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 ABCA9 0 genome.wustl.edu 37 17 66992115 66992115 + Missense_Mutation SNP T T G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 66992115 66992115 T G SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.3476 p.Y1159S 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 - - 62 0 0.00 52 8 13.33 ABCG2 0 genome.wustl.edu 37 4 89061143 89061143 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 89061143 89061143 G A SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.5 p.S2F 0.973 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 30 0 0.00 26 2 7.14 ACACB 0 genome.wustl.edu 37 12 109610096 109610096 + Nonsense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 109610096 109610096 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known nonsense c.1052 p.W351* 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 51 0 0.00 56 4 6.67 ACSM3 0 genome.wustl.edu 37 16 20787204 20787204 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 16 20787204 20787204 G T SNP ACSM3 ENST00000289416 human ensembl 74_37 +1 known missense c.263 p.R88I 0.008 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 44 0 0.00 35 2 5.41 ACTA1 0 genome.wustl.edu 37 1 229567270 229567270 + Silent SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 229567270 229567270 G T SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.1110 p.S370 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 tier1 - - 41 0 0.00 37 21 36.21 ADRA1A 0 genome.wustl.edu 37 8 26721840 26721840 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 8 26721840 26721840 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.647 p.R216Q 0.983 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 44 0 0.00 48 4 7.69 AGAP1 0 genome.wustl.edu 37 2 237032618 237032618 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 237032618 237032618 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2426 p.A809V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 - - 140 0 0.00 103 39 27.46 AGBL5 0 genome.wustl.edu 37 2 27275949 27275949 + Silent SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 27275949 27275949 C A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.123 p.A41 0.975 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 55 0 0.00 32 15 31.91 AGTR2 0 genome.wustl.edu 37 X 115304321 115304321 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 115304321 115304321 T C SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.788 p.L263P 0.999 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 tier1 - - 23 0 0.00 24 9 27.27 AIM2 0 genome.wustl.edu 37 1 159032497 159032497 + Silent SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 159032497 159032497 G T SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known silent c.1017 p.A339 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 43 0 0.00 68 4 5.56 ALDH4A1 0 genome.wustl.edu 37 1 19203999 19203999 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 19203999 19203999 C A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1048 p.A350S 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 33 0 0.00 30 2 6.25 AMPD2 0 genome.wustl.edu 37 1 110172511 110172511 + Frame_Shift_Del DEL C C - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 110172511 110172511 C - DEL AMPD2 ENST00000256578 human ensembl 74_37 +1 known frame_shift_del c.2118 p.N706fs 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 tier1 91 0 0.00 87 25 22.32 AMY2B 0 genome.wustl.edu 37 1 104118225 104118225 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 104118225 104118225 C T SNP AMY2B ENST00000462971 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 40 0 0.00 35 14 28.57 ANKRD23 0 genome.wustl.edu 37 2 97508119 97508119 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 97508119 97508119 C T SNP ANKRD23 ENST00000318357 human ensembl 74_37 -1 known missense c.157 p.E53K 0.976 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD23 HGNC ENSG00000163126 tier1 - - 87 0 0.00 61 37 37.76 ANXA11 0 genome.wustl.edu 37 10 81918943 81918943 + Nonsense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 81918943 81918943 C A SNP ANXA11 ENST00000265447 human ensembl 74_37 -1 known nonsense c.1189 p.E397* 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinVII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 tier1 - - 29 0 0.00 27 4 12.90 ANXA11 0 genome.wustl.edu 37 10 81918942 81918942 + Missense_Mutation SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 81918942 81918942 T A SNP ANXA11 ENST00000265447 human ensembl 74_37 -1 known missense c.1190 p.E397V 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinVII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 28 0 0.00 26 3 10.34 APC 0 genome.wustl.edu 37 5 112175259 112175259 + Missense_Mutation SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 112175259 112175259 T A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.3968 p.V1323D 0.995 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 39 0 0.00 34 2 5.56 APC 0 genome.wustl.edu 37 5 112175285 112175285 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 112175285 112175285 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.3994 p.T1332A 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 39 0 0.00 34 2 5.56 APOB 0 genome.wustl.edu 37 2 21233395 21233395 + Silent SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 21233395 21233395 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.6345 p.L2115 0.025 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 32 0 0.00 32 2 5.88 ARHGAP28 0 genome.wustl.edu 37 18 6912058 6912058 + Splice_Site SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 18 6912058 6912058 G T SNP ARHGAP28 ENST00000314319 human ensembl 74_37 +1 known splice_site c.1619-1 e16-1 1.000 - - - no_errors ARHGAP28 HGNC ENSG00000088756 19 0 0.00 24 5 17.24 ARHGAP6 0 genome.wustl.edu 37 X 11206970 11206970 + Nonsense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 11206970 11206970 C A SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known nonsense c.955 p.G319* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 tier1 - - 22 0 0.00 19 4 17.39 ARL6IP6 0 genome.wustl.edu 37 2 153577006 153577006 + RNA SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 153577006 153577006 T C SNP ARL6IP6 ENST00000463690 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARL6IP6 HGNC ENSG00000177917 tier1 - - 50 0 0.00 53 18 25.35 ATP10B 0 genome.wustl.edu 37 5 160049468 160049468 + Missense_Mutation SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 160049468 160049468 T A SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.1745 p.D582V 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 48 0 0.00 20 19 48.72 AXIN2 0 genome.wustl.edu 37 17 63532605 63532605 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 63532605 63532605 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.1974 p.S658 0.713 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 44 0 0.00 28 4 12.50 BIRC6 0 genome.wustl.edu 37 2 32661251 32661251 + Missense_Mutation SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 32661251 32661251 A T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.3630 p.K1210N 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 77 0 0.00 90 11 10.89 BPIFA2 0 genome.wustl.edu 37 20 31767414 31767414 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 31767414 31767414 G T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.650 p.C217F 0.144 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 45 0 0.00 59 4 6.35 C12orf50 0 genome.wustl.edu 37 12 88388500 88388500 + Missense_Mutation SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 88388500 88388500 T A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.502 p.T168S 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 tier1 - - 67 0 0.00 69 4 5.48 CADM1 0 genome.wustl.edu 37 11 115049492 115049492 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 115049492 115049492 G A SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.1082 p.S361F 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 38 0 0.00 30 6 16.67 CBX6 0 genome.wustl.edu 37 22 39262318 39262318 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 22 39262318 39262318 T C SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.1135 p.T379A 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 - - 86 0 0.00 70 4 5.41 CCDC109B 0 genome.wustl.edu 37 4 110606473 110606473 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 110606473 110606473 C G SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known missense c.883 p.Q295E 0.