000323688 human ensembl 74_37 +1 known nonsense c.271 p.E91* 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NUCB2 HGNC ENSG00000070081 tier1 - - 58 0 0.00 67 6 8.22 OR10G8 0 genome.wustl.edu 37 11 123900553 123900553 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 123900553 123900553 C T SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.224 p.T75M 0.968 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 OR10G8 HGNC ENSG00000234560 tier1 - - 113 0 0.00 87 28 24.35 OR10S1 0 genome.wustl.edu 37 11 123847714 123847714 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 123847714 123847714 C T SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.685 p.V229I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 tier1 - - 41 0 0.00 38 12 24.00 OR1A1 0 genome.wustl.edu 37 17 3119043 3119043 + Silent SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 3119043 3119043 G T SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known silent c.129 p.L43 0.960 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 tier1 - - 148 0 0.00 71 34 32.38 OR2M5 0 genome.wustl.edu 37 1 248309230 248309230 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 248309230 248309230 C T SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.781 p.R261W 0.006 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 OR2M5 HGNC ENSG00000162727 tier1 - - 257 0 0.00 184 40 17.86 OTUD6A 0 genome.wustl.edu 37 X 69282587 69282587 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e X 69282587 69282587 C T SNP OTUD6A ENST00000338352 human ensembl 74_37 +1 known silent c.213 p.S71 0.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 tier1 - - 11 0 0.00 16 8 33.33 P2RY12 0 genome.wustl.edu 37 3 151055929 151055929 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 151055929 151055929 G A SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known silent c.705 p.N235 0.953 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 tier1 - - 60 0 0.00 48 16 25.00 PCDH17 0 genome.wustl.edu 37 13 58208918 58208918 + Missense_Mutation SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 13 58208918 58208918 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2238 p.E746D 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 54 0 0.00 25 8 24.24 PCDHB12 0 genome.wustl.edu 37 5 140590075 140590075 + Silent SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 5 140590075 140590075 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1596 p.G532 0.111 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 108 0 0.00 67 17 20.24 PCDHGA1 0 genome.wustl.edu 37 5 140712139 140712139 + Nonsense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 5 140712139 140712139 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known nonsense c.1888 p.R630* 0.260 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 89 0 0.00 49 18 26.87 PDE3B 0 genome.wustl.edu 37 11 14880746 14880746 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 14880746 14880746 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.2678 p.T893M 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 rs201854538 - 68 0 0.00 69 31 31.00 PHACTR3 0 genome.wustl.edu 37 20 58411617 58411617 + Splice_Site SNP T T A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 20 58411617 58411617 T A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known splice_site c.1384+2 e9+2 1.000 - - - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 59 0 0.00 63 9 12.50 PLD1 0 genome.wustl.edu 37 3 171330094 171330094 + Silent SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 171330094 171330094 G T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.2857 p.R953 0.991 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 61 0 0.00 67 4 5.63 PPP6R3 0 genome.wustl.edu 37 11 68305266 68305266 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 68305266 68305266 T C SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.134 p.I45T 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 tier1 - - 42 0 0.00 32 12 27.27 PRAMEF4 0 genome.wustl.edu 37 1 12941915 12941915 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 12941915 12941915 A G SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.635 p.V212A 0.001 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 118 0 0.00 83 42 33.33 PRMT2 0 genome.wustl.edu 37 21 48071737 48071737 + Missense_Mutation SNP G G C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 21 48071737 48071737 G C SNP PRMT2 ENST00000334494 human ensembl 74_37 +1 novel missense c.674 p.C225S 0.007 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 tier1 - - 31 0 0.00 23 4 14.81 PTBP2 0 genome.wustl.edu 37 1 97243261 97243261 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 97243261 97243261 A C SNP PTBP2 ENST00000394184 human ensembl 74_37 +1 known missense c.586 p.I196L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 tier1 - - 43 0 0.00 35 13 27.08 PTP4A3 0 genome.wustl.edu 37 8 142435158 142435158 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 