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 A2M 0 genome.wustl.edu 37 12 9265954 9265954 + Splice_Site SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 9265954 9265954 A C SNP A2M ENST00000318602 human ensembl 74_37 -1 known splice_site c.270+2 e2+2 1.000 - - - no_errors A2M HGNC ENSG00000175899 tier1 - - 34 0 0.00 25 23 47.92 A3GALT2 0 genome.wustl.edu 37 1 33778163 33778163 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 33778163 33778163 C T SNP A3GALT2 ENST00000442999 human ensembl 74_37 -1 novel missense c.136 p.V46I 0.000 NULL pfam_Glyco_trans_6 - no_errors A3GALT2 HGNC ENSG00000184389 tier1 - - 28 0 0.00 50 5 9.09 ABCA12 0 genome.wustl.edu 37 2 215884502 215884502 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 215884502 215884502 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.1306 p.L436V 0.750 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 10 0 0.00 8 4 33.33 ABCC8 0 genome.wustl.edu 37 11 17415923 17415923 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 17415923 17415923 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.4438 p.E1480K 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 58 0 0.00 61 5 7.58 ACSM2A 0 genome.wustl.edu 37 16 20489909 20489909 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 20489909 20489909 T A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1191 p.D397E 0.037 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 45 0 0.00 49 8 14.04 ADAMDEC1 0 genome.wustl.edu 37 8 24261565 24261565 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 24261565 24261565 G T SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known missense c.1370 p.G457V 0.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 tier1 - - 67 0 0.00 108 7 6.09 ADAMTS12 0 genome.wustl.edu 37 5 33534969 33534969 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 33534969 33534969 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4575 p.K1525N 0.002 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 64 0 0.00 61 34 35.79 ADAMTS16 0 genome.wustl.edu 37 5 5235215 5235215 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 5235215 5235215 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1939 p.F647V 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 27 0 0.00 20 17 45.95 ADAMTS3 0 genome.wustl.edu 37 4 73185073 73185073 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 73185073 73185073 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.1328 p.G443D 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 65 0 0.00 58 10 14.71 AK7 0 genome.wustl.edu 37 14 96871175 96871175 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 96871175 96871175 A C SNP AK7 ENST00000267584 human ensembl 74_37 +1 known missense c.376 p.M126L 0.391 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 tier1 - - 57 0 0.00 34 21 38.18 AKAP12 0 genome.wustl.edu 37 6 151674115 151674116 + In_Frame_Ins INS - - GGA TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 151674115 151674116 - GGA INS AKAP12 ENST00000253332 human ensembl 74_37 +1 known in_frame_ins c.4589_4590 p.I1530in_frame_insMD 0.000:0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 45 0 0.00 47 30 38.96 AKR1D1 0 genome.wustl.edu 37 7 137801463 137801463 + RNA SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 137801463 137801463 A C SNP AKR1D1 ENST00000468877 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1D1 HGNC ENSG00000122787 tier1 - - 31 0 0.00 45 26 36.62 ALOX12P2 0 genome.wustl.edu 37 17 6801973 6801973 + RNA SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 6801973 6801973 T C SNP ALOX12P2 ENST00000570890 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors ALOX12P2 HGNC ENSG00000262943 tier1 - - 77 0 0.00 93 7 7.00 ANP32AP1 0 genome.wustl.edu 37 15 35530031 35530031 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 35530031 35530031 G A SNP ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 - - 102 0 0.00 72 57 44.19 ARMCX4 0 genome.wustl.edu 37 X 100746753 100746753 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 100746753 100746753 A C SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.3177 p.E1059D 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 51 0 0.00 40 17 29.82 ATG2A 0 genome.wustl.edu 37 11 64677211 64677211 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 64677211 64677211 G T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.2049 p.S683R 0.988 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 52 0 0.00 76 4 5.00 ATP10A 0 genome.wustl.edu 37 15 25940173 25940173 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 25940173 25940173 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2881 p.S961A 0.001 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 ATP10A HGNC ENSG00000206190 tier1 - - 70 0 0.00 47 28 36.84 ATP10A 0 genome.wustl.edu 37 15 25959021 25959021 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 25959021 25959021 A G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2144 p.V715A 0.995 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP10A HGNC ENSG00000206190 tier1 - - 70 0 0.00 67 19 22.09 ATP10B 0 genome.wustl.edu 37 5 160029694 160029694 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 160029694 160029694 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3253 p.D1085N 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 25 0 0.00 26 8 23.53 ATP6V0D1 0 genome.wustl.edu 37 16 67487538 67487538 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 67487538 67487538 C T SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.211 p.D71N 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 51 0 0.00 55 3 5.17 BCL11A 0 genome.wustl.edu 37 2 60780615 60780617 + RNA DEL AGC AGC - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 60780615 60780617 AGC - DEL BCL11A ENST00000409351 human ensembl 74_37 -1 putative rna NULL NULL 0.909:0.897:0.883 - - - no_errors BCL11A HGNC ENSG00000119866 tier1 10 0 0.00 5 4 44.44 BCR 0 genome.wustl.edu 37 22 23651720 23651720 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 23651720 23651720 G A SNP BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 - - 106 0 0.00 119 27 18.49 BICC1 0 genome.wustl.edu 37 10 60562964 60562964 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 60562964 60562964 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2143 p.A715T 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 15 0 0.00 24 8 25.00 BMP3 0 genome.wustl.edu 37 4 81952653 81952653 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 81952653 81952653 C T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.215 p.A72V 0.006 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 tier1 - - 45 0 0.00 37 18 32.73 BMS1P8 0 genome.wustl.edu 37 16 33490018 33490018 + RNA SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 33490018 33490018 T C SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 rs28645082 - 14 0 0.00 11 9 45.00 BOD1L1 0 genome.wustl.edu 37 4 13592067 13592067 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 13592067 13592067 C G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8152 p.E2718Q 0.191 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 41 0 0.00 35 3 7.89 BPTF 0 genome.wustl.edu 37 17 65941986 65941986 + Nonsense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 65941986 65941986 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known nonsense c.7540 p.Q2514* 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 46 0 0.00 58 36 38.30 C10orf71 0 genome.wustl.edu 37 10 50533184 50533184 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 50533184 50533184 C T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.2594 p.T865I 1.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 55 0 0.00 28 18 39.13 C14orf80 0 genome.wustl.edu 37 14 105959065 105959065 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 105959065 105959065 G T SNP C14orf80 ENST00000392523 human ensembl 74_37 +1 known silent c.579 p.L193 0.999 NULL NULL - no_errors C14orf80 HGNC ENSG00000185347 20 0 0.00 16 4 19.05 C3orf55 0 genome.wustl.edu 37 3 157363570 157363570 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 157363570 157363570 T C SNP C3orf55 ENST00000461040 human ensembl 74_37 +1 putative missense c.97 p.S33P 0.000 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 43 0 0.00 94 10 9.62 C3orf65 0 genome.wustl.edu 37 3 185434228 185434228 + Splice_Site SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 185434228 185434228 G T SNP C3orf65 ENST00000296270 human ensembl 74_37 +1 known splice_site c.62-1 e2-1 0.001 - - - no_errors C3orf65 HGNC ENSG00000163915 tier1 - - 24 0 0.00 30 4 11.76 C9orf152 0 genome.wustl.edu 37 9 112969817 112969817 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 112969817 112969817 A G SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known missense c.43 p.W15R 0.852 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 20 0 0.00 26 3 10.34 CACNA1A 0 genome.wustl.edu 37 19 13319692 13319694 + In_Frame_Del DEL GAT GAT - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 13319692 13319694 GAT - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known in_frame_del c.6658_6656 p.H2219in_frame_del 1.000:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 15 0 0.00 20 4 16.67 CACNA2D3 0 genome.wustl.edu 37 3 54798378 54798378 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 54798378 54798378 T C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.1380 p.T460 0.990 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 44 0 0.00 30 20 40.00 CAPN12 0 genome.wustl.edu 37 19 39229076 39229076 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 39229076 39229076 G A SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.872 p.T291M 0.030 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 tier1 - - 74 0 0.00 64 26 28.89 CCDC37 0 genome.wustl.edu 37 3 126135332 126135332 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 126135332 126135332 G T SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.399 p.W133C 0.998 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 27 0 0.00 30 9 23.08 CCDC86 0 genome.wustl.edu 37 11 60609946 60609946 + Nonsense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 60609946 60609946 C T SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known nonsense c.349 p.Q117* 0.470 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 tier1 - - 23 0 0.00 19 14 42.42 CD1E 0 genome.wustl.edu 37 1 158324300 158324300 + Silent SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 158324300 158324300 T A SNP CD1E ENST00000368167 human ensembl 74_37 +1 known silent c.192 p.T64 0.600 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 31 0 0.00 42 4 8.70 CDH12 0 genome.wustl.edu 37 5 21783502 21783502 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 21783502 21783502 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1358 p.A453V 0.738 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 47 0 0.00 42 3 6.67 CELP 0 genome.wustl.edu 37 9 135962487 135962487 + RNA SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 135962487 135962487 G C SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CELP HGNC ENSG00000170827 tier1 rs76117078 - 9 0 0.00 7 11 61.11 CELP 0 genome.wustl.edu 37 9 135962494 135962494 + RNA DEL C C - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 135962494 135962494 C 0 DEL CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CELP HGNC ENSG00000170827 9 0 0.00 5 12 70.59 CENPF 0 genome.wustl.edu 37 1 214813616 214813616 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 214813616 214813616 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.1935 p.N645 0.004 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 20 0 0.00 24 3 11.11 CHD2 0 genome.wustl.edu 37 15 93522467 93522467 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 93522467 93522467 G T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.2830 p.D944Y 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 32 0 0.00 45 4 8.16 CHD8 0 genome.wustl.edu 37 14 21899011 21899011 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 21899011 21899011 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.792 p.A264 0.975 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 22 0 0.00 31 3 8.82 CHM 0 genome.wustl.edu 37 X 85233730 85233730 + RNA SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 85233730 85233730 A C SNP CHM ENST00000487515 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CHM HGNC ENSG00000188419 tier1 - - 25 0 0.00 25 10 28.57 CHST7 0 genome.wustl.edu 37 X 46433545 46433545 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 46433545 46433545 C T SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known missense c.179 p.A60V 1.