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 tier1 - - 49 0 0.00 36 4 10.00 CCDC110 0 genome.wustl.edu 37 4 186380437 186380437 + Missense_Mutation SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 186380437 186380437 A T SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.1304 p.L435Q 0.825 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 29 0 0.00 31 3 8.82 CCDC169 0 genome.wustl.edu 37 13 36869957 36869957 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 36869957 36869957 T C SNP CCDC169 ENST00000239859 human ensembl 74_37 -1 known missense c.121 p.K41E 0.997 NULL NULL - no_errors CCDC169 HGNC ENSG00000242715 60 0 0.00 52 4 7.14 CCDC37 0 genome.wustl.edu 37 3 126155278 126155278 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 126155278 126155278 G T SNP CCDC37 ENST00000506204 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 37 0 0.00 34 4 10.53 CCDC74A 0 genome.wustl.edu 37 2 132287653 132287653 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 132287653 132287653 C G SNP CCDC74A ENST00000467992 human ensembl 74_37 +1 known missense c.103 p.H35D 0.000 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 70 0 0.00 90 5 5.26 CCNYL2 0 genome.wustl.edu 37 10 42965691 42965691 + RNA SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 42965691 42965691 T C SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 - - 52 0 0.00 46 8 14.81 CD3E 0 genome.wustl.edu 37 11 118175687 118175687 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 118175687 118175687 G T SNP CD3E ENST00000361763 human ensembl 74_37 +1 known missense c.20 p.W7L 0.997 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 tier1 - - 41 0 0.00 39 4 9.30 CEBPZ 0 genome.wustl.edu 37 2 37428939 37428939 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 37428939 37428939 T C SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.3133 p.T1045A 0.001 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 - - 47 0 0.00 47 23 32.86 CENPJ 0 genome.wustl.edu 37 13 25480757 25480757 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 25480757 25480757 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known silent c.1419 p.L473 0.017 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 32 0 0.00 39 4 9.30 CHCHD6 0 genome.wustl.edu 37 3 126423151 126423151 + RNA SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 126423151 126423151 T C SNP CHCHD6 ENST00000514908 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors CHCHD6 HGNC ENSG00000159685 tier1 - - 43 0 0.00 42 5 10.64 CHST10 0 genome.wustl.edu 37 2 101010094 101010094 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 101010094 101010094 G A SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known silent c.828 p.N276 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 31 0 0.00 32 4 11.11 CIC 0 genome.wustl.edu 37 19 42791176 42791177 + Frame_Shift_Ins INS - - TGTT TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 42791176 42791177 - TGTT INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.236_237 p.A81fs 0.970:0.968 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 84 0 0.00 49 25 33.78 CLDN15 0 genome.wustl.edu 37 7 100877648 100877648 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 100877648 100877648 G A SNP CLDN15 ENST00000308344 human ensembl 74_37 -1 known missense c.293 p.A98V 0.306 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15 - no_errors CLDN15 HGNC ENSG00000106404 tier1 - - 42 0 0.00 47 4 7.84 CLEC4A 0 genome.wustl.edu 37 12 8276480 8276480 + Silent SNP T T G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 8276480 8276480 T G SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known silent c.6 p.T2 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 tier1 - - 37 0 0.00 18 27 60.00 CMYA5 0 genome.wustl.edu 37 5 79030465 79030465 + Silent SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 79030465 79030465 A G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.5877 p.Q1959 0.031 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 23 0 0.00 18 10 35.71 CNNM4 0 genome.wustl.edu 37 2 97427122 97427122 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 97427122 97427122 C A SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.386 p.S129Y 0.998 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 tier1 - - 25 0 0.00 18 7 28.00 CNOT2 0 genome.wustl.edu 37 12 70738008 70738008 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 70738008 70738008 T C SNP CNOT2 ENST00000229195 human ensembl 74_37 +1 known missense c.1391 p.L464P 1.000 pfam_NOT pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 tier1 - - 46 0 0.00 57 8 12.31 CNTNAP1 0 genome.wustl.edu 37 17 40842780 40842780 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 40842780 40842780 C T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1879 p.R627W 0.246 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 34 0 0.00 39 3 6.82 COL4A2 0 genome.wustl.edu 37 13 111077333 111077333 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 111077333 111077333 G A SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.349 p.D117N 0.998 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 74 0 0.00 58 4 6.45 CPED1 0 genome.wustl.edu 37 7 120782104 120782104 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 120782104 120782104 A G SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.1964 p.E655G 0.017 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 - - 73 0 0.00 89 8 8.16 CROCCP2 0 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs9728628 - 17 0 0.00 13 4 23.53 CROCCP2 0 genome.wustl.edu 37 1 16946164 16946164 + RNA SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 16946164 16946164 A G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs59600364 - 14 0 0.00 17 6 26.09 CTNND2 0 genome.wustl.edu 37 5 10973545 10973545 + RNA SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 10973545 10973545 G A SNP CTNND2 ENST00000495388 human ensembl 74_37 -1 known rna NULL NULL 0.924 - - - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 53 0 0.00 93 15 13.89 DCAF17 0 genome.wustl.edu 37 2 172305295 172305295 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 172305295 172305295 G T SNP DCAF17 ENST00000375255 human ensembl 74_37 +1 known missense c.426 p.E142D 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 tier1 - - 85 0 0.00 60 7 10.45 DCAF17 0 genome.wustl.edu 37 2 172305296 172305296 + Nonsense_Mutation SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 172305296 172305296 A T SNP DCAF17 ENST00000375255 human ensembl 74_37 +1 known nonsense c.427 p.K143* 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 tier1 - - 85 0 0.00 60 8 11.76 DGKB 0 genome.wustl.edu 37 7 14652969 14652969 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 14652969 14652969 C T SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1357 p.E453K 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 