8 142435158 142435158 A C SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known missense c.116 p.K39T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 tier1 - - 43 0 0.00 14 5 26.32 RHBDL3 0 genome.wustl.edu 37 17 30621406 30621406 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 30621406 30621406 C T SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known missense c.613 p.P205S 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 tier1 - - 100 0 0.00 79 15 15.79 RIMS2 0 genome.wustl.edu 37 8 104897701 104897701 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 8 104897701 104897701 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.874 p.S292G 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 68 0 0.00 49 7 12.50 RMND5A 0 genome.wustl.edu 37 2 86992988 86992988 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 86992988 86992988 A C SNP RMND5A ENST00000283632 human ensembl 74_37 +1 known missense c.695 p.Q232P 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 tier1 - - 31 0 0.00 22 6 21.43 RPH3A 0 genome.wustl.edu 37 12 113319638 113319638 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 12 113319638 113319638 C T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1313 p.P438L 0.021 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 98 0 0.00 44 15 25.42 RYR3 0 genome.wustl.edu 37 15 33954940 33954940 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 15 33954940 33954940 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.5209 p.V1737M 0.999 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 60 0 0.00 35 5 12.50 SGCG 0 genome.wustl.edu 37 13 23894857 23894857 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 13 23894857 23894857 G A SNP SGCG ENST00000218867 human ensembl 74_37 +1 known silent c.660 p.A220 0.902 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 tier1 - - 42 0 0.00 38 16 29.63 SLC13A1 0 genome.wustl.edu 37 7 122787309 122787309 + Missense_Mutation SNP A A T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 122787309 122787309 A T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.716 p.L239H 0.718 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 63 0 0.00 41 16 28.07 SLC6A1 0 genome.wustl.edu 37 3 11076340 11076340 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 11076340 11076340 T C SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.1651 p.Y551H 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 - - 73 0 0.00 32 22 40.00 SMARCA2 0 genome.wustl.edu 37 9 2056835 2056835 + Missense_Mutation SNP A A G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 9 2056835 2056835 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.1337 p.Q446R 1.000 pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-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,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 30 0 0.00 25 6 19.35 SMARCC1 0 genome.wustl.edu 37 3 47632284 47632284 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 47632284 47632284 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.3087 p.M1029I 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 tier1 - - 53 0 0.00 13 30 69.77 SNED1 0 genome.wustl.edu 37 2 241969879 241969879 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 241969879 241969879 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.392 p.T131M 0.996 smart_Nidogen_extracell_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 45 0 0.00 23 7 23.33 SOGA3 0 genome.wustl.edu 37 6 127836107 127836107 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 6 127836107 127836107 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1187 p.R396H 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 238 0 0.00 167 24 12.50 STAT4 0 genome.wustl.edu 37 2 191900898 191900898 + Missense_Mutation SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 191900898 191900898 T C SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1562 p.K521R 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 64 0 0.00 39 13 25.00 STK31 0 genome.wustl.edu 37 7 23872028 23872028 + RNA DEL G G - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 7 23872028 23872028 G - DEL STK31 ENST00000405627 human ensembl 74_37 +1 known rna NULL NULL 0.097 - - - no_errors STK31 HGNC ENSG00000196335 tier1 30 0 0.00 18 8 30.77 SYT4 0 genome.wustl.edu 37 18 40857245 40857246 + Frame_Shift_Ins INS - - T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 18 40857245 40857246 - T INS SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 67 0 0.00 35 2 5.41 TFAP2C 0 genome.wustl.edu 37 20 55211737 55211737 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 20 55211737 55211737 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.994 p.E332K 0.996 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 - - 59 0 0.00 87 27 23.68 TFAP2C 0 genome.wustl.edu 37 20 55211765 55211765 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 20 55211765 55211765 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.1022 p.G341E 0.984 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 - - 62 0 0.00 83 27 24.55 TFAP2C 0 genome.wustl.edu 37 20 55211787 55211787 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 20 55211787 55211787 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known silent c.1044 p.R348 0.999 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 - - 71 0 0.00 87 33 27.50 TLR4 0 genome.wustl.edu 37 9 120474912 120474912 + Missense_Mutation SNP A A T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 9 120474912 120474912 A T SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.506 p.E169V 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 78 0 0.00 53 21 28.38 TP53 0 genome.wustl.