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 tier1 - - 33 0 0.00 25 13 34.21 CIDEA 0 genome.wustl.edu 37 18 12254815 12254815 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 12254815 12254815 G A SNP CIDEA ENST00000522713 human ensembl 74_37 +1 known missense c.433 p.D145N 0.000 NULL NULL - no_errors CIDEA HGNC ENSG00000176194 tier1 - - 52 0 0.00 66 4 5.71 CIRBP-AS1 0 genome.wustl.edu 37 19 1268245 1268245 + RNA SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 1268245 1268245 C T SNP CIRBP-AS1 ENST00000585832 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 tier1 - - 48 0 0.00 41 13 24.07 CNGB3 0 genome.wustl.edu 37 8 87755756 87755756 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 87755756 87755756 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.100 p.S34R 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 71 0 0.00 122 20 14.08 CNTN1 0 genome.wustl.edu 37 12 41337803 41337803 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 41337803 41337803 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1514 p.T505M 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 19 0 0.00 10 19 65.52 COLEC12 0 genome.wustl.edu 37 18 347200 347200 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 347200 347200 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.422 p.A141V 0.874 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 75 0 0.00 90 29 24.37 CPS1 0 genome.wustl.edu 37 2 211512630 211512630 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 211512630 211512630 A C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3203 p.N1068T 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 80 0 0.00 72 14 16.28 CPS1 0 genome.wustl.edu 37 2 211542621 211542621 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 211542621 211542621 T G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.4433 p.L1478R 1.000 superfamily_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 23 0 0.00 34 22 39.29 CPSF1 0 genome.wustl.edu 37 8 145624696 145624696 + Silent SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 145624696 145624696 C G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.1362 p.S454 0.017 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 48 0 0.00 76 4 5.00 CR1 0 genome.wustl.edu 37 1 207755263 207755263 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 207755263 207755263 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known silent c.5217 p.G1739 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 149 0 0.00 165 28 14.51 CRHR1-IT1 0 genome.wustl.edu 37 17 43718893 43718893 + RNA SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 43718893 43718893 C T SNP CRHR1-IT1 ENST00000578000 human ensembl 74_37 +1 known rna NULL NULL 0.395 - - - no_errors CRHR1-IT1 HGNC ENSG00000204650 tier1 - - 22 0 0.00 23 11 32.35 CSMD1 0 genome.wustl.edu 37 8 3855585 3855585 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 3855585 3855585 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.658 p.S220A 0.985 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 55 0 0.00 44 22 33.33 CSMD3 0 genome.wustl.edu 37 8 113249528 113249528 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 113249528 113249528 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10518 p.N3506K 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 47 23 32.86 CSTF1 0 genome.wustl.edu 37 20 54978617 54978617 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 54978617 54978617 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.1130 p.S377N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 tier1 - - 53 0 0.00 71 8 10.13 CXXC4 0 genome.wustl.edu 37 4 105393329 105393330 + RNA INS - - T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 105393329 105393330 - T INS CXXC4 ENST00000466963 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.073 - - - no_errors CXXC4 HGNC ENSG00000168772 tier1 26 0 0.00 31 10 24.39 CYLC1 0 genome.wustl.edu 37 X 83124910 83124910 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 83124910 83124910 C T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.55 p.P19S 0.084 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 143 0 0.00 158 11 6.51 DBT 0 genome.wustl.edu 37 1 100681541 100681541 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 100681541 100681541 T G SNP DBT ENST00000370132 human ensembl 74_37 -1 known missense c.770 p.K257T 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 tier1 - - 67 0 0.00 40 42 51.22 DEFB118 0 genome.wustl.edu 37 20 29960724 29960724 + Silent SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 29960724 29960724 A T SNP DEFB118 ENST00000253381 human ensembl 74_37 +1 known silent c.123 p.G41 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 tier1 - - 37 0 0.00 65 17 20.73 DGCR14 0 genome.wustl.edu 37 22 19121821 19121821 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 19121821 19121821 C T SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.1319 p.S440N 0.993 NULL pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 tier1 - - 156 0 0.00 178 15 7.73 DGUOK 0 genome.wustl.edu 37 2 74184313 74184313 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 74184313 74184313 A T SNP DGUOK ENST00000264093 human ensembl 74_37 +1 known missense c.653 p.Y218F 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DGUOK HGNC ENSG00000114956 tier1 - - 26 0 0.00 38 4 9.52 DKC1 0 genome.wustl.edu 37 X 154002914 154002914 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 154002914 154002914 T C SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known missense c.1193 p.L398P 1.000 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 tier1 rs199422253 - 30 0 0.00 56 10 15.15 DLGAP2 0 genome.wustl.edu 37 8 1497818 1497818 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 1497818 1497818 A C SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.959 p.K320T 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 43 0 0.00 43 5 10.42 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 13717530 13717530 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200R 1.000 pfam_Dynein_heavy_dom 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 - - 30 0 0.00 11 13 54.17 DRD3 0 genome.wustl.edu 37 3 113850244 113850244 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 113850244 113850244 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.727 p.L243F 0.620 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 tier1 - - 62 0 0.00 76 7 8.33 DSEL 0 genome.wustl.edu 37 18 65179356 65179356 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 65179356 65179356 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2520 p.K840N 0.963 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 36 0 0.00 46 13 22.03 EDA2R 0 genome.wustl.edu 37 X 65824292 65824292 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 65824292 65824292 G T SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.323 p.T108K 0.715 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 tier1 - - 126 0 0.00 143 9 5.92 EDA2R 0 genome.wustl.edu 37 X 65824293 65824293 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 65824293 65824293 T A SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.322 p.T108S 0.921 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 tier1 - - 126 0 0.00 142 9 5.96 EIF4ENIF1 0 genome.wustl.edu 37 22 31859732 31859732 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 31859732 31859732 C T SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.520 p.D174N 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 tier1 - - 75 0 0.00 75 9 10.71 ELL 0 genome.wustl.edu 37 19 18557181 18557181 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 18557181 18557181 G T SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1642 p.R548 0.836 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 15 0 0.00 14 2 12.50 EMP1 0 genome.wustl.edu 37 12 13364407 13364408 + RNA INS - - T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 13364407 13364408 - T INS EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.990:0.991 - - - no_errors EMP1 HGNC ENSG00000134531 tier1 30 0 0.00 20 22 52.38 ENSG00000189316 0 genome.wustl.edu 37 7 64350004 64350004 + RNA SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 64350004 64350004 G T SNP ENSG00000189316 ENST00000340779 human ensembl 74_37 -1 known rna NULL NULL 0.135 - - - no_errors RP11-797H7.5 Clone_based_vega_gene ENSG00000189316 tier1 - - 64 0 0.00 41 13 24.07 ENSG00000203849 0 genome.wustl.edu 37 1 142716704 142716704 + RNA SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 142716704 142716704 G T SNP ENSG00000203849 ENST00000595144 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 57 0 0.00 66 13 16.46 ENSG00000205790 0 genome.wustl.edu 37 19 4682879 4682880 + RNA DEL AG AG - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 4682879 4682880 AG - DEL ENSG00000205790 ENST00000381796 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 tier1 35 0 0.00 35 4 10.26 ENSG00000214581 0 genome.wustl.edu 37 16 34682216 34682216 + RNA SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 34682216 34682216 A G SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 96 0 0.00 115 24 17.27 ENSG00000221457 0 genome.wustl.edu 37 3 147798632 147798632 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 147798632 147798632 G A SNP ENSG00000221457 ENST00000408530 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC092958.1 Clone_based_ensembl_gene ENSG00000221457 tier1 - - 33 0 0.00 24 29 54.72 ENSG00000226200 0 genome.wustl.edu 37 10 52390895 52390895 + RNA SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 52390895 52390895 C A SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.741 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 - - 73 0 0.00 90 17 15.74 ENSG00000233836 0 genome.wustl.edu 37 19 24014646 24014646 + RNA SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 24014646 24014646 A T SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 17 0 0.00 25 9 26.47 ENSG00000253917 0 genome.wustl.edu 37 4 3948525 3948525 + RNA SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 3948525 3948525 G T SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 0.823 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 tier1 - - 167 0 0.00 143 17 10.62 EPHA7 0 genome.wustl.edu 37 6 93956601 93956601 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 93956601 93956601 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2635 p.E879K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 60 0 0.00 63 7 10.00 EPHX3 0 genome.wustl.edu 37 19 15342188 15342188 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 15342188 15342188 G T SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.349 p.L117I 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 10 0 0.00 21 4 16.00 EPN2 0 genome.wustl.edu 37 17 19216546 19216546 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 19216546 19216546 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known silent c.1101 p.G367 0.017 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 tier1 - - 61 0 0.00 34 40 53.33 EVC2 0 genome.wustl.edu 37 4 5624676 5624676 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 5624676 5624676 A G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2089 p.F697L 0.001 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 23 0 0.00 23 4 14.81 F8 0 genome.wustl.edu 37 X 154158672 154158672 + Silent SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 154158672 154158672 A T SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.3393 p.T1131 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 25 0 0.00 36 10 21.74 FAM19A1 0 genome.wustl.edu 37 3 68466475 68466475 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 68466475 68466475 A G SNP FAM19A1 ENST00000478136 human ensembl 74_37 +1 known missense c.164 p.K55R 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A1 HGNC ENSG00000183662 tier1 - - 28 0 0.00 24 6 20.00 FAM47A 0 genome.wustl.edu 37 X 34149455 34149455 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 34149455 34149455 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.941 p.R314H 0.025 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 98 0 0.00 96 6 5.88 FANCI 0 genome.wustl.edu 37 15 89811630 89811630 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 89811630 89811630 G T SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.756 p.E252D 0.048 NULL NULL - no_errors FANCI HGNC ENSG00000140525 tier1 - - 47 0 0.00 76 4 5.00 FARP1 0 genome.wustl.edu 37 13 99047715 99047715 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 13 99047715 99047715 C G SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.1399 p.P467A 1.000 NULL 