83 0 0.00 117 17 12.69 DHX8 0 genome.wustl.edu 37 17 41601024 41601024 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 41601024 41601024 A G SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3472 p.T1158A 1.000 pfam_DUF1605,superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 61 0 0.00 66 14 17.50 DNAH14 0 genome.wustl.edu 37 1 225237932 225237932 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 225237932 225237932 C A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.1933 p.Q645K 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 61 0 0.00 58 67 53.60 DNAH5 0 genome.wustl.edu 37 5 13870950 13870950 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 13870950 13870950 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.3760 p.R1254G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 75 0 0.00 114 32 21.92 DPYD-AS1 0 genome.wustl.edu 37 1 97771865 97771865 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 97771865 97771865 G T SNP DPYD-AS1 ENST00000422980 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DPYD-AS1 HGNC ENSG00000232878 tier1 - - 45 0 0.00 36 16 30.77 DROSHA 0 genome.wustl.edu 37 5 31424578 31424578 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 31424578 31424578 C G SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.3217 p.D1073H 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 47 0 0.00 94 9 8.74 DTHD1 0 genome.wustl.edu 37 4 36345331 36345331 + Frame_Shift_Del DEL T T - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 36345331 36345331 T - DEL DTHD1 ENST00000456874 human ensembl 74_37 +1 known frame_shift_del c.2231 p.L744fs 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 tier1 26 0 0.00 10 7 41.18 DUS3L 0 genome.wustl.edu 37 19 5788046 5788046 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 5788046 5788046 A G SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.1084 p.F362L 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 tier1 - - 55 0 0.00 28 32 53.33 DYTN 0 genome.wustl.edu 37 2 207557996 207557996 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 207557996 207557996 G T SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.883 p.L295I 0.387 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 34 0 0.00 32 2 5.88 DZIP1 0 genome.wustl.edu 37 13 96282275 96282275 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 96282275 96282275 C T SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.778 p.A260T 0.262 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 tier1 - - 43 0 0.00 46 4 8.00 EFNB3 0 genome.wustl.edu 37 17 7611541 7611541 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 7611541 7611541 C T SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known missense c.388 p.R130C 0.986 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 tier1 - - 47 0 0.00 50 4 7.41 EIF4A1 0 genome.wustl.edu 37 17 7479902 7479902 + Frame_Shift_Del DEL G G - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 7479902 7479902 G - DEL EIF4A1 ENST00000293831 human ensembl 74_37 +1 known frame_shift_del c.406 p.G137fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 tier1 35 0 0.00 31 2 6.06 ELTD1 0 genome.wustl.edu 37 1 79383662 79383662 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 79383662 79383662 C T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1535 p.G512D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 12 0 0.00 24 2 7.69 EMILIN3 0 genome.wustl.edu 37 20 39990470 39990470 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 39990470 39990470 A G SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.1739 p.L580P 0.299 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 33 0 0.00 37 4 9.76 EMR1 0 genome.wustl.edu 37 19 6937659 6937659 + Silent SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 6937659 6937659 G T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known silent c.2655 p.T885 0.971 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 24 0 0.00 29 4 12.12 ENSG00000221346 0 genome.wustl.edu 37 1 47968307 47968307 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 47968307 47968307 G T SNP ENSG00000221346 ENST00000408419 human ensembl 74_37 +1 novel rna NULL NULL 0.002 - - - no_errors AL356458.1 Clone_based_ensembl_gene ENSG00000221346 tier1 - - 43 0 0.00 50 4 7.41 ENSG00000222899 0 genome.wustl.edu 37 14 27396981 27396981 + RNA SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 27396981 27396981 T A SNP ENSG00000222899 ENST00000410967 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL110292.1 Clone_based_ensembl_gene ENSG00000222899 tier1 - - 200 0 0.00 133 70 34.48 ENSG00000244227 0 genome.wustl.edu 37 3 167638415 167638415 + RNA SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 167638415 167638415 G A SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 0.092 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 71 0 0.00 64 25 28.09 EPSTI1 0 genome.wustl.edu 37 13 43537397 43537397 + Silent SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 43537397 43537397 T C SNP EPSTI1 ENST00000313640 human ensembl 74_37 -1 known silent c.483 p.R161 1.000 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 tier1 rs150771459 - 85 0 0.00 66 9 12.00 EVL 0 genome.wustl.edu 37 14 100599115 100599115 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 100599115 100599115 T C SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.899 p.M300T 0.984 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 61 0 0.00 26 18 40.00 EXD2 0 genome.wustl.edu 37 14 69701736 69701736 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 69701736 69701736 G A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1037 p.G346D 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 37 0 0.00 33 4 10.81 FABP6 0 genome.wustl.edu 37 5 159640768 159640768 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 159640768 159640768 G A SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known missense c.77 p.C26Y 0.000 NULL superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 45 0 0.00 37 2 5.13 FAM151A 0 genome.wustl.edu 37 1 55075032 55075032 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 55075032 55075032 A G SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known missense c.1667 p.L556P 0.997 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 39 0 0.00 51 4 7.27 FAR1 0 genome.wustl.edu 37 11 13729559 13729559 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 13729559 13729559 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known missense c.478 p.R160C 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 tier1 - - 55 0 0.00 63 4 5.97 FARP1 0 genome.wustl.edu 37 13 99083388 99083388 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 99083388 99083388 G C SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.1997 p.R666T 0.733 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 36 0 0.00 17 11 39.29 FCRL5 0 genome.wustl.edu 37 1 157485719 157485719 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 157485719 157485719 G T SNP FCRL5 ENST00000462218 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 19 0 0.00 12 10 45.45 FMO3 0 genome.wustl.edu 37 1 171086361 171086361 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 171086361 171086361 G A SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1378 p.E460K 0.996 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 tier1 - - 36 0 0.00 31 14 31.11 FOXJ1 0 genome.wustl.edu 37 17 74134094 74134094 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 74134094 74134094 C T SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.606 p.A202 0.653 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 tier1 - - 66 0 0.00 50 8 13.79 FRAS1 0 genome.wustl.edu 37 4 79460559 79460559 