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 17 7578479 7578479 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.451 p.P151T 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934874 - 67 0 0.00 31 18 36.73 TPR 0 genome.wustl.edu 37 1 186340108 186340108 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 186340108 186340108 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.324 p.A108 0.576 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 189 0 0.00 156 23 12.78 TRIM51HP 0 genome.wustl.edu 37 11 55062998 55062998 + RNA SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 55062998 55062998 A C SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.192 - - - no_errors TRIM51HP HGNC ENSG00000166007 tier1 - - 52 0 0.00 32 11 25.58 TRPM5 0 genome.wustl.edu 37 11 2436672 2436672 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 11 2436672 2436672 G A SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known silent c.1164 p.D388 0.929 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 23 0 0.00 2 3 60.00 TTC39B 0 genome.wustl.edu 37 9 15185374 15185374 + Silent SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 9 15185374 15185374 G A SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known silent c.1518 p.A506 0.872 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 129 0 0.00 97 25 20.49 TTN 0 genome.wustl.edu 37 2 179616053 179616053 + Missense_Mutation SNP T T G TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 2 179616053 179616053 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11074 p.S3692R 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 96 0 0.00 90 13 12.62 UBE2E2 0 genome.wustl.edu 37 3 23250306 23250306 + Missense_Mutation SNP A A C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 3 23250306 23250306 A C SNP UBE2E2 ENST00000396703 human ensembl 74_37 +1 known missense c.116 p.K39T 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E2 HGNC ENSG00000182247 tier1 - - 44 0 0.00 24 23 48.94 VCL 0 genome.wustl.edu 37 10 75854083 75854083 + Silent SNP C C A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 10 75854083 75854083 C A SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.1407 p.A469 0.995 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 24 0 0.00 38 6 13.64 XKR8 0 genome.wustl.edu 37 1 28293487 28293487 + Missense_Mutation SNP G G A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 28293487 28293487 G A SNP XKR8 ENST00000373884 human ensembl 74_37 +1 known missense c.964 p.V322M 0.282 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 tier1 - - 71 0 0.00 58 14 19.44 ZNF267 0 genome.wustl.edu 37 16 31926807 31926808 + Frame_Shift_Del DEL TG TG - TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 31926807 31926808 TG - DEL ZNF267 ENST00000300870 human ensembl 74_37 +1 known frame_shift_del c.1237_1238 p.C413fs 0.902:0.992 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 ZNF267 HGNC ENSG00000185947 tier1 60 0 0.00 47 13 21.67 ZNF415 0 genome.wustl.edu 37 19 53613110 53613110 + Missense_Mutation SNP T T A TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 19 53613110 53613110 T A SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.332 p.N111I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 101 0 0.00 42 38 47.50 ZNF423 0 genome.wustl.edu 37 16 49671252 49671252 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 16 49671252 49671252 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1811 p.S604N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 78 0 0.00 60 8 11.76 ZNF683 0 genome.wustl.edu 37 1 26689617 26689617 + Missense_Mutation SNP C C T TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 1 26689617 26689617 C T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.1043 p.R348H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 24 0 0.00 16 3 15.79 ZNF7 0 genome.wustl.edu 37 8 146067830 146067830 + Silent SNP T T C TCGA-IN-A7NU-01A-22D-A34U-08 TCGA-IN-A7NU-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq badfddb1-aa9d-49d9-a6db-4724bf3a3ab3 18832024-4666-4fc7-8d3e-a3d8327d589e 8 146067830 146067830 T C SNP ZNF7 ENST00000325241 human ensembl 74_37 +1 known silent c.1338 p.C446 0.099 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 ZNF7 HGNC ENSG00000147789 tier1 - - 121 0 0.00 64 7 9.86