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 - - 26 0 0.00 35 5 12.50 FAT4 0 genome.wustl.edu 37 4 126240637 126240637 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 126240637 126240637 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3071 p.D1024G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 24 0 0.00 32 9 21.95 FAT4 0 genome.wustl.edu 37 4 126373295 126373295 + Silent SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 126373295 126373295 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.11124 p.T3708 0.003 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 76 0 0.00 82 21 20.39 FAT4 0 genome.wustl.edu 37 4 126411990 126411990 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 126411990 126411990 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14013 p.S4671R 0.899 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 40 0 0.00 43 11 20.37 FBN3 0 genome.wustl.edu 37 19 8161451 8161451 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 8161451 8161451 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5416 p.R1806W 1.000 smart_EGF-like_Ca-bd_dom,pirsf_FBN 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,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 31 0 0.00 25 10 28.57 FLVCR2 0 genome.wustl.edu 37 14 76091048 76091048 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 76091048 76091048 C T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.905 p.A302V 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 - - 57 0 0.00 55 23 29.49 FMNL2 0 genome.wustl.edu 37 2 153482063 153482063 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 153482063 153482063 A T SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1949 p.E650V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 23 0 0.00 24 4 14.29 FMR1NB 0 genome.wustl.edu 37 X 147088344 147088344 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 147088344 147088344 T C SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.520 p.F174L 0.003 superfamily_P_trefoil superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 tier1 - - 68 0 0.00 71 16 18.39 FOLH1 0 genome.wustl.edu 37 11 49208204 49208204 + Nonsense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 49208204 49208204 C A SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known nonsense c.631 p.G211* 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 40 0 0.00 65 9 12.16 FOXL2 0 genome.wustl.edu 37 3 138665331 138665331 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 138665331 138665331 G A SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known silent c.234 p.S78 0.993 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 tier1 - - 48 0 0.00 50 20 28.57 FUT9 0 genome.wustl.edu 37 6 96651724 96651724 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 96651724 96651724 G T SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.693 p.L231F 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 29 0 0.00 29 2 6.45 FZD1 0 genome.wustl.edu 37 7 90895993 90895993 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 90895993 90895993 T G SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1798 p.F600V 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 tier1 - - 31 0 0.00 62 23 27.06 GALNT9 0 genome.wustl.edu 37 12 132683738 132683738 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 132683738 132683738 C G SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known missense c.1478 p.C493S 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 tier1 - - 161 0 0.00 150 17 10.18 GHDC 0 genome.wustl.edu 37 17 40343180 40343180 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 40343180 40343180 A C SNP GHDC ENST00000301671 human ensembl 74_37 -1 known missense c.938 p.L313R 0.584 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 tier1 - - 9 0 0.00 19 5 20.83 GJA5 0 genome.wustl.edu 37 1 147230991 147230991 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 147230991 147230991 C A SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.356 p.G119V 0.002 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 tier1 - - 31 0 0.00 20 6 23.08 GJE1 0 genome.wustl.edu 37 6 142455173 142455173 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 142455173 142455173 A C SNP GJE1 ENST00000450456 human ensembl 74_37 +1 known missense c.226 p.S76R 0.989 pfam_Connexin_N pfam_Connexin_CCC,pfam_Connexin_N - no_errors GJE1 HGNC ENSG00000203733 tier1 - - 43 0 0.00 40 30 42.86 GPR113 0 genome.wustl.edu 37 2 26534262 26534262 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 26534262 26534262 C A SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.1737 p.L579F 0.953 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_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 27 0 0.00 38 8 17.39 GRID2 0 genome.wustl.edu 37 4 93511341 93511341 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 93511341 93511341 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.148 p.D50N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 55 0 0.00 44 7 13.73 GRID2 0 genome.wustl.edu 37 4 94137897 94137897 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 94137897 94137897 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.798 p.N266 0.972 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 56 0 0.00 42 10 19.23 GRIPAP1 0 genome.wustl.edu 37 X 48834841 48834841 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 48834841 48834841 T C SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1937 p.E646G 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 39 0 0.00 46 13 22.03 GRM3 0 genome.wustl.edu 37 7 86493638 86493638 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 86493638 86493638 G A SNP GRM3 ENST00000394720 human ensembl 74_37 +1 known missense c.1534 p.G512R 1.000 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt - no_errors GRM3 HGNC ENSG00000198822 36 0 0.00 48 3 5.88 GSDMC 0 genome.wustl.edu 37 8 130762254 130762254 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 130762254 130762254 G C SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1195 p.L399V 0.171 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 39 0 0.00 46 5 9.80 GSN 0 genome.wustl.edu 37 9 124080951 124080951 + Silent SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 124080951 124080951 C A SNP GSN ENST00000373818 human ensembl 74_37 +1 known silent c.1137 p.V379 0.674 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 tier1 - - 67 0 0.00 59 4 6.35 H2BFM 0 genome.wustl.edu 37 X 103294940 103294940 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 103294940 103294940 G A SNP H2BFM ENST00000243297 human ensembl 74_37 +1 known missense c.706 p.A236T 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFM HGNC ENSG00000101812 tier1 - - 52 0 0.00 45 14 23.33 HBB 0 genome.wustl.edu 37 11 5247854 5247854 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 5247854 5247854 T C SNP HBB ENST00000335295 human ensembl 74_37 -1 known missense c.268 p.S90G 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBB HGNC ENSG00000244734 tier1 - - 85 0 0.00 68 25 26.88 HDLBP 0 genome.wustl.edu 37 2 242179451 242179451 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 242179451 242179451 C A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2256 p.K752N 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 26 0 0.00 33 3 8.33 HEPH 0 genome.wustl.edu 37 X 65413355 65413355 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 65413355 65413355 A C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.1406 p.K469T 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 45 0 0.00 44 11 20.00 HERC1 0 genome.wustl.edu 37 15 64066901 64066901 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 64066901 64066901 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.922 p.R308C 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 39 0 0.00 55 9 14.06 HERC4 0 genome.wustl.edu 37 10 69716603 69716603 + RNA DEL A A - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 69716603 69716603 A - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 12 0 0.00 20 3 13.04 HIST1H1E 0 genome.wustl.edu 37 6 26156794 26156795 + Frame_Shift_Del DEL TG TG - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 26156794 26156795 TG - DEL HIST1H1E ENST00000304218 human ensembl 74_37 +1 known frame_shift_del c.176_177 p.L59fs 0.756:0.761 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 67 0 0.00 49 18 26.87 HIST1H1E 0 genome.wustl.edu 37 6 26156799 26156800 + Frame_Shift_Ins INS - - C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 26156799 26156800 - C INS HIST1H1E ENST00000304218 human ensembl 74_37 +1 known frame_shift_ins c.181_182 p.L62fs 1.000:1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 69 0 0.00 48 23 32.39 HIST1H2BO 0 genome.wustl.edu 37 6 27861281 27861281 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 27861281 27861281 G A SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known missense c.41 p.G14D 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BO HGNC ENSG00000196331 tier1 - - 45 0 0.00 53 4 7.02 HIVEP3 0 genome.wustl.edu 37 1 42049977 42049977 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 42049977 42049977 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.492 p.F164 0.266 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 31 0 0.00 30 18 37.50 HOXB8 0 genome.wustl.edu 37 17 46690707 46690707 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 46690707 46690707 G T SNP HOXB8 ENST00000239144 human ensembl 74_37 -1 known silent c.589 p.R197 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXB8 HGNC ENSG00000120068 tier1 - - 43 0 0.00 71 5 6.58 HP1BP3 0 genome.wustl.edu 37 1 21076257 21076257 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 21076257 21076257 T A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.1100 p.Y367F 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 tier1 - - 35 0 0.00 23 4 14.81 HRNR 0 genome.wustl.edu 37 1 152188213 152188213 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 152188213 152188213 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.5892 p.Y1964 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs141147625 - 411 0 0.00 633 43 6.36 HSP90AA4P 0 genome.wustl.edu 37 4 190396094 190396094 + RNA DEL A A - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 190396094 190396094 A - DEL HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 tier1 102 0 0.00 109 12 9.92 HUWE1 0 genome.wustl.edu 37 X 53602122 53602122 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 53602122 53602122 T A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6090 p.Q2030H 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 43 0 0.00 31 24 43.64 HYPK 0 genome.wustl.edu 37 15 44093677 44093677 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 44093677 44093677 G A SNP HYPK ENST00000498605 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HYPK HGNC ENSG00000242028 tier1 - - 38 0 0.00 17 19 52.78 IFI44 0 genome.wustl.edu 37 1 79125009 79125009 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 79125009 79125009 G A SNP IFI44 ENST00000370747 human ensembl 74_37 +1 known missense c.853 p.E285K 0.001 superfamily_P-loop_NTPase pfam_TLDc,superfamily_P-loop_NTPase - no_errors IFI44 HGNC ENSG00000137965 tier1 - - 26 0 0.00 11 6 35.29 IFI6 0 genome.wustl.edu 37 1 27994770 27994770 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 27994770 27994770 C T SNP IFI6 ENST00000339145 human ensembl 74_37 -1 known missense c.289 p.A97T 0.577 pfam_IFI6/IFI27 pfam_IFI6/IFI27 - no_errors IFI6 HGNC ENSG00000126709 8 0 0.00 1 3 75.00 IFIH1 0 genome.wustl.edu 37 2 163128830 163128830 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 163128830 163128830 A T SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.2522 p.I841N 0.253 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 45 0 0.00 41 3 6.82 IGLL1 0 genome.wustl.edu 37 22 23917190 23917190 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 23917190 23917190 G T SNP IGLL1 ENST00000330377 human ensembl 74_37 -1 known missense c.286 p.H96N 0.029 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL1 HGNC ENSG00000128322 tier1 - - 61 0 0.00 74 6 7.50 IGSF22 0 genome.wustl.edu 37 11 18737090 18737090 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 18737090 18737090 C G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.1420 p.E474Q 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 63 0 0.00 101 6 5.61 IL12RB2 0 genome.wustl.edu 37 1 67796382 67796382 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 67796382 67796382 G A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.847 p.D283N 0.185 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 37 0 0.00 22 4 15.38 IQSEC2 0 genome.wustl.edu 