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 79460559 79460559 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11410 p.D3804N 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 33 0 0.00 13 11 45.83 FREM2 0 genome.wustl.edu 37 13 39452315 39452315 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 39452315 39452315 C A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8716 p.L2906M 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 54 0 0.00 73 4 5.13 FRMPD4 0 genome.wustl.edu 37 X 12734448 12734448 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 12734448 12734448 A G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.1870 p.S624G 0.122 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 14 0 0.00 4 7 63.64 FSIP2 0 genome.wustl.edu 37 2 186620970 186620970 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 186620970 186620970 C G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.1310 p.P437R 0.012 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 51 0 0.00 48 10 17.24 FTH1P10 0 genome.wustl.edu 37 5 17354553 17354553 + RNA SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 17354553 17354553 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors FTH1P10 HGNC ENSG00000223361 tier1 - - 61 0 0.00 51 24 31.58 FTO 0 genome.wustl.edu 37 16 53967949 53967949 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 16 53967949 53967949 G C SNP FTO ENST00000471389 human ensembl 74_37 +1 known missense c.1292 p.R431T 1.000 NULL NULL - no_errors FTO HGNC ENSG00000140718 tier1 - - 84 0 0.00 30 32 51.61 GABRA6 0 genome.wustl.edu 37 5 161115980 161115980 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 161115980 161115980 G A SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 55 0 0.00 45 3 6.25 GABRB3 0 genome.wustl.edu 37 15 26806324 26806324 + Splice_Site SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 15 26806324 26806324 C A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known splice_site c.836-1 e8-1 1.000 - - - no_errors GABRB3 HGNC ENSG00000166206 38 0 0.00 52 3 5.45 GBAP1 0 genome.wustl.edu 37 1 155185406 155185406 + RNA SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 155185406 155185406 A T SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GBAP1 HGNC ENSG00000160766 tier1 - - 65 0 0.00 66 7 9.59 GCFC2 0 genome.wustl.edu 37 2 75921495 75921495 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 75921495 75921495 G C SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.892 p.Q298E 0.018 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 tier1 - - 72 0 0.00 85 10 10.53 GNN 0 genome.wustl.edu 37 12 104283269 104283269 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 104283269 104283269 C T SNP GNN ENST00000548520 human ensembl 74_37 -1 known rna NULL NULL 0.094 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 tier1 - - 34 0 0.00 32 9 21.95 GRIA2 0 genome.wustl.edu 37 4 158254480 158254480 + Missense_Mutation SNP A A C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 158254480 158254480 A C SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1130 p.E377A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 98 0 0.00 47 28 37.33 HGD 0 genome.wustl.edu 37 3 120365861 120365861 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 120365861 120365861 C T SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.508 p.G170S 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 tier1 - - 38 0 0.00 56 20 26.32 HK3 0 genome.wustl.edu 37 5 176308099 176308099 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 176308099 176308099 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.2747 p.R916H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 tier1 - - 48 0 0.00 22 30 57.69 HMGXB3 0 genome.wustl.edu 37 5 149389760 149389760 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 149389760 149389760 C T SNP HMGXB3 ENST00000502717 human ensembl 74_37 +1 known silent c.399 p.I133 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB3 HGNC ENSG00000113716 tier1 - - 44 0 0.00 51 4 7.27 HNRNPR 0 genome.wustl.edu 37 1 23636857 23636857 + RNA SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 23636857 23636857 A T SNP HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 - - 37 0 0.00 24 15 38.46 HOXD12 0 genome.wustl.edu 37 2 176964615 176964615 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 176964615 176964615 T C SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known missense c.86 p.L29P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 tier1 - - 27 0 0.00 10 3 23.08 IL22RA1 0 genome.wustl.edu 37 1 24460793 24460793 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 24460793 24460793 G A SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel missense c.439 p.R147C 0.000 pfam_Interferon_alpha/beta_rcpt_bsu pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 - - 49 0 0.00 37 21 36.21 ILK 0 genome.wustl.edu 37 11 6631755 6631755 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 6631755 6631755 C T SNP ILK ENST00000299421 human ensembl 74_37 +1 known silent c.1272 p.L424 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 tier1 - - 45 0 0.00 51 15 22.73 INPP5K 0 genome.wustl.edu 37 17 1399635 1399635 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 1399635 1399635 G T SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.1163 p.S388Y 0.995 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 tier1 - - 64 0 0.00 62 4 6.06 IRS4 0 genome.wustl.edu 37 X 107977530 107977530 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 107977530 107977530 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2045 p.A682V 0.969 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 51 0 0.00 52 4 7.14 ITGB4 0 genome.wustl.edu 37 17 73726332 73726332 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 73726332 73726332 G C SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.749 p.G250A 1.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 63 0 0.00 78 12 13.33 KCNA4 0 genome.wustl.edu 37 11 30034735 30034735 + RNA SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 30034735 30034735 G A SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 75 0 0.00 64 4 5.88 KCNH7 0 genome.wustl.edu 37 2 163302673 163302673 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 163302673 163302673 A G SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.1409 p.F470S 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 28 0 0.00 30 2 6.25 KIAA0319 0 genome.wustl.edu 37 6 24588968 24588968 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 6 24588968 24588968 T C SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.847 p.S283G 0.087 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 40 0 0.00 46 29 38.67 KIAA1731 0 genome.wustl.edu 37 11 93416746 93416746 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 93416746 93416746 G C SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.787 p.E263Q 1.