37 X 53349734 53349734 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 53349734 53349734 C T SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.588 p.P196 0.993 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 16 0 0.00 11 6 35.29 IRAK1 0 genome.wustl.edu 37 X 153281953 153281953 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 153281953 153281953 G C SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1171 p.L391V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 tier1 - - 92 0 0.00 71 72 50.35 ITGB5 0 genome.wustl.edu 37 3 124483298 124483298 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 124483298 124483298 G A SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known silent c.2244 p.I748 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 tier1 - - 28 0 0.00 42 12 22.22 KAT5 0 genome.wustl.edu 37 11 65486590 65486590 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 65486590 65486590 C T SNP KAT5 ENST00000341318 human ensembl 74_37 +1 known missense c.1579 p.R527W 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 tier1 - - 33 0 0.00 33 8 19.51 KAT6A 0 genome.wustl.edu 37 8 41798620 41798620 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 41798620 41798620 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2779 p.P927S 0.126 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 43 0 0.00 57 4 6.56 KCNA5 0 genome.wustl.edu 37 12 5154236 5154236 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 5154236 5154236 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.923 p.S308F 0.062 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 16 0 0.00 14 5 26.32 KCNC3 0 genome.wustl.edu 37 19 50826891 50826891 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 50826891 50826891 G A SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.1319 p.T440M 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 - - 46 0 0.00 71 5 6.58 KCNJ12 0 genome.wustl.edu 37 17 21319654 21319654 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 21319654 21319654 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.1000 p.E334K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 101 0 0.00 96 6 5.83 KDM2A 0 genome.wustl.edu 37 11 67012683 67012683 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 67012683 67012683 G A SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known silent c.1587 p.K529 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 36 0 0.00 33 23 41.07 KIAA0195 0 genome.wustl.edu 37 17 73494368 73494368 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 73494368 73494368 G A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.3602 p.R1201H 0.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 54 0 0.00 32 21 39.62 KIAA0922 0 genome.wustl.edu 37 4 154523312 154523312 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 154523312 154523312 G C SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.2275 p.D759H 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 - - 29 0 0.00 30 4 11.76 KIAA1191 0 genome.wustl.edu 37 5 175777628 175777628 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 175777628 175777628 G A SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known silent c.447 p.A149 0.995 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 tier1 - - 86 0 0.00 42 35 45.45 KIAA1210 0 genome.wustl.edu 37 X 118222391 118222391 + Silent SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 118222391 118222391 A C SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.2802 p.T934 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 28 0 0.00 20 15 42.86 KIAA1210 0 genome.wustl.edu 37 X 118222580 118222580 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 118222580 118222580 T C SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.2613 p.E871 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 30 0 0.00 39 10 20.41 KIAA1804 0 genome.wustl.edu 37 1 233512219 233512219 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 233512219 233512219 T A SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1870 p.L624I 0.022 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 tier1 - - 44 0 0.00 67 14 17.28 KIAA2022 0 genome.wustl.edu 37 X 73961267 73961267 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 73961267 73961267 T A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3125 p.E1042V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 48 0 0.00 45 8 15.09 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 75590 75591 + Frame_Shift_Ins INS - - TC TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e GL000209.1 75590 75591 - TC INS KIR2DL2 ENST00000400847 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.A227fs NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 115 0 0.00 122 37 23.27 KLK4 0 genome.wustl.edu 37 19 51410265 51410265 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 51410265 51410265 T G SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.690 p.Q230H 0.005 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 tier1 - - 43 0 0.00 46 13 22.03 KLK4 0 genome.wustl.edu 37 19 51411862 51411862 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 51411862 51411862 C T SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.448 p.V150I 0.006 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 tier1 - - 39 0 0.00 41 17 29.31 KLRF1 0 genome.wustl.edu 37 12 9994450 9994450 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 9994450 9994450 G A SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.377 p.C126Y 0.999 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRF1 HGNC ENSG00000150045 34 0 0.00 41 6 12.77 KRT14 0 genome.wustl.edu 37 17 39739836 39739836 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 39739836 39739836 G C SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.1020 p.N340K 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 56 0 0.00 444 111 20.00 KRT14 0 genome.wustl.edu 37 17 39742711 39742711 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 39742711 39742711 G A SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known silent c.376 p.L126 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 167 0 0.00 1273 344 21.27 KRTAP4-9 0 genome.wustl.edu 37 17 39262065 39262065 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 39262065 39262065 C G SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.425 p.S142C 0.014 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 tier1 - - 193 0 0.00 184 11 5.64 KRTAP4-9 0 genome.wustl.edu 37 17 39262140 39262140 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 39262140 39262140 C T SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.500 p.S167F 0.896 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 tier1 - - 175 0 0.00 167 10 5.65 LAMA1 0 genome.wustl.edu 37 18 6950865 6950865 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 6950865 6950865 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.8313 p.G2771 0.793 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 49 0 0.00 54 5 8.47 LAMA1 0 genome.wustl.edu 37 18 6961752 6961752 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 6961752 6961752 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7459 p.R2487W 0.986 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 31 0 0.00 31 5 13.89 LARP1B 0 genome.wustl.edu 37 4 128999117 128999117 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 128999117 128999117 G T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.217 p.A73S 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 tier1 - - 34 0 0.00 30 4 11.76 LETM2 0 genome.wustl.edu 37 8 38250325 38250325 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 38250325 38250325 C A SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.313 p.P105T 0.002 NULL pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 16 0 0.00 42 5 10.64 LEUTX 0 genome.wustl.edu 37 19 40276514 40276514 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 40276514 40276514 C T SNP LEUTX ENST00000396841 human ensembl 74_37 +1 novel silent c.246 p.D82 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,pfscan_Homeobox_dom - no_errors LEUTX HGNC ENSG00000213921 20 0 0.00 40 3 6.98 LILRB2 0 genome.wustl.edu 37 19 54784144 54784147 + Frame_Shift_Del DEL CAGA CAGA - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 54784144 54784147 CAGA 0 DEL LILRB2 ENST00000391749 human ensembl 74_37 -1 known frame_shift_del c.45_42 p.S14fs 0.003:0.001:0.005:0.023 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 109 0 0.00 179 14 7.25 LINGO3 0 genome.wustl.edu 37 19 2291315 2291315 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 2291315 2291315 C T SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.461 p.R154Q 0.206 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO3 HGNC ENSG00000220008 tier1 - - 56 0 0.00 48 11 18.64 LMOD1 0 genome.wustl.edu 37 1 201869675 201869675 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 201869675 201869675 G A SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.466 p.R156W 0.263 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 33 0 0.00 53 4 7.02 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 16 0 0.00 12 4 25.00 LOC100506013 0 genome.wustl.edu 37 4 165798450 165798450 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 165798450 165798450 G A SNP LOC100506013 ENST00000507152 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-366M4.3 Clone_based_vega_gene ENSG00000248329 tier1 - - 40 0 0.00 29 6 17.14 LOC101927345 0 genome.wustl.edu 37 1 143391544 143391544 + RNA SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 143391544 143391544 A T SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 187 0 0.00 207 24 10.39 LOC441666 0 genome.wustl.edu 37 10 42832803 42832803 + RNA SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 42832803 42832803 T C SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 36 0 0.00 45 18 28.57 LOXL2 0 genome.wustl.edu 37 8 23190975 23190975 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 23190975 23190975 A T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.905 p.V302E 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 30 0 0.00 47 3 6.00 LPCAT1 0 genome.wustl.edu 37 5 1489926 1489926 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 1489926 1489926 C G SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.541 p.D181H 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 tier1 - - 94 0 0.00 314 42 11.80 LRP1B 0 genome.wustl.edu 37 2 141458111 141458111 + Silent SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 141458111 141458111 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.6507 p.A2169 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 32 0 0.00 28 17 37.78 LRRC7 0 genome.wustl.edu 37 1 70446102 70446102 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 70446102 70446102 G T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.638 p.W213L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 53 0 0.00 34 14 29.17 LRRFIP2 0 genome.wustl.edu 37 3 37100291 37100291 + Silent SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 37100291 37100291 G T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known silent c.1860 p.I620 1.000 pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 32 0 0.00 40 4 9.09 LTBP1 0 genome.wustl.edu 37 2 33622241 33622241 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 33622241 33622241 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.4879 p.G1627S 1.000 superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 - - 68 0 0.00 67 34 33.66 MACF1 0 genome.wustl.edu 37 1 39734616 39734617 + Frame_Shift_Ins INS - - C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 39734616 39734617 - C INS MACF1 ENST00000496804 human ensembl 74_37 +1 known frame_shift_ins c.247_248 p.D86fs 0.002:0.001 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors MACF1 HGNC ENSG00000127603 tier1 30 0 0.00 57 9 13.64 MAF1 0 genome.wustl.edu 37 8 145160670 145160670 + Splice_Site SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 145160670 145160670 G A SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known splice_site c.83+1 e1+1 1.000 - - - no_errors MAF1 HGNC ENSG00000179632 tier1 - - 22 0 0.00 37 16 29.63 MAGEB5 0 genome.wustl.edu 37 X 26235715 26235715 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 26235715 26235715 A C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known missense c.297 p.E99D 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 28 0 0.00 25 14 35.90 MAGED1 0 genome.wustl.edu 37 X 51644982 51644982 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 51644982 51644982 T G SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.2461 p.F821V 0.998 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 24 0 0.00 36 12 25.00 MAN2B2 0 genome.wustl.edu 37 4 6596426 6596426 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 6596426 6596426 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1024 p.R342C 0.002 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 55 0 0.00 40 7 14.89 MBTPS2 0 genome.wustl.edu 37 X 21869646 21869646 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 21869646 21869646 C T SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.458 p.P153L 1.000 prints_MBTPS2 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 - - 40 0 0.00 50 22 30.56 MERTK 0 genome.wustl.edu 37 2 112722829 112722829 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 112722829 112722829 C T SNP MERTK ENST00000295408 human ensembl 74_37 +1 known silent c.819 p.S273 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 41 0 0.00 39 32 45.07 MGAT5 0 genome.wustl.edu 37 2 135199370 135199370 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 135199370 135199370 C T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known silent c.1911 p.A637 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 tier1 - - 47 0 0.00 51 16 23.88 MIR129-2 0 genome.wustl.edu 37 11 43603026 43603026 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 43603026 43603026 G A SNP MIR129-2 ENST00000362207 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR129-2 HGNC ENSG00000199077 tier1 - - 15 0 0.00 30 9 23.08 MIR485 0 genome.wustl.edu 37 14 101521822 101521823 + RNA DEL TT TT - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 101521822 101521823 TT - DEL MIR485 ENST00000385292 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR485 HGNC ENSG00000208027 tier1 26 0 0.00 34 8 19.05 MROH8 0 genome.wustl.edu 37 20 35769704 35769704 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 35769704 35769704 A C SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.1349 p.F450C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 tier1 - - 23 0 0.00 44 7 13.73 MTCH1 0 genome.wustl.edu 37 6 36938449 36938449 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 36938449 36938449 G A SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known missense c.928 p.R310W 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 20 0 0.00 31 2 6.06 MTMR3 0 genome.wustl.edu 37 22 30416172 30416172 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 30416172 30416172 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.2524 p.V842M 0.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 rs199966820 - 54 0 0.00 63 14 18.18 MUC19 0 genome.wustl.edu 37 12 40840291 40840291 + Silent SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 40840291 40840291 T A SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.2985 p.G995 0.997 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 36 0 0.00 16 24 60.00 MUC19 0 genome.wustl.edu 37 12 40921494 40921494 + RNA SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 40921494 40921494 T C SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 19 0 0.00 23 21 47.73 MUC4 0 genome.wustl.edu 37 3 195509509 195509509 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 195509509 195509509 T A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.8942 p.D2981V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 178 0 0.00 215 16 6.87 MYB 0 genome.wustl.edu 37 6 135539052 135539052 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 135539052 135539052 G C SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.2220 p.Q740H 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 58 0 0.00 55 457 89.08 MYB 0 genome.wustl.edu 37 6 135539249 135539249 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 135539249 135539249 G A SNP MYB ENST00000531845 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MYB HGNC ENSG00000118513 tier1 - - 31 0 0.00 50 366 87.77 MYB 0 genome.wustl.edu 37 6 135539839 135539839 + RNA SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 135539839 135539839 G C SNP MYB ENST00000531845 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors MYB HGNC ENSG00000118513 tier1 - - 14 0 0.00 24 106 81.54 MYB 0 genome.wustl.edu 37 6 135540214 135540214 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 135540214 135540214 G A SNP MYB ENST00000531845 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors MYB HGNC ENSG00000118513 tier1 - - 56 0 0.00 89 679 88.41 NBEAL2 0 genome.wustl.edu 37 3 47040460 47040460 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 47040460 47040460 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known silent c.3396 p.A1132 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 84 0 0.00 99 9 8.33 NCOA3 0 genome.wustl.edu 37 20 46279857 46279857 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 46279857 46279857 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3783 p.Q1261 0.971 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 62 0 0.00 104 11 9.57 NEDD9 0 genome.wustl.edu 37 6 11185638 11185638 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 11185638 11185638 G T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2262 p.H754Q 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 57 0 0.00 24 13 35.14 NETO2 0 genome.wustl.edu 37 16 47117434 47117434 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 47117434 47117434 G A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.1276 p.R426W 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 tier1 - - 40 0 0.00 51 9 15.00 NFATC3 0 genome.wustl.edu 37 16 68260696 68260696 + RNA SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 68260696 68260696 T G SNP NFATC3 ENST00000535127 human ensembl 74_37 +1 known rna NULL NULL 0.789 - - - no_errors NFATC3 HGNC ENSG00000072736 tier1 - - 63 0 0.00 62 4 6.06 NLRP3 0 genome.wustl.edu 37 1 247588567 247588567 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 247588567 247588567 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1822 p.L608M 0.934 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 46 0 0.00 48 16 25.00 NNMT 0 genome.wustl.edu 37 11 114183177 114183177 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 114183177 114183177 G C SNP NNMT ENST00000299964 human ensembl 74_37 +1 known missense c.773 p.R258T 0.157 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 tier1 - - 36 0 0.00 27 20 42.55 NOL9 0 genome.wustl.edu 37 1 6592771 6592771 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 6592771 6592771 G T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.1287 p.S429R 0.998 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 42 0 0.00 43 3 6.52 NPY2R 0 genome.wustl.edu 37 4 156136005 156136005 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 156136005 156136005 T G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.914 p.L305R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 tier1 - - 37 0 0.00 33 7 17.07 NRCAM 0 genome.wustl.edu 37 7 107830095 107830095 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 107830095 107830095 T C SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.2029 p.I677V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 30 0 0.00 17 17 50.00 NTRK3 0 genome.wustl.edu 37 15 88522553 88522553 + RNA SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 88522553 88522553 A C SNP NTRK3 ENST00000558306 human ensembl 74_37 -1 putative rna NULL NULL 0.996 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 31 0 0.00 20 11 35.48 NTRK3 0 genome.wustl.edu 37 15 88799249 88799249 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 88799249 88799249 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.136 p.R46W 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 58 0 0.00 67 4 5.56 OR10G9 0 genome.wustl.edu 37 11 123894160 123894160 + Silent SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 123894160 123894160 T G SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known silent c.441 p.T147 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 tier1 - - 91 0 0.00 123 15 10.87 OR2J1 0 genome.wustl.edu 37 6 29068844 29068844 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 29068844 29068844 G C SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.125 p.G42A 0.017 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 75 0 0.00 99 7 6.54 OR4C15 0 genome.wustl.edu 37 11 55322473 55322473 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 55322473 55322473 A C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.691 p.M231L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 50 0 0.00 49 10 16.67 OR4N2 0 genome.wustl.edu 37 14 20295732 20295732 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 20295732 20295732 A C SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.125 p.N42T 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 OR4N2 HGNC ENSG00000176294 tier1 - - 88 0 0.00 68 22 24.44 OR5D18 0 genome.wustl.edu 37 11 55587684 55587684 + Silent SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 55587684 55587684 T G SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known silent c.579 p.T193 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 60 0 0.00 72 17 19.10 OR5K3 0 genome.wustl.edu 37 3 98110010 98110010 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 98110010 98110010 T C SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known silent c.501 p.T167 0.061 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 tier1 - - 75 0 0.00 71 48 40.34 OR5L2 0 genome.wustl.edu 37 11 55594761 55594761 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 55594761 55594761 T G SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.67 p.L23V 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 72 0 0.00 54 37 40.22 OR5T2 0 genome.wustl.edu 37 11 55999981 55999981 + Silent SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 55999981 55999981 A G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.681 p.S227 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 63 0 0.00 91 13 12.50 OR6M1 0 genome.wustl.edu 37 11 123676607 123676607 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 123676607 123676607 A T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.451 p.F151I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 26 0 0.00 34 5 12.82 OR8G1 0 genome.wustl.edu 37 11 124120732 124120732 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 124120732 124120732 T C SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.310 p.F104L 0.658 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 OR8G1 HGNC ENSG00000197849 tier1 - - 123 0 0.00 144 26 15.29 PABPC4L 0 genome.wustl.edu 37 4 135121457 135121457 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 135121457 135121457 G A SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.892 p.H298Y 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 tier1 - - 38 0 0.00 32 10 23.81 PCDH11X 0 genome.wustl.edu 37 X 91131912 91131912 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 91131912 91131912 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.673 p.G225C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 83 0 0.00 94 6 6.00 PCDHB3 0 genome.wustl.edu 37 5 140482358 140482358 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 140482358 140482358 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2125 p.V709M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 179 0 0.00 158 21 11.73 PCDHGA11 0 genome.wustl.edu 37 5 140801036 140801036 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 140801036 140801036 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.242 p.R81Q 0.391 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 46 0 0.00 50 4 7.41 PCDHGA4 0 genome.wustl.edu 37 5 140734992 140734992 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 140734992 140734992 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.225 p.F75 0.959 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 62 0 0.00 41 3 6.82 PCDHGA6 0 genome.wustl.edu 37 5 140755574 140755574 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 140755574 140755574 C A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1924 p.L642I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 118 0 0.00 143 12 7.74 PCDHGB6 0 genome.wustl.edu 37 5 140788505 140788505 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 140788505 140788505 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.736 p.E246K 0.018 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 13 0 0.00 22 3 12.00 PDE8B 0 genome.wustl.edu 37 5 76696107 76696107 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 76696107 76696107 C A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.1202 p.S401Y 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 tier1 - - 37 0 0.00 32 13 28.89 PDGFD 0 