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 33 0 0.00 34 9 20.93 KIRREL 0 genome.wustl.edu 37 1 158063493 158063493 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 158063493 158063493 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1708 p.R570W 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 36 0 0.00 31 7 18.42 KLC1 0 genome.wustl.edu 37 14 104123994 104123994 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 104123994 104123994 G A SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known missense c.373 p.A125T 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 tier1 - - 54 0 0.00 54 4 6.90 KLHDC7A 0 genome.wustl.edu 37 1 18809629 18809629 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 18809629 18809629 C T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known silent c.2154 p.C718 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 45 0 0.00 51 3 5.56 KMT2C 0 genome.wustl.edu 37 7 151962134 151962134 + Nonsense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 151962134 151962134 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.1173 p.C391* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger 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 rs146238849 - 145 0 0.00 117 9 7.14 KMT2C 0 genome.wustl.edu 37 7 151962168 151962168 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 151962168 151962168 C A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1139 p.R380L 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING 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 rs138908625 - 183 0 0.00 169 16 8.65 KNDC1 0 genome.wustl.edu 37 10 135015007 135015007 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 135015007 135015007 A G SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.2998 p.K1000E 0.951 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 51 0 0.00 55 4 6.78 LIFR 0 genome.wustl.edu 37 5 38490352 38490352 + Nonsense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 38490352 38490352 C A SNP LIFR ENST00000263409 human ensembl 74_37 -1 known nonsense c.2107 p.G703* 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 89 0 0.00 143 15 9.49 LINC00612 0 genome.wustl.edu 37 12 9208308 9208308 + RNA SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 9208308 9208308 A G SNP LINC00612 ENST00000538094 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00612 HGNC ENSG00000214851 tier1 - - 58 0 0.00 31 28 47.46 LLGL1 0 genome.wustl.edu 37 17 18137986 18137986 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 18137986 18137986 A G SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.874 p.N292D 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 - - 74 0 0.00 61 25 29.07 LMTK3 0 genome.wustl.edu 37 19 49002994 49002994 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 49002994 49002994 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.1419 p.P473 0.935 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 37 0 0.00 42 3 6.67 LOC100128317 0 genome.wustl.edu 37 7 81218218 81218218 + RNA SNP A A C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 81218218 81218218 A C SNP LOC100128317 ENST00000413944 human ensembl 74_37 -1 known rna NULL NULL 0.787 - - - no_errors AC010091.1 Clone_based_vega_gene ENSG00000233491 tier1 - - 38 0 0.00 47 10 17.54 LOC101927795 0 genome.wustl.edu 37 2 201676577 201676577 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 201676577 201676577 C T SNP LOC101927795 ENST00000447972 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors AC007163.6 Clone_based_vega_gene ENSG00000230408 tier1 - - 59 0 0.00 54 10 15.62 LOC101930657 0 genome.wustl.edu 37 1 745347 745347 + RNA SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 745347 745347 T C SNP LOC101930657 ENST00000412115 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 tier1 - - 25 0 0.00 29 9 23.68 LOC440905 0 genome.wustl.edu 37 2 130808123 130808124 + RNA INS - - CT TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 130808123 130808124 - CT INS LOC440905 ENST00000325390 human ensembl 74_37 -1 known rna NULL NULL 0.180:0.170 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 12 0 0.00 5 2 28.57 LRRIQ1 0 genome.wustl.edu 37 12 85492759 85492759 + Missense_Mutation SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 85492759 85492759 A T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3196 p.I1066F 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 34 0 0.00 54 8 12.90 LTBP1 0 genome.wustl.edu 37 2 33413734 33413734 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 33413734 33413734 C A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1517 p.P506Q 0.971 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 45 0 0.00 31 19 38.00 MALAT1 0 genome.wustl.edu 37 11 65271488 65271488 + RNA SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 65271488 65271488 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 31 0 0.00 15 12 44.44 MASP1 0 genome.wustl.edu 37 3 186953887 186953887 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 186953887 186953887 G T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1772 p.A591D 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 21 0 0.00 22 8 26.67 MT-RNR2 0 genome.wustl.edu 37 MT 2928 2928 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c MT 2928 2928 C T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 119 0 0.00 37 180 82.95 MTIF2 0 genome.wustl.edu 37 2 55490859 55490859 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 55490859 55490859 C T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.136 p.A46T 0.004 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 51 0 0.00 54 4 6.90 MUC12 0 genome.wustl.edu 37 7 100644340 100644340 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 100644340 100644340 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.10496 p.G3499D 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 107 0 0.00 85 19 18.27 MUC19 0 genome.wustl.edu 37 12 40919410 40919410 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 40919410 40919410 C T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 86 0 0.00 59 44 41.90 MYBPC3 0 genome.wustl.edu 37 11 47362785 47362785 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 47362785 47362785 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.1801 p.L601 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 37 0 0.00 25 10 28.57 MYT1 0 genome.wustl.edu 37 20 62871250 62871250 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 62871250 62871250 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.3312 p.P1104 0.018 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 rs149774713 - 68 0 0.00 53 6 10.17 NAV3 0 genome.wustl.edu 37 12 78392116 78392116 + Splice_Site SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 78392116 78392116 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known splice_site c.741-1 e7-1 1.000 - - - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 27 0 0.00 19 14 42.42 NCL 0 genome.wustl.edu 37 2 232320317 232320317 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 232320317 232320317 G A SNP NCL ENST00000322723 human ensembl 74_37 -1 known silent c.1851 p.F617 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 20 0 0.00 22 2 8.33 NCOA6 0 genome.wustl.edu 37 20 33330742 33330742 + Silent SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 33330742 33330742 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.3318 p.G1106 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 50 0 0.00 63 4 5.97 NDST1 0 genome.wustl.edu 37 5 149900924 149900924 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 149900924 149900924 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.108 p.Y36 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 51 0 0.00 39 17 30.36 NPM1 0 genome.wustl.edu 37 5 170817096 170817096 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 170817096 170817096 G C SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known missense c.100 p.D34H 1.000 superfamily_Nucleoplasmin_core_dom superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 tier1 - - 82 0 0.00 41 10 19.23 NRXN3 0 genome.wustl.edu 37 14 80158529 80158529 + Silent SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 80158529 80158529 T C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.3597 p.N1199 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 39 0 0.00 11 11 50.00 NUDT16 0 genome.wustl.edu 37 3 131102146 131102146 + Silent SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 131102146 131102146 T C SNP NUDT16 ENST00000521288 human ensembl 74_37 +1 known silent c.549 p.S183 