genome.wustl.edu 37 11 103870968 103870968 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 103870968 103870968 G T SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.140 p.T47K 1.000 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 tier1 - - 54 0 0.00 55 22 28.57 PDGFRB 0 genome.wustl.edu 37 5 149504349 149504349 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 149504349 149504349 G A SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.1853 p.T618M 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 36 0 0.00 17 14 45.16 PDHA2 0 genome.wustl.edu 37 4 96761425 96761425 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 96761425 96761425 T G SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.124 p.Y42D 0.000 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 48 0 0.00 38 16 29.63 PGK1 0 genome.wustl.edu 37 X 77381499 77381499 + RNA SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 77381499 77381499 C T SNP PGK1 ENST00000476531 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors PGK1 HGNC ENSG00000102144 tier1 - - 39 0 0.00 46 4 8.00 PHF21A 0 genome.wustl.edu 37 11 46001444 46001444 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 46001444 46001444 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.227 p.P76L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 - - 260 0 0.00 239 143 37.34 PIEZO2 0 genome.wustl.edu 37 18 10784843 10784843 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 10784843 10784843 G A SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.2431 p.R811W 0.976 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 84 0 0.00 138 8 5.48 PIGQ 0 genome.wustl.edu 37 16 626145 626145 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 626145 626145 C T SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.833 p.T278M 0.408 pfam_GlcNAc_Gpi1 pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 22 0 0.00 15 4 21.05 PIK3CA 0 genome.wustl.edu 37 3 178947851 178947851 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 178947851 178947851 T G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2726 p.F909C 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 70 0 0.00 99 21 17.50 PIWIL2 0 genome.wustl.edu 37 8 22167540 22167540 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 22167540 22167540 G A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.1753 p.E585K 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 26 0 0.00 32 17 34.69 PKHD1 0 genome.wustl.edu 37 6 51935814 51935814 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 51935814 51935814 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.657 p.G219 0.853 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 17 0 0.00 30 3 9.09 PLCG1 0 genome.wustl.edu 37 20 39794968 39794968 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 39794968 39794968 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1934 p.R645H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 39 0 0.00 38 39 50.65 PLS3 0 genome.wustl.edu 37 X 114863595 114863595 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 114863595 114863595 G T SNP PLS3 ENST00000355899 human ensembl 74_37 +1 known missense c.323 p.G108V 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 tier1 - - 38 0 0.00 40 14 25.93 PLXNB3 0 genome.wustl.edu 37 X 153039000 153039000 + Silent SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 153039000 153039000 C A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known silent c.3180 p.G1060 0.913 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 tier1 - - 9 0 0.00 7 12 63.16 PNLIPRP3 0 genome.wustl.edu 37 10 118236293 118236293 + Silent SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 118236293 118236293 A G SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known silent c.1302 p.A434 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 51 0 0.00 41 17 29.31 PNMAL2 0 genome.wustl.edu 37 19 46998401 46998401 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 46998401 46998401 G A SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.322 p.R108C 0.002 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 tier1 - - 47 0 0.00 30 17 36.17 PNMT 0 genome.wustl.edu 37 17 37826276 37826276 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 37826276 37826276 G A SNP PNMT ENST00000269582 human ensembl 74_37 +1 known silent c.483 p.Q161 1.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 tier1 - - 43 0 0.00 374 294 43.95 POLE 0 genome.wustl.edu 37 12 133219838 133219838 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 133219838 133219838 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4523 p.R1508H 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 rs142508245 - 8 0 0.00 6 9 60.00 PPP1R37 0 genome.wustl.edu 37 19 45649041 45649041 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 45649041 45649041 G A SNP PPP1R37 ENST00000221462 human ensembl 74_37 +1 known missense c.1727 p.S576N 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 tier1 - - 19 0 0.00 9 7 43.75 PPP1R42 0 genome.wustl.edu 37 8 67926793 67926793 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 67926793 67926793 A G SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known missense c.164 p.L55S 1.000 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 14 0 0.00 43 6 12.24 PPP4R1 0 genome.wustl.edu 37 18 9595065 9595065 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 9595065 9595065 G T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.139 p.P47T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 tier1 - - 47 0 0.00 52 6 10.34 PRAMEF11 0 genome.wustl.edu 37 1 12888666 12888666 + Splice_Site SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 12888666 12888666 T G SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known splice_site c.1-2 e1-2 0.000 - - - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 284 0 0.00 247 38 13.33 PRB3 0 genome.wustl.edu 37 12 11420304 11420304 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 11420304 11420304 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.752 p.P251L 0.335 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 140 0 0.00 168 12 6.67 PRDM13 0 genome.wustl.edu 37 6 100060981 100060981 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 100060981 100060981 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.470 p.R157H 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 tier1 - - 40 0 0.00 61 7 10.29 PRL 0 genome.wustl.edu 37 6 22292815 22292815 + Silent SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 22292815 22292815 A C SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.264 p.T88 0.172 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 tier1 - - 79 0 0.00 125 14 10.07 PRSS1 0 genome.wustl.edu 37 7 142459717 142459717 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 142459717 142459717 A G SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.293 p.Q98R 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 95 0 0.00 73 7 8.75 PTCHD2 0 genome.wustl.edu 37 1 11562884 11562884 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 11562884 11562884 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1246 p.E416K 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 67 0 0.00 50 8 13.79 PXDN 0 genome.wustl.edu 37 2 1652615 1652615 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 1652615 1652615 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2937 p.N979 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 23 0 0.00 24 6 20.00 PXDNL 0 genome.wustl.edu 37 8 52320958 52320958 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 52320958 52320958 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3226 p.E1076K 0.989 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 38 0 0.00 30 9 23.08 RAPGEF3 0 genome.wustl.edu 37 12 48142277 48142277 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 48142277 48142277 C T SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known silent c.1203 p.L401 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 tier1 - - 20 0 0.00 6 9 60.00 RBM3 0 genome.wustl.edu 37 X 48433656 48433656 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 48433656 48433656 G A SNP RBM3 ENST00000376755 human ensembl 74_37 +1 known missense c.88 p.G30R 0.840 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM3 HGNC ENSG00000102317 39 0 0.00 49 5 9.26 RBMXL3 0 genome.wustl.edu 37 X 114426992 114426992 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 114426992 114426992 C T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known silent c.2988 p.G996 0.066 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 47 0 0.00 49 36 42.35 RECQL4 0 genome.wustl.edu 37 8 145739686 145739686 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 145739686 145739686 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.1765 p.G589S 0.005 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 tier1 - - 29 0 0.00 46 8 14.81 RGPD3 0 genome.wustl.edu 37 2 107049690 107049690 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 107049690 107049690 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2257 p.E753K 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 219 0 0.00 277 16 5.46 RGS20 0 genome.wustl.edu 37 8 54791923 54791923 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 54791923 54791923 C T SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.271 p.R91W 0.895 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 RGS20 HGNC ENSG00000147509 41 0 0.00 50 4 7.27 RGS6 0 genome.wustl.edu 37 14 73029207 73029207 + RNA SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 73029207 73029207 C A SNP RGS6 ENST00000554300 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 21 0 0.00 8 15 65.22 RGSL1 0 genome.wustl.edu 37 1 182443459 182443459 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 182443459 182443459 G A SNP RGSL1 ENST00000294854 human ensembl 74_37 +1 known missense c.1213 p.D405N 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 tier1 - - 22 0 0.00 26 11 29.73 ROBO2 0 genome.wustl.edu 37 3 77542488 77542488 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 77542488 77542488 C A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.761 p.P254Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 26 0 0.00 27 13 32.50 RP1L1 0 genome.wustl.edu 37 8 10466111 10466111 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 10466111 10466111 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.5497 p.E1833K 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 70 0 0.00 97 10 9.26 RPS10 0 genome.wustl.edu 37 6 34389563 34389563 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 34389563 34389563 G A SNP RPS10 ENST00000326199 human ensembl 74_37 -1 known missense c.344 p.A115V 1.000 NULL pfam_S10_plectin_N - no_errors RPS10 HGNC ENSG00000124614 tier1 - - 56 0 0.00 65 42 39.25 RTL1 0 genome.wustl.edu 37 14 101347476 101347476 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 14 101347476 101347476 T G SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3650 p.N1217T 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 56 0 0.00 16 7 30.43 RYR2 0 genome.wustl.edu 37 1 237865317 237865317 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 237865317 237865317 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9401 p.S3134N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 38 0 0.00 28 12 30.00 SAFB 0 genome.wustl.edu 37 19 5641936 5641936 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 5641936 5641936 G A SNP SAFB ENST00000588852 human ensembl 74_37 +1 known silent c.525 p.P175 0.364 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 23 0 0.00 34 11 24.44 SAMD9 0 genome.wustl.edu 37 7 92734538 92734538 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 92734538 92734538 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.873 p.E291D 0.999 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 22 0 0.00 64 7 9.86 SCML2 0 genome.wustl.edu 37 X 18264857 18264857 + Nonsense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 18264857 18264857 A C SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known nonsense c.1662 p.Y554* 0.