0.378 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC ENSG00000198585 tier1 - - 40 0 0.00 58 4 6.45 NUPR1 0 genome.wustl.edu 37 16 28549406 28549406 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 16 28549406 28549406 C T SNP NUPR1 ENST00000324873 human ensembl 74_37 -1 known silent c.183 p.G61 1.000 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 tier1 - - 31 0 0.00 36 5 12.20 OR5AR1 0 genome.wustl.edu 37 11 56431333 56431333 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 56431333 56431333 C T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.172 p.P58S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 tier1 - - 67 0 0.00 54 16 22.86 OR5H2 0 genome.wustl.edu 37 3 98002101 98002101 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 98002101 98002101 G A SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 tier1 - - 48 0 0.00 57 4 6.56 OR6B2 0 genome.wustl.edu 37 2 240968939 240968939 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 240968939 240968939 T C SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.908 p.K303R 0.018 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 tier1 - - 61 0 0.00 56 4 6.67 OR8G5 0 genome.wustl.edu 37 11 124135465 124135465 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 124135465 124135465 C T SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.743 p.T248I 0.002 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 OR8G5 HGNC ENSG00000255298 tier1 - - 98 0 0.00 97 34 25.95 PARP4 0 genome.wustl.edu 37 13 25016071 25016072 + Frame_Shift_Del DEL TT TT - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 25016071 25016072 TT - DEL PARP4 ENST00000381989 human ensembl 74_37 -1 known frame_shift_del c.3579_3578 p.K1193fs 0.338:0.838 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 42 0 0.00 31 5 13.89 PCDHGB1 0 genome.wustl.edu 37 5 140729955 140729955 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 140729955 140729955 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.128 p.S43L 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 76 0 0.00 34 15 30.61 PHF19 0 genome.wustl.edu 37 9 123625142 123625142 + RNA SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 9 123625142 123625142 C T SNP PHF19 ENST00000467266 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PHF19 HGNC ENSG00000119403 tier1 - - 12 0 0.00 14 7 33.33 PHKA2 0 genome.wustl.edu 37 X 18954191 18954191 + Nonsense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 18954191 18954191 G C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known nonsense c.1119 p.Y373* 0.986 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 18 0 0.00 8 6 42.86 PIGO 0 genome.wustl.edu 37 9 35092618 35092618 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 9 35092618 35092618 C T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.1266 p.P422 0.884 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 27 0 0.00 19 2 9.52 PIKFYVE 0 genome.wustl.edu 37 2 209150489 209150489 + Missense_Mutation SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 209150489 209150489 T C SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.653 p.L218S 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 40 0 0.00 52 13 20.00 PKD1L2 0 genome.wustl.edu 37 16 81219257 81219257 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 16 81219257 81219257 G A SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.1837 p.R613C 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 tier1 rs199529211 - 73 0 0.00 47 42 47.19 PLXNA2 0 genome.wustl.edu 37 1 208218548 208218548 + Frame_Shift_Del DEL T T - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 208218548 208218548 T - DEL PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_del c.3503 p.N1168fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 31 0 0.00 25 3 10.71 POLD1 0 genome.wustl.edu 37 19 50905960 50905960 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 50905960 50905960 G C SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.932 p.R311P 0.992 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 tier1 - - 39 0 0.00 38 7 15.56 POU4F2 0 genome.wustl.edu 37 4 147561259 147561261 + In_Frame_Del DEL CAC CAC - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 147561259 147561261 CAC - DEL POU4F2 ENST00000281321 human ensembl 74_37 +1 known in_frame_del c.529_531 p.H180in_frame_del 1.000:1.000:0.999 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 tier1 52 0 0.00 29 2 6.45 PRAMEF5 0 genome.wustl.edu 37 1 13365855 13365855 + Missense_Mutation SNP T T G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 13365855 13365855 T G SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.299 p.L100R 0.003 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 130 0 0.00 68 7 9.33 PRAMEF6 0 genome.wustl.edu 37 1 13001384 13001384 + Missense_Mutation SNP A A C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 13001384 13001384 A C SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.299 p.L100R 0.007 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 214 0 0.00 167 16 8.70 PROS1 0 genome.wustl.edu 37 3 93593094 93593094 + Missense_Mutation SNP A A T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 93593094 93593094 A T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.2026 p.S676T 0.065 NULL pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,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 PROS1 HGNC ENSG00000184500 tier1 - - 80 0 0.00 109 22 16.79 PTCHD3 0 genome.wustl.edu 37 10 27702567 27702567 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 27702567 27702567 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.613 p.E205K 0.004 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 20 0 0.00 34 2 5.56 RAD17 0 genome.wustl.edu 37 5 68692375 68692376 + Splice_Site INS - - A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 68692375 68692376 - A INS RAD17 ENST00000380774 human ensembl 74_37 +1 known splice_site_ins c.1605+2_1605+1 e13+2 1.000:0.992 - - - no_errors RAD17 HGNC ENSG00000152942 tier1 17 0 0.00 16 5 23.81 RANBP1 0 genome.wustl.edu 37 22 20109826 20109826 + Silent SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 22 20109826 20109826 C G SNP RANBP1 ENST00000331821 human ensembl 74_37 +1 known silent c.192 p.L64 0.833 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP1 HGNC ENSG00000099901 tier1 - - 27 0 0.00 22 12 34.29 RAPGEF2 0 genome.wustl.edu 37 4 160189325 160189325 + Silent SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 160189325 160189325 C A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known silent c.18 p.I6 0.999 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 49 0 0.00 63 5 7.35 RASL11B 0 genome.wustl.edu 37 4 53729447 53729447 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 53729447 53729447 G A SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.155 p.R52Q 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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 RASL11B HGNC ENSG00000128045 tier1 - - 69 0 0.00 55 4 6.78 RBM48 0 genome.wustl.edu 37 7 92163945 92163945 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 92163945 92163945 G T SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known missense c.678 p.K226N 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 51 0 0.00 56 3 5.08 RGS2 0 genome.wustl.edu 37 1 192778269 192778269 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 192778269 192778269 G A SNP RGS2 ENST00000235382 human ensembl 74_37 +1 known missense c.68 p.G23D 0.061 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 RGS2 HGNC ENSG00000116741 71 0 0.00 66 4 5.71 RGSL1 0 genome.wustl.edu 37 1 182443066 182443066 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 182443066 182443066 G T SNP RGSL1 ENST00000294854 human ensembl 74_37 +1 known missense c.820 p.A274S 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 tier1 - - 29 0 0.00 24 12 33.33 RNF167 0 genome.wustl.edu 37 17 4846522 4846522 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 4846522 4846522 C T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known silent c.519 p.Y173 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 tier1 - - 70 0 0.00 73 4 5.19 RSPH10B 0 genome.wustl.edu 37 7 6000459 6000459 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 6000459 6000459 C T SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known missense c.436 p.V146M 0.