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 tier1 - - 32 0 0.00 44 24 35.29 SCN3A 0 genome.wustl.edu 37 2 165994580 165994580 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 165994580 165994580 C A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2200 p.A734S 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 57 0 0.00 46 6 11.54 SCN4A 0 genome.wustl.edu 37 17 62018150 62018150 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 62018150 62018150 A T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5492 p.V1831D 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 47 0 0.00 24 26 52.00 SCUBE1 0 genome.wustl.edu 37 22 43606144 43606144 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 43606144 43606144 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.2486 p.A829V 0.961 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 57 0 0.00 45 19 29.23 SDHAP1 0 genome.wustl.edu 37 3 195702747 195702747 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 195702747 195702747 G A SNP SDHAP1 ENST00000427841 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors SDHAP1 HGNC ENSG00000185485 80 0 0.00 100 8 7.41 SEC13 0 genome.wustl.edu 37 3 10354308 10354308 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 10354308 10354308 C T SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known missense c.271 p.G91S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 tier1 rs137884718 - 35 0 0.00 17 10 37.04 SEMA6D 0 genome.wustl.edu 37 15 48063701 48063701 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 48063701 48063701 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.2941 p.L981 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 35 0 0.00 24 18 42.86 SFRP1 0 genome.wustl.edu 37 8 41122735 41122735 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 41122735 41122735 T G SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.896 p.K299T 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 tier1 - - 62 0 0.00 68 13 16.05 SFTPA1 0 genome.wustl.edu 37 10 81373718 81373718 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 81373718 81373718 G C SNP SFTPA1 ENST00000419470 human ensembl 74_37 +1 known missense c.641 p.R214P 0.004 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC ENSG00000122852 tier1 - - 59 0 0.00 41 16 28.07 SIGLEC5 0 genome.wustl.edu 37 19 52130727 52130727 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 52130727 52130727 G T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1270 p.L424M 0.222 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 78 0 0.00 60 42 41.18 SLC25A44 0 genome.wustl.edu 37 1 156180848 156180851 + RNA DEL TGTG TGTG - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 TGTG TGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 156180848 156180851 TGTG - DEL SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.001 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 16 0 0.00 23 6 20.69 SLC39A12 0 genome.wustl.edu 37 10 18270308 18270308 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 18270308 18270308 A T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.992 p.E331V 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 23 0 0.00 31 8 20.51 SLC45A1 0 genome.wustl.edu 37 1 8398028 8398028 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 8398028 8398028 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1852 p.A618T 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 tier1 - - 43 0 0.00 51 10 16.39 SLC6A1 0 genome.wustl.edu 37 3 11067497 11067497 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 11067497 11067497 C T SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known silent c.888 p.Y296 0.759 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 rs144034291 - 44 0 0.00 30 11 26.83 SLC8A1 0 genome.wustl.edu 37 2 40656365 40656365 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 40656365 40656365 T A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1056 p.Q352H 0.968 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 79 0 0.00 61 27 30.68 SLC9A6 0 genome.wustl.edu 37 X 135104757 135104757 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 135104757 135104757 T C SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known silent c.1363 p.L455 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 tier1 - - 39 0 0.00 56 7 11.11 SLCO3A1 0 genome.wustl.edu 37 15 92663743 92663743 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 92663743 92663743 G T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1058 p.C353F 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 47 0 0.00 36 24 40.00 SLIT3 0 genome.wustl.edu 37 5 168151436 168151436 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 168151436 168151436 C T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.2324 p.R775Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 49 0 0.00 40 18 31.03 SLITRK1 0 genome.wustl.edu 37 13 84453910 84453910 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 13 84453910 84453910 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1733 p.C578F 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 16 0 0.00 16 6 27.27 SLITRK2 0 genome.wustl.edu 37 X 144905711 144905711 + Silent SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 144905711 144905711 T C SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known silent c.1768 p.L590 0.036 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 27 0 0.00 18 23 56.10 SMC2 0 genome.wustl.edu 37 9 106864245 106864245 + Missense_Mutation SNP G G C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 106864245 106864245 G C SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.641 p.R214T 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 30 0 0.00 24 2 7.69 SNX16 0 genome.wustl.edu 37 8 82727597 82727597 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 82727597 82727597 T A SNP SNX16 ENST00000345957 human ensembl 74_37 -1 known missense c.644 p.D215V 1.000 superfamily_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX16 HGNC ENSG00000104497 20 0 0.00 27 3 10.00 SPACA1 0 genome.wustl.edu 37 6 88768457 88768457 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 88768457 88768457 C A SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.391 p.L131I 0.967 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 tier1 - - 24 0 0.00 35 15 30.00 SPPL2C 0 genome.wustl.edu 37 17 43922683 43922683 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 43922683 43922683 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.411 p.Q137 0.286 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 49 0 0.00 42 59 58.42 SSX2IP 0 genome.wustl.edu 37 1 85136405 85136405 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 85136405 85136405 G A SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.137 p.S46L 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 tier1 - - 19 0 0.00 20 9 31.03 STAG2 0 genome.wustl.edu 37 X 123176428 123176428 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 123176428 123176428 C A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.395 p.T132K 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 tier1 - - 75 0 0.00 49 7 12.50 STAG3L3 0 genome.wustl.edu 37 7 72440244 72440244 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 72440244 72440244 G A SNP STAG3L3 ENST00000436857 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors STAG3L3 HGNC ENSG00000174353 tier1 - - 59 0 0.00 64 43 39.81 STARD8 0 genome.wustl.edu 37 X 67942429 67942429 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 67942429 67942429 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2740 p.R914C 0.997 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 rs139291119 - 79 0 0.00 91 7 7.14 STIP1 0 genome.wustl.edu 37 11 63970376 63970376 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 63970376 63970376 C T SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known missense c.1274 p.P425L 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 tier1 - - 66 0 0.00 74 9 10.71 STK32B 0 genome.wustl.edu 37 4 5053593 5053593 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 5053593 5053593 G A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 tier1 - - 67 0 0.00 27 13 32.50 STK38L 0 genome.wustl.edu 37 12 27472324 27472324 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 27472324 27472324 C T SNP STK38L ENST00000389032 human ensembl 74_37 +1 known silent c.1143 p.P381 0.567 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38L HGNC ENSG00000211455 tier1 - - 42 0 0.00 50 5 9.09 SUCNR1 0 genome.wustl.edu 37 3 151599113 151599113 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 151599113 151599113 G A SNP SUCNR1 ENST00000362032 human ensembl 74_37 +1 known missense c.782 p.G261E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors SUCNR1 HGNC ENSG00000198829 tier1 - - 83 0 0.00 120 24 16.67 SULF1 0 genome.wustl.edu 37 8 70476293 70476293 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 70476293 70476293 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.83 p.P28L 0.143 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 81 0 0.00 122 19 13.38 SUMO1 0 genome.wustl.edu 37 2 203084799 203084799 + Frame_Shift_Del DEL C C - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 203084799 203084799 C - DEL SUMO1 ENST00000392245 human ensembl 74_37 -1 known frame_shift_del c.43 p.D15fs 1.000 NULL pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC ENSG00000116030 tier1 51 0 0.00 51 21 29.17 TENM4 0 genome.wustl.edu 37 11 78565358 78565358 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 78565358 78565358 A C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.1472 p.F491C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 33 0 0.00 26 3 10.34 TEX10 0 genome.wustl.edu 37 9 103108371 103108371 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 103108371 103108371 C A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.1120 p.D374Y 1.000 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 30 0 0.00 35 2 5.41 TFAP2D 0 genome.wustl.edu 37 6 50696968 50696968 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 6 50696968 50696968 T G SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.826 p.L276V 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 35 0 0.00 50 3 5.66 TGM5 0 genome.wustl.edu 37 15 43545067 43545067 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 43545067 43545067 T C SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.752 p.N251S 0.878 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 18 0 0.00 24 8 25.00 TIAM1 0 genome.wustl.edu 37 21 32554886 32554886 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 21 32554886 32554886 A T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2739 p.D913E 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 72 0 0.00 38 11 22.45 TIMP1 0 genome.wustl.edu 37 X 47444888 47444888 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 47444888 47444888 C A SNP TIMP1 ENST00000377018 human ensembl 74_37 +1 known missense c.257 p.A86E 0.000 smart_Prot_inh_TIMP pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP - no_errors TIMP1 HGNC ENSG00000102265 tier1 - - 64 0 0.00 52 18 25.71 TLE4 0 genome.wustl.edu 37 9 82335074 82335074 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 82335074 82335074 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known silent c.1800 p.R600 0.959 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 tier1 - - 65 0 0.00 41 14 25.45 TLN2 0 genome.wustl.edu 37 15 63088404 63088404 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 15 63088404 63088404 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5962 p.G1988R 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 42 0 0.00 72 7 8.86 TMED6 0 genome.wustl.edu 37 16 69385482 69385482 + Missense_Mutation SNP A A T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 69385482 69385482 A T SNP TMED6 ENST00000288025 human ensembl 74_37 -1 known missense c.175 p.F59I 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED6 HGNC ENSG00000157315 tier1 - - 39 0 0.00 45 12 21.05 TMEM132D 0 genome.wustl.edu 37 12 129566348 129566348 + Missense_Mutation SNP C C G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 129566348 129566348 C G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1879 p.G627R 0.982 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 64 0 0.00 25 20 44.44 TMEM176B 0 genome.wustl.edu 37 7 150491085 150491085 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 7 150491085 150491085 C T SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known silent c.279 p.L93 0.164 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 tier1 - - 39 0 0.00 24 30 55.56 TMEM184C 0 genome.wustl.edu 37 4 148555367 148555367 + Nonsense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 148555367 148555367 C T SNP TMEM184C ENST00000296582 human ensembl 74_37 +1 known nonsense c.1099 p.Q367* 0.177 NULL pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 16 0 0.00 24 3 11.11 TOPORS 0 genome.wustl.edu 37 9 32543529 32543529 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 9 32543529 32543529 C T SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.994 p.E332K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 22 0 0.00 19 2 9.52 TP53 0 genome.wustl.