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 tier1 - - 48 0 0.00 49 31 38.75 S1PR1 0 genome.wustl.edu 37 1 101704654 101704654 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 101704654 101704654 C T SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known silent c.114 p.S38 0.021 prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 tier1 - - 61 0 0.00 30 14 31.82 SACS 0 genome.wustl.edu 37 13 23915230 23915230 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 13 23915230 23915230 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.2785 p.R929C 0.995 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 39 0 0.00 32 12 27.27 SCAMP4 0 genome.wustl.edu 37 19 1917794 1917794 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 1917794 1917794 G A SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known missense c.109 p.V37M 0.992 pfam_SCAMP pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 40 0 0.00 28 2 6.67 SERPINB11 0 genome.wustl.edu 37 18 61377452 61377452 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 18 61377452 61377452 G A SNP SERPINB11 ENST00000538847 human ensembl 74_37 +1 known missense c.25 p.V9I 0.003 pfam_Serpin_dom,superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 tier1 - - 61 0 0.00 73 7 8.75 SETD1B 0 genome.wustl.edu 37 12 122257764 122257764 + Silent SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 122257764 122257764 G C SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known silent c.3744 p.V1248 0.089 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 80 0 0.00 47 32 40.51 SLC41A2 0 genome.wustl.edu 37 12 105198776 105198777 + RNA INS - - A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 105198776 105198777 - A INS SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.757:0.849 - - - no_errors SLC41A2 HGNC ENSG00000136052 tier1 36 0 0.00 36 4 10.00 SLC8A2 0 genome.wustl.edu 37 19 47960551 47960551 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 47960551 47960551 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.976 p.H326Y 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 13 0 0.00 5 10 66.67 SLCO1A2 0 genome.wustl.edu 37 12 21447016 21447016 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 12 21447016 21447016 C G SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1300 p.D434H 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 47 0 0.00 17 18 51.43 SMARCA4 0 genome.wustl.edu 37 19 11152145 11152145 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 11152145 11152145 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.4429 p.R1477W 1.000 superfamily_Bromodomain 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 - - 69 0 0.00 35 100 70.92 SRGAP3 0 genome.wustl.edu 37 3 9100060 9100060 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 9100060 9100060 C A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.898 p.D300Y 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 64 0 0.00 43 27 38.57 SRP54 0 genome.wustl.edu 37 14 35483965 35483965 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 35483965 35483965 A G SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.902 p.E301G 1.000 superfamily_Signal_recog_particle_SRP54_M,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 tier1 - - 42 0 0.00 24 3 11.11 SRRM2 0 genome.wustl.edu 37 16 2812116 2812116 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 16 2812116 2812116 G T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1587 p.Q529H 0.986 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 46 0 0.00 42 4 8.70 SUN5 0 genome.wustl.edu 37 20 31571644 31571644 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 31571644 31571644 G T SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known missense c.1096 p.P366T 0.451 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 tier1 - - 74 0 0.00 89 10 10.10 TACC2 0 genome.wustl.edu 37 10 123987479 123987479 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 10 123987479 123987479 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.7852 p.L2618 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 35 0 0.00 35 3 7.89 TANC1 0 genome.wustl.edu 37 2 160086369 160086369 + Nonsense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 160086369 160086369 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known nonsense c.4432 p.Q1478* 0.569 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 26 0 0.00 19 3 13.64 TBCEL 0 genome.wustl.edu 37 11 120930683 120930683 + Missense_Mutation SNP C C G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 120930683 120930683 C G SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.845 p.P282R 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 tier1 - - 72 0 0.00 65 20 23.53 TBX20 0 genome.wustl.edu 37 7 35284578 35284578 + Missense_Mutation SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 35284578 35284578 G T SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.637 p.L213M 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 83 0 0.00 83 9 9.68 TC2N 0 genome.wustl.edu 37 14 92251624 92251624 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 92251624 92251624 C T SNP TC2N ENST00000340892 human ensembl 74_37 -1 known missense c.1244 p.G415E 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 tier1 - - 56 0 0.00 53 4 7.02 TCF4 0 genome.wustl.edu 37 18 53017598 53017598 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 18 53017598 53017598 G A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.847 p.P283S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 45 0 0.00 59 4 6.35 TIGD2 0 genome.wustl.edu 37 4 90034819 90034819 + Frame_Shift_Del DEL A A - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 90034819 90034819 A - DEL TIGD2 ENST00000317005 human ensembl 74_37 +1 known frame_shift_del c.694 p.K233fs 0.931 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 tier1 43 0 0.00 28 2 6.67 TIGD6 0 genome.wustl.edu 37 5 149375184 149375187 + Frame_Shift_Del DEL GAAT GAAT - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 GAAT GAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 5 149375184 149375187 GAAT - DEL TIGD6 ENST00000296736 human ensembl 74_37 -1 known frame_shift_del c.728_725 p.H242fs 0.917:0.791:0.794:0.949 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 tier1 49 0 0.00 49 13 20.97 TMED10 0 genome.wustl.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 14 75601711 75601712 - A INS TMED10 ENST00000303575 human ensembl 74_37 -1 known splice_site_ins c.539-3_539-2 e5-2 1.000:0.961 - - - no_errors TMED10 HGNC ENSG00000170348 tier1 35 0 0.00 32 4 11.11 TMEM132E 0 genome.wustl.edu 37 17 32953491 32953491 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 32953491 32953491 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.413 p.S138L 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 80 0 0.00 34 32 48.48 TMEM185B 0 genome.wustl.edu 37 2 120980160 120980160 + Silent SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 120980160 120980160 G C SNP TMEM185B ENST00000426077 human ensembl 74_37 -1 known silent c.393 p.V131 0.987 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC ENSG00000226479 tier1 - - 32 0 0.00 26 9 25.71 TMEM200C 0 genome.wustl.edu 37 18 5892004 5892004 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 18 5892004 5892004 G C SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.59 p.P20R 0.958 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 tier1 - - 44 0 0.00 51 7 12.07 TOP2B 0 genome.wustl.edu 37 3 25672379 25672379 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 25672379 25672379 C T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1318 p.A440T 1.000 pfam_Topo_IIA_bsu_dom2,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 42 0 0.00 24 27 52.94 TP53 0 genome.wustl.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 17 7577106 7577106 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.832 p.P278A 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs17849781 - 31 0 0.00 21 22 51.16 TRAPPC9 0 genome.wustl.edu 37 8 141461322 141461322 + Nonsense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 8 141461322 141461322 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known nonsense c.445 p.R149* 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 23 0 0.00 27 23 46.00 TRIM26 0 genome.wustl.edu 37 6 30154080 30154082 + In_Frame_Del DEL TCC TCC - TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 6 30154080 30154082 TCC - DEL TRIM26 ENST00000437089 human ensembl 74_37 -1 known in_frame_del c.1193_1191 p.E400in_frame_del 0.559:0.740:0.761 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 tier1 26 0 0.00 29 2 6.45 TRNT1 0 genome.wustl.edu 37 3 3179029 3179029 + Missense_Mutation SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 3179029 3179029 A G SNP TRNT1 ENST00000251607 human ensembl 74_37 +1 known missense c.234 p.I78M 0.999 pfam_PolA_pol_head_dom pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 68 0 0.00 51 4 7.27 TRPC1 0 genome.wustl.edu 37 3 142511809 142511809 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 3 142511809 142511809 G A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known silent c.1581 p.Q527 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 tier1 - - 41 0 0.00 42 31 42.47 TTN 0 genome.wustl.edu 37 2 179428350 179428350 + Silent SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 179428350 179428350 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.74805 p.G24935 0.746 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 75 0 0.00 59 24 28.92 TUT1 0 genome.wustl.edu 37 11 62346473 62346473 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 11 62346473 62346473 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.834 p.S278 0.506 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 65 0 0.00 53 4 7.02 UBIAD1 0 genome.wustl.edu 37 1 11333870 11333870 + Silent SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 11333870 11333870 G A SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known silent c.282 p.V94 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 tier1 - - 74 0 0.00 65 5 7.14 ULK4P3 0 genome.wustl.edu 37 15 30406189 30406189 + RNA SNP G G T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 15 30406189 30406189 G T SNP ULK4P3 ENST00000566138 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors ULK4P3 HGNC ENSG00000178081 tier1 - - 78 0 0.00 55 27 32.93 UNCX 0 genome.wustl.edu 37 7 1273157 1273157 + Missense_Mutation SNP C C A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 1273157 1273157 C A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.276 p.D92E 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 tier1 - - 101 0 0.00 120 10 7.69 UTP3 0 genome.wustl.edu 37 4 71554761 71554761 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 71554761 71554761 G A SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.367 p.V123M 0.003 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 35 0 0.00 24 4 14.29 WDR65 0 genome.wustl.edu 37 1 43664319 43664320 + Splice_Site INS - - A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 1 43664319 43664320 - A INS WDR65 ENST00000528956 human ensembl 74_37 +1 known splice_site_ins c.1428+2_1428+1 e7+2 1.000:0.995 - - - no_errors WDR65 HGNC ENSG00000243710 tier1 31 0 0.00 65 9 12.16 XKR4 0 genome.wustl.edu 37 8 56436193 56436193 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 8 56436193 56436193 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1360 p.R454C 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 57 0 0.00 53 22 29.33 XRCC2 0 genome.wustl.edu 37 7 152345900 152345900 + Nonsense_Mutation SNP T T A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 7 152345900 152345900 T A SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known nonsense c.670 p.R224* 0.996 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 tier1 - - 55 0 0.00 58 4 6.45 ZBTB7A 0 genome.wustl.edu 37 19 4048040 4048040 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 4048040 4048040 C T SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1465 p.G489S 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 30 0 0.00 21 3 12.50 ZDBF2 0 genome.wustl.edu 37 2 207174427 207174428 + Frame_Shift_Ins INS - - A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 2 207174427 207174428 - A INS ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_ins c.5175_5176 p.R1728fs 0.000:0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 29 0 0.00 27 2 6.90 ZFP14 0 genome.wustl.edu 37 19 36831606 36831606 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 36831606 36831606 C T SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known silent c.1122 p.G374 1.000 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 ZFP14 HGNC ENSG00000142065 tier1 - - 57 0 0.00 44 4 8.33 ZFP64 0 genome.wustl.edu 37 20 50701305 50701305 + Nonsense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 20 50701305 50701305 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known nonsense c.1729 p.Q577* 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 33 0 0.00 33 4 10.81 ZMAT1 0 genome.wustl.edu 37 X 101186955 101186955 + RNA SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c X 101186955 101186955 G A SNP ZMAT1 ENST00000488347 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 10 0 0.00 4 4 50.00 ZNF160 0 genome.wustl.edu 37 19 53571879 53571879 + Silent SNP A A G TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 53571879 53571879 A G SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known silent c.1908 p.L636 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 ZNF160 HGNC ENSG00000170949 tier1 - - 104 0 0.00 69 4 5.48 ZNF536 0 genome.wustl.edu 37 19 30936428 30936428 + Silent SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 30936428 30936428 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.1959 p.H653 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 105 0 0.00 54 30 35.71 ZNF70 0 genome.wustl.edu 37 22 24087105 24087105 + Nonsense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 22 24087105 24087105 G A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known nonsense c.223 p.Q75* 0.143 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 tier1 - - 65 0 0.00 69 4 5.48 ZNF876P 0 genome.wustl.edu 37 4 206477 206477 + RNA SNP T T C TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 4 206477 206477 T C SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF876P HGNC ENSG00000198155 tier1 - - 91 0 0.00 44 21 32.31 ZSCAN5C 0 genome.wustl.edu 37 19 56720435 56720435 + Missense_Mutation SNP G G A TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7145197-3b67-4711-9569-3fee8911f214 b97bffec-210a-4795-a4f5-4711185cba7c 19 56720435 56720435 G A SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.1357 p.A453T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 tier1 - - 50 0 0.00 63 4 5.97