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 7578431 7578431 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.998 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 - - 36 0 0.00 16 19 54.29 TRAF5 0 genome.wustl.edu 37 1 211545598 211545598 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 211545598 211545598 G A SNP TRAF5 ENST00000261464 human ensembl 74_37 +1 known missense c.1228 p.V410M 1.000 superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 44 0 0.00 47 3 6.00 TRIM42 0 genome.wustl.edu 37 3 140407130 140407130 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 140407130 140407130 A G SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1606 p.S536G 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 27 0 0.00 36 7 16.28 TRIML2 0 genome.wustl.edu 37 4 189018248 189018248 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 189018248 189018248 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.562 p.R188G 0.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 36 0 0.00 27 6 18.18 TRPS1 0 genome.wustl.edu 37 8 116430667 116430667 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 116430667 116430667 G T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2714 p.S905Y 0.996 smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 17 0 0.00 29 14 32.56 TRPV3 0 genome.wustl.edu 37 17 3432156 3432156 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 3432156 3432156 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.1376 p.S459L 0.999 prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 28 0 0.00 25 4 13.79 TRPV4 0 genome.wustl.edu 37 12 110252313 110252313 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 110252313 110252313 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.289 p.P97S 1.000 prints_TRPV4_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 tier1 - - 43 0 0.00 25 35 58.33 TSPAN7 0 genome.wustl.edu 37 X 38515293 38515293 + Silent SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 38515293 38515293 G A SNP TSPAN7 ENST00000480976 human ensembl 74_37 +1 known silent c.126 p.G42 0.006 NULL NULL - no_errors TSPAN7 HGNC ENSG00000156298 tier1 - - 16 0 0.00 16 9 36.00 TSSC1 0 genome.wustl.edu 37 2 3192879 3192879 + RNA SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 3192879 3192879 G A SNP TSSC1 ENST00000478754 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TSSC1 HGNC ENSG00000032389 tier1 - - 11 0 0.00 4 7 63.64 TSSK2 0 genome.wustl.edu 37 22 19119927 19119927 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 19119927 19119927 G A SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.1015 p.E339K 0.885 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 14 0 0.00 12 5 29.41 TTC28 0 genome.wustl.edu 37 22 28379105 28379105 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 22 28379105 28379105 C T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.6550 p.G2184S 0.362 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 62 0 0.00 49 16 24.62 TTN 0 genome.wustl.edu 37 2 179454489 179454489 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 179454489 179454489 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54259 p.E18087K 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,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 - - 72 0 0.00 63 18 22.22 TTN 0 genome.wustl.edu 37 2 179596509 179596509 + Missense_Mutation SNP T T C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 2 179596509 179596509 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13361 p.K4454R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 37 7 15.91 TTPAL 0 genome.wustl.edu 37 20 43118107 43118107 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 20 43118107 43118107 C T SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known silent c.954 p.P318 0.000 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 tier1 - - 44 0 0.00 80 17 17.53 TUBA1B 0 genome.wustl.edu 37 12 49521906 49521906 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 12 49521906 49521906 C T SNP TUBA1B ENST00000336023 human ensembl 74_37 -1 known silent c.1191 p.L397 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 tier1 - - 127 0 0.00 148 26 14.94 UBE2QL1 0 genome.wustl.edu 37 5 6449291 6449291 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 6449291 6449291 C T SNP UBE2QL1 ENST00000399816 human ensembl 74_37 +1 known silent c.285 p.R95 0.999 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC ENSG00000215218 tier1 - - 10 0 0.00 5 7 58.33 UBQLNL 0 genome.wustl.edu 37 11 5536298 5536298 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 5536298 5536298 C A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.1374 p.Q458H 0.662 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 25 0 0.00 23 6 20.69 USP1 0 genome.wustl.edu 37 1 62910645 62910645 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 1 62910645 62910645 C T SNP USP1 ENST00000339950 human ensembl 74_37 +1 known missense c.794 p.P265L 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 11 0 0.00 14 3 17.65 USP32P1 0 genome.wustl.edu 37 17 16704479 16704480 + RNA INS - - GAAT TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 16704479 16704480 - GAAT INS USP32P1 ENST00000444558 human ensembl 74_37 +1 known rna NULL NULL 0.103:0.004 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 42 0 0.00 19 2 9.52 USP6 0 genome.wustl.edu 37 17 5072078 5072078 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 5072078 5072078 G A SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.3245 p.R1082Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 120 0 0.00 117 22 15.83 VCAN 0 genome.wustl.edu 37 5 82816669 82816669 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 82816669 82816669 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2544 p.E848D 0.003 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 25 0 0.00 12 14 53.85 VN1R2 0 genome.wustl.edu 37 19 53762665 53762665 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 53762665 53762665 G T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.1037 p.W346L 0.002 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 tier1 - - 79 0 0.00 103 14 11.97 WDFY4 0 genome.wustl.edu 37 10 50171915 50171915 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 50171915 50171915 A C SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.8252 p.N2751T 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 67 0 0.00 49 49 50.00 WDR49 0 genome.wustl.edu 37 3 167339315 167339315 + Silent SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 167339315 167339315 A G SNP WDR49 ENST00000479765 human ensembl 74_37 -1 putative silent c.723 p.Y241 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_EF_hand_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 26 0 0.00 61 11 15.28 WFIKKN1 0 genome.wustl.edu 37 16 683884 683884 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 683884 683884 C T SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known missense c.1474 p.P492S 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 tier1 - - 66 0 0.00 39 11 22.00 XCR1 0 genome.wustl.edu 37 3 46062567 46062567 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 46062567 46062567 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known silent c.873 p.G291 0.986 prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 tier1 - - 54 0 0.00 57 9 13.64 ZC3H4 0 genome.wustl.edu 37 19 47589768 47589768 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 47589768 47589768 C A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.743 p.R248M 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 tier1 - - 43 0 0.00 45 20 30.77 ZDHHC11B 0 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 75 0 0.00 296 16 5.13 ZFHX4 0 genome.wustl.edu 37 8 77616566 77616566 + Silent SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 77616566 77616566 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.243 p.P81 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 35 0 0.00 49 6 10.91 ZFHX4 0 genome.wustl.edu 37 8 77763524 77763524 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 8 77763524 77763524 T G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4367 p.L1456R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 39 0 0.00 49 4 7.55 ZFP92 0 genome.wustl.edu 37 X 152686804 152686804 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e X 152686804 152686804 C T SNP ZFP92 ENST00000338647 human ensembl 74_37 +1 known silent c.969 p.R323 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP92 HGNC ENSG00000189420 tier1 - - 15 0 0.00 20 16 44.44 ZIC1 0 genome.wustl.edu 37 3 147128795 147128795 + Missense_Mutation SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 3 147128795 147128795 A G SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.896 p.E299G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 tier1 - - 47 0 0.00 60 17 22.08 ZNF208 0 genome.wustl.edu 37 19 22156826 22156826 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 22156826 22156826 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1010 p.G337V 0.350 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 62 0 0.00 57 14 19.72 ZNF33A 0 genome.wustl.edu 37 10 38343629 38343629 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 10 38343629 38343629 G A SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.595 p.V199I 0.050 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 tier1 - - 39 0 0.00 57 5 8.06 ZNF408 0 genome.wustl.edu 37 11 46726758 46726758 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 11 46726758 46726758 G A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.1508 p.R503Q 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 53 0 0.00 24 21 46.67 ZNF415 0 genome.wustl.edu 37 19 53613064 53613064 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 53613064 53613064 T A SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.378 p.K126N 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 81 0 0.00 108 6 5.26 ZNF469 0 genome.wustl.edu 37 16 88501491 88501491 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 16 88501491 88501491 G A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.7529 p.R2510K 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 44 0 0.00 52 6 10.34 ZNF470 0 genome.wustl.edu 37 19 57088951 57088951 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 57088951 57088951 G A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1154 p.R385H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 tier1 - - 33 0 0.00 39 15 27.78 ZNF518B 0 genome.wustl.edu 37 4 10446830 10446830 + Missense_Mutation SNP C C A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 4 10446830 10446830 C A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.1123 p.G375W 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 tier1 - - 46 0 0.00 37 9 19.57 ZNF521 0 genome.wustl.edu 37 18 22805695 22805695 + Missense_Mutation SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 18 22805695 22805695 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2187 p.E729D 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 37 0 0.00 50 6 10.71 ZNF536 0 genome.wustl.edu 37 19 30936157 30936157 + Missense_Mutation SNP A A C TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 30936157 30936157 A C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1688 p.K563T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 41 0 0.00 36 11 23.40 ZNF564 0 genome.wustl.edu 37 19 12637330 12637330 + Missense_Mutation SNP T T A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 12637330 12637330 T A SNP ZNF564 ENST00000339282 human ensembl 74_37 -1 known missense c.1592 p.K531I 0.982 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 ZNF564 HGNC ENSG00000249709 tier1 - - 21 0 0.00 37 7 15.91 ZNF594 0 genome.wustl.edu 37 17 5085463 5085463 + Nonsense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 17 5085463 5085463 G A SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known nonsense c.2089 p.Q697* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 tier1 - - 73 0 0.00 83 6 6.74 ZNF766 0 genome.wustl.edu 37 19 52793491 52793491 + Silent SNP T T G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 52793491 52793491 T G SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known silent c.492 p.L164 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 11 0 0.00 13 3 18.75 ZNF99 0 genome.wustl.edu 37 19 22940992 22940992 + Silent SNP A A G TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee548b30-729e-4ee2-abd7-33e6661fa4bc ca4efbd8-835c-4a24-b3f9-4a6e7b01995e 19 22940992 22940992 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1446 p.A482 0.055 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 ZNF99 HGNC ENSG00000213973 tier1 - - 34 0 0.00 37 7 15.91